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 MAP7 9053 broad.mit.edu 37 6 136683601 136683601 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:136683601C>T uc011edg.2 - 10 1852 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K MAP7_uc011edf.2_Missense_Mutation_p.E490K|MAP7_uc010kgu.3_Missense_Mutation_p.E527K|MAP7_uc011edh.2_Missense_Mutation_p.E490K|MAP7_uc010kgv.3_Missense_Mutation_p.E527K|MAP7_uc010kgs.3_Missense_Mutation_p.E359K|MAP7_uc011edi.2_Missense_Mutation_p.E359K|MAP7_uc010kgq.2_Missense_Mutation_p.E411K|MAP7_uc003qgz.3_Missense_Mutation_p.E505K|MAP7_uc003qha.2_Missense_Mutation_p.E468K NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 505 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TCAAGCTCTTCCTGCTCCCTC 0.532000 11 63 0 0 0.014410 0 0 NRG3 10718 broad.mit.edu 37 10 84118499 84118499 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:84118499G>A uc021pvc.1 + 1 855 c.828G>A c.(826-828)acG>acA p.T276T NRG3_uc010qlz.1_Silent_p.T276T|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.T276T|NRG3_uc001kcp.2_Silent_p.T55T|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Silent_p.T55T|NRG3_uc021pve.1_Silent_p.T80T|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Silent_p.T80T|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Silent_p.T106T|NRG3_uc021pvk.1_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 276 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.H275Y(1)|p.T276R(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TGACAGATACGACGACATATT 0.517000 35 41 0 0 0.013114 0 0 DONSON 29980 broad.mit.edu 37 21 35275893 35275893 + Nonsense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:35275893A>T uc002ytl.3 - 6 670 c.579T>A c.(577-579)taT>taA p.Y193* DONSON_uc002ysn.1_Intron NM_001697 NP_001688 Q9NYP3 DONS_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA. 0 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 ACATGTCAACATATTTCTCGC 0.423000 29 39 0 0 0.010771 0 0 LAMA2 3908 broad.mit.edu 37 6 129766881 129766881 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:129766881C>T uc021zfb.1 + 44 6449 c.6344C>T c.(6343-6345)cCc>cTc p.P2115L LAMA2_uc003qbn.3_Missense_Mutation_p.P2113L|LAMA2_uc003qbo.3_Missense_Mutation_p.P2113L NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 2115 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAACTCAAACCCATCAAGGAA 0.368000 4 21 0 0 0.010504 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159609905 159609905 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:159609905C>T uc003fcq.2 + 9 1747 c.1566C>T c.(1564-1566)gtC>gtT p.V522V IQCJ-SCHIP1_uc003fcr.2_Silent_p.V495V|IQCJ-SCHIP1_uc003fcs.2_Silent_p.V446V|IQCJ-SCHIP1_uc003fct.2_Silent_p.V433V|IQCJ-SCHIP1_uc021xgm.1_Silent_p.V214V|IQCJ-SCHIP1_uc010hvz.1_Silent_p.V406V|IQCJ-SCHIP1_uc003fcu.2_Silent_p.V203V NM_001197113 NP_001184042 Q9P0W5 SCHI1_HUMAN Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA. 446 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AAGAGTTGGTCCAGCTGCTTC 0.448000 31 28 0 0 0.008361 0 0 KEL 3792 broad.mit.edu 37 7 142640915 142640915 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:142640915C>T uc003wcb.3 - 13 1757 c.1547G>A c.(1546-1548)cGa>cAa p.R516Q NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 516 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AATTCTAGCTCGGAGGGACCG 0.557000 38 14 0 0 0.004007 0 0 GAGE10 643832 broad.mit.edu 37 X 49161358 49161358 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:49161358C>T uc010nir.1 + 1 136 c.20C>T c.(19-21)tCg>tTg p.S7L NM_001098413 NP_001091883 A6NGK3 GAG10_HUMAN Homo sapiens G antigen 10 (GAGE10), mRNA. 7 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) CGAGGAAGATCGACCTATCGG 0.453000 224 161 0 0 0.014410 0 0 ADAM18 8749 broad.mit.edu 37 8 39496010 39496010 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:39496010G>A uc003xni.3 + 9 909 c.854G>A c.(853-855)gGa>gAa p.G285E ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G261E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 285 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.V284G(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AAATATGTGGGAGCAACATTT 0.289000 15 13 0 0 0.003163 0 0 PROKR1 10887 broad.mit.edu 37 2 68882234 68882234 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:68882234C>T uc010yqj.2 + 1 868 c.708C>T c.(706-708)atC>atT p.I236I PROKR1_uc002ses.3_Non-coding_Transcript NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN Homo sapiens prokineticin receptor 1 (PROKR1), mRNA. 236 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCCTCTTTATCTTTGGCATAG 0.552000 45 45 0 0 0.014410 0 0 ANO5 203859 broad.mit.edu 37 11 22257816 22257816 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:22257816C>T uc001mqi.2 + 7 1073 c.756C>T c.(754-756)ctC>ctT p.L252L ANO5_uc001mqj.2_Silent_p.L251L NM_213599 NP_998764 Q75V66 ANO5_HUMAN Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. 252 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTATCCACTCCATGATGTAT 0.383000 22 16 0 0 0.004990 0 0 ELAVL3 1995 broad.mit.edu 37 19 11576999 11576999 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:11576999C>T uc002mry.1 - 2 701 c.321G>A c.(319-321)acG>acA p.T107T ELAVL3_uc002mrx.1_Silent_p.T107T NM_001420 NP_001411 Q14576 ELAV3_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA. 107 RRM 1. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 TGATGGTCTTCGTCTGTAATT 0.572000 22 22 0 0 0.014323 0 0 MITF 4286 broad.mit.edu 37 3 69990452 69990452 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:69990452G>C uc003dnz.3 + 4 895 c.732G>C c.(730-732)ttG>ttC p.L244F MITF_uc011bgb.2_Missense_Mutation_p.L192F|MITF_uc003doa.3_Missense_Mutation_p.L243F|MITF_uc003dob.3_Missense_Mutation_p.L228F|MITF_uc021xam.1_Missense_Mutation_p.L81F|MITF_uc003doe.3_Missense_Mutation_p.L137F|MITF_uc003dof.3_Missense_Mutation_p.L137F NM_198159 NP_001171896 O75030 MITF_HUMAN Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA. 244 Transactivation. melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding p.G244R(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCTTGGGCTTGATGGATCCTG 0.348000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 33 23 0 0 0.003954 0 0 ZNF423 23090 broad.mit.edu 37 16 49669970 49669970 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:49669970G>A uc002efs.3 - 4 3391 c.3093C>T c.(3091-3093)tcC>tcT p.S1031S ZNF423_uc010vgn.2_Silent_p.S914S NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 1031 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTCAAGCGTGGAAGTGACTG 0.597000 15 9 0 0 0.006214 0 0 KIF5A 3798 broad.mit.edu 37 12 57976384 57976384 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:57976384G>A uc001sor.1 + 27 3201 c.2993_splice c.e27-1 p.G998_splice KIF5A_uc010srr.1_Splice_Site_p.G909_splice|BC033961_uc001sos.3_5'Flank NM_004984 NP_004975 Q12840 KIF5A_HUMAN Homo sapiens kinesin family member 5A (KIF5A), mRNA. 998 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GATCTCTTCAGGAAATGCCAC 0.438000 104 82 0 0 0.014410 0 0 CUX2 23316 broad.mit.edu 37 12 111748213 111748213 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:111748213G>A uc001tsa.2 + 14 1781 c.1627G>A c.(1627-1629)Gcg>Acg p.A543T NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 543 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TGGGGGCGGAGCGGCGGGGCC 0.706000 8 5 0 0 0.001984 0 0 KCNQ4 9132 broad.mit.edu 37 1 41283850 41283850 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:41283850C>T uc001cgh.2 + 2 502 c.420C>T c.(418-420)atC>atT p.I140I KCNQ4_uc001cgi.2_Silent_p.I140I NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 140 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCGTGATGATCGTGGTTTTCG 0.627000 4 58 0 0 0.014410 0 0 KSR2 283455 broad.mit.edu 37 12 118016958 118016958 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:118016958C>T uc001two.2 - 6 1259 c.1204G>A c.(1204-1206)Ggg>Agg p.G402R NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 431 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAAAGCATCCCTTTCCCACAG 0.488000 15 14 0 0 0.010504 0 0 VCAN 1462 broad.mit.edu 37 5 82786188 82786188 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:82786188C>T uc003kii.3 + 2 698 c.342C>T c.(340-342)tcC>tcT p.S114S VCAN_uc003kij.3_Silent_p.S114S|VCAN_uc010jau.2_Silent_p.S114S|VCAN_uc003kik.3_Silent_p.S114S|VCAN_uc003kih.4_Silent_p.S114S NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 114 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GCGATGCCTCCCTCACTGTGG 0.537000 40 49 0 0 0.014410 0 0 RAB27B 5874 broad.mit.edu 37 18 52546659 52546659 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:52546659G>A uc002lfr.3 + 2 456 c.213G>A c.(211-213)caG>caA p.Q71Q NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 71 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TGCATCTTCAGCTTTGGGACA 0.373000 39 45 0 0 0.014410 0 0 KCNMA1 3778 broad.mit.edu 37 10 78846346 78846346 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:78846346G>T uc001jxn.3 - 10 1517 c.1340C>A c.(1339-1341)tCc>tAc p.S447Y KCNMA1_uc021ptu.1_Missense_Mutation_p.S393Y|KCNMA1_uc001jxj.2_Missense_Mutation_p.S447Y|KCNMA1_uc001jxk.1_Missense_Mutation_p.S62Y|KCNMA1_uc009xrt.1_Missense_Mutation_p.S267Y|KCNMA1_uc001jxl.1_Missense_Mutation_p.S101Y|KCNMA1_uc001jxo.3_Missense_Mutation_p.S447Y|KCNMA1_uc001jxm.3_Missense_Mutation_p.S447Y|KCNMA1_uc001jxq.3_Missense_Mutation_p.S447Y NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 447 RCK N-terminal. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CAGGTTGGGGGAGATGCTACA 0.478000 22 15 1.37285e-15 1.85993e-15 0.004007 1 0 TMPRSS11A 339967 broad.mit.edu 37 4 68784714 68784714 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:68784714C>T uc003hdr.1 - 7 1059 c.938G>A c.(937-939)gGa>gAa p.G313E LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G310E NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA. 313 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TGCTCCAAATCCTGTGATGTG 0.458000 58 52 0 0 0.014410 0 0 ADAM29 11086 broad.mit.edu 37 4 175898264 175898264 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:175898264C>T uc003iuc.3 + 4 2258 c.1588C>T c.(1588-1590)Cgt>Tgt p.R530C ADAM29_uc003iud.3_Missense_Mutation_p.R530C|ADAM29_uc010irr.3_Missense_Mutation_p.R530C|ADAM29_uc011cki.2_Missense_Mutation_p.R530C|ADAM29_uc021xuo.1_Missense_Mutation_p.R530C NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 530 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.R530H(1)|p.R530P(1) 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) CTTAGGTGACCGTGTTGGTCA 0.418000 38 26 0 0 0.004656 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131688536 131688536 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:131688536C>T uc002tsa.1 + 2 525 c.6C>T c.(4-6)ccC>ccT p.P2P ARHGEF4_uc010fmw.1_Silent_p.P648P|ARHGEF4_uc002tsb.1_Silent_p.P2P|ARHGEF4_uc010fmx.1_Silent_p.P2P|ARHGEF4_uc002trz.1_Silent_p.P648P NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 2 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) ACCACATGCCCTGGGAAGAAC 0.552000 15 24 0 0 0.006320 0 0 HESX1 8820 broad.mit.edu 37 3 57232439 57232439 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:57232439G>A uc003din.4 - 2 773 c.439C>T c.(439-441)Cta>Tta p.L147L NM_003865 NP_003856 Q9UBX0 HESX1_HUMAN Homo sapiens HESX homeobox 1 (HESX1), mRNA. 147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) TCTTCCTCTAGATTCAATTTT 0.274000 22 24 0 0 0.006320 0 0 LRP2 4036 broad.mit.edu 37 2 170150722 170150722 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:170150722G>A uc002ues.3 - 5 801 c.588C>T c.(586-588)atC>atT p.I196I LRP2_uc010zdf.1_Silent_p.I196I NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 196 LDL-receptor class A 5. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGCACGAGGGATACACTCTC 0.438000 55 48 0 0 0.014410 0 0 DUSP2 1844 broad.mit.edu 37 2 96809649 96809649 + Silent SNP G A A rs147952657 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:96809649G>A uc002svk.4 - 3 944 c.858C>T c.(856-858)ttC>ttT p.F286F NM_004418 NP_004409 Q05923 DUS2_HUMAN Homo sapiens dual specificity phosphatase 2 (DUSP2), mRNA. 286 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) GCTGCTTAACGAAGTCAAAGG 0.617000 8 13 0 0 0.013537 0 0 KRT36 8689 broad.mit.edu 37 17 39643322 39643322 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:39643322G>A uc002hwt.3 - 5 1088 c.1088C>T c.(1087-1089)tCt>tTt p.S363F NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 363 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GCGGATCTCAGACAGCTGGGC 0.637000 61 58 0 0 0.014410 0 0 CCDC132 55610 broad.mit.edu 37 7 92970754 92970754 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:92970754C>T uc003umo.3 + 22 2202 c.2074C>T c.(2074-2076)Cct>Tct p.P692S CCDC132_uc003ump.3_Missense_Mutation_p.P662S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.P412S NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. 692 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TTCAGCTGATCCTACTGCCAC 0.393000 16 16 0 0 0.004007 0 0 DNAH10 196385 broad.mit.edu 37 12 124323164 124323164 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:124323164C>T uc001uft.4 + 27 4735 c.4710C>T c.(4708-4710)ttC>ttT p.F1570F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1570 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGTTCTTCTTCATTTCTGACG 0.527000 52 47 0 0 0.014410 0 0 LRFN5 145581 broad.mit.edu 37 14 42356124 42356124 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:42356124G>A uc001wvm.3 + 2 1494 c.296G>A c.(295-297)cGa>cAa p.R99Q LRFN5_uc010ana.3_Missense_Mutation_p.R99Q NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 99 integral to membrane p.R99L(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GCTGACCTACGAAATTTGAGG 0.358000 HNSCC(30;0.082) 29 39 0 0 0.005524 0 0 TACR3 6870 broad.mit.edu 37 4 104577402 104577402 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:104577402G>A uc003hxe.1 - 2 978 c.837C>T c.(835-837)atC>atT p.I279I NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 279 integral to plasma membrane tachykinin receptor activity p.E278K(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TATCTCCTGGGATTTCTCCTC 0.403000 52 47 0 0 0.014410 0 0 CDH6 1004 broad.mit.edu 37 5 31323152 31323152 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:31323152C>T uc003jhe.2 + 11 2470 c.2110C>T c.(2110-2112)Cca>Tca p.P704S NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 704 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCGACGGACTCCAACAGCTCG 0.522000 31 22 0 0 0.012319 0 0 SPAG16 79582 broad.mit.edu 37 2 214204952 214204952 + Missense_Mutation SNP G A A rs144854983 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:214204952G>A uc002veq.3 + 5 694 c.602G>A c.(601-603)cGa>cAa p.R201Q SPAG16_uc010fuz.2_Missense_Mutation_p.R52Q|SPAG16_uc002ver.3_Missense_Mutation_p.R147Q|SPAG16_uc010zjk.2_Missense_Mutation_p.R107Q|SPAG16_uc002ves.1_Missense_Mutation_p.R170Q NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 201 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CATCATAAGCGAATAGTCCAG 0.284000 21 19 0 0 0.012319 0 0 ACRC 93953 broad.mit.edu 37 X 70823746 70823746 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:70823746G>A uc004eae.2 + 7 1120 c.619G>A c.(619-621)Gac>Aac p.D207N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN Homo sapiens acidic repeat containing (ACRC), mRNA. 207 Asp/Ser-rich. nucleus p.D206D(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TTCATCCGACGACAACAGTGA 0.498000 134 103 0 0 0.014410 0 0 C3orf56 285311 broad.mit.edu 37 3 126916203 126916203 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:126916203C>T uc003eji.1 + 1 915 c.675C>T c.(673-675)tcC>tcT p.S225S RecName: Full=Putative uncharacterized protein C3orf56; breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CGGGCTGCTCCCGCTCCTCCT 0.627000 6 6 0 0 0.001984 0 0 CDH12 1010 broad.mit.edu 37 5 21842282 21842282 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:21842282G>A uc010iuc.2 - 4 1260 c.802C>T c.(802-804)Cga>Tga p.R268* CDH12_uc011cno.1_Nonsense_Mutation_p.R228*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R268* NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 268 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TTGGGGAATCGAGGTGGATTG 0.403000 HNSCC(59;0.17) 47 48 0 0 0.014410 0 0 DHRS9 10170 broad.mit.edu 37 2 169938087 169938087 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:169938087G>A uc010zdc.2 + 1 288 c.176G>A c.(175-177)gGa>gAa p.G59E DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR NM_199204 NP_954674 Q9BPW9 DHRS9_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA. 0 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 CACACAGGGGGAAAAATGCTC 0.383000 33 24 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179537423 179537423 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179537423C>T uc021vsy.1 - 147 31116 c.30891G>A c.(30889-30891)aaG>aaA p.K10297K MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K6958K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11224 Glu-rich.|Pro-rich. 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) CAGGAATTTTCTTTGACACTT 0.363000 13 9 0 0 0.008291 0 0 TLE4 7091 broad.mit.edu 37 9 82324555 82324555 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:82324555C>T uc004ald.3 + 14 2205 c.1356C>T c.(1354-1356)caC>caT p.H452H TLE4_uc004alc.3_Silent_p.H427H|TLE4_uc010mpr.3_Silent_p.H306H|TLE4_uc004ale.3_Silent_p.H64H|TLE4_uc011lsq.2_Silent_p.H395H|TLE4_uc010mps.3_Silent_p.H351H|TLE4_uc004alf.3_Silent_p.H366H NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTGATCCACACCATCACATGC 0.413000 4 21 0 0 0.002780 0 0 FSCB 84075 broad.mit.edu 37 14 44974330 44974330 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:44974330C>T uc001wvn.3 - 0 2170 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 621 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GGCTGAACTTCAGCGGGGGCC 0.622000 14 15 0 0 0.010504 0 0 IL1RL2 8808 broad.mit.edu 37 2 102835524 102835524 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:102835524G>A uc002tbs.3 + 6 962 c.836G>A c.(835-837)cGa>cAa p.R279Q IL1RL2_uc002tbt.3_Missense_Mutation_p.R161Q NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA. 279 Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 GAATCCAAACGAATCAGAGAA 0.403000 52 29 0 0 0.003271 0 0 ZNF639 51193 broad.mit.edu 37 3 179051528 179051528 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:179051528C>T uc003fjr.1 + 6 1221 c.776C>T c.(775-777)cCc>cTc p.P259L ZNF639_uc003fjq.1_Missense_Mutation_p.P259L NM_016331 NP_057415 Q9UID6 ZN639_HUMAN Homo sapiens zinc finger protein 639 (ZNF639), mRNA. 259 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GAAGAGGATCCCTACATTTGT 0.383000 40 34 0 0 0.013726 0 0 CACNA1C 775 broad.mit.edu 37 12 2224556 2224556 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:2224556C>T uc009zdu.1 + 1 529 c.216C>T c.(214-216)acC>acT p.T72T CACNA1C_uc001qkc.2_Silent_p.T72T|CACNA1C_uc001qjz.2_Silent_p.T72T|CACNA1C_uc001qkd.2_Silent_p.T72T|CACNA1C_uc001qke.2_Silent_p.T72T|CACNA1C_uc001qkf.2_Silent_p.T72T|CACNA1C_uc009zdw.1_Silent_p.T72T|CACNA1C_uc001qkg.2_Silent_p.T72T|CACNA1C_uc001qkh.2_Silent_p.T72T|CACNA1C_uc001qkl.2_Silent_p.T72T|CACNA1C_uc001qkj.2_Silent_p.T72T|CACNA1C_uc001qkk.2_Silent_p.T72T|CACNA1C_uc001qkn.2_Silent_p.T72T|CACNA1C_uc001qkm.2_Silent_p.T72T|CACNA1C_uc001qko.2_Silent_p.T72T|CACNA1C_uc001qkp.2_Silent_p.T72T|CACNA1C_uc001qkq.2_Silent_p.T72T|CACNA1C_uc001qku.2_Silent_p.T72T|CACNA1C_uc001qkr.2_Silent_p.T72T|CACNA1C_uc001qks.2_Silent_p.T72T|CACNA1C_uc001qkt.2_Silent_p.T72T|CACNA1C_uc009zdv.1_Silent_p.T72T|CACNA1C_uc001qkb.2_Silent_p.T72T NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 72 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCAATGCGACCATCTCCACAG 0.687000 2 6 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179478624 179478624 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179478624G>A uc021vsy.1 - 211 41907 c.41682C>T c.(41680-41682)atC>atT p.I13894I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I7589I|TTN_uc021vta.1_Silent_p.I7522I|TTN_uc021vtb.1_Silent_p.I7397I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14821 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) CGTCTTTAGTGATATCAGAAG 0.428000 86 56 0 0 0.014410 0 0 RNF31 55072 broad.mit.edu 37 14 24620500 24620500 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:24620500C>T uc001wmn.1 + 8 1898 c.1649C>T c.(1648-1650)tCc>tTc p.S550F RNF31_uc001wml.1_Missense_Mutation_p.S399F|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Intron|RNF31_uc001wmo.1_Missense_Mutation_p.S17F|RNF31_uc001wmp.3_Non-coding_Transcript NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 550 CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination CD40 receptor complex|LUBAC complex|internal side of plasma membrane ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GGTGCCTTTTCCTGTCAGGAG 0.607000 20 22 0 0 0.002780 0 0 IPO5 3843 broad.mit.edu 37 13 98671974 98671974 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:98671974C>T uc001vne.3 + 26 3210 c.3030C>T c.(3028-3030)gtC>gtT p.V1010V NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 992 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TTGAAGAGGTCCTTCCACACT 0.408000 48 31 0 0 0.013726 0 0 DCLK3 85443 broad.mit.edu 37 3 36759603 36759603 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:36759603G>A uc003cgi.2 - 3 2142 c.1651C>T c.(1651-1653)Ccc>Tcc p.P551S NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 551 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.P551S(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CGGAATGGGGGAAAGCCACAC 0.557000 103 68 0 0 0.014410 0 0 FAM83A 84985 broad.mit.edu 37 8 124219538 124219538 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:124219538C>T uc003ypv.3 + 4 2929 c.915C>T c.(913-915)gtC>gtT p.V305V FAM83A_uc003ypw.3_Silent_p.V305V|FAM83A_uc003ypx.3_Silent_p.V305V|FAM83A_uc003ypy.3_Silent_p.V249V|FAM83A_uc003ypz.3_Silent_p.V305V NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 305 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CGCGGCTGGTCGCCCCCGTCC 0.692000 10 9 0 0 0.006214 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599324 151599324 + Missense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:151599324C>A uc003ezf.2 + 2 1098 c.993C>A c.(991-993)ttC>ttA p.F331L NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 331 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TACTTTCATTCAGAGAAAAGT 0.418000 32 21 1.10513e-12 1.49446e-12 0.014323 1 0 LCE1F 353137 broad.mit.edu 37 1 152748928 152748928 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:152748928G>A uc010pdv.2 + 0 81 c.81G>A c.(79-81)ccG>ccA p.P27P NM_178354 NP_848131 Q5T754 LCE1F_HUMAN Homo sapiens late cornified envelope 1F (LCE1F), mRNA. 27 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) gccccacaccgaagtgccccc 0.657000 3 80 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 14 106877891 106877891 + RNA SNP G A A rs149688840 by1000genomes TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:106877891G>A uc021ser.1 - 409 c.13034C>T Parts of antibodies, mostly variable regions. ACCAGTCCTGGGCCCGACTCC 0.602000 23 24 0 0 0.003954 0 0 RAI2 10742 broad.mit.edu 37 X 17819275 17819275 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:17819275C>T uc022btm.1 - 0 856 c.856G>A c.(856-858)Gat>Aat p.D286N RAI2_uc004cyf.3_Missense_Mutation_p.D286N|RAI2_uc004cyg.3_Missense_Mutation_p.D286N|RAI2_uc011miy.2_Missense_Mutation_p.D236N|RAI2_uc022btl.1_Missense_Mutation_p.D286N|RAI2_uc004cyh.4_Missense_Mutation_p.D286N|RAI2_uc010nfa.3_Missense_Mutation_p.D286N NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 286 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TTCAGTTCATCTTTTTCCAGA 0.537000 85 88 0 0 0.014410 0 0 KIAA0564 23078 broad.mit.edu 37 13 42179322 42179322 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:42179322G>A uc001uyj.3 - 39 5038 c.4968C>T c.(4966-4968)atC>atT p.I1656I NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1656 extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TATCCAGGATGATTCGGAGGG 0.433000 42 43 0 0 0.014410 0 0 TP63 8626 broad.mit.edu 37 3 189612184 189612184 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:189612184C>G uc003fry.2 + 13 2025 c.1936C>G c.(1936-1938)Ctc>Gtc p.L646V TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.L552V|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.L467V NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 646 Transactivation inhibition. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCGATTCACCCTCCGCCAGAC 0.562000 HNSCC(45;0.13) 50 41 0 0 0.008740 0 0 FBXO39 162517 broad.mit.edu 37 17 6683602 6683602 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:6683602C>T uc010vtg.2 + 1 535 c.415C>T c.(415-417)Ctg>Ttg p.L139L NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN Homo sapiens F-box protein 39 (FBXO39), mRNA. 139 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 GCTGGACCGCCTGGTATGGAG 0.502000 32 19 0 0 0.008871 0 0 FBXL21 26223 broad.mit.edu 37 5 135276297 135276297 + RNA SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:135276297T>C uc021ydv.1 + 6 c.1091T>C FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript NM_012159 Q9UKT6 FXL21_HUMAN Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA. rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity large_intestine(5)|lung(4) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAATAATAGTGACACTCTAA 0.318000 28 22 0 0 0.003954 0 0 NHLRC3 387921 broad.mit.edu 37 13 39612779 39612779 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:39612779G>T uc001uxc.3 + 0 325 c.3G>T c.(1-3)atG>atT p.M1I PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Missense_Mutation_p.M1I|NHLRC3_uc001uxe.3_Intron NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA. 1 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) GTCTGGTCATGGCGAGATTCT 0.582000 113 6 0.00116845 0.00157353 0.001168 1 0 STAU1 6780 broad.mit.edu 37 20 47741072 47741072 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:47741072G>A uc002xud.3 - 6 1073 c.662C>T c.(661-663)tCg>tTg p.S221L STAU1_uc002xua.3_Missense_Mutation_p.S140L|STAU1_uc002xub.3_Missense_Mutation_p.S146L|STAU1_uc002xuc.3_Missense_Mutation_p.S140L|STAU1_uc002xue.3_Missense_Mutation_p.S140L|STAU1_uc002xuf.3_Missense_Mutation_p.S146L|STAU1_uc002xug.3_Missense_Mutation_p.S221L NM_017453 NP_059348 O95793 STAU1_HUMAN Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA. 221 DRBM 2. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CTCCCCAACCGAAACCTTGGT 0.498000 45 39 0 0 0.008740 0 0 TRPM8 79054 broad.mit.edu 37 2 234891807 234891807 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:234891807C>T uc002vvh.3 + 19 2740 c.2700C>T c.(2698-2700)ttC>ttT p.F900F TRPM8_uc010fyj.3_Silent_p.F478F|TRPM8_uc010fyk.3_Non-coding_Transcript NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 900 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GGTGGATATTCCGTTCGGTCA 0.567000 57 59 0 0 0.014410 0 0 ARMC4 55130 broad.mit.edu 37 10 28284008 28284008 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28284008C>T uc009xky.3 - 1 162 c.64G>A c.(64-66)Gaa>Aaa p.E22K ARMC4_uc001itz.3_Missense_Mutation_p.E22K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 22 binding p.E22K(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGGGTGATTTCGAGGATTCCA 0.453000 35 15 0 0 0.004990 0 0 EPHA7 2045 broad.mit.edu 37 6 93955132 93955132 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:93955132G>A uc003poe.3 - 15 3007 c.2766C>T c.(2764-2766)ttC>ttT p.F922F EPHA7_uc003pof.3_Silent_p.F917F|EPHA7_uc011eac.2_Silent_p.F918F NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 922 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AAAAGGTAGTGAAATCAGGAG 0.363000 6 53 0 0 0.014410 0 0 DUSP27 92235 broad.mit.edu 37 1 167096085 167096085 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:167096085G>A uc001geb.1 + 4 1733 c.1717G>A c.(1717-1719)Gag>Aag p.E573K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 573 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 GCCCGGTGCAGAGGAGGCAGT 0.552000 2 78 0 0 0.014410 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209214792 209214792 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:209214792C>T uc002vcz.3 + 35 5577 c.5419C>T c.(5419-5421)Cct>Tct p.P1807S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1807 PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ACTCATAAATCCTCATGTGGA 0.343000 52 49 0 0 0.014410 0 0 IL17RE 132014 broad.mit.edu 37 3 9948474 9948474 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:9948474C>T uc003btu.3 + 5 575 c.571C>T c.(571-573)Cgc>Tgc p.R191C CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.R151C|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.R35C|IL17RE_uc010hcq.3_Missense_Mutation_p.R151C|IL17RE_uc003btw.3_Missense_Mutation_p.R151C NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA. 151 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) CAAGGGACTTCGCTCTAAAAG 0.532000 76 45 0 0 0.013114 0 0 CD180 4064 broad.mit.edu 37 5 66479840 66479840 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:66479840C>T uc003juy.2 - 2 979 c.831G>A c.(829-831)gaG>gaA p.E277E NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 277 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GGTTGAGGCTCTCAACAGACA 0.468000 35 37 0 0 0.005524 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756472 56756472 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:56756472C>T uc010rjp.2 + 0 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GTATCCTCTTCATTGTATTCC 0.393000 66 41 0 0 0.008740 0 0 ACSL5 51703 broad.mit.edu 37 10 114177625 114177625 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:114177625C>T uc001kzu.3 + 13 1520 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C ACSL5_uc001kzs.3_Missense_Mutation_p.R414C|ACSL5_uc001kzt.3_Missense_Mutation_p.R414C|ACSL5_uc009xxz.3_Missense_Mutation_p.R414C|ACSL5_uc010qrj.2_Missense_Mutation_p.R196C NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 414 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity p.R470C(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CGGAAGGGTTCGTGTAATTGT 0.473000 64 51 0 0 0.014410 0 0 RELN 5649 broad.mit.edu 37 7 103338452 103338452 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:103338452C>T uc022ajr.1 - 9 1151 c.991G>A c.(991-993)Gaa>Aaa p.E331K RELN_uc022ajq.1_Missense_Mutation_p.E331K|RELN_uc010liz.3_Missense_Mutation_p.E331K NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 331 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.E331K(4) 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) CGAAGATTTTCCTGCTTCCAC 0.448000 105 51 0 0 0.014410 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176072429 176072429 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:176072429G>A uc010jkf.1 + 7 1110 c.526G>A c.(526-528)Ggg>Agg p.G176R TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA. 176 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGGTATGTGGGGCCGTCGT 0.617000 18 19 0 0 0.010504 0 0 CLEC4D 338339 broad.mit.edu 37 12 8671720 8671720 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:8671720G>A uc001qun.3 + 3 541 c.348G>A c.(346-348)ggG>ggA p.G116G NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA. 116 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) CAGGGATGGGGGCCCATCTGA 0.488000 18 17 0 0 0.006122 0 0 TACC2 10579 broad.mit.edu 37 10 123844737 123844737 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:123844737G>A uc001lfv.3 + 3 3082 c.2722G>A c.(2722-2724)Ggc>Agc p.G908S TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G908S|TACC2_uc010qtv.2_Missense_Mutation_p.G908S NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 908 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCTCCCCAAAGGCACCCTGTC 0.488000 31 17 0 0 0.004007 0 0 CHST15 51363 broad.mit.edu 37 10 125805533 125805533 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:125805533C>T uc001lhn.3 - 1 930 c.196G>A c.(196-198)Gaa>Aaa p.E66K CHST15_uc001lhm.3_Missense_Mutation_p.E66K|CHST15_uc010que.2_Missense_Mutation_p.E66K|CHST15_uc001lho.3_Missense_Mutation_p.E66K NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA. 66 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CCCCAGTTTTCGTTCCCTTCA 0.463000 34 25 0 0 0.004656 0 0 LRP1B 53353 broad.mit.edu 37 2 141458014 141458014 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:141458014G>A uc002tvj.1 - 40 7576 c.6604C>T c.(6604-6606)Ctt>Ttt p.L2202F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2202 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCAGAAAGATGTATACTT 0.363000 TSP Lung(27;0.18) 48 33 0 0 0.010818 0 0 ADAM22 53616 broad.mit.edu 37 7 87759722 87759722 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:87759722C>T uc003ujn.3 + 9 988 c.773C>T c.(772-774)tCc>tTc p.S258F ADAM22_uc003ujj.2_Missense_Mutation_p.S258F|ADAM22_uc003ujk.2_Missense_Mutation_p.S258F|ADAM22_uc003ujl.2_Missense_Mutation_p.S258F|ADAM22_uc003ujm.3_Missense_Mutation_p.S258F|ADAM22_uc003ujo.3_Missense_Mutation_p.S258F|ADAM22_uc003ujp.1_Missense_Mutation_p.S310F NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 258 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CATCGGCTTTCCGTTGTACAT 0.368000 60 35 0 0 0.005524 0 0 TNXB 7148 broad.mit.edu 37 6 32021304 32021304 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32021304C>T uc003nzl.2 - 24 8848 c.8646G>A c.(8644-8646)caG>caA p.Q2882Q NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2931 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 CCACCTTGGGCTGCCCATCCC 0.632000 477 208 0 0 0.014410 0 0 FAM82A1 151393 broad.mit.edu 37 2 38179109 38179109 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:38179109C>T uc002rqn.2 + 1 877 c.751C>T c.(751-753)Cct>Tct p.P251S FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 0 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 TTTCCTTCATCCTCGTCCTGA 0.398000 52 38 0 0 0.006999 0 0 ZNF317 57693 broad.mit.edu 37 19 9267342 9267342 + Missense_Mutation SNP C T T rs141551247 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9267342C>T uc002mku.3 + 2 385 c.80C>T c.(79-81)tCa>tTa p.S27L ZNF317_uc010xkm.2_Silent_p.F68F|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Missense_Mutation_p.S27L|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA. 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CCTGTTTCTTCAAAAGACCAT 0.527000 83 69 0 0 0.014410 0 0 SLC25A34 284723 broad.mit.edu 37 1 16064662 16064662 + Silent SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:16064662T>A uc001axb.1 + 2 691 c.519T>A c.(517-519)gcT>gcA p.A173A NM_207348 NP_997231 Q6PIV7 S2534_HUMAN Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA. 173 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGGTGGGGCTGTGCCCCGAG 0.662000 2 35 0 0 0.004878 0 0 WNT8B 7479 broad.mit.edu 37 10 102238824 102238824 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:102238824C>T uc001krb.3 + 1 198 c.84C>T c.(82-84)ttC>ttT p.F28F NM_003393 NP_003384 Q93098 WNT8B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA. 28 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) TGAACAATTTCCTGATGACTG 0.333000 19 18 0 0 0.010504 0 0 ZNF827 152485 broad.mit.edu 37 4 146686844 146686844 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:146686844G>A uc003ikn.3 - 11 2955 c.2907C>T c.(2905-2907)tcC>tcT p.S969S ZNF827_uc003ikm.3_Silent_p.S969S|ZNF827_uc010iox.3_Silent_p.S619S|ZNF827_uc003ikl.3_Silent_p.S54S NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 969 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CTGAGAGGGAGGATGAAGAGG 0.463000 51 42 0 0 0.014410 0 0 CDH6 1004 broad.mit.edu 37 5 31317547 31317547 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:31317547C>T uc003jhe.2 + 9 1938 c.1578C>T c.(1576-1578)tcC>tcT p.S526S CDH6_uc003jhd.2_Silent_p.S526S NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTCGTTTTCCTTGGCCCCTG 0.408000 41 46 0 0 0.014410 0 0 LSAMP 4045 broad.mit.edu 37 3 115805321 115805321 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:115805321G>A uc011bis.2 - 1 745 c.238C>T c.(238-240)Ctg>Ttg p.L80L LSAMP_uc003ebs.3_Silent_p.L80L NM_002338 NP_002329 Q13449 LSAMP_HUMAN Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA. 80 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane p.L80L(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CGTGGGTCCAGAGACCACTTG 0.502000 39 33 0 0 0.004289 0 0 MTUS2 23281 broad.mit.edu 37 13 29933550 29933550 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:29933550G>A uc001usl.4 + 5 3145 c.3087G>A c.(3085-3087)ctG>ctA p.L1029L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 1019 Localization to the growing distal tip of microtubules. 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 AAGGGGAGCTGAAGAGGGCCA 0.627000 6 8 0 0 0.004482 0 0 CNNM2 54805 broad.mit.edu 37 10 104816573 104816573 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:104816573C>T uc001kwm.3 + 3 2088 c.1925C>T c.(1924-1926)tCc>tTc p.S642F CNNM2_uc001kwn.3_Missense_Mutation_p.S642F NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA. 642 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TTTAGCCCATCCCAGATGTCA 0.363000 25 22 0 0 0.012319 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912384 101912384 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:101912384G>A uc010nod.3 + 2 4185 c.3543G>A c.(3541-3543)atG>atA p.M1181I ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M1181I|GPRASP1_uc004ejj.4_Missense_Mutation_p.M1181I|GPRASP1_uc004eji.4_Missense_Mutation_p.M1181I|GPRASP1_uc022cbd.1_Missense_Mutation_p.M1181I NM_001099411 NP_055525 Q5JY77 GASP1_HUMAN Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA. 1181 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAATGGGTATGAGAAGTGCTT 0.358000 44 37 0 0 0.005524 0 0 LGI2 55203 broad.mit.edu 37 4 25028503 25028503 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:25028503G>A uc003grf.2 - 2 427 c.328C>T c.(328-330)Cat>Tat p.H110Y NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 110 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TATTCAAGATGAAAAAGTCCA 0.388000 37 47 0 0 0.014410 0 0 ANO3 63982 broad.mit.edu 37 11 26664794 26664794 + Missense_Mutation SNP T G G rs11825056 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:26664794T>G uc001mqt.4 + 22 2486 c.2341T>G c.(2341-2343)Tta>Gta p.L781V ANO3_uc010rdr.2_Missense_Mutation_p.L765V|ANO3_uc010rds.2_Missense_Mutation_p.L620V|ANO3_uc010rdt.2_Missense_Mutation_p.L635V NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 781 L -> V (in dbSNP:rs11825056). chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTTGGCTTTGTTAAACAATAT 0.408000 45 44 0 0 0.014410 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089079 43089079 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:43089079G>A uc001jaf.1 - 4 1434 c.1319C>T c.(1318-1320)cCc>cTc p.P440L ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.P328L|ZNF33B_uc001jad.3_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN Homo sapiens zinc finger protein 33B (ZNF33B), mRNA. 440 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ACATTCATAGGGTTTCTGCCC 0.408000 28 40 0 0 0.006999 0 0 CHD6 84181 broad.mit.edu 37 20 40033886 40033886 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:40033886G>A uc002xka.1 - 36 7673 c.7495C>T c.(7495-7497)Cca>Tca p.P2499S CHD6_uc002xjz.1_Missense_Mutation_p.P36S NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 2499 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AAGCCAGCTGGAAACCCCACC 0.557000 35 29 0 0 0.010818 0 0 SDAD1 55153 broad.mit.edu 37 4 76891466 76891466 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:76891466G>A uc003hje.4 - 9 998 c.879C>T c.(877-879)ccC>ccT p.P293P SDAD1_uc003hjf.4_Silent_p.P196P|SDAD1_uc011cbr.2_Silent_p.P256P NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA. 293 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACGTACCTTGGGGATCATGAA 0.398000 25 39 0 0 0.010771 0 0 TCRBV12S3 0 broad.mit.edu 37 7 142206592 142206592 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:142206592G>A uc003vyj.2 - 1 310 c.263C>T c.(262-264)tCc>tTc p.S88F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; CTCTGTCTTGGATCTGGAGAC 0.527000 60 87 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13841969 13841969 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:13841969C>T uc003jfd.2 - 32 5358 c.5316G>A c.(5314-5316)acG>acA p.T1772T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1772 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCAATTCAATCGTCTCACCCT 0.353000 Kartagener syndrome 50 25 0 0 0.006320 0 0 RREB1 6239 broad.mit.edu 37 6 7247268 7247268 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:7247268C>T uc003mxb.3 + 11 5077 c.4585C>T c.(4585-4587)Ccc>Tcc p.P1529S RREB1_uc021yky.1_Missense_Mutation_p.P1474S|RREB1_uc003mxc.3_Missense_Mutation_p.P1474S|RREB1_uc010jnx.3_Intron|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 1474 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) GACGGAGGGCCCCTCCGACGG 0.677000 11 11 0 0 0.008291 0 0 MATN4 8785 broad.mit.edu 37 20 43933247 43933247 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:43933247G>A uc002xnn.2 - 2 451 c.264C>T c.(262-264)ctC>ctT p.L88L MATN4_uc002xnp.2_Silent_p.L88L|MATN4_uc002xno.2_Silent_p.L88L|MATN4_uc010zwr.1_Silent_p.L36L|MATN4_uc002xnr.1_Silent_p.L88L|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 88 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AGAACGCGCGGAGAGGGAAGA 0.642000 20 12 0 0 0.004007 0 0 NLRP9 338321 broad.mit.edu 37 19 56244308 56244308 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56244308C>T uc002qly.3 - 1 917 c.889G>A c.(889-891)Gga>Aga p.G297R NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 297 NACHT. cytoplasm ATP binding p.G297*(2) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCACTGAATCCTAAGAGCTTT 0.393000 36 27 0 0 0.005443 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136969 40136969 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:40136969G>A uc021qgf.1 - 0 874 c.874C>T c.(874-876)Cat>Tat p.H292Y LRRC4C_uc001mxc.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxa.1_Missense_Mutation_p.H292Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H288Y NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 292 regulation of axonogenesis integral to membrane protein binding p.H291H(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CGCTCTAGATGATGCAAGGGA 0.468000 55 55 0 0 0.014410 0 0 RILPL2 196383 broad.mit.edu 37 12 123915204 123915204 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:123915204C>T uc001uey.1 - 1 639 c.342G>A c.(340-342)gtG>gtA p.V114V NM_145058 NP_659495 Q969X0 RIPL2_HUMAN Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA. 114 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) GGCCCAGGTTCACCTGGAAGA 0.443000 33 25 0 0 0.004656 0 0 DNAH10 196385 broad.mit.edu 37 12 124371737 124371737 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:124371737G>A uc001uft.4 + 50 8543 c.8518G>A c.(8518-8520)Gaa>Aaa p.E2840K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2840 AAA 4 (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) CAGTTTCCGGGAAGACCTGAA 0.547000 9 22 0 0 0.014323 0 0 LCE1B 353132 broad.mit.edu 37 1 152784973 152784973 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:152784973C>G uc001faq.3 + 0 527 c.51C>G c.(49-51)atC>atG p.I17M NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN Homo sapiens late cornified envelope 1B (LCE1B), mRNA. 17 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ccaagtgcatccccaagtgcc 0.602000 2 144 0 0 0.014410 0 0 XIST 7503 broad.mit.edu 37 X 73072336 73072336 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:73072336C>T uc004ebm.1 - 0 c.253G>A Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. CAAAATATTCCAAATACTTTC 0.264000 19 5 0 0 0.000602 0 0 ZXDB 158586 broad.mit.edu 37 X 57619480 57619480 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:57619480C>T uc004dvd.3 + 0 1212 c.999C>T c.(997-999)ccC>ccT p.P333P NM_007157 NP_009088 P98169 ZXDB_HUMAN Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA. 333 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 AACTGCGGCCCTTTGGCTGCC 0.597000 13 19 0 0 0.008871 0 0 BCAS3 54828 broad.mit.edu 37 17 59067440 59067440 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:59067440C>T uc002iyv.4 + 14 1439 c.1330C>T c.(1330-1332)Cgt>Tgt p.R444C BCAS3_uc010wow.1_Missense_Mutation_p.R231C|BCAS3_uc002iyu.4_Missense_Mutation_p.R444C|BCAS3_uc002iyw.4_Missense_Mutation_p.R440C|BCAS3_uc002iyx.1_Missense_Mutation_p.R259C|BCAS3_uc002iyy.4_Missense_Mutation_p.R215C|BCAS3_uc002iyz.4_5'UTR|BCAS3_uc002iza.4_5'UTR NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 444 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GCCTTGTGTTCGTACACATAT 0.512000 29 25 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237995876 237995876 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:237995876C>T uc001hyl.1 + 104 14953 c.14833C>T c.(14833-14835)Caa>Taa p.Q4945* RYR2_uc010pyb.1_3'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4945 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R4945S(2) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAGATGTATCAAGAAAGGTG 0.383000 4 47 0 0 0.014410 0 0 CLVS1 157807 broad.mit.edu 37 8 62289259 62289259 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:62289259T>A uc003xuh.3 + 2 875 c.551T>A c.(550-552)aTa>aAa p.I184K CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 184 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATTTTAATTATAGACTGGAGT 0.428000 30 36 0 0 0.004878 0 0 SLC1A6 6511 broad.mit.edu 37 19 15072875 15072875 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:15072875G>A uc002naa.1 - 4 881 c.874C>T c.(874-876)Ctc>Ttc p.L292F SLC1A6_uc010dzu.1_Missense_Mutation_p.L292F|SLC1A6_uc010xod.1_Missense_Mutation_p.L228F|SLC1A6_uc002nab.3_Missense_Mutation_p.L292F|SLC1A6_uc002nac.3_Missense_Mutation_p.L292F NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 292 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AAGTCCCTGAGGACTCTGCCC 0.582000 44 49 0 0 0.014410 0 0 ZFP112 7771 broad.mit.edu 37 19 44890838 44890838 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:44890838C>T uc010xxa.2 - 3 1633 c.1590G>A c.(1588-1590)cgG>cgA p.R530R ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.R523R NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 GATCTGAATTCCGGCTGAAGC 0.413000 34 31 0 0 0.012213 0 0 OR6F1 343169 broad.mit.edu 37 1 247875848 247875848 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247875848C>T uc001idj.1 - 0 210 c.210G>A c.(208-210)gaG>gaA p.E70E NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E70*(1) breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TATACCAAATCTCCAGGAAGG 0.473000 2 130 0 0 0.014410 0 0 SLC12A6 9990 broad.mit.edu 37 15 34536215 34536215 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:34536215G>A uc001zhw.3 - 14 2166 c.2002C>T c.(2002-2004)Cga>Tga p.R668* SLC12A6_uc001zhv.3_Nonsense_Mutation_p.R617*|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Nonsense_Mutation_p.R653*|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Nonsense_Mutation_p.R609*|SLC12A6_uc001zib.3_Nonsense_Mutation_p.R659*|SLC12A6_uc001zic.3_Nonsense_Mutation_p.R668*|SLC12A6_uc010bau.3_Nonsense_Mutation_p.R668*|SLC12A6_uc001zid.3_Nonsense_Mutation_p.R609*|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Nonsense_Mutation_p.R480* NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 668 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TTGGGTGTTCGAAGTAATGTT 0.393000 49 53 0 0 0.014410 0 0 UGT2B7 7364 broad.mit.edu 37 4 69964335 69964335 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:69964335C>T uc003heg.4 + 1 845 c.799C>T c.(799-801)Cca>Tca p.P267S UGT2B7_uc010ihq.3_Missense_Mutation_p.P267S NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 267 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.P267P(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTTTCAGTTTCCATATCCACT 0.393000 132 57 0 0 0.014410 0 0 DNAH7 56171 broad.mit.edu 37 2 196722110 196722110 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:196722110G>A uc002utj.4 - 43 8506 c.8405C>T c.(8404-8406)tCa>tTa p.S2802L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2802 Stalk (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 CTTATCATATGAATCCATTGC 0.343000 37 40 0 0 0.009718 0 0 EYS 346007 broad.mit.edu 37 6 66044932 66044932 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:66044932A>T uc011dxu.1 - 10 2245 c.1707T>A c.(1705-1707)gaT>gaA p.D569E EYS_uc003peq.3_Missense_Mutation_p.D569E|EYS_uc003per.1_Missense_Mutation_p.D569E|EYS_uc021zbn.1_Missense_Mutation_p.D569E NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA. 569 EGF-like 6. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTTCTTGATCATCAGTTGTAT 0.348000 2 27 0 0 0.003954 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106066550 106066550 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:106066550G>A uc004emo.3 + 4 846 c.681G>A c.(679-681)gaG>gaA p.E227E MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Silent_p.E227E|TBC1D8B_uc004emn.3_Silent_p.E227E NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 227 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCCAAGGAGAGAATCACTACT 0.363000 53 29 0 0 0.010818 0 0 BOD1 91272 broad.mit.edu 37 5 173040185 173040185 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:173040185G>A uc003mcq.2 - 1 538 c.311C>T c.(310-312)cCt>cTt p.P104L BOD1_uc003mcr.2_Missense_Mutation_p.P104L NM_138369 NP_612378 Q96IK1 BOD1_HUMAN Homo sapiens biorientation of chromosomes in cell division 1 (BOD1), transcript variant 1, mRNA. 104 cell division|mitosis condensed chromosome kinetochore|microtubule organizing center endometrium(1)|large_intestine(2)|lung(2)|ovary(2) 7 GTTCATCGTAGGATTCCATTC 0.413000 67 66 0 0 0.014410 0 0 CCDC8 83987 broad.mit.edu 37 19 46914618 46914618 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:46914618C>T uc002pep.3 - 0 2302 c.1450G>A c.(1450-1452)Gga>Aga p.G484R NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA. 484 plasma membrane p.P483T(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GAAAAGCGTCCAGGGGTCTGG 0.612000 27 28 0 0 0.006320 0 0 DCC 1630 broad.mit.edu 37 18 50278518 50278518 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:50278518C>T uc002lfe.2 + 1 802 c.186C>T c.(184-186)tcC>tcT p.S62S DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 62 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCGACTGCTCCGCGGAGTCCG 0.502000 21 20 0 0 0.008871 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751195 26751195 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:26751195C>T uc003cdp.3 + 1 621 c.32C>T c.(31-33)tCc>tTc p.S11F LRRC3B_uc003cdq.3_Missense_Mutation_p.S11F|LRRC3B_uc021wuj.1_Missense_Mutation_p.S11F NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 11 integral to membrane p.R10H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TTAACCCGTTCCCTCTCCATG 0.478000 74 60 0 0 0.014410 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669980 24669980 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:24669980G>A uc001iru.4 + 2 940 c.537G>A c.(535-537)acG>acA p.T179T KIAA1217_uc001irs.3_Silent_p.T99T|KIAA1217_uc001irt.4_Silent_p.T179T|KIAA1217_uc010qcy.2_Silent_p.T179T|KIAA1217_uc010qcz.2_Silent_p.T179T|KIAA1217_uc001irv.1_Silent_p.T29T|KIAA1217_uc010qda.1_Non-coding_Transcript NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 179 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCAACCAGACGAAAGAAAGAT 0.478000 35 25 0 0 0.004656 0 0 FASN 2194 broad.mit.edu 37 17 80046411 80046411 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:80046411G>A uc002kdu.3 - 15 2565 c.2448C>T c.(2446-2448)ttC>ttT p.F816F FASN_uc002kdw.1_Silent_p.F32F NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 816 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CCACAGGTGGGAACAAGGCAT 0.657000 22 18 0 0 0.014323 0 0 NFKB1 4790 broad.mit.edu 37 4 103534712 103534712 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:103534712C>T uc011ceq.2 + 22 3187 c.2720C>T c.(2719-2721)tCg>tTg p.S907L NFKB1_uc011cep.2_Missense_Mutation_p.S908L|NFKB1_uc011cer.2_Missense_Mutation_p.S727L NM_001165412 NP_001158884 P19838 NFKB1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA. 907 Interaction with CFLAR. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CTGCCTCTCTCGCCTGCCTCC 0.527000 18 15 0 0 0.007413 0 0 SLC28A2 9153 broad.mit.edu 37 15 45559899 45559899 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:45559899G>A uc001zva.2 + 11 1169 c.1104G>A c.(1102-1104)atG>atA p.M368I NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 368 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CCTCTGTGATGGCCGCCCCTT 0.552000 62 52 0 0 0.014410 0 0 DSC2 1824 broad.mit.edu 37 18 28648096 28648096 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:28648096G>A uc002kwl.4 - 15 3045 c.2591C>T c.(2590-2592)tCg>tTg p.S864L DSC2_uc002kwk.4_3'UTR NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 864 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CCCAGCCACCGATCCTCTTCC 0.423000 46 28 0 0 0.005443 0 0 PRPS2 5634 broad.mit.edu 37 X 12827410 12827410 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:12827410G>A uc004cva.3 + 2 516 c.373G>A c.(373-375)Gat>Aat p.D125N PRPS2_uc004cvb.3_Missense_Mutation_p.D122N|PRPS2_uc010nec.3_Missense_Mutation_p.D58N NM_001039091 NP_001034180 P11908 PRPS2_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA. 122 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 GGCTGGGGCGGATCACATCAT 0.398000 75 59 0 0 0.014410 0 0 BAAT 570 broad.mit.edu 37 9 104133497 104133497 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:104133497A>G uc010mtd.3 - 1 299 c.190T>C c.(190-192)Tct>Cct p.S64P BAAT_uc004bbd.4_Missense_Mutation_p.S64P NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 64 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CCAAGTGAAGAAGCATGATTC 0.443000 6 39 0 0 0.007835 0 0 LRRC46 90506 broad.mit.edu 37 17 45911879 45911879 + Missense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:45911879C>A uc002ima.3 + 2 568 c.205C>A c.(205-207)Cac>Aac p.H69N MRPL10_uc002ily.3_5'Flank|MRPL10_uc002ilz.3_5'Flank|MRPL10_uc010wky.2_5'Flank|LRRC46_uc002imb.3_5'UTR NM_033413 NP_219481 Q96FV0 LRC46_HUMAN Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA. 69 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 CCAGAATCTTCACAGTCTCTA 0.517000 49 33 3.67414e-24 4.99158e-24 0.012213 1 0 COL11A1 1301 broad.mit.edu 37 1 103385916 103385916 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:103385916G>A uc001dum.3 - 48 4067 c.3749C>T c.(3748-3750)cCa>cTa p.P1250L COL11A1_uc001duk.3_Missense_Mutation_p.P434L|COL11A1_uc001dul.3_Missense_Mutation_p.P1238L|COL11A1_uc001dun.3_Missense_Mutation_p.P1199L|COL11A1_uc009weh.3_Missense_Mutation_p.P1122L NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1238 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) GGGTCCTTGTGGTCCCTGCAG 0.358000 12 140 0 0 0.014410 0 0 CARD11 84433 broad.mit.edu 37 7 2962334 2962334 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:2962334C>T uc003smv.3 - 16 2537 c.2203G>A c.(2203-2205)Gaa>Aaa p.E735K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 735 PDZ. 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) CAGTGGGCTTCCTCTTTGGTG 0.617000 Mis DLBCL 41 28 0 0 0.008361 0 0 OR6T1 219874 broad.mit.edu 37 11 123814495 123814495 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:123814495G>A uc010sab.2 - 0 51 c.51C>T c.(49-51)ttC>ttT p.F17F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GGCTACTGGGGAAACCCAGAA 0.473000 7 43 0 0 0.011902 0 0 GRM3 2913 broad.mit.edu 37 7 86394884 86394884 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:86394884C>T uc003uid.3 + 1 1522 c.423C>T c.(421-423)ctC>ctT p.L141L GRM3_uc010lef.3_Silent_p.L139L|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 141 synaptic transmission integral to plasma membrane 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) TCCCACTTCTCATTGCAGGGG 0.413000 46 25 0 0 0.005443 0 0 AFF2 2334 broad.mit.edu 37 X 148044272 148044272 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:148044272A>C uc004fcp.3 + 12 3197 c.2718A>C c.(2716-2718)agA>agC p.R906S AFF2_uc004fcq.3_Missense_Mutation_p.R896S|AFF2_uc004fcr.3_Missense_Mutation_p.R867S|AFF2_uc011mxb.2_Missense_Mutation_p.R871S|AFF2_uc004fcs.3_Missense_Mutation_p.R873S|AFF2_uc011mxc.2_Missense_Mutation_p.R547S NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 906 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) GAGCAAATAGAAGAAAGGAAG 0.433000 15 28 0 0 0.007291 0 0 DUOX2 50506 broad.mit.edu 37 15 45387155 45387155 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:45387155G>A uc001zun.3 - 31 4577 c.4374C>T c.(4372-4374)ttC>ttT p.F1458F DUOX2_uc010bea.3_Silent_p.F1458F NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1458 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) TCCTGAGGTCGAACTTCTCAG 0.587000 28 26 0 0 0.009535 0 0 CSF1R 1436 broad.mit.edu 37 5 149457749 149457749 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:149457749C>G uc003lrl.3 - 3 850 c.655G>C c.(655-657)Gct>Cct p.A219P CSF1R_uc011dcd.2_Missense_Mutation_p.A71P|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.A219P|CSF1R_uc011dce.1_Missense_Mutation_p.A219P|CSF1R_uc011dcf.2_Missense_Mutation_p.A219P NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 219 Ig-like C2-type 3. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ATCTGGGCAGCCTCCCCTCGA 0.592000 42 38 0 0 0.003755 0 0 LILRB3 11025 broad.mit.edu 37 19 54803190 54803190 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:54803190C>T uc002qfd.3 - 3 579 c.487G>A c.(487-489)Gaa>Aaa p.E163K LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 162 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTGGGTGTTCATCTTCTCCT 0.577000 46 47 0 0 0.014410 0 0 OR2C3 81472 broad.mit.edu 37 1 247695083 247695083 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247695083G>A uc021pmb.1 - 0 731 c.731C>T c.(730-732)tCc>tTc p.S244F C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.S244F NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 244 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) AGCCACGTGGGAAGAACAGGT 0.557000 74 56 0 0 0.014410 0 0 PRR23C 389152 broad.mit.edu 37 3 138762818 138762818 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:138762818G>A uc011bmt.1 - 0 917 c.645C>T c.(643-645)ttC>ttT p.F215F NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN Homo sapiens proline rich 23C (PRR23C), mRNA. 215 Pro-rich. breast(2)|lung(7)|skin(2) 11 ATTCCAGGTCGAAGATGGGGC 0.647000 6 6 0 0 0.001984 0 0 DACH1 1602 broad.mit.edu 37 13 72255972 72255972 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:72255972G>A uc021rkj.1 - 1 1348 c.925C>T c.(925-927)Cat>Tat p.H309Y DACH1_uc021rkk.1_Missense_Mutation_p.H309Y|DACH1_uc021rkl.1_Missense_Mutation_p.H309Y NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 307 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GGGACAGAATGCGGCATGATG 0.423000 32 28 0 0 0.012213 0 0 FAM83B 222584 broad.mit.edu 37 6 54805839 54805839 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:54805839G>A uc003pck.3 + 4 2186 c.2070G>A c.(2068-2070)agG>agA p.R690R NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 690 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) CACTTACCAGGAATCGAGTTA 0.383000 35 34 0 0 0.003755 0 0 GDPD5 81544 broad.mit.edu 37 11 75153561 75153561 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:75153561G>A uc001owo.4 - 12 1551 c.1014C>T c.(1012-1014)tcC>tcT p.S338S GDPD5_uc001owp.4_Silent_p.S338S|GDPD5_uc001own.4_Silent_p.S93S|GDPD5_uc009yuc.3_Silent_p.S200S|GDPD5_uc009yud.3_Silent_p.S219S NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 338 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GGCTGCAGATGGACTGGTTCT 0.642000 19 12 0 0 0.002450 0 0 OR1J1 347168 broad.mit.edu 37 9 125239349 125239349 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:125239349T>C uc011lyu.2 - 0 857 c.857A>G c.(856-858)aAc>aGc p.N286S OR1J2_uc004bmj.2_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N286K(1) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AATGAATGGGTTCAACATGGG 0.428000 4 52 0 0 0.014410 0 0 SORCS3 22986 broad.mit.edu 37 10 106918692 106918693 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:106918692_106918693CC>TT uc001kyi.1 + 10 1899_1900 c.1672_1673CC>TT c.(1672-1674)cca>TTa p.P558L NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 558 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCTGAAAATCCATATTCCTCA 0.450000 39 26 0 0 0.004672 0 0 ZFP161 7541 broad.mit.edu 37 18 5291185 5291185 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:5291185G>A uc002kmq.3 - 3 1184 c.1022C>T c.(1021-1023)tCa>tTa p.S341L ZFP161_uc002kmr.3_Missense_Mutation_p.S341L|ZFP161_uc010dkp.3_Missense_Mutation_p.S341L|ZFP161_uc021ugn.1_Missense_Mutation_p.S341L NM_001243702 NP_001230631 O43829 ZF161_HUMAN Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA. 341 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K340Q(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1) 22 ACGGATAAATGATTTTCCACA 0.443000 40 44 0 0 0.009718 0 0 PLRG1 5356 broad.mit.edu 37 4 155461949 155461949 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:155461949G>A uc003iny.3 - 8 950 c.825C>T c.(823-825)ctC>ctT p.L275L PLRG1_uc003inz.3_Silent_p.L266L|PLRG1_uc011cil.2_Silent_p.L114L NM_002669 NP_002660 O43660 PLRG1_HUMAN Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. 275 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) TATTGTATTCGAGATCCCAGC 0.373000 38 47 0 0 0.014410 0 0 UBL7 84993 broad.mit.edu 37 15 74741678 74741678 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:74741678G>A uc002axw.1 - 8 893 c.731C>T c.(730-732)cCc>cTc p.P244L UBL7_uc002axx.1_Missense_Mutation_p.P284L|UBL7_uc002axy.1_Missense_Mutation_p.P244L|UBL7_uc002axz.1_Missense_Mutation_p.P244L NM_032907 NP_957717 Q96S82 UBL7_HUMAN Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA. 244 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 ACTGCTAGAGGGTGTGGACCT 0.597000 10 8 0 0 0.004482 0 0 OR4M2 390538 broad.mit.edu 37 15 22369074 22369074 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:22369074C>T uc010tzu.2 + 0 597 c.499C>T c.(499-501)Cct>Tct p.P167S abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P167A(2) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTTCGACTTCCTTTCTGTGG 0.493000 134 76 0 0 0.014410 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627116 43627116 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:43627116G>A uc011lrb.2 - 3 1600 c.1571C>T c.(1570-1572)tCg>tTg p.S524L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 524 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 TTTATTCTGCGATGCAGGGCA 0.507000 15 135 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 113316962 113316962 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:113316962G>A uc003ynu.3 - 51 8413 c.8254C>T c.(8254-8256)Cca>Tca p.P2752S CSMD3_uc003yns.3_Missense_Mutation_p.P1954S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2712S|CSMD3_uc011lhx.2_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2752 Sushi 16. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGCAATATGGTCTTTCATTT 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 21 0 0 0.002780 0 0 APBB1 322 broad.mit.edu 37 11 6424402 6424402 + Silent SNP G A A rs146910788 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:6424402G>A uc001mdb.1 - 5 1177 c.1077C>T c.(1075-1077)ccC>ccT p.P359P APBB1_uc001mdd.3_Silent_p.P139P|APBB1_uc001mdc.1_Silent_p.P359P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Silent_p.P124P|APBB1_uc009yey.2_Silent_p.P100P|APBB1_uc009yfa.2_Silent_p.P100P|APBB1_uc010rag.1_Silent_p.P100P|APBB1_uc009yfb.2_Silent_p.P100P|APBB1_uc001mde.2_Silent_p.P100P|APBB1_uc010rah.1_Silent_p.P100P NM_001164 NP_001155 O00213 APBB1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA. 359 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TATTCCGTGGGGGAAGCTTCT 0.547000 52 34 0 0 0.004289 0 0 PPP1R2P3 153743 broad.mit.edu 37 5 156277799 156277799 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:156277799C>T uc003lwf.1 + 0 251 c.226C>T c.(226-228)Cat>Tat p.H76Y Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA. p.H76N(1) CCCTCCTTACCATAGTATGAT 0.463000 7 9 0 0 0.004482 0 0 ENGASE 64772 broad.mit.edu 37 17 77082359 77082359 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:77082359C>T uc002jwv.3 + 13 2168 c.2160C>T c.(2158-2160)gtC>gtT p.V720V ENGASE_uc002jww.3_Silent_p.V425V NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 720 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 TGGAGCCTGTCCCCAAGGAAG 0.632000 27 15 0 0 0.003163 0 0 TAS1R2 80834 broad.mit.edu 37 1 19168269 19168269 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:19168269G>A uc001bba.1 - 4 1546 c.1545C>T c.(1543-1545)ttC>ttT p.F515F NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 515 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CGATGCACTCGAAGCAGCAGA 0.597000 3 60 0 0 0.014410 0 0 LONRF2 164832 broad.mit.edu 37 2 100903486 100903486 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:100903486C>T uc002tal.4 - 10 2600 c.1960G>A c.(1960-1962)Gat>Aat p.D654N 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. 654 Lon. 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 TGCACAGAATCGTGGAGAGCG 0.478000 12 17 0 0 0.004007 0 0 MCTP2 55784 broad.mit.edu 37 15 94910902 94910902 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:94910902G>C uc002btj.3 + 9 1435 c.1370G>C c.(1369-1371)tGt>tCt p.C457S MCTP2_uc002bti.2_Missense_Mutation_p.C457S|MCTP2_uc010boj.3_Missense_Mutation_p.C186S|MCTP2_uc010bok.3_Missense_Mutation_p.C457S|MCTP2_uc002btk.4_Missense_Mutation_p.C45S|MCTP2_uc002btl.3_Missense_Mutation_p.C45S NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 457 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CTGGACAGCTGTCTGGGGGCT 0.527000 84 9 0 0 0.006214 0 0 ZFAND4 93550 broad.mit.edu 37 10 46159002 46159002 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:46159002G>A uc001jcp.4 - 1 414 c.172C>T c.(172-174)Cga>Tga p.R58* ZFAND4_uc001jcm.4_Nonsense_Mutation_p.R58*|ZFAND4_uc009xmu.3_5'UTR|ZFAND4_uc001jcn.4_5'UTR|ZFAND4_uc001jco.4_Nonsense_Mutation_p.R58*|ZFAND4_uc001jcq.2_Non-coding_Transcript|ZFAND4_uc001jcr.2_Nonsense_Mutation_p.R58* NM_001128324 NP_777550 Q86XD8 ANUB1_HUMAN Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA. 58 Ubiquitin-like. zinc ion binding TCCAATCTTCGAATTTTTGCT 0.308000 18 9 0 0 0.008291 0 0 abParts 0 broad.mit.edu 37 14 106733361 106733361 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:106733361C>T uc021ser.1 - 876 c.21185G>A Parts of antibodies, mostly variable regions. GAGGGTGTATCCGGAAACCTT 0.562000 81 67 0 0 0.014410 0 0 TCP11 6954 broad.mit.edu 37 6 35087959 35087959 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:35087959G>A uc003okd.2 - 7 1312 c.1131C>T c.(1129-1131)tcC>tcT p.S377S TCP11_uc003ojz.1_Silent_p.S302S|TCP11_uc003oka.2_Silent_p.S302S|TCP11_uc003okb.2_Silent_p.S301S|TCP11_uc011dsu.1_Silent_p.S359S|TCP11_uc003okc.2_Silent_p.S301S|TCP11_uc011dsv.1_Silent_p.S326S|TCP11_uc011dsw.1_Silent_p.S331S NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA. 364 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 CTTCCAACAAGGATTTGGTTA 0.438000 41 20 0 0 0.002780 0 0 OR4A5 81318 broad.mit.edu 37 11 51412363 51412363 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:51412363G>A uc001nhi.2 - 0 86 c.33C>T c.(31-33)gtC>gtT p.V11V NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AGCCCAGGAGGACAAATTCTG 0.423000 18 9 0 0 0.008291 0 0 FAT1 2195 broad.mit.edu 37 4 187554955 187554955 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:187554955G>A uc003izf.3 - 6 4394 c.4206C>T c.(4204-4206)ttC>ttT p.F1402F NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 1402 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGTCCACATCGAAGTGACTGT 0.423000 HNSCC(5;0.00058) 42 29 0 0 0.009535 0 0 DUOX1 53905 broad.mit.edu 37 15 45433598 45433598 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:45433598C>T uc001zus.1 + 14 2020 c.1674C>T c.(1672-1674)gtC>gtT p.V558V DUOX1_uc001zut.1_Silent_p.V558V|DUOX1_uc010bee.1_5'UTR NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 558 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) ATGTCTTTGTCTGGCATAAAG 0.552000 44 20 0 0 0.004656 0 0 CR2 1380 broad.mit.edu 37 1 207646436 207646436 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:207646436T>G uc001hfw.3 + 9 2009 c.1890T>G c.(1888-1890)tgT>tgG p.C630W CR2_uc001hfv.3_Missense_Mutation_p.C630W|CR2_uc009xch.3_Missense_Mutation_p.C630W|CR2_uc009xci.1_Missense_Mutation_p.C115W NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 630 Sushi 10. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CATTCAAGTGTTATAGTGGAT 0.408000 6 129 0 0 0.014410 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140937 143140937 + Missense_Mutation SNP T G G rs78798389 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143140937T>G uc011ktg.2 + 0 392 c.392T>G c.(391-393)tTc>tGc p.F131C LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 131 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CCTGTCTTCTTCTGGCTAAAG 0.493000 72 126 0 0 0.014410 0 0 AKR1D1 6718 broad.mit.edu 37 7 137773491 137773491 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:137773491G>A uc003vtz.3 + 1 325 c.238G>A c.(238-240)Gaa>Aaa p.E80K AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.E80K|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.E80K|AKR1D1_uc011kqe.1_Missense_Mutation_p.E80K|RN7SK_uc022amj.1_5'Flank NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 80 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 GGTGCGGAGGGAAGATATCTT 0.473000 5 5 0 0 0.001168 0 0 LOC440518 440518 broad.mit.edu 37 19 22784257 22784257 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:22784257G>A uc002nqu.4 + 5 c.691G>A Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA. TCACTCAGAGGAAGAGGAGGG 0.572000 8 4 0 0 0.009096 0 0 OR5B17 219965 broad.mit.edu 37 11 58126218 58126218 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:58126218C>T uc010rke.2 - 0 325 c.325G>A c.(325-327)Gaa>Aaa p.E109K NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGGTAATTTTCCACAGTGGCA 0.473000 20 24 0 0 0.003330 0 0 ASZ1 136991 broad.mit.edu 37 7 117067579 117067579 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:117067579G>A uc003vjb.2 - 1 1 c.-62_splice c.e1-1 ASZ1_uc011kno.1_Splice_Site|ASZ1_uc011knp.1_Splice_Site NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) ATGCGCACCGGGGTGGGGCGT 0.731000 OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 9 0 0 0.004482 0 0 FOXO1 2308 broad.mit.edu 37 13 41134661 41134661 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:41134661T>C uc001uxl.4 - 1 1352 c.967A>G c.(967-969)Act>Gct p.T323A FOXO1_uc010acc.1_Missense_Mutation_p.T138A NM_002015 NP_002006 Q12778 FOXO1_HUMAN Homo sapiens forkhead box O1 (FOXO1), mRNA. 323 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) CCACTAATAGTACTAGCATTT 0.483000 55 68 0 0 0.014410 0 0 MS4A1 931 broad.mit.edu 37 11 60233401 60233401 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:60233401G>A uc009yna.3 + 4 671 c.344G>A c.(343-345)gGa>gAa p.G115E MS4A1_uc009ymz.3_Missense_Mutation_p.G115E|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.G115E|MS4A1_uc001npq.3_Missense_Mutation_p.G115E NM_152866 NP_690605 P11836 CD20_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA. 115 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CAGGTCAAAGGAAAAATGATA 0.338000 33 26 0 0 0.009535 0 0 FAM113B 91523 broad.mit.edu 37 12 47629761 47629761 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:47629761C>T uc001rpq.3 + 1 1440 c.915C>T c.(913-915)ttC>ttT p.F305F FAM113B_uc001rpn.3_Silent_p.F305F|FAM113B_uc021qxi.1_Silent_p.F305F NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 305 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) tgcttgggttcccaccccagc 0.672000 22 22 0 0 0.014323 0 0 ARMC4 55130 broad.mit.edu 37 10 28225794 28225794 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28225794C>T uc009xky.3 - 14 2211 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K ARMC4_uc010qds.2_Missense_Mutation_p.E230K|ARMC4_uc010qdt.2_Missense_Mutation_p.E397K|ARMC4_uc001itz.3_Missense_Mutation_p.E705K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 705 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCCCGGGTTTCCTTATCTTCA 0.488000 25 21 0 0 0.010504 0 0 BRWD3 254065 broad.mit.edu 37 X 79980524 79980524 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:79980524C>T uc004edt.3 - 14 1692 c.1429G>A c.(1429-1431)Gat>Aat p.D477N BRWD3_uc004edp.3_Missense_Mutation_p.D306N|BRWD3_uc004edq.3_Missense_Mutation_p.D73N|BRWD3_uc010nmj.2_Missense_Mutation_p.D73N|BRWD3_uc004edr.3_Missense_Mutation_p.D147N|BRWD3_uc004eds.3_Missense_Mutation_p.D73N|BRWD3_uc004edo.3_Missense_Mutation_p.D73N|BRWD3_uc004edu.3_Missense_Mutation_p.D147N|BRWD3_uc004edv.3_Missense_Mutation_p.D73N|BRWD3_uc004edw.3_Missense_Mutation_p.D73N|BRWD3_uc004edx.3_Missense_Mutation_p.D73N|BRWD3_uc004edy.3_Missense_Mutation_p.D73N|BRWD3_uc004edz.3_Missense_Mutation_p.D147N|BRWD3_uc004eea.3_Missense_Mutation_p.D147N|BRWD3_uc004eeb.3_Missense_Mutation_p.D73N NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 477 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ATCCTTTGATCAAATGGATGG 0.368000 28 20 0 0 0.010504 0 0 MC5R 4161 broad.mit.edu 37 18 13825911 13825911 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:13825911C>T uc010xaf.2 + 0 369 c.147C>T c.(145-147)atC>atT p.I49I NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 49 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 TGGGTGTCATCAGCCTCTTGG 0.512000 17 15 0 0 0.002450 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618034 156618034 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:156618034G>A uc003iov.3 + 3 551 c.15G>A c.(13-15)aaG>aaA p.K5K GUCY1A3_uc003iou.2_Silent_p.K5K|GUCY1A3_uc010iqc.2_Silent_p.K5K|GUCY1A3_uc010iqd.3_Silent_p.K5K|GUCY1A3_uc003iow.3_Silent_p.K5K|GUCY1A3_uc003iox.3_Silent_p.K5K|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.K5K|GUCY1A3_uc003ioz.3_Intron|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.K5K NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 5 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TCTGCACGAAGCTCAAGGATC 0.488000 18 14 0 0 0.004007 0 0 ITGAL 3683 broad.mit.edu 37 16 30515547 30515547 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:30515547C>T uc002dyi.4 + 17 2373 c.2197C>T c.(2197-2199)Ctt>Ttt p.L733F ITGAL_uc002dyj.4_Missense_Mutation_p.L650F|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 733 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GAATTTCTCTCTTTGGGAGGA 0.473000 49 25 0 0 0.009535 0 0 DNAH9 1770 broad.mit.edu 37 17 11671865 11671865 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:11671865C>T uc002gne.3 + 36 7334 c.7266C>T c.(7264-7266)atC>atT p.I2422I DNAH9_uc010coo.3_Silent_p.I1716I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2422 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACTATTACATCGACCCAGAGA 0.522000 39 26 0 0 0.007291 0 0 TTC31 64427 broad.mit.edu 37 2 74719542 74719542 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:74719542C>T uc002slt.2 + 10 1154 c.1131C>T c.(1129-1131)ttC>ttT p.F377F TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Silent_p.F231F NM_022492 NP_071937 Q49AM3 TTC31_HUMAN Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA. 377 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGGGCCTCTTCCGCCTGGGCA 0.617000 26 30 0 0 0.010818 0 0 BRCC3 79184 broad.mit.edu 37 X 154300608 154300608 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:154300608G>A uc004fna.3 + 1 238 c.130G>A c.(130-132)Gat>Aat p.D44N MTCP1NB_uc004fmy.3_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Missense_Mutation_p.D44N|BRCC3_uc011mzy.2_Missense_Mutation_p.D44N NM_024332 NP_077308 P46736 BRCC3_HUMAN Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA. 44 G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTAGTTGAACGATGATACAAG 0.328000 71 24 0 0 0.007291 0 0 PRSS54 221191 broad.mit.edu 37 16 58314339 58314339 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:58314339C>T uc002enf.3 - 6 1372 c.977G>A c.(976-978)gGa>gAa p.G326E PRSS54_uc002eng.3_Missense_Mutation_p.G326E|PRSS54_uc010vie.2_Missense_Mutation_p.G227E|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN Homo sapiens protease, serine, 54 (PRSS54), mRNA. 326 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAGCTGTTTCCTAGTCGTGA 0.448000 41 26 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179404389 179404389 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179404389C>T uc021vsy.1 - 300 90924 c.90699G>A c.(90697-90699)ggG>ggA p.G30233G MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G23928G|TTN_uc021vta.1_Silent_p.G23861G|TTN_uc021vtb.1_Silent_p.G23736G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31160 Fibronectin type-III 120. 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) ATTCCAGTGGCCCTTCTGGAC 0.502000 42 38 0 0 0.006999 0 0 PGAP3 93210 broad.mit.edu 37 17 37840880 37840880 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:37840880G>A uc002hsj.3 - 2 445 c.402C>T c.(400-402)ccC>ccT p.P134P PGAP3_uc010cvy.3_Non-coding_Transcript|PGAP3_uc010wej.2_Silent_p.P134P|PGAP3_uc002hsk.3_Intron|PGAP3_uc010cvz.3_Silent_p.P134P NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA. 134 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 TGTGGTACATGGGGGAGGAGG 0.587000 11 20 0 0 0.010504 0 0 C1orf63 57035 broad.mit.edu 37 1 25573264 25573264 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:25573264G>A uc001bjw.3 - 1 443 c.191C>T c.(190-192)tCc>tTc p.S64F C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript NM_020317 NP_064713 Q9BUV0 CA063_HUMAN Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA. 64 Arg-rich. breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCGGGAACGGGACCTGGACTT 0.657000 4 52 0 0 0.014410 0 0 SPEG 10290 broad.mit.edu 37 2 220354402 220354402 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:220354402C>T uc010fwg.3 + 35 8662 c.8662C>T c.(8662-8664)Cct>Tct p.P2888S NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2888 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCCTCCACTCCTCAAGGGGT 0.627000 80 78 0 0 0.014410 0 0 OR1L3 26735 broad.mit.edu 37 9 125437783 125437783 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:125437783C>T uc011lzb.2 + 0 375 c.375C>T c.(373-375)gcC>gcT p.A125A NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 GCTGTGTAGCCATTTGTAACC 0.443000 3 66 0 0 0.014410 0 0 APOL3 80833 broad.mit.edu 37 22 36537752 36537752 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:36537752G>A uc003aot.3 - 2 743 c.705C>T c.(703-705)atC>atT p.I235I APOL3_uc003aoq.3_Silent_p.I164I|APOL3_uc003aor.3_Silent_p.I164I|APOL3_uc003aos.3_Silent_p.I164I|APOL3_uc003aou.3_Silent_p.I35I|APOL3_uc003aov.3_Silent_p.I35I|APOL3_uc021wol.1_Silent_p.I35I NM_145640 NP_663617 O95236 APOL3_HUMAN Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. 235 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TGCTGGTGGTGATCCCAGTCA 0.547000 12 9 0 0 0.006214 0 0 FMNL1 752 broad.mit.edu 37 17 43314976 43314976 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:43314976C>T uc002iin.3 + 8 1064 c.864C>T c.(862-864)atC>atT p.I288I NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 288 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GACATGACATCATCCTTGCAG 0.557000 90 63 0 0 0.014410 0 0 CXCR2 3579 broad.mit.edu 37 2 219000367 219000367 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:219000367G>A uc002vgz.2 + 3 1053 c.843G>A c.(841-843)gtG>gtA p.V281V CXCR2_uc002vha.2_Silent_p.V281V|CXCR2_uc002vhb.2_Silent_p.V281V|CXCR2_uc021vwp.1_Silent_p.V281V NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 281 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 GGACCCAGGTGATCCAGGAGA 0.607000 43 29 0 0 0.009535 0 0 NBEAL2 23218 broad.mit.edu 37 3 47049159 47049159 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:47049159G>A uc003cqp.3 + 47 7658 c.7479G>A c.(7477-7479)aaG>aaA p.K2493K NBEAL2_uc010hjm.2_Silent_p.K1870K|NBEAL2_uc010hjn.2_Silent_p.K859K NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 2493 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCCGTGGCAAGCTGTTGAGCC 0.627000 7 7 0 0 0.001984 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166214 180166214 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:180166214G>A uc003mmf.1 - 0 845 c.845C>T c.(844-846)cCc>cTc p.P282L NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P282P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATTGAGAATGGGGGTAATTAT 0.428000 90 68 0 0 0.014410 0 0 SPEF2 79925 broad.mit.edu 37 5 35807313 35807313 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:35807313T>C uc003jjo.3 + 35 5448 c.5337T>C c.(5335-5337)ttT>ttC p.F1779F SPEF2_uc003jjp.1_Silent_p.F1265F|SPEF2_uc003jjr.3_Silent_p.F834F NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1779 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCATCCTTTTATTCAAGACC 0.393000 98 86 0 0 0.014410 0 0 GALR1 2587 broad.mit.edu 37 18 74968116 74968116 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:74968116C>T uc002lms.4 + 1 1166 c.669C>T c.(667-669)gtC>gtT p.V223V NM_001480 NP_001471 P47211 GALR1_HUMAN Homo sapiens galanin receptor 1 (GALR1), mRNA. 223 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TCTTTCAGGTCCTTAATCACT 0.343000 48 28 0 0 0.003755 0 0 ABCA8 10351 broad.mit.edu 37 17 66902293 66902293 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:66902293C>T uc002jhq.3 - 18 2630 c.2290G>A c.(2290-2292)Gat>Aat p.D764N ABCA8_uc002jhp.3_Missense_Mutation_p.D724N|ABCA8_uc010wqq.2_Missense_Mutation_p.D764N|ABCA8_uc010wqr.2_Missense_Mutation_p.D703N|ABCA8_uc002jhr.3_Missense_Mutation_p.D764N NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 724 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTATCAAGATCCTTGTAAAGT 0.313000 49 38 0 0 0.009718 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914416 147914416 + Missense_Mutation SNP G A A rs143879959 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:147914416G>A uc003weu.2 + 18 3563 c.3047G>A c.(3046-3048)cGa>cAa p.R1016Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 1016 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R1016Q(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATGTGGCTACGATATAACTTT 0.488000 HNSCC(39;0.1) 96 38 0 0 0.004289 0 0 LOR 4014 broad.mit.edu 37 1 153234258 153234258 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:153234258G>A uc021ozy.1 + 0 833 c.833G>A c.(832-834)gGa>gAa p.G278E LOR_uc001fbm.3_Missense_Mutation_p.G278E NM_000427 NP_000418 P23490 LORI_HUMAN Homo sapiens loricrin (LOR), mRNA. 278 keratinization|peptide cross-linking cornified envelope|cytoplasm|insoluble fraction|nucleoplasm protein binding, bridging|structural constituent of cytoskeleton lung(2) 2 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTTCCTCTGGAGGCGGCGGC 0.746000 2 30 0 0 0.007291 0 0 CILP2 148113 broad.mit.edu 37 19 19654542 19654542 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:19654542C>T uc002nmw.4 + 7 1291 c.1206C>T c.(1204-1206)ctC>ctT p.L402L CILP2_uc002nmv.4_Silent_p.L396L NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 396 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 TGATCAAGCTCCCTGAGGACT 0.667000 86 81 0 0 0.014410 0 0 DCLK3 85443 broad.mit.edu 37 3 36778957 36778957 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:36778957C>T uc003cgi.2 - 1 1685 c.1194G>A c.(1192-1194)atG>atA p.M398I NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 398 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CACTGTCCACCATGTCCTCCT 0.507000 26 18 0 0 0.006122 0 0 LRP1B 53353 broad.mit.edu 37 2 141299464 141299464 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:141299464C>T uc002tvj.1 - 43 8243 c.7271G>A c.(7270-7272)gGa>gAa p.G2424E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2424 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGCTCTTCTTCCCCAGTCCGA 0.408000 TSP Lung(27;0.18) 31 23 0 0 0.014323 0 0 FAM169B 283777 broad.mit.edu 37 15 98995172 98995172 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:98995172C>T uc002buk.1 - 4 502 c.252G>A c.(250-252)agG>agA p.R84R NM_182562 NP_872368 Q8N8A8 F169B_HUMAN Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA. 84 large_intestine(3)|lung(3)|urinary_tract(1) 7 AGTGTTTCCTCCTGATGAACA 0.577000 16 13 0 0 0.004007 0 0 ANKS1B 56899 broad.mit.edu 37 12 99898347 99898347 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:99898347C>T uc001tge.2 - 9 1762 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K ANKS1B_uc001tgf.2_Missense_Mutation_p.E29K|ANKS1B_uc009ztt.1_Missense_Mutation_p.E415K NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 449 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTCTCATTTTCTGAAGGAAAT 0.378000 8 14 0 0 0.001855 0 0 CETN2 1069 broad.mit.edu 37 X 151997145 151997145 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:151997145G>A uc004fgq.3 - 3 412 c.365C>T c.(364-366)tCg>tTg p.S122L NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank NM_004344 NP_004335 P41208 CETN2_HUMAN Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA. 122 EF-hand 3. G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis XPC complex|centriole|cytosol ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) ATTTTTGAACGAAATCTTCCC 0.398000 Direct reversal of damage;Nucleotide excision repair (NER) 51 81 0 0 0.014410 0 0 MYOM1 8736 broad.mit.edu 37 18 3129437 3129437 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:3129437C>T uc002klp.3 - 17 2921 c.2587G>A c.(2587-2589)Gaa>Aaa p.E863K MYOM1_uc002klq.3_Intron NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 863 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GGGGAGGCTTCATGCACGCGC 0.557000 OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 67 0 0 0.014410 0 0 C2orf70 339778 broad.mit.edu 37 2 26802166 26802166 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:26802166C>T uc010eyn.3 + 3 466 c.466C>T c.(466-468)Cct>Tct p.P156S NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA. 156 breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 CCCTAGGCCTCCTCTGTGCCC 0.582000 33 17 0 0 0.007413 0 0 NOC2L 26155 broad.mit.edu 37 1 892513 892513 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:892513T>G uc009vjq.3 - 2 379 c.320A>C c.(319-321)gAg>gCg p.E107A NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Missense_Mutation_p.E107A NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA. 107 Poly-Glu. nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GAACGGCCCCTCTTCCTCCTC 0.582000 63 43 0 0 0.011902 0 0 LEFTY1 10637 broad.mit.edu 37 1 226076643 226076643 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:226076643T>G uc001hpo.3 - 0 204 c.124A>C c.(124-126)Acc>Ccc p.T42P PYCR2_uc010pvj.2_Intron|LEFTY1_uc009xej.2_Missense_Mutation_p.T42P NM_020997 NP_066277 O75610 LFTY1_HUMAN Homo sapiens left-right determination factor 1 (LEFTY1), mRNA. 42 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CTGTCCAGGGTGGGCACCTCT 0.731000 1 17 0 0 0.014323 0 0 DHX15 1665 broad.mit.edu 37 4 24543617 24543617 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:24543617G>A uc003gqx.3 - 7 1532 c.1364C>T c.(1363-1365)tCc>tTc p.S455F DHX15_uc003gqw.3_5'Flank NM_001358 NP_001349 O43143 DHX15_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA. 455 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CACCAAAAGGGACTCAACTCT 0.418000 22 26 0 0 0.007291 0 0 POTEG 404785 broad.mit.edu 37 14 19573109 19573109 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:19573109C>T uc001vuz.1 + 7 1259 c.1207C>T c.(1207-1209)Caa>Taa p.Q403* POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 403 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GGAAATGTCTCAAGAACCAGA 0.294000 126 15 0 0 0.002780 0 0 ASGR1 432 broad.mit.edu 37 17 7080604 7080604 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:7080604C>T uc002ges.4 - 2 512 c.112G>A c.(112-114)Gga>Aga p.G38R ASGR1_uc021toy.1_Intron|ASGR1_uc010clx.1_5'Flank NM_001671 NP_001662 P07306 ASGR1_HUMAN Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA. 38 receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding p.S37S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 10 AGGCGAGGTCCGGAGCAGAGA 0.682000 OREG0024128 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 31 0 0 0.012213 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435229 18435229 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:18435229G>A uc001rdt.3 + 1 330 c.214G>A c.(214-216)Gac>Aac p.D72N PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.D72N|PIK3C2G_uc010sic.2_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 72 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ACCAAAATGGGACTCAACAGG 0.413000 59 48 0 0 0.014410 0 0 SLC17A8 246213 broad.mit.edu 37 12 100751249 100751249 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:100751249A>T uc010svi.2 + 0 393 c.80A>T c.(79-81)gAt>gTt p.D27V SLC17A8_uc009ztx.3_Missense_Mutation_p.D27V NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 27 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GCCGTGGGAGATTCTTTGGGA 0.403000 47 29 0 0 0.008361 0 0 SI 6476 broad.mit.edu 37 3 164780273 164780273 + Splice_Site SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:164780273T>C uc003fei.3 - 9 971 c.908_splice c.e9-1 p.E303_splice NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 303 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAAAATCTCTGCAAAATAAA 0.289000 HNSCC(35;0.089) 27 14 0 0 0.003163 0 0 SATB1 6304 broad.mit.edu 37 3 18427891 18427891 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:18427891C>T uc003cbh.3 - 8 3154 c.1419_splice c.e8+1 p.Q473_splice SATB1_uc003cbi.3_Splice_Site_p.Q473_splice|SATB1_uc003cbj.3_Splice_Site_p.Q473_splice NM_002971 NP_002962 Q01826 SATB1_HUMAN Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA. 473 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter PML body|nuclear matrix double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GAGACCGCACCTGGGGAGGAC 0.478000 64 43 0 0 0.014410 0 0 MAP3K15 389840 broad.mit.edu 37 X 19482481 19482481 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:19482481G>A uc022btq.1 - 3 569 c.569C>T c.(568-570)cCg>cTg p.P190L MAP3K15_uc004czk.2_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 190 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) ATCAGCGCACGGTGTCACGAT 0.483000 12 15 0 0 0.003163 0 0 AAMP 14 broad.mit.edu 37 2 219130319 219130319 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:219130319G>A uc002vhl.3 - 7 1053 c.969C>T c.(967-969)tcC>tcT p.S323S AAMP_uc002vhk.3_Silent_p.S322S NM_001087 NP_001078 Q13685 AAMP_HUMAN Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA. 322 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAAGCCCAAGGACTCCACCG 0.637000 25 15 0 0 0.003163 0 0 FSIP2 401024 broad.mit.edu 37 2 186678426 186678426 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:186678426G>A uc002upl.3 + 17 20249 c.20249G>A c.(20248-20250)cGa>cAa p.R6750Q FSIP2_uc002upm.3_Non-coding_Transcript NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAAGAGGAACGAGATTCTGAT 0.313000 14 7 0 0 0.004482 0 0 ARL15 54622 broad.mit.edu 37 5 53467730 53467730 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:53467730G>A uc003jpg.1 - 1 171 c.77C>T c.(76-78)cCa>cTa p.P26L ARL15_uc010ivs.1_Intron NM_019087 NP_061960 Q9NXU5 ARL15_HUMAN Homo sapiens ADP-ribosylation factor-like 15 (ARL15), mRNA. 26 GTP binding p.C25S(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 Lung NSC(810;0.000779) TGCAGGTGGTGGTCCCTTGCA 0.433000 22 13 0 0 0.002450 0 0 SSH3 54961 broad.mit.edu 37 11 67079175 67079175 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:67079175C>T uc001okj.3 + 13 1975 c.1797C>T c.(1795-1797)tcC>tcT p.S599S SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.S453S NM_017857 NP_060327 Q8TE77 SSH3_HUMAN Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA. 599 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCCTGAAGTCCCGCCAGTCAG 0.667000 16 27 0 0 0.006320 0 0 TMEM217 221468 broad.mit.edu 37 6 37186253 37186253 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:37186253G>A uc003onl.3 - 1 635 c.554C>T c.(553-555)tCg>tTg p.S185L TMEM217_uc010jwr.3_Missense_Mutation_p.S185L|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.S185L NM_145316 NP_660359 Q8N7C4 TM217_HUMAN Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA. 185 integral to membrane p.S185L(2) endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 gaacccACTCGAAATTGATAA 0.478000 51 26 0 0 0.005443 0 0 RET 5979 broad.mit.edu 37 10 43615600 43615600 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:43615600C>T uc001jal.3 + 14 2869 c.2679C>T c.(2677-2679)ttC>ttT p.F893F RET_uc001jak.1_Silent_p.F893F|RET_uc010qez.1_Silent_p.F639F NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 893 Protein kinase. F -> L (in HSCR1; sporadic form). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TTTCGGATTTCGGCTTGTCCC 0.567000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 15 10 0 0 0.013537 0 0 ZNF43 7594 broad.mit.edu 37 19 21990847 21990847 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:21990847G>A uc002nqj.3 - 3 2122 c.1992C>T c.(1990-1992)acC>acT p.T664T ZNF43_uc002nql.3_Silent_p.T658T|ZNF43_uc002nqm.3_Silent_p.T658T|ZNF43_uc010ecv.3_Silent_p.T658T|ZNF43_uc002nqk.3_Silent_p.T594T NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T664N(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GTTTAGTAAGGGTTGAGGACC 0.368000 44 29 0 0 0.013726 0 0 SALL1 6299 broad.mit.edu 37 16 51171368 51171368 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:51171368G>A uc021tif.1 - 2 3661 c.3339C>T c.(3337-3339)ccC>ccT p.P1113P SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.P62P NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1210 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGAACTTGACGGGATTGCCTC 0.557000 28 28 0 0 0.009535 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 38820 38820 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrGL000218.1:38820T>C uc011mfn.2 - 4 732 c.643A>G c.(643-645)Aat>Gat p.N215D LOC100233156_uc003jah.2_3'UTR Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. TTTGGGGGATTGGGGGGAAGC 0.582000 9 3 0 0 0.009096 0 0 TP63 8626 broad.mit.edu 37 3 189586378 189586378 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:189586378C>T uc003fry.2 + 7 1091 c.1002C>T c.(1000-1002)gtC>gtT p.V334V TP63_uc003frx.2_Silent_p.V334V|TP63_uc003frz.2_Silent_p.V334V|TP63_uc010hzc.1_Silent_p.V334V|TP63_uc003fsa.2_Silent_p.V240V|TP63_uc003fsb.2_Silent_p.V240V|TP63_uc003fsc.2_Silent_p.V240V|TP63_uc003fsd.2_Silent_p.V240V|TP63_uc021xir.1_Silent_p.V240V|TP63_uc010hzd.1_Silent_p.V155V|TP63_uc003fse.1_Silent_p.V215V NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 334 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTGGGCAAGTCCTGGGCCGAC 0.488000 HNSCC(45;0.13) 25 15 0 0 0.003163 0 0 DNAH17 8632 broad.mit.edu 37 17 76475680 76475680 + Missense_Mutation SNP C T T rs61744345 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:76475680C>T uc010dhp.2 - 49 7912 c.7787G>A c.(7786-7788)gGc>gAc p.G2596D 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) GGCCTCCTGGCCGGGGAAGCT 0.607000 46 34 0 0 0.004289 0 0 TPTE 7179 broad.mit.edu 37 21 10908892 10908892 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:10908892G>A uc002yip.1 - 22 1821 c.1453C>T c.(1453-1455)Ctt>Ttt p.L485F TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L467F|TPTE_uc002yir.1_Missense_Mutation_p.L447F|TPTE_uc010gkv.1_Missense_Mutation_p.L347F NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 485 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L467I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATGTAGGAAGATTCTAAAAA 0.269000 61 6 0 0 0.003080 0 0 OR52M1 119772 broad.mit.edu 37 11 4566853 4566853 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4566853C>T uc010qyf.2 + 0 433 c.433C>T c.(433-435)Cgt>Tgt p.R145C NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R145G(2)|p.R145H(1) endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTGGTGGGTCGTTTGGGGCT 0.522000 31 19 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38791386 38791386 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:38791386C>T uc021yzh.1 + 27 3878 c.3769C>T c.(3769-3771)Cta>Tta p.L1257L DNAH8_uc003ooe.2_Silent_p.L1040L NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATCAGAAATTCTACACTATGC 0.299000 69 27 0 0 0.007291 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471868 61471868 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:61471868G>A uc002ljl.3 + 7 1238 c.1142G>A c.(1141-1143)tGa>tAa p.*381* SERPINB7_uc002ljm.3_Silent_p.*381*|SERPINB7_uc010xet.2_Silent_p.*364*|SERPINB7_uc010dqg.3_Silent_p.*381* NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 0 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) TCTTGCCCTTGAAAATCCAAT 0.403000 27 25 0 0 0.005443 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389491 150389491 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:150389491G>A uc003who.3 + 2 205 c.117G>A c.(115-117)ggG>ggA p.G39G NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 39 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGCTGCAGGGAACAGCATCC 0.512000 18 26 0 0 0.005443 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160804493 160804493 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:160804493G>A uc003fdv.3 - 4 469 c.50C>T c.(49-51)tCc>tTc p.S17F B3GALNT1_uc003fdw.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fea.3_Missense_Mutation_p.S17F|B3GALNT1_uc011bpa.2_Missense_Mutation_p.S17F|B3GALNT1_uc021xgw.1_Missense_Mutation_p.S17F NM_033169 NP_149359 O75752 B3GL1_HUMAN Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA. 17 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) CCATTTGAGGGATCTCAGTGA 0.527000 16 15 0 0 0.002450 0 0 HMCN1 83872 broad.mit.edu 37 1 186062788 186062788 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:186062788G>A uc001grq.1 + 65 10412 c.10183G>A c.(10183-10185)Gga>Aga p.G3395R MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3395 Ig-like C2-type 32. 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 ACTGGCAGCAGGACAAGTTAT 0.433000 126 37 0 0 0.009718 0 0 MARK3 4140 broad.mit.edu 37 14 103918266 103918266 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:103918266G>A uc001ymz.4 + 4 1024 c.358G>A c.(358-360)Gaa>Aaa p.E120K MARK3_uc001ymx.4_Missense_Mutation_p.E120K|MARK3_uc001ymw.4_Missense_Mutation_p.E120K|MARK3_uc001yna.4_Missense_Mutation_p.E120K|MARK3_uc001ymy.4_Missense_Mutation_p.E120K|MARK3_uc010awp.3_Missense_Mutation_p.E120K NM_001128918 NP_001122390 P27448 MARK3_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA. 120 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.E120K(7) 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) GAAGTTATTCGAAGTCATTGA 0.353000 101 78 0 0 0.014410 0 0 CACNA1S 779 broad.mit.edu 37 1 201060870 201060870 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:201060870G>A uc001gvv.3 - 4 819 c.592C>T c.(592-594)Cac>Tac p.H198Y NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 198 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGGCGATGTGAAAGAGGGGG 0.552000 1 62 0 0 0.014410 0 0 CORIN 10699 broad.mit.edu 37 4 47765593 47765593 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:47765593C>T uc003gxm.3 - 3 513 c.420G>A c.(418-420)atG>atA p.M140I CORIN_uc011bzf.2_Missense_Mutation_p.M1I|CORIN_uc011bzg.2_Missense_Mutation_p.M73I|CORIN_uc011bzh.1_Missense_Mutation_p.M140I|CORIN_uc011bzi.1_Missense_Mutation_p.M140I|CORIN_uc003gxn.4_Missense_Mutation_p.M140I NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 140 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GGGTGATGTTCATACAGGCAC 0.418000 47 54 0 0 0.014410 0 0 RSPO2 340419 broad.mit.edu 37 8 108970382 108970382 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:108970382A>C uc003yms.3 - 4 1200 c.542T>G c.(541-543)gTg>gGg p.V181G RSPO2_uc003ymq.3_Missense_Mutation_p.V114G|RSPO2_uc003ymr.3_Missense_Mutation_p.V117G NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN Homo sapiens R-spondin 2 (RSPO2), mRNA. 181 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TGTGTCTTTCACTGGCTTTTT 0.438000 66 43 0 0 0.014410 0 0 RRAD 6236 broad.mit.edu 37 16 66956003 66956004 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:66956003_66956004GG>AA uc002eqn.2 - 4 1054_1055 c.902_903CC>TT c.(901-903)tcc>tTT p.S301F RRAD_uc002eqo.2_Missense_Mutation_p.S301F NM_001128850 NP_004156 P55042 RAD_HUMAN Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA. 301 small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|calmodulin binding endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GGTCGTGGCAGGACTTGGATTT 0.634000 10 9 0 0 0.004672 0 0 ANGPT4 51378 broad.mit.edu 37 20 861886 861886 + Silent SNP C T T rs148851474 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:861886C>T uc002wei.3 - 4 982 c.879G>A c.(877-879)gaG>gaA p.E293E ANGPT4_uc010zpn.2_Silent_p.E287E NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 293 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 AGCGCTGGATCTCTGCACAGT 0.572000 27 15 0 0 0.004990 0 0 OR10K2 391107 broad.mit.edu 37 1 158390140 158390140 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:158390140G>A uc010pii.2 - 0 517 c.517C>T c.(517-519)Caa>Taa p.Q173* NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TGATGTAGTTGATTGGAGGAA 0.463000 4 96 0 0 0.014410 0 0 BMS1 9790 broad.mit.edu 37 10 43312841 43312841 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:43312841G>A uc001jaj.3 + 14 2837 c.2479G>A c.(2479-2481)Gat>Aat p.D827N NM_014753 NP_055568 Q14692 BMS1_HUMAN Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA. 827 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAAGCATTTGGATAAGAAGAG 0.328000 23 11 0 0 0.001855 0 0 FAM135B 51059 broad.mit.edu 37 8 139153455 139153455 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:139153455G>A uc003yuy.3 - 16 3947 c.3776C>T c.(3775-3777)aCc>aTc p.T1259I FAM135B_uc003yux.3_Missense_Mutation_p.T1160I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1259 p.T1259T(1) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACTAACCAGGGTGCTGTTGTT 0.542000 HNSCC(54;0.14) 19 17 0 0 0.007413 0 0 NLRP3 114548 broad.mit.edu 37 1 247582364 247582364 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247582364G>A uc001icr.3 + 2 406 c.268G>A c.(268-270)Gat>Aat p.D90N NLRP3_uc001ics.3_Missense_Mutation_p.D90N|NLRP3_uc001icu.3_Missense_Mutation_p.D90N|NLRP3_uc001icw.3_Missense_Mutation_p.D90N|NLRP3_uc001icv.3_Missense_Mutation_p.D90N|NLRP3_uc010pyw.2_Missense_Mutation_p.D88N|NLRP3_uc001ict.1_Missense_Mutation_p.D88N NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 90 DAPIN. 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) AGCAAAAAGAGATGAGCCGAA 0.423000 2 50 0 0 0.014410 0 0 LRIG2 9860 broad.mit.edu 37 1 113662058 113662058 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:113662058C>T uc001edf.1 + 16 3082 c.2884C>T c.(2884-2886)Ccg>Tcg p.P962S LRIG2_uc009wgn.1_Missense_Mutation_p.P859S NM_014813 NP_055628 O94898 LRIG2_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA. 962 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GAGCCTGATACCGTCAGCCAA 0.493000 45 33 0 0 0.013726 0 0 ALOX12 239 broad.mit.edu 37 17 6902131 6902131 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:6902131G>A uc002gdx.4 + 3 570 c.517G>A c.(517-519)Gac>Aac p.D173N LOC100506713_uc021tou.1_Intron NM_000697 NP_000688 P18054 LOX12_HUMAN Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA. 173 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 GAAGAGGCTGGACTTTGAATG 0.522000 25 12 0 0 0.003163 0 0 MEPE 56955 broad.mit.edu 37 4 88766655 88766655 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:88766655G>A uc021xpx.1 + 3 740 c.728G>A c.(727-729)aGc>aAc p.S243N MEPE_uc021xpu.1_Missense_Mutation_p.S212N|MEPE_uc021xpv.1_Missense_Mutation_p.S99N|MEPE_uc021xpw.1_Missense_Mutation_p.S99N|MEPE_uc010ikn.3_Missense_Mutation_p.S99N|MEPE_uc003hqy.3_Missense_Mutation_p.S212N|MEPE_uc021xpy.1_Missense_Mutation_p.S99N NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 212 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AAAAGCAAAAGCACCCATCGT 0.383000 31 24 0 0 0.002780 0 0 IBSP 3381 broad.mit.edu 37 4 88732550 88732550 + Missense_Mutation SNP G A A rs144185482 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:88732550G>A uc003hqx.4 + 6 540 c.442G>A c.(442-444)Gaa>Aaa p.E148K NM_004967 NP_004958 P21815 SIAL_HUMAN Homo sapiens integrin-binding sialoprotein (IBSP), mRNA. 148 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) AAAAGAGAAGGAAAGTGATga 0.398000 15 12 0 0 0.013537 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035405 110035405 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:110035405C>T uc010rwc.2 + 5 1598 c.1598C>T c.(1597-1599)cCc>cTc p.P533L ZC3H12C_uc009yxw.3_Missense_Mutation_p.P532L|ZC3H12C_uc010rwd.2_Missense_Mutation_p.P533L|ZC3H12C_uc001pkr.4_Missense_Mutation_p.P501L NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA. 532 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) ACTGCAAAACCCCAAAGCACT 0.443000 4 35 0 0 0.003271 0 0 KLK6 5653 broad.mit.edu 37 19 51465129 51465129 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:51465129G>A uc002puh.3 - 3 545 c.480C>T c.(478-480)ttC>ttT p.F160F KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.F151F|KLK6_uc002puj.3_Silent_p.F44F|KLK6_uc010ycn.2_Silent_p.F44F|KLK6_uc002pul.3_Silent_p.F151F|KLK6_uc002pum.3_Silent_p.F44F NM_001012965 NP_001012983 Q92876 KLK6_HUMAN Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA. 151 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TGGTGTCAGGGAAATCACCTG 0.587000 21 24 0 0 0.003954 0 0 RANBP9 10048 broad.mit.edu 37 6 13697093 13697093 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:13697093G>A uc003nbb.3 - 1 666 c.607C>T c.(607-609)Cga>Tga p.R203* RANBP9_uc003nba.3_5'UTR NM_005493 NP_005484 Q96S59 RANB9_HUMAN Homo sapiens RAN binding protein 9 (RANBP9), mRNA. 203 B30.2/SPRY. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TGCGTGGCTCGAACTGACGCG 0.393000 130 41 0 0 0.014410 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138670 126138670 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:126138670C>T uc001uhe.1 + 8 2659 c.2651C>T c.(2650-2652)cCt>cTt p.P884L TMEM132B_uc001uhf.1_Missense_Mutation_p.P396L NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 884 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCCAATAATCCTAGTGACCTC 0.507000 34 27 0 0 0.006320 0 0 EVI5L 115704 broad.mit.edu 37 19 7911465 7911465 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:7911465C>T uc010xjz.2 + 0 84 c.37C>T c.(37-39)Cag>Tag p.Q13* EVI5L_uc002min.3_Nonsense_Mutation_p.Q13* NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 13 intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 CTCCTCATCCCAGGAGGCCCT 0.652000 17 21 0 0 0.002780 0 0 ZNF682 91120 broad.mit.edu 37 19 20117432 20117432 + Silent SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:20117432C>A uc002noq.3 - 3 1002 c.879G>T c.(877-879)gcG>gcT p.A293A ZNF682_uc002noo.3_Silent_p.A261A|ZNF682_uc002nop.3_Silent_p.A261A|ZNF682_uc010eck.3_Silent_p.A217A NM_033196 NP_001070817 O95780 ZN682_HUMAN Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA. 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 GCCGGTTAAACGCTCTGCCAC 0.408000 48 32 1.66425e-11 2.2495e-11 0.004878 1 0 ZNF768 79724 broad.mit.edu 37 16 30536828 30536829 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:30536828_30536829GG>AA uc002dyk.4 - 1 808_809 c.632_633CC>TT c.(631-633)ccc>cTT p.P211L ZNF768_uc010vex.2_Missense_Mutation_p.P180L|ZNF768_uc010vew.2_Missense_Mutation_p.P180L NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN Homo sapiens zinc finger protein 768 (ZNF768), mRNA. 211 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GTGGCCCTATGGGCAGGTCCCC 0.584000 50 29 0 0 0.004672 0 0 SLC17A3 10786 broad.mit.edu 37 6 25849679 25849679 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:25849679G>A uc003nfk.4 - 10 1395 c.1285C>T c.(1285-1287)Ctc>Ttc p.L429F SLC17A3_uc003nfi.4_Missense_Mutation_p.L351F NM_001098486 NP_001091956 O00476 NPT4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA. 351 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 GCTCCCATGAGAAAACTGGAA 0.428000 27 18 0 0 0.002780 0 0 FNBP1L 54874 broad.mit.edu 37 1 93996314 93996314 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:93996314C>T uc010otk.2 + 6 664 c.513C>T c.(511-513)gcC>gcT p.A171A FNBP1L_uc001dpv.3_Silent_p.A171A|FNBP1L_uc001dpw.3_Silent_p.A171A NM_001164473 NP_001157945 Q5T0N5 FBP1L_HUMAN Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA. 171 Induction of membrane tubulation (By similarity). endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) GCCCCTAGGCCAAACAGCAGT 0.313000 1 9 0 0 0.013537 0 0 FAM47B 170062 broad.mit.edu 37 X 34961803 34961803 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:34961803G>A uc004ddi.2 + 0 891 c.855G>A c.(853-855)ccG>ccA p.P285P NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 285 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATCTCTGCCCGGAGCCTCCCG 0.622000 35 32 0 0 0.013726 0 0 LAMC3 10319 broad.mit.edu 37 9 133907434 133907434 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:133907434G>A uc004caa.1 + 2 779 c.681G>A c.(679-681)gaG>gaA p.E227E NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 227 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGCCCCAGGAGTGGGTCACCA 0.577000 6 49 0 0 0.014410 0 0 CENPC1 1060 broad.mit.edu 37 4 68379911 68379911 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:68379911T>A uc003hdd.1 - 7 1508 c.1325A>T c.(1324-1326)gAa>gTa p.E442V CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.E442V NM_001812 NP_001803 Q03188 CENPC_HUMAN Homo sapiens centromere protein C 1 (CENPC1), mRNA. 442 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 23 ATGTATGTTTTCATCTTTAGA 0.348000 16 18 0 0 0.007413 0 0 DQ656008 0 broad.mit.edu 37 11 5142614 5142614 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5142614G>A uc001maa.3 - 3 c.785C>T Homo sapiens clone Affy08256A04, mRNA sequence. TGGCCAGGAAGATATACATGG 0.418000 28 23 0 0 0.003330 0 0 OR7C2 26658 broad.mit.edu 37 19 15052942 15052942 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:15052942C>T uc010xoc.2 + 0 642 c.642C>T c.(640-642)atC>atT p.I214I NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) TCTGTGGAATCCTATTCTCTT 0.473000 41 29 0 0 0.006320 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572553 140572553 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140572553C>T uc003lix.3 + 0 602 c.428C>T c.(427-429)tCa>tTa p.S143L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 143 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAAAAATATCAGAAAATACA 0.433000 49 29 0 0 0.009535 0 0 FGD5 152273 broad.mit.edu 37 3 14939498 14939498 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:14939498G>A uc003bzc.3 + 5 3072 c.2962G>A c.(2962-2964)Gat>Aat p.D988N FGD5_uc011avk.2_Missense_Mutation_p.D988N|FGD5_uc003bzd.3_Missense_Mutation_p.D66N NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 988 DH. 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 p.D747H(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GCAGGGGTTTGATCACCACGC 0.587000 27 27 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9069395 9069395 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9069395C>T uc002mkp.3 - 2 18255 c.18051G>A c.(18049-18051)ggG>ggA p.G6017G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6019 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 AATTGGTGGTCCCCATATTGG 0.458000 132 81 0 0 0.014410 0 0 COL6A6 131873 broad.mit.edu 37 3 130282324 130282324 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:130282324G>A uc010htl.3 + 1 508 c.477G>A c.(475-477)gtG>gtA p.V159V NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 159 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAGACGGAGTGAAAATCATCT 0.493000 33 17 0 0 0.006122 0 0 F8 2157 broad.mit.edu 37 X 154157927 154157927 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:154157927C>T uc004fmt.3 - 13 4309 c.4138G>A c.(4138-4140)Gag>Aag p.E1380K NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1380 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GCCCCTTTCTCCTTCTCATTG 0.443000 163 65 0 0 0.014410 0 0 ARMC4 55130 broad.mit.edu 37 10 28283985 28283985 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28283985C>T uc009xky.3 - 1 185 c.87G>A c.(85-87)gcG>gcA p.A29A ARMC4_uc001itz.3_Silent_p.A29A NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 29 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CTTTCAATATCGCTTCATTTA 0.433000 29 15 0 0 0.006122 0 0 ULK1 8408 broad.mit.edu 37 12 132394824 132394824 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:132394824C>T uc001uje.3 + 10 1102 c.834C>T c.(832-834)ctC>ctT p.L278L NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 278 Protein kinase. autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) ACCCTTTCCTCGATGCCAGCC 0.632000 65 67 0 0 0.014410 0 0 ARID5B 84159 broad.mit.edu 37 10 63852113 63852113 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:63852113G>T uc001jlt.2 + 9 3347 c.2891G>T c.(2890-2892)gGc>gTc p.G964V ARID5B_uc001jlu.2_Missense_Mutation_p.G721V NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 964 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ACCATGTCAGGCCCTAAAAAA 0.522000 41 52 1.32667e-27 1.80489e-27 0.014410 1 0 CDX2 1045 broad.mit.edu 37 13 28539094 28539094 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:28539094C>T uc001urv.3 - 1 774 c.600G>A c.(598-600)gaG>gaA p.E200E NM_001265 NP_001256 Q99626 CDX2_HUMAN Homo sapiens caudal type homeobox 2 (CDX2), mRNA. 200 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) CCTTCTCCAGCTCCAGCCGCT 0.582000 T ETV6 AML 14 6 0 0 0.001984 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190932 39190932 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:39190932G>A uc002hvv.3 - 0 176 c.142C>T c.(142-144)Cct>Tct p.P48S NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA. 58 Missing (in allele KAP1.1). extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GAGAAGCTAGGAAATCCGCAG 0.622000 37 34 0 0 0.003271 0 0 POTEH 23784 broad.mit.edu 37 22 16287490 16287490 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:16287490C>T uc010gqp.2 - 0 448 c.396G>A c.(394-396)agG>agA p.R132R POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 132 p.R132K(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CCATCTTGCTCCTGAGTGTCT 0.612000 249 62 0 0 0.014410 0 0 COL18A1 80781 broad.mit.edu 37 21 46927503 46927503 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:46927503G>A uc002zhi.3 + 36 3806 c.3785G>A c.(3784-3786)gGg>gAg p.G1262E COL18A1_uc002zhg.3_Missense_Mutation_p.G1082E|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.G60E|COL18A1_uc002zhk.3_5'UTR NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 1497 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTCCCACGAGGGACGGTAAGG 0.617000 6 5 0 0 0.001168 0 0 CSMD1 64478 broad.mit.edu 37 8 3141826 3141826 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:3141826G>A uc022aqr.1 - 25 4383 c.3993C>T c.(3991-3993)atC>atT p.I1331I CSMD1_uc011kwj.2_Silent_p.I724I|CSMD1_uc003wqe.3_Silent_p.I488I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1332 CUB 8. 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) AGACCTTGAGGATGTCGTGAG 0.567000 OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 19 0 0 0.002780 0 0 PRPF40B 25766 broad.mit.edu 37 12 50031265 50031265 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:50031265G>A uc001rur.1 + 15 1570 c.1507G>A c.(1507-1509)Gag>Aag p.E503K PRPF40B_uc001rup.1_Missense_Mutation_p.E525K|PRPF40B_uc001ruq.1_Missense_Mutation_p.E497K|PRPF40B_uc001rus.1_Missense_Mutation_p.E446K NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 503 FF 2. RNA splicing|mRNA processing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CTTCCTGGACGAGCTGCATGA 0.582000 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 19 0 0 0.008871 0 0 UMOD 7369 broad.mit.edu 37 16 20360449 20360449 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:20360449G>A uc002dhb.3 - 3 402 c.273C>T c.(271-273)ggC>ggT p.G91G UMOD_uc002dgz.3_Silent_p.G58G|UMOD_uc002dha.3_Silent_p.G58G NM_003361 NP_003352 P07911 UROM_HUMAN Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA. 58 EGF-like 2; calcium-binding (Potential). cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TCAGGCCATCGCCGGTGAAGC 0.597000 10 8 0 0 0.004482 0 0 BSPRY 54836 broad.mit.edu 37 9 116132362 116132363 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:116132362_116132363CC>TT uc004bhg.4 + 5 1197_1198 c.1149_1150CC>TT c.(1147-1152)ttcccg>ttTTcg p.P384S BSPRY_uc010muw.3_3'UTR NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA. 384 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding p.P384P(1) breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 ATGTGTCCTTCCCGGGGCCCCT 0.619000 3 30 0 0 0.004672 0 0 CLK2 1196 broad.mit.edu 37 1 155239408 155239408 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:155239408G>A uc001fjy.3 - 2 560 c.270C>T c.(268-270)taC>taT p.Y90Y CLK2_uc001fjw.3_Silent_p.Y90Y|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Silent_p.Y90Y NM_003993 NP_003984 P49760 CLK2_HUMAN Homo sapiens CDC-like kinase 2 (CLK2), mRNA. 90 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) 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) CTGTGTCATAGTAGGCATCTC 0.572000 Other conserved DNA damage response genes 9 261 0 0 0.014410 0 0 COL28A1 340267 broad.mit.edu 37 7 7571074 7571074 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:7571074C>T uc003src.1 - 2 703 c.586G>A c.(586-588)Gaa>Aaa p.E196K COL28A1_uc011jxe.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 196 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGTTTGGCTTCATTGACTACC 0.398000 23 40 0 0 0.006230 0 0 DAB2 1601 broad.mit.edu 37 5 39377290 39377290 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:39377290C>T uc003jlx.3 - 11 2130 c.1599G>A c.(1597-1599)atG>atA p.M533I DAB2_uc003jlw.3_Missense_Mutation_p.M512I NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 533 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GTTGACCACCCATCATGGCTC 0.527000 32 39 0 0 0.007835 0 0 MUC2 4583 broad.mit.edu 37 11 1087502 1087502 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:1087502G>A uc001lsx.1 + 23 3280 c.3253G>A c.(3253-3255)Ggt>Agt p.G1085S NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 1085 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) CTGTGACACGGGTGGGGACTG 0.662000 16 16 0 0 0.004990 0 0 DNAH5 1767 broad.mit.edu 37 5 13841099 13841099 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:13841099C>T uc003jfd.2 - 33 5667 c.5625G>A c.(5623-5625)acG>acA p.T1875T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1875 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAGATCCCTCGTGGTGACGT 0.393000 Kartagener syndrome 42 26 0 0 0.006320 0 0 CEL 1056 broad.mit.edu 37 9 135942235 135942235 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:135942235C>T uc010naa.1 + 5 705 c.689C>T c.(688-690)cCc>cTc p.P230L NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 227 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) ACCCTCTCCCCCTACAACAAG 0.637000 5 29 0 0 0.009535 0 0 DDX4 54514 broad.mit.edu 37 5 55109503 55109503 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:55109503G>A uc003jqg.4 + 18 1717 c.1618G>A c.(1618-1620)Gat>Aat p.D540N DDX4_uc010ivz.3_Missense_Mutation_p.D520N|DDX4_uc003jqh.4_Missense_Mutation_p.D506N|DDX4_uc003jqj.3_Missense_Mutation_p.D391N NM_024415 NP_077726 Q9NQI0 DDX4_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA. 540 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TCTTGTAGGGGATGAAAGAAC 0.313000 109 77 0 0 0.014410 0 0 COL28A1 340267 broad.mit.edu 37 7 7457503 7457503 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:7457503G>A uc003src.1 - 26 2240 c.2123C>T c.(2122-2124)tCa>tTa p.S708L COL28A1_uc011jxe.1_Missense_Mutation_p.S391L|COL28A1_uc003srd.3_Missense_Mutation_p.S263L NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 708 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AATTCCCTGTGATCCATAGCC 0.468000 32 49 0 0 0.014410 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54661835 54661835 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:54661835A>C uc003dhf.3 + 9 1033 c.985A>C c.(985-987)Aaa>Caa p.K329Q CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.K235Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.K63Q NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 329 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GCATCTGGACAAACTTTTCGC 0.413000 6 6 0 0 0.001984 0 0 PTPRA 5786 broad.mit.edu 37 20 3005228 3005228 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:3005228C>T uc010zqd.2 + 15 1925 c.1608C>T c.(1606-1608)atC>atT p.I536I PTPRA_uc002whj.3_Silent_p.I525I|PTPRA_uc002whk.3_Silent_p.I516I|PTPRA_uc002whl.3_Silent_p.I516I|PTPRA_uc002whm.3_Silent_p.I292I|PTPRA_uc002whn.3_Silent_p.I516I|PTPRA_uc002who.3_Silent_p.I188I NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 525 Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ACAACAAAATCCCAGGGACCA 0.443000 53 60 0 0 0.014410 0 0 EPHA6 285220 broad.mit.edu 37 3 96706553 96706553 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:96706553G>A uc010how.1 + 2 873 c.830G>A c.(829-831)gGa>gAa p.G277E EPHA6_uc003drp.1_Missense_Mutation_p.G277E NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 182 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GAAAGGAAAGGATTTTATCTG 0.458000 143 93 0 0 0.014410 0 0 KMO 8564 broad.mit.edu 37 1 241755436 241755436 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:241755436C>T uc009xgp.3 + 14 1753 c.1442C>T c.(1441-1443)tCc>tTc p.S481F NM_003679 NP_003670 O15229 KMO_HUMAN Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA. 481 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GAACAAATTTCCAATCTCATT 0.418000 2 42 0 0 0.009718 0 0 RPN2 6185 broad.mit.edu 37 20 35838557 35838557 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:35838557C>T uc002xgp.3 + 7 1279 c.975C>T c.(973-975)ttC>ttT p.F325F RPN2_uc010gfw.2_Silent_p.F168F|RPN2_uc002xgq.3_Silent_p.F293F|RPN2_uc021wdb.1_Silent_p.F107F NM_002951 NP_002942 P04844 RPN2_HUMAN Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. 325 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) AGACATCCTTCACCCCTGTAG 0.468000 45 36 0 0 0.003755 0 0 DCLK3 85443 broad.mit.edu 37 3 36778708 36778708 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:36778708T>A uc003cgi.2 - 1 1934 c.1443A>T c.(1441-1443)gaA>gaT p.E481D NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 481 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.P480P(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CCAAAAGGTTTTCCGGCTTGA 0.448000 16 22 0 0 0.004656 0 0 MAGEC3 139081 broad.mit.edu 37 X 140983291 140983291 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140983291G>A uc011mwp.2 + 5 1069 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 357 MAGE 1. p.Q356K(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGACAGGAAGATGGCCG 0.592000 11 32 0 0 0.012213 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735962 12735962 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:12735962C>T uc004cuz.2 + 15 3523 c.3017C>T c.(3016-3018)tCg>tTg p.S1006L FRMPD4_uc011mij.2_Missense_Mutation_p.S998L NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 1006 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GAGACTAAGTCGGTCACTGAC 0.537000 66 68 0 0 0.014410 0 0 DMD 1756 broad.mit.edu 37 X 31190524 31190524 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:31190524T>C uc004dda.1 - 72 10579 c.10335A>G c.(10333-10335)gcA>gcG p.A3445A DMD_uc004dcq.1_Silent_p.A716A|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Silent_p.A985A|DMD_uc004dcu.1_Silent_p.A985A|DMD_uc004dcv.1_Silent_p.A972A|DMD_uc004dcw.2_Silent_p.A2101A|DMD_uc004dcx.2_Silent_p.A2104A|DMD_uc004dcz.2_Silent_p.A3322A|DMD_uc004dcy.1_Silent_p.A3441A|DMD_uc004ddb.1_Silent_p.A3437A|DMD_uc004dcp.1_Silent_p.A364A|DMD_uc011mkb.1_Intron|DMD_uc004dcm.1_Silent_p.A377A|DMD_uc004dcn.1_Silent_p.A364A|DMD_uc004dco.1_Silent_p.A377A NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3445 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTTCCATTTCTGCTAGCCTGA 0.333000 18 15 0 0 0.002450 0 0 NOL4 8715 broad.mit.edu 37 18 31803000 31803000 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:31803000C>T uc010dmi.3 - 0 516 c.218G>A c.(217-219)gGa>gAa p.G73E NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Missense_Mutation_p.G73E|NOL4_uc002kxt.4_Missense_Mutation_p.G73E NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 73 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GCCGCCGCCTCCCCCGCGGAC 0.622000 26 20 0 0 0.008871 0 0 UGT2B4 7363 broad.mit.edu 37 4 70350973 70350973 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:70350973C>T uc003hek.4 - 4 1310 c.1263G>A c.(1261-1263)tcG>tcA p.S421S UGT2B4_uc011cap.2_Silent_p.S285S|UGT2B4_uc003hel.4_Intron NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 421 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AGTCTGTACTCGACATTGTGT 0.418000 80 60 0 0 0.014410 0 0 AGPAT4 56895 broad.mit.edu 37 6 161575237 161575237 + Missense_Mutation SNP G A A rs143406726 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:161575237G>A uc003qtr.1 - 3 681 c.454C>T c.(454-456)Cgc>Tgc p.R152C AGPAT4_uc003qts.1_Missense_Mutation_p.R12C|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.R152C|AGPAT4_uc011egd.1_Missense_Mutation_p.R90C|AGPAT4_uc011ege.1_Missense_Mutation_p.S95L NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA. 152 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) ACCGTCTTGCGATCCTGCTCC 0.562000 6 32 0 0 0.004878 0 0 STAT4 6775 broad.mit.edu 37 2 191897687 191897687 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:191897687C>T uc002usm.2 - 20 2356 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K STAT4_uc002usn.2_Missense_Mutation_p.E681K|STAT4_uc010zgk.1_Missense_Mutation_p.E526K|STAT4_uc002uso.2_Missense_Mutation_p.E681K NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 681 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) ACCTAACCTTCGCAAGGCTGA 0.363000 32 24 0 0 0.002780 0 0 SCG2 7857 broad.mit.edu 37 2 224463493 224463493 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:224463493A>G uc021vxk.1 - 0 508 c.508T>C c.(508-510)Tat>Cat p.Y170H SCG2_uc002vnm.3_Missense_Mutation_p.Y170H NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 170 MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTCTCTTCATACATAGGAGGG 0.403000 76 49 0 0 0.014410 0 0 MMP19 4327 broad.mit.edu 37 12 56231370 56231370 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:56231370C>T uc001sib.3 - 7 1278 c.1157G>A c.(1156-1158)tGg>tAg p.W386* MMP19_uc001sia.3_Nonsense_Mutation_p.W100*|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron NM_002429 NP_002420 Q99542 MMP19_HUMAN Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA. 386 Hemopexin-like 3. angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 GTTGAGAGGCCAATAGAGAGC 0.458000 55 48 0 0 0.014410 0 0 C1orf74 148304 broad.mit.edu 37 1 209956583 209956583 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:209956583G>A uc001hhp.1 - 1 640 c.397C>T c.(397-399)Cag>Tag p.Q133* C1orf74_uc021pio.1_Nonsense_Mutation_p.Q133* NM_152485 NP_689698 Q96LT6 CA074_HUMAN Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA. 133 endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(81;0.0328) TTCAAGTCCTGAAGCTGGTCC 0.547000 43 37 0 0 0.005524 0 0 LIPI 149998 broad.mit.edu 37 21 15561577 15561577 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:15561577G>A uc002yjm.3 - 1 283 c.273C>T c.(271-273)ttC>ttT p.F91F LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F70F|LIPI_uc021whh.1_Silent_p.F70F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F70F|LIPI_uc021whe.1_Silent_p.F70F|LIPI_uc021whf.1_Silent_p.F70F NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 70 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.F91F(2) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTGTGTGTTGAAATTAACAT 0.383000 32 44 0 0 0.011902 0 0 ANK3 288 broad.mit.edu 37 10 62021678 62021678 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:62021678C>T uc001jky.3 - 6 1075 c.737G>A c.(736-738)gGa>gAa p.G246E ANK3_uc010qih.2_Missense_Mutation_p.G229E|ANK3_uc001jkz.4_Missense_Mutation_p.G240E|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 246 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATTGATATTTCCATAGTGAGC 0.468000 26 22 0 0 0.003954 0 0 ODZ2 57451 broad.mit.edu 37 5 167689721 167689721 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:167689721G>A uc010jjd.3 + 28 8204 c.8204G>A c.(8203-8205)gGa>gAa p.G2735E ODZ2_uc003lzr.4_Missense_Mutation_p.G2505E|ODZ2_uc003lzt.4_Missense_Mutation_p.G2108E|ODZ2_uc010jje.3_Missense_Mutation_p.G1999E NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GGGTACGAGGGATATTACGTG 0.552000 8 5 0 0 0.000602 0 0 EGF 1950 broad.mit.edu 37 4 110925679 110925679 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:110925679G>A uc003hzy.4 + 21 3644 c.3192G>A c.(3190-3192)tcG>tcA p.S1064S EGF_uc011cfu.2_Silent_p.S1022S|EGF_uc011cfv.2_Silent_p.S1023S|EGF_uc010imk.3_Silent_p.S212S NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 1064 DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGCTGCTATCGAAAAACCCAA 0.473000 84 65 0 0 0.014410 0 0 CACNG2 10369 broad.mit.edu 37 22 36960495 36960495 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:36960495C>T uc003aps.2 - 3 944 c.875G>A c.(874-876)aGg>aAg p.R292K NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 292 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GCTGTTATCCCTGTCGGAGTT 0.592000 29 14 0 0 0.004990 0 0 DYTN 391475 broad.mit.edu 37 2 207527702 207527702 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:207527702C>T uc002vbr.1 - 10 1675 c.1558G>A c.(1558-1560)Gat>Aat p.D520N NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 520 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCCAGCTCATCCTTTCTCTCC 0.458000 86 76 0 0 0.014410 0 0 SULT1E1 6783 broad.mit.edu 37 4 70713508 70713508 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:70713508G>A uc003heo.3 - 5 612 c.499C>T c.(499-501)Cct>Tct p.P167S NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 167 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 GAACCATAAGGAACTAAAATT 0.338000 35 29 0 0 0.008361 0 0 LGALS9 3965 broad.mit.edu 37 17 25974345 25974345 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:25974345C>T uc002gzp.3 + 9 926 c.808C>T c.(808-810)Ccc>Tcc p.P270S LGALS9_uc002gzq.3_Missense_Mutation_p.P238S|LGALS9_uc002gzr.3_Missense_Mutation_p.P181S|LGALS9_uc010waa.2_Intron NM_009587 NP_033665 O00182 LEG9_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA. 270 Galectin 2. P -> L (in Ref. 1; CAA88922). positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CCACCTGAACCCCCGTTTTGA 0.572000 31 14 0 0 0.003163 0 0 TGM3 7053 broad.mit.edu 37 20 2321101 2321101 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:2321101G>A uc002wfx.4 + 12 2053 c.1956G>A c.(1954-1956)aaG>aaA p.K652K NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 652 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) TAGGGCCCAAGGAGGGGTCCC 0.617000 59 34 0 0 0.004878 0 0 SLIT2 9353 broad.mit.edu 37 4 20619147 20619147 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:20619147G>A uc003gpr.1 + 35 4426 c.4222G>A c.(4222-4224)Gaa>Aaa p.E1408K SLIT2_uc003gps.1_Missense_Mutation_p.E1400K NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1408 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CCTCTGTGATGAAGAGGAGGA 0.552000 13 15 0 0 0.004007 0 0 CRB2 286204 broad.mit.edu 37 9 126132692 126132692 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:126132692C>T uc004bnx.1 + 6 1452 c.1360C>T c.(1360-1362)Cca>Tca p.P454S CRB2_uc004bnw.1_Missense_Mutation_p.P454S NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 454 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGCATCAGTGCCAGCTGGTGG 0.612000 3 16 0 0 0.006122 0 0 CASR 846 broad.mit.edu 37 3 122002961 122002961 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:122002961G>A uc003eew.4 + 6 2628 c.2190G>A c.(2188-2190)ggG>ggA p.G730G CASR_uc003eev.4_Silent_p.G720G NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 720 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.L730L(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGTGGTGGGGGCTCAACCTGC 0.572000 11 16 0 0 0.004007 0 0 SSPO 23145 broad.mit.edu 37 7 149486319 149486319 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:149486319C>T uc010lpk.3 + 29 4295 c.4295C>T c.(4294-4296)gCc>gTc p.A1432V NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 1432 LDL-receptor class A 2. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCCCCTGGCCCTGCTCTGT 0.672000 16 23 0 0 0.006320 0 0 MYH6 4624 broad.mit.edu 37 14 23870036 23870036 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:23870036G>T uc001wjv.3 - 12 1363 c.1292C>A c.(1291-1293)gCa>gAa p.A431E MYH6_uc010akp.2_Missense_Mutation_p.A431E NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 431 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCATACACTGCCTTGGCCAG 0.582000 50 39 2.66277e-13 3.60416e-13 0.006999 1 0 GAS7 8522 broad.mit.edu 37 17 9873045 9873045 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:9873045G>A uc002gmg.1 - 3 581 c.420C>T c.(418-420)caC>caT p.H140H GAS7_uc010vvd.1_Silent_p.H92H|GAS7_uc002gmi.2_Silent_p.H76H|GAS7_uc002gmj.1_Silent_p.H80H|GAS7_uc010coh.1_Silent_p.H80H NM_201433 NP_001124303 O60861 GAS7_HUMAN Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA. 140 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 TCTCTGGAGGGTGCGCTGGGG 0.607000 T MLL AML* 32 27 0 0 0.009535 0 0 FAM123B 139285 broad.mit.edu 37 X 63412503 63412503 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:63412503G>A uc022byb.1 - 0 664 c.664C>T c.(664-666)Caa>Taa p.Q222* FAM123B_uc004dvo.3_Nonsense_Mutation_p.Q222* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 222 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67)|p.Q222*(1) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 CTAGGGGCTTGGAAGGTCTCC 0.577000 31 28 0 0 0.008361 0 0 ARMC4 55130 broad.mit.edu 37 10 28196681 28196681 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28196681G>A uc009xky.3 - 16 2619 c.2521C>T c.(2521-2523)Cgt>Tgt p.R841C ARMC4_uc010qds.2_Missense_Mutation_p.R366C|ARMC4_uc010qdt.2_Missense_Mutation_p.R533C|ARMC4_uc001itz.3_Missense_Mutation_p.R841C NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 841 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CACAACAAACGAACTCCATCT 0.423000 23 23 0 0 0.007291 0 0 CAB39 51719 broad.mit.edu 37 2 231663564 231663564 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:231663564C>T uc002vqx.3 + 4 951 c.519C>T c.(517-519)gtC>gtT p.V173V CAB39_uc010fxr.3_Silent_p.V173V|CAB39_uc010fxq.3_Silent_p.V173V NM_016289 NP_057373 Q9Y376 CAB39_HUMAN Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA. 173 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) TCAGATATGTCGAAATGTCAA 0.348000 15 14 0 0 0.002450 0 0 RNF19B 127544 broad.mit.edu 37 1 33402701 33402701 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:33402701G>A uc010oho.2 - 8 1905 c.1905C>T c.(1903-1905)ccC>ccT p.P635P RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.P634P NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA. 635 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GTCTGCAGGGGGGATCCTCTT 0.562000 5 102 0 0 0.014410 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648538 41648538 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:41648538G>A uc003gvz.4 + 16 2865 c.2448G>A c.(2446-2448)aaG>aaA p.K816K LIMCH1_uc003gwe.4_Silent_p.K431K|LIMCH1_uc003gvu.4_Silent_p.K431K|LIMCH1_uc003gvv.4_Silent_p.K431K|LIMCH1_uc003gvw.4_Silent_p.K431K|LIMCH1_uc003gvx.4_Silent_p.K419K|LIMCH1_uc003gvy.4_Silent_p.K260K|LIMCH1_uc003gwa.4_Silent_p.K272K|LIMCH1_uc011byu.2_Silent_p.K265K|LIMCH1_uc003gwc.4_Silent_p.K277K|LIMCH1_uc003gwd.4_Silent_p.K265K|LIMCH1_uc011byv.2_Silent_p.K182K NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 431 Glu-rich. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AAGCATATAAGAACGCTCGGT 0.468000 45 51 0 0 0.014410 0 0 CCDC68 80323 broad.mit.edu 37 18 52608288 52608288 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:52608288C>T uc002lfs.3 - 3 316 c.144G>A c.(142-144)agG>agA p.R48R CCDC68_uc002lft.3_Silent_p.R48R NM_001143829 NP_079490 Q9H2F9 CCD68_HUMAN Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA. 48 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) ACATCTGGGTCCTGATCTTTT 0.343000 24 19 0 0 0.012319 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210416 3210416 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:3210416C>T uc010zqe.2 - 13 1750 c.1625G>A c.(1624-1626)tGg>tAg p.W542* SLC4A11_uc002wig.3_Nonsense_Mutation_p.W515*|SLC4A11_uc002wih.3_Intron|SLC4A11_uc010zqf.2_Nonsense_Mutation_p.W499* NM_001174090 NP_001167561 Q8NBS3 S4A11_HUMAN Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA. 515 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GTAGTACTTCCAGAAGACTGT 0.602000 35 27 0 0 0.004289 0 0 TSPEAR 54084 broad.mit.edu 37 21 45941922 45941922 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:45941922G>A uc002zfe.1 - 8 1476 c.1410C>T c.(1408-1410)acC>acT p.T470T TSPEAR_uc010gpv.1_Silent_p.T402T NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA. 470 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 AGGTGGCGATGGTCTGGTTGG 0.617000 74 60 0 0 0.014410 0 0 RPSA 3921 broad.mit.edu 37 3 39449165 39449166 + Silent DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:39449165_39449166CC>TT uc003cjq.3 + 1 106_107 c.21_22CC>TT c.(19-24)gtcctg>gtTTtg p.7_8VL>VL RPSA_uc003cjp.3_Silent_p.7_8VL>VL|SNORA6_uc003cjs.1_5'Flank NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 7 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome p.V7V(2) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) cccttgatgtcctgcaaatgaa 0.421000 24 15 0 0 0.004672 0 0 POTEG 404785 broad.mit.edu 37 14 19573107 19573107 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:19573107C>T uc001vuz.1 + 7 1257 c.1205C>T c.(1204-1206)tCt>tTt p.S402F POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 402 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CAGGAAATGTCTCAAGAACCA 0.289000 132 13 0 0 0.012319 0 0 MAPKAPK5 8550 broad.mit.edu 37 12 112308966 112308966 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:112308966T>C uc001tta.3 + 6 820 c.561T>C c.(559-561)ccT>ccC p.P187P MAPKAPK5_uc001tsz.3_Silent_p.P187P NM_139078 NP_620777 Q8IW41 MAPK5_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA. 187 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity endometrium(1)|lung(11)|ovary(1) 13 AGTTCACCCCTTATTATGTAG 0.448000 54 43 0 0 0.014410 0 0 NPAS4 266743 broad.mit.edu 37 11 66190155 66190155 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:66190155C>T uc001ohx.1 + 3 617 c.441C>T c.(439-441)ttC>ttT p.F147F NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 147 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 ATCGCCTCTTCCGCTGCCGCT 0.547000 25 22 0 0 0.002780 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:16279248C>T uc010gqp.2 - 3 1027 c.975G>A c.(973-975)gtG>gtA p.V325V POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 478 60 0 0 0.014410 0 0 PCSK9 255738 broad.mit.edu 37 1 55512301 55512301 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:55512301G>A uc001cyf.2 + 2 867 c.505G>A c.(505-507)Gat>Aat p.D169N PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 169 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GTACCGGGCGGATGAATACCA 0.622000 15 185 0 0 0.014410 0 0 CTNND2 1501 broad.mit.edu 37 5 11397206 11397206 + Silent SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:11397206G>T uc003jfa.1 - 5 694 c.549C>A c.(547-549)acC>acA p.T183T CTNND2_uc010itt.2_Silent_p.T92T|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 183 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTGAAGGGGTGGTTTCCCCCA 0.597000 37 28 6.32553e-13 8.5579e-13 0.004656 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993630 140993630 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140993630C>T uc004fbt.3 + 3 764 c.440C>T c.(439-441)tCc>tTc p.S147F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 147 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) TTCCAGAGTTCCCCTGAGAGT 0.498000 HNSCC(15;0.026) 73 106 0 0 0.014410 0 0 TLL1 7092 broad.mit.edu 37 4 166929157 166929157 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:166929157G>A uc003irh.2 + 6 1521 c.874G>A c.(874-876)Gat>Aat p.D292N TLL1_uc021xud.1_Missense_Mutation_p.D292N|TLL1_uc011cjn.2_Missense_Mutation_p.D292N|TLL1_uc011cjo.2_Missense_Mutation_p.D116N NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 292 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGAAAGATATGATTTCGACAG 0.408000 41 22 0 0 0.003330 0 0 SARDH 1757 broad.mit.edu 37 9 136584063 136584063 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:136584063C>T uc004cep.4 - 6 1151 c.1017G>A c.(1015-1017)gaG>gaA p.E339E SARDH_uc004ceo.3_Silent_p.E339E|SARDH_uc011mdo.2_Silent_p.E171E|SARDH_uc011mdn.2_Silent_p.E339E NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 339 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) ATCTTACCTCCTCCCAAAAGA 0.572000 3 18 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13829759 13829759 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:13829759G>A uc003jfd.2 - 37 6346 c.6304C>T c.(6304-6306)Cgc>Tgc p.R2102C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2102 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2102C(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCACTGAGCGGAAATTAATC 0.448000 Kartagener syndrome 46 39 0 0 0.013114 0 0 TACR3 6870 broad.mit.edu 37 4 104640528 104640528 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:104640528C>T uc003hxe.1 - 0 446 c.305G>A c.(304-306)gGa>gAa p.G102E NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 102 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GATGAGATTTCCCAAAACTGC 0.597000 43 27 0 0 0.012213 0 0 SERPINA10 51156 broad.mit.edu 37 14 94752588 94752588 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94752588C>T uc001yct.3 - 3 1466 c.1000G>A c.(1000-1002)Gaa>Aaa p.E334K SERPINA10_uc001ycu.4_Missense_Mutation_p.E334K NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 334 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AAGAAAACTTCCATGTTTCTG 0.398000 29 18 0 0 0.012319 0 0 TFPI 7035 broad.mit.edu 37 2 188361661 188361661 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:188361661C>T uc002upy.3 - 2 561 c.266G>A c.(265-267)gGa>gAa p.G89E TFPI_uc002uqa.2_Missense_Mutation_p.G89E|TFPI_uc002uqb.2_Missense_Mutation_p.G89E NM_006287 NP_006278 P10646 TFPI1_HUMAN Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA. 89 BPTI/Kunitz inhibitor 1. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) ATTCTGATTTCCTTCACATCC 0.388000 48 25 0 0 0.005443 0 0 CACNA1D 776 broad.mit.edu 37 3 53844187 53844187 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:53844187C>T uc003dgv.4 + 46 6217 c.6054C>T c.(6052-6054)tcC>tcT p.S2018S CACNA1D_uc003dgu.4_Silent_p.S2038S|CACNA1D_uc003dgy.4_Silent_p.S1994S|CACNA1D_uc003dgw.4_Silent_p.S1685S|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 2018 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCCTGCCGTCCCTGCACCGCA 0.627000 13 12 0 0 0.013537 0 0 CXCR2 3579 broad.mit.edu 37 2 219000488 219000488 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:219000488C>T uc002vgz.2 + 3 1174 c.964C>T c.(964-966)Cgc>Tgc p.R322C CXCR2_uc002vha.2_Missense_Mutation_p.R322C|CXCR2_uc002vhb.2_Missense_Mutation_p.R322C|CXCR2_uc021vwp.1_Missense_Mutation_p.R322C NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 322 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 CCAGAAGTTTCGCCATGGACT 0.547000 58 37 0 0 0.007835 0 0 MFN1 55669 broad.mit.edu 37 3 179096428 179096428 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:179096428C>T uc003fjt.3 + 12 1579 c.1572C>T c.(1570-1572)atC>atT p.I524I MFN1_uc003fjs.3_Silent_p.I496I|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA. 496 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATACACTGATCCCTTGCAAGA 0.328000 14 17 0 0 0.008871 0 0 KCTD19 146212 broad.mit.edu 37 16 67327805 67327805 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:67327805C>T uc002esu.2 - 11 1911 c.1860G>A c.(1858-1860)caG>caA p.Q620Q KCTD19_uc002est.2_Silent_p.Q392Q|KCTD19_uc010vjj.1_Silent_p.Q363Q NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 620 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TTTCAGATTTCTGTGTGAGGT 0.522000 74 46 0 0 0.009718 0 0 MYH8 4626 broad.mit.edu 37 17 10307703 10307703 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10307703C>T uc002gmm.2 - 21 2727 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 878 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.E877Q(1) 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 ACCATTTTTTCCTCTAGCTCC 0.433000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 37 23 0 0 0.014323 0 0 ZNF470 388566 broad.mit.edu 37 19 57088722 57088722 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:57088722G>A uc002qnl.4 + 5 1601 c.925G>A c.(925-927)Gag>Aag p.E309K ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TCATACTGGAGAGAAACCTTA 0.438000 27 37 0 0 0.006230 0 0 OAS3 4940 broad.mit.edu 37 12 113376405 113376405 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:113376405G>A uc001tug.3 + 0 157 c.70G>A c.(70-72)Gag>Aag p.E24K OAS3_uc001tue.3_Missense_Mutation_p.E24K|OAS3_uc001tuf.3_Missense_Mutation_p.E24K NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 24 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GCCGCGGAAGGAGTTCGTAGA 0.726000 11 5 0 0 0.004482 0 0 MYH15 22989 broad.mit.edu 37 3 108182015 108182015 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:108182015T>G uc003dxa.1 - 16 1924 c.1867A>C c.(1867-1869)Aag>Cag p.K623Q NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 623 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTGGAAGACTTCTGAAATACA 0.408000 92 64 0 0 0.014410 0 0 ABCD3 5825 broad.mit.edu 37 1 94982685 94982685 + Nonstop_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:94982685G>C uc010oto.2 + 23 2154 c.2052G>C c.(2050-2052)taG>taC p.*684Y ABCD3_uc001dqn.4_Nonstop_Mutation_p.*660Y|ABCD3_uc010otp.2_Nonstop_Mutation_p.*587Y|ABCD3_uc009wdr.3_Nonstop_Mutation_p.*550Y|ABCD3_uc001dqo.4_Nonstop_Mutation_p.*348Y NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 0 peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTGGCTCTTAGAGAAATCTGG 0.343000 5 82 0 0 0.014410 0 0 ANK3 288 broad.mit.edu 37 10 61973199 61973199 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:61973199G>A uc001jky.3 - 8 1305 c.967C>T c.(967-969)Cga>Tga p.R323* ANK3_uc010qih.2_Nonsense_Mutation_p.R306*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R317*|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 323 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGGGCAGCTCGATCAAGCAAC 0.418000 24 29 0 0 0.003755 0 0 WT1-AS 51352 broad.mit.edu 37 11 32460426 32460426 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:32460426G>A uc021qfr.1 + 0 c.952G>A WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024). endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 AGAGCTAATGGGATGCAGAGG 0.537000 16 7 0 0 0.003080 0 0 OR13H1 347468 broad.mit.edu 37 X 130678528 130678528 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:130678528C>T uc011muw.2 + 0 481 c.481C>T c.(481-483)Cta>Tta p.L161L IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CATGCTCATCCTATCCCTGAG 0.493000 101 220 0 0 0.014410 0 0 SH2D1B 117157 broad.mit.edu 37 1 162372562 162372562 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:162372562G>A uc001gbz.1 - 1 287 c.165C>T c.(163-165)atC>atT p.I55I SH2D1B_uc001gca.1_Silent_p.I55I NM_053282 NP_444512 O14796 SH21B_HUMAN Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA. 55 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TCTCTCTGAAGATTCGGTATG 0.378000 108 23 0 0 0.006320 0 0 DENND2C 163259 broad.mit.edu 37 1 115079237 115079237 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:115079237G>A uc001eez.3 - 28 c.4406C>T NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCAAGAAGGGTGTGAACCT 0.542000 0 54 0 0 0.014410 0 0 SYNE1 23345 broad.mit.edu 37 6 152737899 152737899 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:152737899C>T uc021zhb.1 - 38 5896 c.5673G>A c.(5671-5673)gtG>gtA p.V1891V SYNE1_uc003qot.4_Silent_p.V1898V|SYNE1_uc003qou.4_Silent_p.V1891V|SYNE1_uc010kjb.1_Silent_p.V1874V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 1891 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) TGGTTGCTTCCACTGTTTGCC 0.493000 HNSCC(10;0.0054) 3 25 0 0 0.003954 0 0 GPRIN1 114787 broad.mit.edu 37 5 176024822 176024822 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:176024822G>A uc003meo.1 - 1 2189 c.2014C>T c.(2014-2016)Cct>Tct p.P672S GPRIN1_uc021yif.1_Missense_Mutation_p.P672S NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA. 672 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGGATCCAGGATCCACCTTC 0.587000 18 14 0 0 0.001855 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101627249 101627249 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:101627249C>T uc003knm.3 - 1 704 c.417G>A c.(415-417)atG>atA p.M139I NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 139 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GGGAACTCTTCATTTCATAAC 0.338000 22 13 0 0 0.002450 0 0 DCLK1 9201 broad.mit.edu 37 13 36379876 36379876 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:36379876C>T uc001uvf.3 - 14 2187 c.1904G>A c.(1903-1905)cGa>cAa p.R635Q MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.R328Q|DCLK1_uc010teh.2_Missense_Mutation_p.R328Q|DCLK1_uc010abk.3_Missense_Mutation_p.R155Q NM_004734 NP_004725 O15075 DCLK1_HUMAN Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA. 635 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AGCAGAAAATCGCTGATCTAC 0.413000 63 52 0 0 0.014410 0 0 CCDC135 84229 broad.mit.edu 37 16 57755588 57755588 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:57755588G>A uc002emi.3 + 8 1305 c.1216G>A c.(1216-1218)Gat>Aat p.D406N CCDC135_uc002emj.3_Missense_Mutation_p.D406N|CCDC135_uc002emk.3_Missense_Mutation_p.D341N NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 406 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 GGGCAAGGAGGATGAGGATAA 0.532000 32 22 0 0 0.008361 0 0 GCLC 2729 broad.mit.edu 37 6 53373488 53373488 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:53373488G>A uc003pbw.2 - 7 1334 c.850C>T c.(850-852)Ccc>Tcc p.P284S GCLC_uc003pbv.1_Missense_Mutation_p.P8S|GCLC_uc021zau.1_Missense_Mutation_p.P246S NM_001498 NP_001489 P48506 GSH1_HUMAN Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA. 284 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding p.P284P(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CGGTAAAAGGGAGATGCAGCA 0.443000 31 39 0 0 0.008740 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553608 140553608 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140553608G>A uc003lit.3 + 0 1366 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 398 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E398K(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCATCTGTCGAAAACTTCTA 0.493000 32 28 0 0 0.005443 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72498703 72498703 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:72498703G>A uc001jrg.3 + 10 1714 c.1714G>A c.(1714-1716)Ggg>Agg p.G572R ADAMTS14_uc001jrh.3_Missense_Mutation_p.G569R|ADAMTS14_uc001jri.1_Missense_Mutation_p.G92R NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 569 TSP type-1 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GCGGTCATGTGGGGGCGGGGT 0.647000 17 16 0 0 0.004990 0 0 MAP2K5 5607 broad.mit.edu 37 15 68040913 68040913 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:68040913C>T uc002aqu.3 + 18 1761 c.1108C>T c.(1108-1110)Cag>Tag p.Q370* MAP2K5_uc002aqv.3_Nonsense_Mutation_p.Q360*|MAP2K5_uc010ujw.2_Nonsense_Mutation_p.Q334*|MAP2K5_uc002aqx.3_Nonsense_Mutation_p.Q180* NM_145160 NP_660143 Q13163 MP2K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA. 370 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 GCAGCCTCTCCAGCTTCTGCA 0.373000 35 26 0 0 0.007291 0 0 BUD31 8896 broad.mit.edu 37 7 99015269 99015269 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:99015269T>C uc011kiu.1 + 4 636 c.435T>C c.(433-435)ccT>ccC p.P145P BUD31_uc003uqf.3_Intron|BUD31_uc011kiv.1_Silent_p.P145P|BUD31_uc003uqg.4_Intron|ATP5J2-PTCD1_uc003uqh.3_3'UTR|ATP5J2-PTCD1_uc011kiw.2_3'UTR NM_003910 NP_003901 P41223 BUD31_HUMAN Homo sapiens BUD31 homolog (S. cerevisiae) (BUD31), mRNA. 0 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AAATTCTGCCTTAGTCGACTG 0.512000 19 9 0 0 0.006214 0 0 ZNF236 7776 broad.mit.edu 37 18 74617298 74617298 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:74617298C>T uc002lmi.3 + 12 2416 c.2218C>T c.(2218-2220)Ccc>Tcc p.P740S ZNF236_uc002lmj.3_Non-coding_Transcript NM_007345 NP_031371 Q9UL36 ZN236_HUMAN Homo sapiens zinc finger protein 236 (ZNF236), mRNA. 740 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) CGACCTTCGTCCCTATATGTG 0.433000 14 20 0 0 0.012319 0 0 TP63 8626 broad.mit.edu 37 3 189612186 189612186 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:189612186C>T uc003fry.2 + 13 2027 c.1938C>T c.(1936-1938)ctC>ctT p.L646L TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.L552L|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.L467L NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 646 Transactivation inhibition. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GATTCACCCTCCGCCAGACCA 0.562000 HNSCC(45;0.13) 51 41 0 0 0.006999 0 0 BEND2 139105 broad.mit.edu 37 X 18209205 18209205 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:18209205C>T uc004cyj.4 - 7 1358 c.1204G>A c.(1204-1206)Ggg>Agg p.G402R BEND2_uc010nfb.2_Missense_Mutation_p.G311R NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 402 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CTCATTGTCCCATAACTCATT 0.368000 44 43 0 0 0.010771 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601364 13601364 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:13601364G>A uc003gmz.1 - 9 7277 c.7160C>T c.(7159-7161)cCt>cTt p.P2387L BOD1L1_uc010idr.1_Missense_Mutation_p.P1724L NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 2387 DNA binding GACTGGCCCAGGACACCGACA 0.602000 50 45 0 0 0.009718 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993622 140993622 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140993622C>T uc004fbt.3 + 3 756 c.432C>T c.(430-432)ttC>ttT p.F144F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 144 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) TGAGTATTTTCCAGAGTTCCC 0.502000 HNSCC(15;0.026) 67 91 0 0 0.014410 0 0 GRM8 2918 broad.mit.edu 37 7 126086241 126086241 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:126086241T>G uc003vlr.2 - 8 2927 c.2616A>C c.(2614-2616)aaA>aaC p.K872N GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.K872N|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 872 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGTCATTTCCTTTTTGGATCA 0.428000 HNSCC(24;0.065) 119 64 0 0 0.014410 0 0 STAB1 23166 broad.mit.edu 37 3 52551991 52551991 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:52551991G>A uc003dej.3 + 44 4807 c.4733G>A c.(4732-4734)gGc>gAc p.G1578D STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1578 EGF-like 13. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.D1577D(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GTGGGGGACGGCCTCACCTGC 0.612000 30 20 0 0 0.003330 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141325 143141325 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143141325C>T uc011ktg.2 + 0 780 c.780C>T c.(778-780)ttC>ttT p.F260F LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 260 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTCATATTTCCTGTCACTGG 0.493000 93 125 0 0 0.014410 0 0 KCNK18 338567 broad.mit.edu 37 10 118969431 118969431 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:118969431G>A uc010qsr.2 + 2 776 c.776G>A c.(775-777)gGa>gAa p.G259E NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 259 integral to membrane|plasma membrane p.L258F(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CTGGTGTTGGGAAGACTCTCA 0.517000 33 37 0 0 0.005524 0 0 CHD5 26038 broad.mit.edu 37 1 6188267 6188268 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:6188267_6188268CC>TT uc001amb.2 - 24 3852_3853 c.3741_3742GG>AA c.(3739-3744)aaggac>aaAAac p.D1248N CHD5_uc001alz.2_Missense_Mutation_p.D105N|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 1248 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCCTCCACGTCCTTGTTGTCAC 0.584000 3 38 0 0 0.004672 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996397 140996397 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140996397C>T uc004fbt.3 + 3 3531 c.3207C>T c.(3205-3207)ttC>ttT p.F1069F MAGEC1_uc010nsl.2_Silent_p.F136F|MAGEC1_uc022cfi.1_Silent_p.F728F NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1069 MAGE. protein binding p.F1069F(2) 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) GTTACGAATTCCTGTGGGGTC 0.488000 HNSCC(15;0.026) 190 84 0 0 0.014410 0 0 PPFIA2 8499 broad.mit.edu 37 12 81671177 81671177 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:81671177C>T uc001szo.2 - 27 3390 c.3229G>A c.(3229-3231)Gga>Aga p.G1077R PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G976R|PPFIA2_uc021rbh.1_Missense_Mutation_p.G972R|PPFIA2_uc021rbi.1_Missense_Mutation_p.G1071R|PPFIA2_uc021rbj.1_Missense_Mutation_p.G1056R|PPFIA2_uc021rbk.1_Missense_Mutation_p.G1062R|PPFIA2_uc021rbl.1_Missense_Mutation_p.G1077R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G613R|PPFIA2_uc021rbf.1_Missense_Mutation_p.G263R NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 976 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CACATAATTCCATATTGTAAA 0.308000 14 5 0 0 0.000602 0 0 OR2M4 26245 broad.mit.edu 37 1 248402794 248402794 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:248402794C>T uc010pzh.2 + 0 564 c.564C>T c.(562-564)tcC>tcT p.S188S NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) TACCTCTATCCTGCACAGAAA 0.403000 5 194 0 0 0.014410 0 0 ARMCX3 51566 broad.mit.edu 37 X 100880198 100880198 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:100880198C>T uc022cap.1 + 0 229 c.229C>T c.(229-231)Cca>Tca p.P77S ARMCX3_uc004ehz.1_Missense_Mutation_p.P77S|ARMCX3_uc004eia.1_Missense_Mutation_p.P77S|ARMCX3_uc004eib.1_Missense_Mutation_p.P77S|ARMCX3_uc004eic.1_Missense_Mutation_p.P77S NM_177948 NP_808817 Q9UH62 ARMX3_HUMAN Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA. 77 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 AGTATGGTACCCACCTTGGGC 0.572000 64 60 0 0 0.014410 0 0 GALNT14 79623 broad.mit.edu 37 2 31147002 31147002 + Missense_Mutation SNP C T T rs145602304 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:31147002C>T uc002rns.3 - 13 2018 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K GALNT14_uc002rnq.3_Missense_Mutation_p.E435K|GALNT14_uc010ymr.2_Missense_Mutation_p.E420K|GALNT14_uc002rnr.3_Missense_Mutation_p.E455K|GALNT14_uc010ezo.2_Missense_Mutation_p.E422K NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 455 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TTTGCATCTTCGCCTTTGACC 0.522000 83 78 0 0 0.014410 0 0 NME9 347736 broad.mit.edu 37 3 138023805 138023805 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:138023805C>T uc003esg.3 - 8 729 c.701G>A c.(700-702)aGg>aAg p.R234K NME9_uc003esd.1_Intron|NME9_uc010huf.1_Missense_Mutation_p.R149K|NME9_uc003ese.1_Missense_Mutation_p.R173K NM_178130 NP_835231 Q86XW9 TXND6_HUMAN Homo sapiens NME gene family member 9 (NME9), mRNA. 234 NDK. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity GCCCTCAGTCCTGGTGAGGAT 0.597000 263 200 0 0 0.014410 0 0 IQCE 23288 broad.mit.edu 37 7 2611196 2611196 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:2611196C>T uc003sml.1 + 3 351 c.167C>T c.(166-168)tCc>tTc p.S56F IQCE_uc010ksm.1_Missense_Mutation_p.S56F|IQCE_uc011jvy.1_Missense_Mutation_p.S40F|IQCE_uc011jvz.1_5'UTR|IQCE_uc003smo.4_Missense_Mutation_p.S56F|IQCE_uc003smk.4_Missense_Mutation_p.S40F|IQCE_uc003smn.4_5'UTR NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 56 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AAAGTGGCCTCCTGGAGGTCC 0.592000 83 36 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179400746 179400746 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179400746C>T uc021vsy.1 - 305 93249 c.93024G>A c.(93022-93024)ggG>ggA p.G31008G MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G24703G|TTN_uc021vta.1_Silent_p.G24636G|TTN_uc021vtb.1_Silent_p.G24511G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31935 Fibronectin type-III 126. 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) ACACAGATCCCCCTTGGTTGG 0.438000 42 40 0 0 0.014410 0 0 WDSUB1 151525 broad.mit.edu 37 2 160136445 160136445 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:160136445A>G uc002uaj.4 - 2 559 c.410T>C c.(409-411)gTt>gCt p.V137A WDSUB1_uc002uak.4_Missense_Mutation_p.V137A|WDSUB1_uc002ual.4_Missense_Mutation_p.V137A|WDSUB1_uc010foo.3_Missense_Mutation_p.V137A NM_152528 NP_689741 Q8N9V3 WSDU1_HUMAN Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA. 137 ubiquitin ligase complex ubiquitin-protein ligase activity p.V137A(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 GCCATCTTTAACACTACCACA 0.398000 7 8 0 0 0.004482 0 0 KCTD8 386617 broad.mit.edu 37 4 44450352 44450352 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:44450352G>A uc003gwu.3 - 0 473 c.189C>T c.(187-189)ctC>ctT p.L63L NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA. 63 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CCGGGACGCTGAGCAGCGTCG 0.711000 HNSCC(17;0.042) 9 5 0 0 0.001984 0 0 RELN 5649 broad.mit.edu 37 7 103270545 103270545 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:103270545G>A uc022ajr.1 - 19 2704 c.2544C>T c.(2542-2544)tcC>tcT p.S848S RELN_uc022ajq.1_Silent_p.S848S|RELN_uc010liz.3_Silent_p.S848S NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 848 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTTCTCTCTGGGAAGAATGAT 0.393000 78 41 0 0 0.008740 0 0 ALPK3 57538 broad.mit.edu 37 15 85383851 85383851 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:85383851G>A uc002ble.3 + 4 2114 c.1947G>A c.(1945-1947)aaG>aaA p.K649K NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 649 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGAGTCCCAAGGGGAAGGCAC 0.647000 15 16 0 0 0.003163 0 0 CDH23 64072 broad.mit.edu 37 10 73437276 73437276 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:73437276C>T uc001jrx.4 + 14 1962 c.1572C>T c.(1570-1572)atC>atT p.I524I CDH23_uc001jry.3_Silent_p.I524I|CDH23_uc001jrz.3_Silent_p.I524I NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 526 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATGAGCTCATCCAGCGCTTCA 0.602000 11 4 0 0 0.000602 0 0 SAMD7 344658 broad.mit.edu 37 3 169639115 169639116 + Missense_Mutation DNP GG AA AA rs138236130 by1000genomes TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:169639115_169639116GG>AA uc003fgd.3 + 3 467_468 c.200_201GG>AA c.(199-201)cgg>cAA p.R67Q SAMD7_uc003fge.3_Missense_Mutation_p.R67Q|SAMD7_uc011bpo.2_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 67 p.R67W(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TTGTCCAGTCGGATCTACCCAG 0.426000 25 24 0 0 0.004672 0 0 AQR 9716 broad.mit.edu 37 15 35185944 35185944 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:35185944C>T uc001ziv.3 - 22 2672 c.2491G>A c.(2491-2493)Gat>Aat p.D831N NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 831 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACTGCCACATCTGTTTTGCCT 0.408000 117 49 0 0 0.014410 0 0 SLC13A1 6561 broad.mit.edu 37 7 122839970 122839970 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:122839970G>A uc003vkm.3 - 0 56 c.31C>T c.(31-33)Cgc>Tgc p.R11C SLC13A1_uc010lks.3_5'UTR NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 11 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) AGAAATCGGCGATAAACCAGA 0.428000 44 21 0 0 0.012319 0 0 ZNF454 285676 broad.mit.edu 37 5 178392474 178392474 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:178392474G>A uc003mjo.2 + 4 1370 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K ZNF454_uc010jkz.2_Missense_Mutation_p.E357K|ZNF454_uc021yjc.1_Missense_Mutation_p.E357K NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA. 357 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) GAAACCCTTTGAATGTAATGA 0.393000 15 18 0 0 0.004990 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602185 58602185 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:58602185C>T uc001nnd.4 - 5 733 c.602G>A c.(601-603)gGa>gAa p.G201E GLYATL2_uc009ymq.3_Missense_Mutation_p.G201E NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 201 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CACACCAAATCCTAGAAAATC 0.463000 23 16 0 0 0.004007 0 0 RYR3 6263 broad.mit.edu 37 15 33925186 33925186 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:33925186G>A uc001zhi.3 + 23 2974 c.2904G>A c.(2902-2904)ttG>ttA p.L968L RYR3_uc010bar.3_Silent_p.L968L NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 968 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGCCCCTTTGGATTTGTCTG 0.368000 59 53 0 0 0.014410 0 0 BTBD17 388419 broad.mit.edu 37 17 72356380 72356380 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:72356380C>T uc002jkn.2 - 1 90 c.90G>A c.(88-90)caG>caA p.Q30Q NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA. 30 extracellular region endometrium(1)|kidney(1)|lung(4) 6 CATCGGCTCTCTGTGCTGCAG 0.647000 6 6 0 0 0.003080 0 0 LAMA2 3908 broad.mit.edu 37 6 129762062 129762062 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:129762062G>A uc021zfb.1 + 42 6292 c.6187G>A c.(6187-6189)Gat>Aat p.D2063N LAMA2_uc003qbn.3_Missense_Mutation_p.D2063N|LAMA2_uc003qbo.3_Missense_Mutation_p.D2063N NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 2063 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.L2062L(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCAGAACCTCGATGGCCTGAA 0.443000 4 21 0 0 0.010504 0 0 PNPLA5 150379 broad.mit.edu 37 22 44277535 44277535 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:44277535C>T uc003beg.3 - 7 1235 c.1102G>A c.(1102-1104)Gat>Aat p.D368N PNPLA5_uc003beh.3_Missense_Mutation_p.D254N|PNPLA5_uc021wqw.1_Missense_Mutation_p.D368N|PNPLA5_uc021wqx.1_Missense_Mutation_p.D254N|PNPLA5_uc011aqc.2_Missense_Mutation_p.D228N NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA. 368 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GCCGGCACATCGGGCAGCCAC 0.657000 10 8 0 0 0.006214 0 0 CNOT6 57472 broad.mit.edu 37 5 179996264 179996264 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:179996264C>T uc003mlx.3 + 9 1531 c.1182C>T c.(1180-1182)ctC>ctT p.L394L CNOT6_uc010jld.3_Silent_p.L394L|CNOT6_uc010jle.3_Silent_p.L389L NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA. 394 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|exonuclease activity|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CTCGCAACCTCAAATCCAGTG 0.378000 63 55 0 0 0.014410 0 0 IFT140 9742 broad.mit.edu 37 16 1573573 1573573 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:1573573G>A uc002cmb.3 - 25 3761 c.3399C>T c.(3397-3399)ttC>ttT p.F1133F IFT140_uc002clz.3_Silent_p.F746F NM_014714 NP_055529 Q96RY7 IF140_HUMAN Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA. 1133 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGTGCTCGATGAAGAAGTCGG 0.652000 13 14 0 0 0.003163 0 0 RFX1 5989 broad.mit.edu 37 19 14074027 14074027 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:14074027G>A uc002mxv.3 - 18 2903 c.2631C>T c.(2629-2631)ctC>ctT p.L877L NM_002918 NP_002909 P22670 RFX1_HUMAN Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA. 877 Necessary for dimerization. immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GCAGCCGGATGAGGTGGAAGG 0.667000 21 11 0 0 0.010729 0 0 PPP1R18 170954 broad.mit.edu 37 6 30652369 30652369 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:30652369G>A uc003nra.3 - 1 1658 c.1427C>T c.(1426-1428)cCc>cTc p.P476L PPP1R18_uc003nrb.4_Missense_Mutation_p.P476L NM_001134870 NP_597728 Q6NYC8 PHTNS_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA. 476 cytoplasm|cytoskeleton actin binding AGACCGCCGGGGGTTGACGGT 0.692000 6 11 0 0 0.013537 0 0 MYO16 23026 broad.mit.edu 37 13 109672187 109672187 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:109672187G>A uc010agk.2 + 22 3346 c.2724G>A c.(2722-2724)atG>atA p.M908I MYO16_uc001vqt.1_Missense_Mutation_p.M886I|MYO16_uc001vqu.1_Missense_Mutation_p.M686I|MYO16_uc010tjh.1_Missense_Mutation_p.M398I NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 886 Myosin head-like 2. cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACTCCCCCATGAAGGATGGGA 0.433000 47 26 0 0 0.006320 0 0 POFUT1 23509 broad.mit.edu 37 20 30803149 30803149 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:30803149C>T uc002wxp.3 + 2 373 c.324C>T c.(322-324)ttC>ttT p.F108F POFUT1_uc002wxo.3_Silent_p.F108F|POFUT1_uc010ztt.2_5'UTR|POFUT1_uc010ztu.2_Intron NM_015352 NP_056167 Q9H488 OFUT1_HUMAN Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA. 108 Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGGAGGATTTCATGGAGAAGC 0.577000 51 39 0 0 0.006999 0 0 EMB 133418 broad.mit.edu 37 5 49707186 49707186 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:49707186G>A uc003jom.3 - 2 477 c.228C>T c.(226-228)atC>atT p.I76I EMB_uc003jol.3_Silent_p.I7I|EMB_uc011cpy.2_Silent_p.I26I NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 76 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) TTTCTAAAGTGATATTTTTTT 0.333000 41 40 0 0 0.013114 0 0 SLC13A1 6561 broad.mit.edu 37 7 122811882 122811882 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:122811882C>T uc003vkm.3 - 2 330 c.305G>A c.(304-306)tGg>tAg p.W102* SLC13A1_uc010lks.3_5'UTR NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 102 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) GTGCAAATTCCATTTTTCTAT 0.378000 51 79 0 0 0.014410 0 0 RHO 6010 broad.mit.edu 37 3 129251558 129251558 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:129251558C>T uc003emt.3 + 3 974 c.879C>T c.(877-879)ttC>ttT p.F293F NM_000539 NP_000530 P08100 OPSD_HUMAN Homo sapiens rhodopsin (RHO), mRNA. 293 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCCCAGCGTTCTTTGCCAAGA 0.582000 33 30 0 0 0.012213 0 0 TCRA 0 broad.mit.edu 37 14 22362919 22362919 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:22362919G>A uc021rpj.1 + 1 221 c.50G>A c.(49-51)gGa>gAa p.G17E TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor; GTTGCAGGAGGAACCAGAGCC 0.483000 OREG0022572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 17 0 0 0.007413 0 0 DNAH9 1770 broad.mit.edu 37 17 11659961 11659961 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:11659961G>A uc002gne.3 + 33 6883 c.6815G>A c.(6814-6816)cGc>cAc p.R2272H DNAH9_uc010coo.3_Missense_Mutation_p.R1566H NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2272 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGCCACCTGCGCACAGCCACT 0.547000 64 66 0 0 0.014410 0 0 GHRHR 2692 broad.mit.edu 37 7 31014598 31014598 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:31014598G>A uc003tbx.3 + 8 873 c.825G>A c.(823-825)ctG>ctA p.L275L GHRHR_uc003tby.3_Silent_p.L211L|GHRHR_uc003tbz.3_Missense_Mutation_p.G42R NM_000823 NP_000814 Q02643 GHRHR_HUMAN Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. 275 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GCTGGGACCTGGACGACACCT 0.577000 OREG0017943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 118 36 0 0 0.009718 0 0 CA9 768 broad.mit.edu 37 9 35680799 35680799 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:35680799C>T uc003zxo.4 + 9 1329 c.1287C>T c.(1285-1287)gtC>gtT p.V429V NM_001216 NP_001207 Q16790 CAH9_HUMAN Homo sapiens carbonic anhydrase IX (CA9), mRNA. 429 one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCACCAGCGTCGCGTTCCTTG 0.552000 38 26 0 0 0.010818 0 0 EEF1D 1936 broad.mit.edu 37 8 144672304 144672304 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:144672304G>A uc003yyq.2 - 0 327 c.98C>T c.(97-99)cCc>cTc p.P33L EEF1D_uc003yyp.2_5'Flank|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Intron|EEF1D_uc003yyr.3_Intron|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CAACACAGCGGGTGGCCGCAG 0.677000 5 6 0 0 0.001168 0 0 DACH2 117154 broad.mit.edu 37 X 85969711 85969711 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:85969711C>T uc004eew.2 + 5 1262 c.1092C>T c.(1090-1092)acC>acT p.T364T DACH2_uc004eex.2_Silent_p.T351T|DACH2_uc010nmq.2_Silent_p.T230T|DACH2_uc011mra.1_Silent_p.T197T|DACH2_uc010nmr.2_Silent_p.T145T|DACH2_uc004eey.3_Silent_p.T47T|DACH2_uc004eez.3_Silent_p.T47T NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GAGCTGGTACCTCTGTTATAA 0.398000 34 33 0 0 0.013726 0 0 CRB1 23418 broad.mit.edu 37 1 197390648 197390648 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:197390648G>A uc001gtz.3 + 5 1899 c.1690G>A c.(1690-1692)Gat>Aat p.D564N CRB1_uc010poz.2_Missense_Mutation_p.D495N|CRB1_uc009wza.3_Missense_Mutation_p.D452N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D564N|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.D45N|CRB1_uc001gub.1_Missense_Mutation_p.D213N NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 564 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.D564D(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAACACCAGCGATGGAGAGTG 0.458000 9 231 0 0 0.014410 0 0 KCNH3 23416 broad.mit.edu 37 12 49942799 49942799 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:49942799G>A uc001ruh.1 + 7 1571 c.1311G>A c.(1309-1311)ggG>ggA p.G437G KCNH3_uc010smj.1_Silent_p.G377G NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 437 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGGCCAACGGGACGGGGCTGG 0.682000 15 9 0 0 0.008291 0 0 LTBP2 4053 broad.mit.edu 37 14 74975335 74975335 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:74975335G>A uc001xqa.3 - 23 4011 c.3624C>T c.(3622-3624)gtC>gtT p.V1208V NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1208 Cys-rich.|EGF-like 12; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCTCTGCGCTGACGAAGCCAG 0.627000 19 12 0 0 0.013537 0 0 MLL 4297 broad.mit.edu 37 11 118344107 118344107 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:118344107C>T uc001pta.3 + 2 2256 c.2233C>T c.(2233-2235)Cga>Tga p.R745* MLL_uc001ptb.3_Nonsense_Mutation_p.R745*|MLL_uc001psz.1_Nonsense_Mutation_p.R778*|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 745 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TAGTCCTATTCGATCTGAACC 0.438000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 3 43 0 0 0.013114 0 0 MALAT1 378938 broad.mit.edu 37 11 65273927 65273927 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:65273927G>A uc010roh.2 + 0 c.8695G>A Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA. TAATAAAAATGGAGAAGCTCT 0.363000 12 7 0 0 0.006214 0 0 ARL9 132946 broad.mit.edu 37 4 57389937 57389937 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:57389937G>A uc003hby.1 + 3 715 c.267G>A c.(265-267)aaG>aaA p.K89K NM_206919 NP_996802 Q6T311 ARL9_HUMAN Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA. 153 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) ATGACAGGAAGATGTTCTTGT 0.448000 18 30 0 0 0.009535 0 0 DENND3 22898 broad.mit.edu 37 8 142186849 142186849 + Missense_Mutation SNP G A A rs112917986 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:142186849G>A uc003yvy.3 + 14 2733 c.2455G>A c.(2455-2457)Gat>Aat p.D819N DENND3_uc010mep.3_Missense_Mutation_p.D780N NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 819 p.A818A(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GAAGCTGGCCGATGACCACAA 0.602000 34 30 0 0 0.010818 0 0 PDE1C 5137 broad.mit.edu 37 7 31912913 31912913 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:31912913G>A uc003tcm.2 - 5 1062 c.601C>T c.(601-603)Cgt>Tgt p.R201C PDE1C_uc003tcn.1_Missense_Mutation_p.R201C|PDE1C_uc003tco.2_Missense_Mutation_p.R261C|PDE1C_uc003tcr.3_Missense_Mutation_p.R201C|PDE1C_uc003tcs.3_Missense_Mutation_p.R201C NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 201 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) ACCTTGAAACGGCTGATCAGA 0.368000 32 52 0 0 0.014410 0 0 CDH13 1012 broad.mit.edu 37 16 83251023 83251023 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:83251023G>A uc010vns.2 + 5 962 c.698G>A c.(697-699)gGa>gAa p.G233E CDH13_uc002fgx.3_Missense_Mutation_p.G186E|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.G147E NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 186 Cadherin 1. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GAGCCTAAAGGAATTTTCAGA 0.478000 32 24 0 0 0.003330 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118389458 118389458 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:118389458G>A uc001lcq.3 + 7 605 c.582G>A c.(580-582)ctG>ctA p.L194L PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript NM_005396 NP_005387 P54317 LIPR2_HUMAN Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA. 194 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) TTTCAGGGCTGGATCCAGCAG 0.532000 4 6 0 0 0.001168 0 0 KLF8 11279 broad.mit.edu 37 X 56310850 56310850 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:56310850C>T uc004dur.3 + 5 1949 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W KLF8_uc011mop.2_3'UTR|KLF8_uc010nkh.3_Non-coding_Transcript NM_007250 NP_009181 O95600 KLF8_HUMAN Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA. 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(4)|large_intestine(6)|lung(5)|ovary(1) 16 CAAGCCTTTTCGGTGCACAGA 0.547000 19 15 0 0 0.004007 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139781650 139781650 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:139781650C>T uc003lfs.2 + 0 252 c.98C>T c.(97-99)cCg>cTg p.P33L ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P33L|BC030152_uc003lfn.3_5'Flank|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.P33L NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 33 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCGCCTCCGCCGGGAGGG 0.731000 8 8 0 0 0.008291 0 0 CSPG4 1464 broad.mit.edu 37 15 75977730 75977730 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:75977730G>A uc002baw.3 - 3 4195 c.4102C>T c.(4102-4104)Cct>Tct p.P1368S NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 1368 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCACCCTCAGGGACGCTGAAG 0.682000 8 5 0 0 0.000602 0 0 ANKS1B 56899 broad.mit.edu 37 12 99898353 99898353 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:99898353G>A uc001tge.2 - 9 1756 c.1339C>T c.(1339-1341)Cct>Tct p.P447S ANKS1B_uc001tgf.2_Missense_Mutation_p.P27S|ANKS1B_uc009ztt.1_Missense_Mutation_p.P413S NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 447 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTTCTGAAGGAAATGTATCC 0.388000 14 7 0 0 0.003080 0 0 COL1A2 1278 broad.mit.edu 37 7 94045765 94045765 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:94045765C>T uc003ung.1 + 30 2284 c.1813C>T c.(1813-1815)Cct>Tct p.P605S COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 605 Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCTACTGGTCCTATTGGAAG 0.502000 HNSCC(75;0.22) 4 9 0 0 0.008291 0 0 RP1 6101 broad.mit.edu 37 8 55542052 55542052 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:55542052C>T uc003xsd.1 + 3 5758 c.5610C>T c.(5608-5610)tcC>tcT p.S1870S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1870 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCACTCATTCCTTTATTTCTG 0.408000 30 22 0 0 0.014323 0 0 KCNAB1 7881 broad.mit.edu 37 3 156183475 156183475 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:156183475G>A uc003far.2 + 7 635 c.571_splice c.e7+1 p.G191_splice KCNAB1_uc011bon.1_Splice_Site_p.E191_splice|KCNAB1_uc003fas.2_Splice_Site_p.G180_splice|KCNAB1_uc003fat.2_Splice_Site_p.G173_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E173_splice|KCNAB1_uc011boo.1_Splice_Site_p.G67_splice NM_172160 NP_751892 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA. 191 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TATTATTGAAGGTGGGTACTT 0.378000 27 18 0 0 0.007413 0 0 KLF4 9314 broad.mit.edu 37 9 110249648 110249648 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:110249648G>T uc004bdh.3 - 2 1621 c.1000C>A c.(1000-1002)Cac>Aac p.H334N KLF4_uc004bdf.2_Missense_Mutation_p.H293N|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.H343N NM_004235 NP_004226 O43474 KLF4_HUMAN Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA. 343 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GGCCCCGGGTGGGGATGGAAG 0.652000 0 7 8.12818e-05 0.000109562 0.001984 1 0 PCDHB17 54661 broad.mit.edu 37 5 140536746 140536746 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140536746C>T uc003lis.3 + 0 1167 c.1167C>T c.(1165-1167)ctC>ctT p.L389L Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA. AAGACCATCTCCCTTTCCTTC 0.453000 7 8 0 0 0.003080 0 0 TPTE2 93492 broad.mit.edu 37 13 20000566 20000566 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:20000566G>A uc001umd.3 - 19 1606 c.1395_splice c.e19+1 p.S465_splice TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Splice_Site_p.S354_splice|TPTE2_uc001ume.3_Splice_Site_p.S388_splice|TPTE2_uc009zzm.3_Splice_Site_p.S136_splice|TPTE2_uc010tcm.2_Splice_Site|TPTE2_uc010tcl.2_Splice_Site_p.S136_splice NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 465 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATTACTCACCGAAGAGAAAAA 0.368000 86 11 0 0 0.004007 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452373 26452373 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:26452373C>T uc003nhz.3 + 10 1732 c.1489C>T c.(1489-1491)Cct>Tct p.P497S BTN3A3_uc011dkn.2_Missense_Mutation_p.P448S|BTN3A3_uc021ynh.1_Missense_Mutation_p.P287S NM_006994 NP_008925 O00478 BT3A3_HUMAN Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA. 497 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GCCTCTATATCCTGTTTTCAG 0.478000 106 51 0 0 0.014410 0 0 PLCE1 51196 broad.mit.edu 37 10 96064324 96064324 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:96064324G>A uc001kjk.3 + 24 6178 c.5544G>A c.(5542-5544)aaG>aaA p.K1848K PLCE1_uc010qnx.2_Silent_p.K1832K|PLCE1_uc001kjm.3_Silent_p.K1540K|PLCE1_uc001kjp.3_Silent_p.K206K NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 1848 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGTGGGACAAGAACTGCCCCA 0.413000 72 51 0 0 0.014410 0 0 FBLN5 10516 broad.mit.edu 37 14 92403312 92403312 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:92403312C>T uc010aue.3 - 4 954 c.481G>A c.(481-483)Gat>Aat p.D161N FBLN5_uc010aud.3_Missense_Mutation_p.D125N|FBLN5_uc001xzx.4_Missense_Mutation_p.D120N NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 120 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TTGCTTTCATCCATCTGGTAT 0.537000 49 47 0 0 0.014410 0 0 DMD 1756 broad.mit.edu 37 X 31645817 31645817 + Silent SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:31645817T>A uc004dda.1 - 54 8434 c.8190A>T c.(8188-8190)ggA>ggT p.G2730G DMD_uc004dcr.1_Silent_p.G270G|DMD_uc004dcs.1_Silent_p.G270G|DMD_uc004dct.1_Silent_p.G270G|DMD_uc004dcu.1_Silent_p.G270G|DMD_uc004dcv.1_Silent_p.G270G|DMD_uc004dcw.2_Silent_p.G1386G|DMD_uc004dcx.2_Silent_p.G1389G|DMD_uc004dcz.2_Silent_p.G2607G|DMD_uc004dcy.1_Silent_p.G2726G|DMD_uc004ddb.1_Silent_p.G2722G NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2730 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCTCTTTTACTCCCTTGGAGT 0.438000 24 9 0 0 0.010729 0 0 C8orf34 116328 broad.mit.edu 37 8 69351778 69351778 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:69351778C>T uc010lyz.3 + 1 663 c.372C>T c.(370-372)atC>atT p.I124I C8orf34_uc010lyx.2_Silent_p.I124I|C8orf34_uc010lyy.2_Silent_p.I124I|C8orf34_uc003xyb.3_Silent_p.I13I NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 38 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ACCAGCCAATCCCATTTCTCA 0.388000 28 18 0 0 0.014323 0 0 PPEF2 5470 broad.mit.edu 37 4 76782056 76782056 + Missense_Mutation SNP C T T rs138073376 by1000genomes TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:76782056C>T uc003hix.3 - 16 2383 c.2026G>A c.(2026-2028)Gag>Aag p.E676K PPEF2_uc003hiy.3_Non-coding_Transcript NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 676 EF-hand 2. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGCCTGAACTCGTCCAGTGAG 0.428000 43 30 0 0 0.003755 0 0 RXFP2 122042 broad.mit.edu 37 13 32376410 32376410 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:32376410G>A uc001utt.3 + 17 2204 c.2133G>A c.(2131-2133)agG>agA p.R711R RXFP2_uc010aba.3_Silent_p.R687R NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 711 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AACATCAGAGGAAATCAATTT 0.353000 60 48 0 0 0.014410 0 0 TNXB 7148 broad.mit.edu 37 6 32053851 32053851 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32053851G>A uc003nzl.2 - 6 3026 c.2824C>T c.(2824-2826)Ccc>Tcc p.P942S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1030 Fibronectin type-III 2. 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 GGGCCTGAGGGAGGAGGCTCA 0.627000 123 57 0 0 0.014410 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764816 109764816 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:109764816G>A uc004eos.1 + 0 c.1277G>A Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA. ATGGCCTTGTGATGGATGAGC 0.532000 25 21 0 0 0.012319 0 0 DMD 1756 broad.mit.edu 37 X 31645819 31645819 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:31645819C>T uc004dda.1 - 54 8432 c.8188G>A c.(8188-8190)Gga>Aga p.G2730R DMD_uc004dcr.1_Missense_Mutation_p.G270R|DMD_uc004dcs.1_Missense_Mutation_p.G270R|DMD_uc004dct.1_Missense_Mutation_p.G270R|DMD_uc004dcu.1_Missense_Mutation_p.G270R|DMD_uc004dcv.1_Missense_Mutation_p.G270R|DMD_uc004dcw.2_Missense_Mutation_p.G1386R|DMD_uc004dcx.2_Missense_Mutation_p.G1389R|DMD_uc004dcz.2_Missense_Mutation_p.G2607R|DMD_uc004dcy.1_Missense_Mutation_p.G2726R|DMD_uc004ddb.1_Missense_Mutation_p.G2722R NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2730 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTTTACTCCCTTGGAGTCT 0.443000 25 9 0 0 0.010729 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764796 138764796 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:138764796G>A uc003vun.3 - 3 1279 c.891C>T c.(889-891)ttC>ttT p.F297F ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.F297F NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. 297 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CCAGATACGTGAACTTGCGGG 0.597000 59 26 0 0 0.003330 0 0 UMODL1 89766 broad.mit.edu 37 21 43547300 43547300 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:43547300A>G uc002zag.1 + 17 3862 c.3862A>G c.(3862-3864)Acc>Gcc p.T1288A UMODL1_uc002zad.1_Missense_Mutation_p.T1088A|UMODL1_uc002zae.1_Missense_Mutation_p.T1216A|UMODL1_uc002zaf.1_Missense_Mutation_p.T1160A|UMODL1_uc002zal.1_Missense_Mutation_p.T110A|UMODL1_uc010gpa.1_5'Flank NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 1160 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GTGCTGGGCAACCCCGTCTAG 0.572000 19 27 0 0 0.003954 0 0 ARMC4 55130 broad.mit.edu 37 10 28284003 28284003 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28284003G>A uc009xky.3 - 1 167 c.69C>T c.(67-69)atC>atT p.I23I ARMC4_uc001itz.3_Silent_p.I23I NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 23 binding p.E22K(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTAGAGGGGTGATTTCGAGGA 0.448000 32 14 0 0 0.006122 0 0 SUN5 140732 broad.mit.edu 37 20 31577467 31577467 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:31577467C>T uc002wyi.3 - 8 665 c.572G>A c.(571-573)gGa>gAa p.G191E NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 191 spermatogenesis p.H190Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GATGTAATCTCCGTGTATCAT 0.488000 35 22 0 0 0.005443 0 0 DNAH5 1767 broad.mit.edu 37 5 13766175 13766175 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:13766175C>T uc003jfd.2 - 58 10053 c.10011G>A c.(10009-10011)gtG>gtA p.V3337V DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3337 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCAATTTTCACAGCACTGA 0.493000 Kartagener syndrome 64 36 0 0 0.004878 0 0 PRAMEF14 729528 broad.mit.edu 37 1 13669144 13669144 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:13669144C>T uc009vnw.1 - 3 1225 c.1042G>A c.(1042-1044)Gac>Aac p.D348N NM_001099854 NP_001093324 Q5SWL7 PRA14_HUMAN Homo sapiens PRAME family member 14 (PRAMEF14), mRNA. 348 large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACAACAGGTCCTTCAGGGCA 0.542000 73 54 0 0 0.014410 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085245 35085245 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:35085245G>A uc002nvn.3 - 1 103 c.81C>T c.(79-81)atC>atT p.I27I NM_001025591 NP_001020762 Q4G0G5 SCGBL_HUMAN Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA. 27 extracellular region binding GCAGTTTATCGATATCCAGGC 0.517000 32 39 0 0 0.010771 0 0 ALOX15B 247 broad.mit.edu 37 17 7948223 7948223 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:7948223C>T uc002gju.3 + 5 869 c.753C>T c.(751-753)atC>atT p.I251I ALOX15B_uc002gjv.3_Silent_p.I251I|ALOX15B_uc002gjw.3_Silent_p.I251I|ALOX15B_uc010vun.2_Silent_p.I251I|ALOX15B_uc010cnp.3_Silent_p.I57I NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 251 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.L250L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CTGTCCTGATCCGCCGCTGTC 0.607000 23 22 0 0 0.014323 0 0 ZNF474 133923 broad.mit.edu 37 5 121487967 121487967 + Silent SNP C T T rs144735279 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:121487967C>T uc003ksv.3 + 1 658 c.282C>T c.(280-282)ttC>ttT p.F94F ZNF474_uc021ycy.1_Silent_p.F94F NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN Homo sapiens zinc finger protein 474 (ZNF474), mRNA. 94 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) GGCCTGGATTCCGGGTATGCT 0.498000 54 58 0 0 0.014410 0 0 HPGD 3248 broad.mit.edu 37 4 175413236 175413236 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:175413236C>T uc003itu.2 - 6 862 c.672G>A c.(670-672)ttG>ttA p.L224L HPGD_uc003itv.2_Missense_Mutation_p.D170N|HPGD_uc011ckf.1_Silent_p.L103L|HPGD_uc010irq.2_Silent_p.*144*|HPGD_uc011ckg.1_Silent_p.L156L|HPGD_uc011ckh.1_Silent_p.L103L NM_000860 NP_000851 P15428 PGDH_HUMAN Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA. 224 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) CATTGGCAATCAATGGTGGGC 0.303000 106 78 0 0 0.014410 0 0 CD28 940 broad.mit.edu 37 2 204594400 204594400 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:204594400C>T uc002vah.4 + 2 661 c.439C>T c.(439-441)Ccc>Tcc p.P147S CD28_uc010zio.2_Missense_Mutation_p.P50S|CD28_uc010ftx.3_Missense_Mutation_p.P28S|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript NM_006139 NP_006130 P10747 CD28_HUMAN Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA. 147 T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane SH3/SH2 adaptor activity|coreceptor activity|protease binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 TCCCCTATTTCCCGGACCTTC 0.438000 57 50 0 0 0.014410 0 0 CUBN 8029 broad.mit.edu 37 10 16882450 16882450 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:16882450G>A uc001ioo.3 - 61 9963 c.9911C>T c.(9910-9912)tCc>tTc p.S3304F NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 3304 CUB 25. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGTACAGATGGAAAATGGGAC 0.473000 18 14 0 0 0.001855 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20222625 20222625 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:20222625G>A uc001umh.3 + 3 1383 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K MPHOSPH8_uc001umg.3_Missense_Mutation_p.E428K|MPHOSPH8_uc001umi.3_Missense_Mutation_p.E125K NM_017520 NP_059990 Q99549 MPP8_HUMAN Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA. 428 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) TTCTGACAAGGAAGAAAAAGG 0.318000 11 16 0 0 0.007413 0 0 UNC79 57578 broad.mit.edu 37 14 94007029 94007029 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94007029A>G uc001ybv.1 + 9 928 c.845A>G c.(844-846)cAt>cGt p.H282R UNC79_uc001ybs.1_Missense_Mutation_p.H282R|UNC79_uc001ybu.1_Missense_Mutation_p.H220R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 459 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCCGAGTTCCATGCTGAGCAG 0.488000 35 34 0 0 0.006999 0 0 C12orf42 374470 broad.mit.edu 37 12 103696160 103696160 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:103696160C>T uc001tjt.2 - 5 897 c.809G>A c.(808-810)gGa>gAa p.G270E C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.G270E|C12orf42_uc001tju.2_Missense_Mutation_p.G175E NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 270 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 GACGGGATTTCCGGACGCGCC 0.662000 28 19 0 0 0.014323 0 0 UBIAD1 29914 broad.mit.edu 37 1 11333829 11333829 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:11333829C>T uc001asg.3 + 0 575 c.241C>T c.(241-243)Ccc>Tcc p.P81S NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. 81 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) TGTCCTGGATCCCAGGCTCTT 0.597000 59 49 0 0 0.014410 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400782 49400782 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:49400782C>T uc001jgi.3 - 15 2441 c.2110G>A c.(2110-2112)Gat>Aat p.D704N FRMPD2_uc001jgh.3_Missense_Mutation_p.D672N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D673N NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 704 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.D704Y(2) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TTGAAGTTATCCATTGATGTA 0.522000 26 25 0 0 0.004656 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534707 16534707 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:16534707C>T uc001ayc.1 - 2 563 c.426G>A c.(424-426)cgG>cgA p.R142R ARHGEF19_uc009voo.1_5'Flank NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA. 142 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GCTGGTACACCCGCATCTTGC 0.682000 0 20 0 0 0.012319 0 0 METTL2A 339175 broad.mit.edu 37 17 60503709 60503709 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:60503709C>T uc002izv.2 + 2 270 c.252C>T c.(250-252)atC>atT p.I84I METTL2A_uc002izw.3_5'UTR NM_181725 NP_859076 Q96IZ6 MTL2A_HUMAN Homo sapiens methyltransferase like 2A (METTL2A), mRNA. 84 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) TCTACAAAATCCACGAAAATG 0.348000 19 14 0 0 0.003954 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2923809 2923809 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:2923809G>A uc010ckd.3 + 18 1761 c.1671G>A c.(1669-1671)cgG>cgA p.R557R RAP1GAP2_uc010cke.3_Silent_p.R542R NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 557 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 ACCAGTCACGGAGTCCCATCA 0.612000 7 16 0 0 0.004007 0 0 HSPG2 3339 broad.mit.edu 37 1 22168773 22168773 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:22168773G>A uc009vqd.3 - 67 9054 c.9014C>T c.(9013-9015)tCc>tTc p.S3005F HSPG2_uc001bfj.3_Missense_Mutation_p.S3004F NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 3004 Ig-like C2-type 15. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GACTGTGAAGGAGGCTTCTTG 0.652000 20 9 0 0 0.008291 0 0 EPB41L2 2037 broad.mit.edu 37 6 131199260 131199260 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:131199260G>A uc003qch.2 - 13 2209 c.2027C>T c.(2026-2028)tCc>tTc p.S676F EPB41L2_uc003qce.1_Missense_Mutation_p.S54F|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_Missense_Mutation_p.S21F NM_001431 NP_001422 O43491 E41L2_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA. 676 Spectrin--actin-binding. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGTCTGTAGGGACAGAGGTGT 0.423000 7 39 0 0 0.014410 0 0 CUBN 8029 broad.mit.edu 37 10 17152983 17152983 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:17152983G>A uc001ioo.3 - 8 1002 c.950C>T c.(949-951)tCt>tTt p.S317F NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 317 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGAGCCACAGAACAGCCGCC 0.493000 23 21 0 0 0.004656 0 0 MYO16 23026 broad.mit.edu 37 13 109707898 109707898 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:109707898G>A uc010agk.2 + 26 3912 c.3290G>A c.(3289-3291)cGa>cAa p.R1097Q MYO16_uc001vqt.1_Missense_Mutation_p.R1075Q|MYO16_uc001vqu.1_Missense_Mutation_p.R875Q|MYO16_uc010tjh.1_Missense_Mutation_p.R587Q NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1075 Myosin head-like 2. cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAGATCTTCCGATATGGATAC 0.438000 75 73 0 0 0.014410 0 0 MDC1 9656 broad.mit.edu 37 6 30670992 30670992 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:30670992A>G uc003nrg.4 - 11 6194 c.5754T>C c.(5752-5754)ggT>ggC p.G1918G MDC1_uc003nrf.4_Silent_p.G549G NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 1918 BRCT 1.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTGCCGCTGAACCAGCCAGAC 0.627000 Other conserved DNA damage response genes 45 15 0 0 0.002450 0 0 FAM83C 128876 broad.mit.edu 37 20 33874741 33874741 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:33874741G>A uc021wck.1 - 3 1959 c.1841C>T c.(1840-1842)tCc>tTc p.S614F EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.S269F NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 614 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCTGGCTGAGGAGTTGGTTTC 0.617000 31 21 0 0 0.014323 0 0 CSMD1 64478 broad.mit.edu 37 8 2808674 2808674 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:2808674G>A uc022aqr.1 - 65 10553 c.10163C>T c.(10162-10164)aCc>aTc p.T3388I CSMD1_uc011kwj.2_Missense_Mutation_p.T2703I|CSMD1_uc010lrg.3_Missense_Mutation_p.T1280I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3389 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) TTCGCTGAAGGTGGCATTCAC 0.453000 18 16 0 0 0.004007 0 0 NUP98 4928 broad.mit.edu 37 11 3781853 3781853 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:3781853G>A uc001lyh.3 - 9 1511 c.1090C>T c.(1090-1092)Ctg>Ttg p.L364L NUP98_uc001lyi.3_Silent_p.L364L|NUP98_uc001lyj.2_Silent_p.L364L|NUP98_uc001lyk.2_Silent_p.L364L NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 364 Gly/Thr-rich. DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TTGCCAAACAGGGTCTAAAAA 0.403000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 50 26 0 0 0.007291 0 0 C1orf168 199920 broad.mit.edu 37 1 57254736 57254736 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:57254736G>A uc001cym.4 - 2 1235 c.829C>T c.(829-831)Cct>Tct p.P277S C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P277S NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 277 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGGGGAGGAGGACCCAGGGAG 0.517000 4 61 0 0 0.014410 0 0 CACNA1D 776 broad.mit.edu 37 3 53783436 53783436 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:53783436C>T uc003dgv.4 + 26 3619 c.3456C>T c.(3454-3456)atC>atT p.I1152I CACNA1D_uc003dgu.4_Silent_p.I1172I|CACNA1D_uc003dgy.4_Silent_p.I1152I|CACNA1D_uc003dgw.4_Silent_p.I819I|CACNA1D_uc003dgx.1_Silent_p.I300I NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1152 Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCTTTGTCATCGTTACATTTC 0.418000 29 20 0 0 0.010504 0 0 DNAH7 56171 broad.mit.edu 37 2 196746611 196746611 + Nonsense_Mutation SNP G A A rs149212659 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:196746611G>A uc002utj.4 - 35 5970 c.5869C>T c.(5869-5871)Cga>Tga p.R1957* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1957 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R1957*(2) 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 GCAGAGTATCGAATTGTGTCC 0.378000 56 31 0 0 0.009535 0 0 CYP3A7 1551 broad.mit.edu 37 7 99273791 99273791 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:99273791T>C uc003urq.3 - 1 214 c.112A>G c.(112-114)Att>Gtt p.I38V ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Missense_Mutation_p.I28V|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.I38V NM_000777 NP_000768 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA. 38 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GGCCCTGGAATTCCCAGTCTC 0.453000 73 39 0 0 0.010771 0 0 TLL1 7092 broad.mit.edu 37 4 166916232 166916232 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:166916232C>T uc003irh.2 + 4 1181 c.534C>T c.(532-534)ttC>ttT p.F178F TLL1_uc021xud.1_Silent_p.F178F|TLL1_uc011cjn.2_Silent_p.F178F|TLL1_uc011cjo.2_Silent_p.F2F NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 178 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GAGCCATGTTCAAGCAGGCCA 0.453000 53 50 0 0 0.014410 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21319082 21319082 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:21319082C>T uc021tss.1 + 2 798 c.428C>T c.(427-429)aCc>aTc p.T143I KCNJ18_uc002gyv.1_Missense_Mutation_p.T143I|KCNJ18_uc021tst.1_Missense_Mutation_p.T143I NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 143 integral to membrane inward rectifier potassium channel activity ACGCAGACCACCATCGGCTAC 0.657000 31 5 0 0 0.003080 0 0 OR51D1 390038 broad.mit.edu 37 11 4661092 4661092 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4661092C>T uc010qyk.2 + 0 148 c.72C>T c.(70-72)ttC>ttT p.F24F NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCATACTTCCTTTTGGTGG 0.502000 60 49 0 0 0.014410 0 0 SORBS2 8470 broad.mit.edu 37 4 186545032 186545032 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:186545032G>A uc003iyg.3 - 12 1913 c.1881C>T c.(1879-1881)ttC>ttT p.F627F SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.F613F|SORBS2_uc003iyl.3_Silent_p.F513F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.F417F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 513 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCAGCTTTTCGAATTCGGAGA 0.572000 48 45 0 0 0.014410 0 0 SYNE1 23345 broad.mit.edu 37 6 152589264 152589264 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:152589264G>A uc021zhb.1 - 97 18965 c.18742C>T c.(18742-18744)Ctt>Ttt p.L6248F SYNE1_uc003qos.4_Missense_Mutation_p.L772F|SYNE1_uc003qot.4_Missense_Mutation_p.L6177F|SYNE1_uc003qou.4_Missense_Mutation_p.L6248F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6248 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) ACTGAGCGAAGGAGACTCTTC 0.443000 HNSCC(10;0.0054) 5 43 0 0 0.014410 0 0 ACBD5 91452 broad.mit.edu 37 10 27499923 27499923 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:27499923G>A uc001itr.1 - 8 1111 c.391C>T c.(391-393)Cgt>Tgt p.R131C ACBD5_uc010qdm.2_Missense_Mutation_p.R340C|ACBD5_uc010qdn.2_Missense_Mutation_p.R233C|ACBD5_uc010qdo.2_Missense_Mutation_p.R165C|ACBD5_uc010qdp.2_Missense_Mutation_p.R342C|ACBD5_uc001ito.3_Missense_Mutation_p.R307C|ACBD5_uc001itp.3_Missense_Mutation_p.R233C|ACBD5_uc001itq.3_Missense_Mutation_p.R233C Q5T8D3 ACBD5_HUMAN Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA. 351 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding p.R307C(1) breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 ATATCTTCACGAAATCCAGAA 0.418000 76 71 0 0 0.014410 0 0 CELSR3 1951 broad.mit.edu 37 3 48668507 48668507 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:48668507G>A uc003cuf.1 - 44 11268 c.11268C>T c.(11266-11268)atC>atT p.I3756I CELSR3_uc003cug.3_Silent_p.I330I|CELSR3_uc011bbp.2_Silent_p.I315I|CELSR3_uc010hke.3_Silent_p.I202I|CELSR3_uc003cuk.3_Silent_p.I244I|CELSR3_uc003cuh.3_Silent_p.I351I|CELSR3_uc003cui.3_Silent_p.I351I|CELSR3_uc003cuj.3_Silent_p.I351I NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 0 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAACCACAGCGATGGTGAAGG 0.612000 48 36 0 0 0.005524 0 0 FMR1NB 158521 broad.mit.edu 37 X 147088275 147088275 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:147088275C>T uc004fcm.3 + 2 525 c.451C>T c.(451-453)Ctt>Ttt p.L151F NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA. 151 P-type. integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GCTGCAAGATCTTAGTGAGAG 0.378000 146 69 0 0 0.014410 0 0 ARID2 196528 broad.mit.edu 37 12 46244715 46244715 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:46244715C>T uc001ros.1 + 14 2809 c.2809C>T c.(2809-2811)Caa>Taa p.Q937* ARID2_uc001ror.3_Nonsense_Mutation_p.Q937*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q393*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q564*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q271* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 937 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCAACAAGGTCAAACTTATGC 0.468000 """N, S, F""" hepatocellular carcinoma 72 52 0 0 0.014410 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531002 140531002 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140531002C>T uc003lir.3 + 0 1164 c.1164C>T c.(1162-1164)ccC>ccT p.P388P NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 388 Cadherin 4. 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) ACAATCTCCCCTTTCTACTAA 0.458000 55 36 0 0 0.008740 0 0 KRT31 3881 broad.mit.edu 37 17 39553606 39553606 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:39553606G>A uc002hwn.3 - 0 239 c.186C>T c.(184-186)ttC>ttT p.F62F KRT31_uc010cxn.3_Silent_p.F62F NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 62 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GGTCGTTCAGGAACTGCATAG 0.622000 63 44 0 0 0.014410 0 0 STAB1 23166 broad.mit.edu 37 3 52537381 52537381 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:52537381C>T uc003dej.3 + 7 790 c.716C>T c.(715-717)tCa>tTa p.S239L STAB1_uc003dei.1_Missense_Mutation_p.S239L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 239 EGF-like 4. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGCTGGCCATCACCCTGCTCA 0.652000 10 12 0 0 0.001855 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077305 45077305 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:45077305T>A uc003cok.4 + 2 594 c.498T>A c.(496-498)gaT>gaA p.D166E NM_003278 NP_003269 P05452 TETN_HUMAN Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA. 166 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCAACCCGATGGCGGCAAGA 0.657000 28 19 0 0 0.012319 0 0 SUSD1 64420 broad.mit.edu 37 9 114804188 114804188 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:114804188A>C uc010mui.3 - 16 2308 c.2267T>G c.(2266-2268)cTg>cGg p.L756R MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.A734A|SUSD1_uc010muj.3_Missense_Mutation_p.L721R Q6UWL2 SUSD1_HUMAN Homo sapiens sushi domain containing 1 (SUSD1), mRNA. 0 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TGATCACAACAGCCAGGGAAC 0.532000 0 14 0 0 0.003163 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830060 23830060 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:23830060C>T uc003gqs.3 - 4 840 c.720G>A c.(718-720)aaG>aaA p.K240K PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 240 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TGTGGGACTTCTTTTTGGAGG 0.498000 58 54 0 0 0.014410 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43862493 43862493 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:43862493C>T uc010skx.2 - 7 1133 c.1133G>A c.(1132-1134)gGt>gAt p.G378D NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 378 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACATATGGTACCTAAATATGA 0.313000 40 35 0 0 0.004878 0 0 SP2 6668 broad.mit.edu 37 17 45994184 45994184 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:45994184G>A uc002imk.3 + 2 884 c.747G>A c.(745-747)aaG>aaA p.K249K SP2_uc002iml.3_Silent_p.K242K|BC038442_uc002imm.3_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Homo sapiens Sp2 transcription factor (SP2), mRNA. 249 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 AAGCAAGGAAGAAGAGCCTTC 0.582000 43 49 0 0 0.014410 0 0 C1orf129 80133 broad.mit.edu 37 1 170941020 170941020 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:170941020G>A uc010plz.2 + 7 766 c.612G>A c.(610-612)caG>caA p.Q204Q C1orf129_uc001ghg.3_Silent_p.Q204Q|C1orf129_uc009wvy.3_Silent_p.Q11Q NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 204 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACGGTGTCAGAACGGTAAGA 0.433000 14 256 0 0 0.014410 0 0 NAT9 26151 broad.mit.edu 37 17 72769761 72769761 + Silent SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:72769761C>A uc002jlq.3 - 2 218 c.144G>T c.(142-144)ctG>ctT p.L48L NAT9_uc002jlr.3_Silent_p.L47L|TMEM104_uc010wrf.1_5'Flank|TMEM104_uc010wrg.1_5'Flank|TMEM104_uc002jls.4_5'Flank|TMEM104_uc010dfx.3_5'Flank NM_015654 NP_056469 Q9BTE0 NAT9_HUMAN Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA. 48 N-acetyltransferase. protein complex N-acetyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3) 8 ACTCCTGCTCCAGGGTCAGCG 0.607000 50 37 5.78141e-17 7.83625e-17 0.013114 1 0 TMCC1 23023 broad.mit.edu 37 3 129389208 129389208 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:129389208G>A uc021xdy.1 - 3 1910 c.1476C>T c.(1474-1476)tcC>tcT p.S492S TMCC1_uc003emy.4_Silent_p.S168S|TMCC1_uc011blc.2_Silent_p.S313S|TMCC1_uc010htg.3_Silent_p.S378S NM_001017395 NP_001121696 O94876 TMCC1_HUMAN Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA. 492 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCATTATTAAGGAATAGTCCC 0.433000 69 50 0 0 0.014410 0 0 ASPN 54829 broad.mit.edu 37 9 95227269 95227269 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:95227269C>T uc004ase.2 - 4 944 c.644G>A c.(643-645)gGg>gAg p.G215E CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Missense_Mutation_p.G215E NM_017680 NP_060150 Q9BXN1 ASPN_HUMAN Homo sapiens asporin (ASPN), transcript variant 1, mRNA. 215 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 TTCAAATGCCCCTGGCTCTAT 0.398000 9 83 0 0 0.014410 0 0 INTS1 26173 broad.mit.edu 37 7 1513981 1513981 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:1513981G>A uc003skn.2 - 40 5753 c.5652C>T c.(5650-5652)atC>atT p.I1884I NM_001080453 NP_001073922 Q8N201 INT1_HUMAN Homo sapiens integrator complex subunit 1 (INTS1), mRNA. 1884 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGAGCGCCGCGATCATGGGCA 0.726000 33 16 0 0 0.004990 0 0 ODZ2 57451 broad.mit.edu 37 5 167617455 167617455 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:167617455G>A uc010jjd.3 + 13 2656 c.2656G>A c.(2656-2658)Gat>Aat p.D886N ODZ2_uc003lzr.4_Missense_Mutation_p.D663N|ODZ2_uc003lzt.4_Missense_Mutation_p.D259N|ODZ2_uc010jje.3_Missense_Mutation_p.D157N NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GGGCCAGACGGATTGGCCCGC 0.572000 11 11 0 0 0.002450 0 0 S100A8 6279 broad.mit.edu 37 1 153362683 153362684 + Missense_Mutation DNP TA GC GC TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:153362683_153362684TA>GC uc001fbs.3 - 2 347_348 c.177_178TA>GC c.(175-180)gatatc>gaGCtc p.59_60DI>EL NM_002964 NP_002955 P05109 S10A8_HUMAN Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA. 59 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCAGTGTTGATATCCAACTCTT 0.460000 182 44 0 0 0.004672 0 0 GRAMD2 196996 broad.mit.edu 37 15 72456035 72456035 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:72456035G>A uc002atq.3 - 8 688 c.664C>T c.(664-666)Cca>Tca p.P222S GRAMD2_uc010bis.2_Missense_Mutation_p.P222S|GRAMD2_uc010ukh.2_Missense_Mutation_p.P16S NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 222 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 ATGTTGTCTGGGAGAGACAGG 0.537000 20 14 0 0 0.003163 0 0 SLC6A14 11254 broad.mit.edu 37 X 115584228 115584228 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:115584228C>T uc004eqi.3 + 8 1337 c.1206C>T c.(1204-1206)ctC>ctT p.L402L NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 402 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TAGCCCAACTCCCAGGTGGTC 0.358000 38 39 0 0 0.007835 0 0 MATN2 4147 broad.mit.edu 37 8 99019805 99019805 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:99019805C>T uc003yic.3 + 9 1780 c.1549C>T c.(1549-1551)Cgc>Tgc p.R517C MATN2_uc010mbh.1_Missense_Mutation_p.R476C|MATN2_uc003yid.3_Missense_Mutation_p.R517C|MATN2_uc003yie.1_Missense_Mutation_p.R517C|MATN2_uc010mbi.1_Missense_Mutation_p.R350C NM_002380 NP_002371 O00339 MATN2_HUMAN Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA. 517 EGF-like 7. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) ACACGTGCTCCGCAGCGATGG 0.567000 37 28 0 0 0.005443 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433197 72433197 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:72433197C>T uc004ebi.3 - 0 1514 c.1132G>A c.(1132-1134)Gga>Aga p.G378R NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 378 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) GAGGTGATTCCATGAGGAGAG 0.353000 24 25 0 0 0.003330 0 0 HMG20A 10363 broad.mit.edu 37 15 77763375 77763375 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:77763375C>T uc002bcr.3 + 5 775 c.574C>T c.(574-576)Cat>Tat p.H192Y HMG20A_uc002bcs.3_Missense_Mutation_p.H192Y NM_018200 NP_060670 Q9NP66 HM20A_HUMAN Homo sapiens high mobility group 20A (HMG20A), mRNA. 192 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 AGGCAAATCTCATAGGCAAGG 0.408000 34 37 0 0 0.011902 0 0 C20orf166 128826 broad.mit.edu 37 20 61167705 61167705 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:61167705G>A uc011aaj.2 + 3 954 c.175G>A c.(175-177)Gaa>Aaa p.E59K NM_178463 NP_848558 Q9H1L0 CT166_HUMAN Homo sapiens chromosome 20 open reading frame 166 (C20orf166), mRNA. 59 endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) TCATTTGAAAGAAATTCTTCT 0.478000 20 12 0 0 0.013537 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984888 51984888 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:51984888G>A uc002pwv.1 + 3 825 c.825G>A c.(823-825)caG>caA p.Q275Q NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 275 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGATCTTTCAGAGAAGTGAAC 0.522000 20 16 0 0 0.006122 0 0 OR52N4 390072 broad.mit.edu 37 11 5776411 5776411 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5776411G>A uc001mbu.3 + 0 489 c.441G>A c.(439-441)ggG>ggA p.G147G TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CAAAGGTTGGGACTGCCACCT 0.493000 53 51 0 0 0.014410 0 0 IPO7 10527 broad.mit.edu 37 11 9446716 9446716 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:9446716T>C uc001mho.3 + 11 1384 c.1242T>C c.(1240-1242)ttT>ttC p.F414F NM_006391 NP_006382 O95373 IPO7_HUMAN Homo sapiens importin 7 (IPO7), mRNA. 414 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction Ran GTPase binding|protein transporter activity|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) CTATGGGATTTTGTTACCAGA 0.358000 56 38 0 0 0.007835 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713174 70713174 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:70713174C>T uc010ttg.2 - 0 1345 c.694G>A c.(694-696)Gaa>Aaa p.E232K Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. ATAAAGATTTCCCCCAATCTT 0.458000 36 38 0 0 0.006999 0 0 SCN1A 6323 broad.mit.edu 37 2 166894574 166894574 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:166894574G>A uc002udo.4 - 16 2885 c.2658C>T c.(2656-2658)tcC>tcT p.S886S SCN1A_uc010fpk.3_Silent_p.S858S|SCN1A_uc021vsb.1_Silent_p.S875S NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 886 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GAGCCCCCACGGAATTGCCGA 0.408000 42 31 0 0 0.007291 0 0 MYH15 22989 broad.mit.edu 37 3 108159925 108159925 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:108159925G>A uc003dxa.1 - 23 2955 c.2898C>T c.(2896-2898)atC>atT p.I966I NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 966 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCAGGTCATCGATTTCTTTCT 0.458000 79 70 0 0 0.014410 0 0 BOLL 66037 broad.mit.edu 37 2 198640447 198640447 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:198640447A>G uc002uuu.1 - 4 691 c.312T>C c.(310-312)taT>taC p.Y104Y BOLL_uc002uur.2_Silent_p.Y104Y|BOLL_uc002uus.2_Silent_p.Y98Y|BOLL_uc002uut.2_Silent_p.Y110Y|BOLL_uc010zha.1_Intron NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA. 98 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm RNA binding|nucleotide binding|protein binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 TCTTATCCTTATAATTAAGTT 0.249000 46 31 0 0 0.004289 0 0 FBXL13 222235 broad.mit.edu 37 7 102608513 102608513 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:102608513G>A uc003vaq.2 - 6 974 c.547C>T c.(547-549)Cat>Tat p.H183Y FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.H183Y|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.H183Y|FBXL13_uc003vav.2_Non-coding_Transcript NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 183 F-box. NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 ATCCAGGCATGATTAACTTGA 0.328000 29 40 0 0 0.011902 0 0 FCRLA 84824 broad.mit.edu 37 1 161683039 161683039 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:161683039C>T uc001gbe.3 + 5 1260 c.1018C>T c.(1018-1020)Ctg>Ttg p.L340L FCRLA_uc001gbg.3_Silent_p.L194L|FCRLA_uc009wup.3_Silent_p.L150L|FCRLA_uc009wuq.3_Silent_p.L99L|FCRLA_uc001gbd.3_Silent_p.L334L|FCRLA_uc001gbf.3_Silent_p.L245L|FCRLA_uc009wuo.3_Silent_p.L200L NM_001184866 NP_001171795 Q7L513 FCRLA_HUMAN Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA. 317 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) AGATCCTCATCTGTATCACCA 0.567000 3 114 0 0 0.014410 0 0 LIPC 3990 broad.mit.edu 37 15 58855711 58855711 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:58855711G>A uc010bga.2 + 9 1785 c.1177G>A c.(1177-1179)Gga>Aga p.G393R LIPC_uc010bfz.1_Missense_Mutation_p.G393R|LIPC_uc002afa.2_Missense_Mutation_p.G393R|LIPC_uc010bgb.1_Missense_Mutation_p.G291R|LIPC_uc010ugy.2_Missense_Mutation_p.G332R NM_000236 NP_000227 P11150 LIPC_HUMAN Homo sapiens lipase, hepatic (LIPC), mRNA. 393 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AAGGGGCAAAGGAATTGCTAG 0.418000 18 14 0 0 0.004007 0 0 GPR63 81491 broad.mit.edu 37 6 97246852 97246852 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:97246852G>A uc010kcl.3 - 2 1234 c.756C>T c.(754-756)ttC>ttT p.F252F GPR63_uc003pou.3_Silent_p.F252F|GPR63_uc021zcy.1_Silent_p.F252F NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA. 252 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GGAAGGGTATGAAGAAAGAAA 0.463000 0 35 0 0 0.005524 0 0 LTN1 26046 broad.mit.edu 37 21 30365209 30365209 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:30365209G>A uc002ymr.2 - 0 69 c.56C>T c.(55-57)tCt>tTt p.S19F NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGCGGCGGAAGAGGACACCCT 0.632000 5 9 0 0 0.004482 0 0 GPR112 139378 broad.mit.edu 37 X 135480048 135480048 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:135480048C>T uc004ezu.1 + 19 8484 c.8193C>T c.(8191-8193)tcC>tcT p.S2731S GPR112_uc010nsb.1_Silent_p.S2526S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2731 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGGATTTATCCAGGTCTACAG 0.418000 155 72 0 0 0.014410 0 0 WDR96 80217 broad.mit.edu 37 10 105926332 105926332 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:105926332C>T uc001kxw.3 - 22 3069 c.2953G>A c.(2953-2955)Gat>Aat p.D985N WDR96_uc009xxq.3_Missense_Mutation_p.D293N NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 985 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACCCCAAAATCAGTACTCAGA 0.373000 28 35 0 0 0.003755 0 0 FAM135B 51059 broad.mit.edu 37 8 139164633 139164633 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:139164633G>A uc003yuy.3 - 12 2256 c.2085C>T c.(2083-2085)gtC>gtT p.V695V FAM135B_uc003yux.3_Silent_p.V596V|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.V257V|FAM135B_uc003yvb.3_Silent_p.V257V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 695 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGACCAGGCGACGGAGCTTG 0.552000 HNSCC(54;0.14) 30 20 0 0 0.007413 0 0 C10orf71 118461 broad.mit.edu 37 10 50531107 50531107 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:50531107C>T uc021pqb.1 + 0 517 c.517C>T c.(517-519)Cct>Tct p.P173S C10orf71_uc021pqa.1_Missense_Mutation_p.P172S|C10orf71_uc021pqc.1_Missense_Mutation_p.P173S NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 173 endometrium(1) 1 TCTGAAAAATCCTCCCAAATT 0.502000 23 18 0 0 0.004990 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32905036 32905036 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32905036G>A uc003ocl.2 - 2 798 c.535C>T c.(535-537)Cat>Tat p.H179Y HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_Missense_Mutation_p.H48Y|HLA-DMB_uc010jue.2_Missense_Mutation_p.H48Y|HLA-DMB_uc010juf.2_Missense_Mutation_p.H48Y|HLA-DMB_uc003ocj.2_3'UTR|HLA-DMB_uc011dql.2_Missense_Mutation_p.H179Y NM_002118 NP_002109 P28068 DMB_HUMAN Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA. 179 Beta-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 AAGGCTAAATGGGAGAGGGTC 0.562000 50 31 0 0 0.009535 0 0 MERTK 10461 broad.mit.edu 37 2 112777019 112777019 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:112777019C>T uc002thk.1 + 15 2231 c.2109C>T c.(2107-2109)ttC>ttT p.F703F MERTK_uc002thl.1_Silent_p.F527F NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 703 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TATTGAAGTTCATGGTGGATA 0.423000 73 80 0 0 0.014410 0 0 HNF4G 3174 broad.mit.edu 37 8 76465357 76465357 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:76465357G>A uc003yaq.3 + 5 699 c.429G>A c.(427-429)atG>atA p.M143I HNF4G_uc003yar.3_Missense_Mutation_p.M180I NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 143 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GTGAATCTATGAAACAGCAGC 0.368000 45 38 0 0 0.005524 0 0 ZNF624 57547 broad.mit.edu 37 17 16526300 16526300 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:16526300G>A uc010cpi.2 - 5 1992 c.1900C>T c.(1900-1902)Cat>Tat p.H634Y ZNF624_uc021tre.1_Missense_Mutation_p.H508Y NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN Homo sapiens zinc finger protein 624 (ZNF624), mRNA. 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ACTCCAGTATGAATTTTCTGA 0.388000 96 62 0 0 0.014410 0 0 ABLIM2 84448 broad.mit.edu 37 4 7994616 7994616 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:7994616C>T uc003gko.3 - 15 1698 c.1555G>A c.(1555-1557)Gga>Aga p.G519R ABLIM2_uc003gkk.3_Intron|ABLIM2_uc003gkl.3_Missense_Mutation_p.G247R|ABLIM2_uc003gkm.4_Missense_Mutation_p.G467R|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Intron|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Missense_Mutation_p.G553R NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 519 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CCATTCTTTCCATGTCCTGGG 0.562000 18 7 0 0 0.003080 0 0 ZNF157 7712 broad.mit.edu 37 X 47272621 47272621 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:47272621G>A uc004dhr.1 + 3 1218 c.1149G>A c.(1147-1149)gaG>gaA p.E383E NM_003446 NP_003437 P51786 ZN157_HUMAN Homo sapiens zinc finger protein 157 (ZNF157), mRNA. 383 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G382*(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 ACACAGGAGAGAAACCTTACG 0.428000 9 8 0 0 0.006214 0 0 DLG2 1740 broad.mit.edu 37 11 84996306 84996306 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:84996306G>A uc001pak.2 - 3 456 c.144C>T c.(142-144)tcC>tcT p.S48S NM_001142699 NP_001136171 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA. 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GAGCAAGAAGGGATGTCTTCT 0.373000 3 61 0 0 0.014410 0 0 FRAS1 80144 broad.mit.edu 37 4 79295332 79295332 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:79295332C>T uc003hlb.2 + 24 3518 c.3078C>T c.(3076-3078)ctC>ctT p.L1026L FRAS1_uc003hkw.3_Silent_p.L1026L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1025 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GGCCATTTCTCCTCTTGGAAG 0.493000 53 55 0 0 0.014410 0 0 HSD11B2 3291 broad.mit.edu 37 16 67470517 67470517 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:67470517G>A uc002etd.3 + 4 945 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_000196 NP_000187 P80365 DHI2_HUMAN Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA. 277 glucocorticoid biosynthetic process endoplasmic reticulum|microsome breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) GGGTCAGTGGGAAAAGCGCAA 0.567000 19 17 0 0 0.006122 0 0 MUC17 140453 broad.mit.edu 37 7 100681578 100681578 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:100681578C>T uc003uxp.1 + 2 6934 c.6881C>T c.(6880-6882)tCt>tTt p.S2294F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2294 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTGGCCAATTCTGAGGTTAGC 0.488000 137 234 0 0 0.014410 0 0 GDPD5 81544 broad.mit.edu 37 11 75152259 75152259 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:75152259G>A uc001owo.4 - 14 1959 c.1422C>T c.(1420-1422)acC>acT p.T474T GDPD5_uc001owp.4_Silent_p.T474T|GDPD5_uc001own.4_Silent_p.T229T|GDPD5_uc009yuc.3_Silent_p.T336T|GDPD5_uc009yud.3_Silent_p.T355T NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 474 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity p.V473I(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 AGTTGTCAGAGGTGACGGATG 0.642000 19 7 0 0 0.001984 0 0 HCN4 10021 broad.mit.edu 37 15 73635981 73635981 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:73635981G>A uc002avp.3 - 1 1948 c.954C>T c.(952-954)atC>atT p.I318I NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 318 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CCTCCACCACGATCCCTGTGC 0.493000 15 14 0 0 0.002450 0 0 CCDC141 285025 broad.mit.edu 37 2 179732790 179732790 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179732790G>A uc002une.2 - 15 2655 c.2537C>T c.(2536-2538)tCc>tTc p.S846F CCDC141_uc002unf.1_Missense_Mutation_p.S325F NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 271 Ig-like. protein binding p.S846F(1)|p.S271F(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GACTCCTAAGGAAAGGGCCAG 0.512000 29 31 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179554265 179554265 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179554265C>T uc021vsy.1 - 119 28397 c.28172G>A c.(28171-28173)aGa>aAa p.R9391K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6052K|TTN_uc010fre.1_Missense_Mutation_p.R502K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10318 Ig-like 77. 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) AGATTCCTCTCTTTGAGTTAC 0.358000 14 8 0 0 0.008291 0 0 DPF3 8110 broad.mit.edu 37 14 73198523 73198523 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:73198523C>T uc001xnc.2 - 3 434 c.421G>A c.(421-423)Gaa>Aaa p.E141K DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.E141K|DPF3_uc010ttq.1_Missense_Mutation_p.E151K NM_012074 NP_036206 Q92784 DPF3_HUMAN Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA. 141 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding p.I141V(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACCTGTATTTCCTGGATGCTT 0.592000 4 9 0 0 0.008291 0 0 NF1 4763 broad.mit.edu 37 17 29592318 29592318 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:29592318C>T uc002hgg.3 + 35 5179 c.4796C>T c.(4795-4797)tCc>tTc p.S1599F NF1_uc002hgh.3_Missense_Mutation_p.S1578F|NF1_uc002hgi.1_Missense_Mutation_p.S611F|NF1_uc010cso.3_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1599 CRAL-TRIO. MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.T1598fs*26(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCTGGGACTTCCAAAGCTGGG 0.313000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 32 31 0 0 0.006999 0 0 DRGX 644168 broad.mit.edu 37 10 50594888 50594888 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:50594888C>T uc010qgq.2 - 3 266 c.266G>A c.(265-267)aGa>aAa p.R89K DRGX_uc021pqd.1_Missense_Mutation_p.R84K NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 89 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 TTTGGCCCTTCTGTTCTGGAA 0.547000 97 93 0 0 0.014410 0 0 AK300121 0 broad.mit.edu 37 12 52648149 52648149 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52648149C>T uc010snr.1 - 4 484 c.136_splice c.e4-1 p.D46_splice KRT86_uc010snq.2_Intron SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3; AGTCCACATCCTAAAGGGGAG 0.562000 18 15 0 0 0.004007 0 0 SETD1A 9739 broad.mit.edu 37 16 30976205 30976205 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:30976205C>T uc002ead.1 + 6 1828 c.1142C>T c.(1141-1143)tCc>tTc p.S381F NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CGCCATACTTCCTACCCACCA 0.557000 119 77 0 0 0.014410 0 0 CDHR5 53841 broad.mit.edu 37 11 618892 618892 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:618892C>T uc001lql.3 - 12 1934 c.1667G>A c.(1666-1668)gGa>gAa p.G556E IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.G556E|CDHR5_uc009ycd.3_Missense_Mutation_p.G550E|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.G390E NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 556 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGTGCTGGTTCCCACACCGGG 0.652000 42 41 0 0 0.013114 0 0 TGM3 7053 broad.mit.edu 37 20 2291059 2291059 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:2291059G>A uc002wfx.4 + 2 514 c.417G>A c.(415-417)ctG>ctA p.L139L NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 139 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACCCCTGGCTGAATGGTAGGT 0.512000 83 83 0 0 0.014410 0 0 TTYH2 94015 broad.mit.edu 37 17 72249960 72249960 + Silent SNP C T T rs144976577 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:72249960C>T uc002jkc.3 + 12 1543 c.1512C>T c.(1510-1512)tcC>tcT p.S504S TTYH2_uc010wqw.2_Silent_p.S483S|TTYH2_uc002jkd.3_Silent_p.S183S NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA. 504 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 GGAGAGCCTCCCCTCCGCCTA 0.562000 29 24 0 0 0.006320 0 0 B3GALTL 145173 broad.mit.edu 37 13 31850896 31850896 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:31850896C>T uc010aaz.3 + 9 948 c.838C>T c.(838-840)Cat>Tat p.H280Y B3GALTL_uc001utn.4_Non-coding_Transcript NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA. 280 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CAAGAAATTTCATGGTGACAG 0.313000 30 34 0 0 0.003755 0 0 ZNF423 23090 broad.mit.edu 37 16 49672585 49672585 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:49672585G>A uc002efs.3 - 4 776 c.478C>T c.(478-480)Cac>Tac p.H160Y ZNF423_uc010vgn.2_Missense_Mutation_p.H43Y NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 160 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TTGTCGCTGTGGATCTGCTCG 0.597000 27 22 0 0 0.003330 0 0 ABCA11P 79963 broad.mit.edu 37 4 436612 436612 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:436612C>T uc003gaf.4 - 2 1966 c.1740G>A c.(1738-1740)agG>agA p.R580R ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Silent_p.R548R|ABCA11P_uc010ibe.3_Silent_p.R536R NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TATGAATTCTCCTATGTACAT 0.408000 74 58 0 0 0.014410 0 0 THSD7A 221981 broad.mit.edu 37 7 11485733 11485733 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:11485733C>T uc021zzo.1 - 12 3271 c.3019G>A c.(3019-3021)Gat>Aat p.D1007N THSD7A_uc021zzn.1_Missense_Mutation_p.D1007N NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 1007 TSP type-1 10. integral to membrane p.Y1006Y(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCATTTTGATCGTAGCATGCC 0.423000 HNSCC(18;0.044) 194 73 0 0 0.014410 0 0 TACC2 10579 broad.mit.edu 37 10 123842253 123842254 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:123842253_123842254CC>TT uc001lfv.3 + 3 598_599 c.238_239CC>TT c.(238-240)cca>TTa p.P80L TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P80L|TACC2_uc010qtv.2_Missense_Mutation_p.P80L NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 80 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGTGACTGAGCCAAGGAAGGAC 0.609000 42 34 0 0 0.004672 0 0 THOC6 79228 broad.mit.edu 37 16 3077227 3077227 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3077227C>T uc002ctb.2 + 10 1052 c.756C>T c.(754-756)acC>acT p.T252T HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.T252T|THOC6_uc002cta.2_Silent_p.T228T NM_024339 NP_077315 Q86W42 THOC6_HUMAN Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA. 252 RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 CCACACCCACCACCATCTTCC 0.637000 34 26 0 0 0.005443 0 0 ZNF527 84503 broad.mit.edu 37 19 37870132 37870132 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:37870132G>C uc010efk.1 + 2 255 c.144G>C c.(142-144)agG>agC p.R48S ZNF527_uc002ogf.3_Missense_Mutation_p.R48S|ZNF527_uc010xtq.1_Non-coding_Transcript|ZNF527_uc002oge.3_Missense_Mutation_p.R48S NM_032453 NP_115829 Q8NB42 ZN527_HUMAN Homo sapiens zinc finger protein 527 (ZNF527), mRNA. 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAACTACAGGAACTTGGTAT 0.428000 46 35 0 0 0.014410 0 0 CARKD 55739 broad.mit.edu 37 13 111277558 111277558 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:111277558T>C uc001vrc.3 + 3 410 c.319T>C c.(319-321)Ttc>Ctc p.F107L CARKD_uc010tji.2_Intron|CARKD_uc010tjj.2_Missense_Mutation_p.F89L|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Intron|CARKD_uc010tjk.2_Intron|CARKD_uc010tjl.2_Intron|CARKD_uc001vrb.3_Missense_Mutation_p.F107L NM_018210 NP_060680 Q8IW45 CARKD_HUMAN Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA. 107 YjeF C-terminal. NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 GTCCCACGTGTTCTGTGCCAG 0.642000 25 16 0 0 0.006122 0 0 CA4 762 broad.mit.edu 37 17 58235480 58235480 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:58235480C>T uc002iym.4 + 5 666 c.572C>T c.(571-573)cCc>cTc p.P191L CA4_uc010wou.2_Non-coding_Transcript NM_000717 NP_000708 P22748 CAH4_HUMAN Homo sapiens carbonic anhydrase IV (CA4), mRNA. 191 bicarbonate transport|one-carbon metabolic process ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TCTAATATCCCCAAACCTGGT 0.612000 12 11 0 0 0.003163 0 0 FREM1 158326 broad.mit.edu 37 9 14859410 14859410 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:14859410G>A uc003zlm.3 - 4 1218 c.402C>T c.(400-402)atC>atT p.I134I FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 134 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCATATGGATGATGTTACAGT 0.408000 95 64 0 0 0.014410 0 0 KIAA1217 56243 broad.mit.edu 37 10 24809118 24809118 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:24809118G>A uc001iru.4 + 10 2647 c.2244G>A c.(2242-2244)ctG>ctA p.L748L KIAA1217_uc001irs.3_Silent_p.L668L|KIAA1217_uc001irt.4_Silent_p.L713L|KIAA1217_uc010qcy.2_Silent_p.L713L|KIAA1217_uc010qcz.2_Silent_p.L713L|KIAA1217_uc001irv.1_Silent_p.L563L|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.L431L|KIAA1217_uc001irz.3_Silent_p.L431L|KIAA1217_uc001irx.3_Silent_p.L431L|KIAA1217_uc001iry.3_Silent_p.L431L NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 748 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TGGTTACTCTGAAAGACGTGG 0.552000 92 75 0 0 0.014410 0 0 NUP160 23279 broad.mit.edu 37 11 47833673 47833673 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:47833673G>A uc001ngm.3 - 16 2269 c.2184C>T c.(2182-2184)ttC>ttT p.F728F NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.F728F NM_015231 NP_056046 Q12769 NU160_HUMAN Homo sapiens nucleoporin 160kDa (NUP160), mRNA. 728 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol nucleocytoplasmic transporter activity|protein binding p.R727C(1) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TGCAGATCAGGAAACGAGTAC 0.418000 20 17 0 0 0.006122 0 0 SPANXC 64663 broad.mit.edu 37 X 140335767 140335767 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140335767C>T uc004fbk.3 - 1 233 c.177G>A c.(175-177)gtG>gtA p.V59V SPANXC_uc004fbl.3_Non-coding_Transcript NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN Homo sapiens SPANX family, member C (SPANXC), mRNA. 59 V -> F.|V -> L (in dbSNP:rs16993705). cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) ATGTTCTTTTCACGTTCCTCC 0.498000 251 188 0 0 0.014410 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103086451 103086451 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:103086451C>T uc001phn.1 + 55 8839 c.8695_splice c.e55-1 p.A2899_splice DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.A2899_splice NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 2899 Stalk (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTGATGTAGGCTGGTGTATCT 0.328000 0 8 0 0 0.008291 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560773 32560773 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:32560773C>T uc001wrl.3 + 1 1137 c.898C>T c.(898-900)Cat>Tat p.H300Y ARHGAP5_uc001wrm.3_Missense_Mutation_p.H300Y|ARHGAP5_uc001wrn.3_Missense_Mutation_p.H300Y|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 300 FF 1. Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.H300Y(2) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATTAAAAAATCATCCTGATTA 0.313000 87 49 0 0 0.014410 0 0 CEP112 201134 broad.mit.edu 37 17 63847922 63847922 + Splice_Site SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:63847922C>A uc002jfl.3 - 21 2613 c.2394_splice c.e21+1 p.K798_splice CEP112_uc010deo.3_Splice_Site_p.K540_splice|CEP112_uc002jfm.3_Splice_Site_p.K798_splice|CEP112_uc010dep.2_Splice_Site_p.K756_splice NM_145036 NP_659473 Q8N8E3 CE112_HUMAN Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA. 798 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 AATATCTTACCTTTTCCAGTG 0.353000 68 44 4.10826e-27 5.58655e-27 0.014410 1 0 CILP2 148113 broad.mit.edu 37 19 19655605 19655605 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:19655605C>T uc002nmw.4 + 7 2354 c.2269C>T c.(2269-2271)Ccc>Tcc p.P757S CILP2_uc002nmv.4_Missense_Mutation_p.P751S NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 751 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 CAAGTTCACCCCCAGCGAGCA 0.687000 14 5 0 0 0.001168 0 0 LAMB2 3913 broad.mit.edu 37 3 49162711 49162711 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:49162711G>A uc003cwe.3 - 18 2994 c.2695C>T c.(2695-2697)Cac>Tac p.H899Y LAMB2_uc003cwf.1_Missense_Mutation_p.H899Y NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 899 Laminin EGF-like 8. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCCCTGTGTGATCACGGCAG 0.592000 87 60 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10078597 10078597 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:10078597C>T uc002mmq.1 - 60 4473 c.4387G>A c.(4387-4389)Ggc>Agc p.G1463S NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1463 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCTTTTGAGCCTTTCTGTCCT 0.587000 47 35 0 0 0.004878 0 0 SKOR1 390598 broad.mit.edu 37 15 68125544 68125544 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:68125544G>A uc002aqy.1 + 8 2620 c.2620G>A c.(2620-2622)Gaa>Aaa p.E874K NM_001031807 NP_001026977 P84550 SKOR1_HUMAN Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA. 918 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus SMAD binding|nucleotide binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CCTGTGTAACGAACTCGACCA 0.622000 24 18 0 0 0.010504 0 0 ZNF44 51710 broad.mit.edu 37 19 12385791 12385791 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:12385791G>A uc010xmj.2 - 3 537 c.332C>T c.(331-333)cCa>cTa p.P111L ZNF44_uc002mtl.3_Non-coding_Transcript|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.P63L NM_001164276 NP_001157748 P15621 ZNF44_HUMAN Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA. 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAATTACCTTGGATTTCTCCT 0.343000 19 13 0 0 0.004007 0 0 ZBTB41 360023 broad.mit.edu 37 1 197159928 197159928 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:197159928G>A uc001gtx.1 - 2 1431 c.1362C>T c.(1360-1362)tcC>tcT p.S454S ZBTB41_uc009wyz.1_Non-coding_Transcript NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA. 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 TCTTCTTAATGGAAATAAATT 0.279000 0 29 0 0 0.012213 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884573 228884573 + Missense_Mutation SNP C T T rs148914025 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:228884573C>T uc002vpq.2 - 6 1044 c.997G>A c.(997-999)Gaa>Aaa p.E333K SPHKAP_uc002vpp.2_Missense_Mutation_p.E333K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E333K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 333 cytoplasm protein binding p.E333K(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTGATTTTTCCATTTGACCT 0.428000 77 45 0 0 0.009718 0 0 ZNF273 10793 broad.mit.edu 37 7 64389038 64389038 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:64389038C>T uc003tto.3 + 3 1408 c.1332C>T c.(1330-1332)acC>acT p.T444T ZNF273_uc003ttl.3_Silent_p.T379T|ZNF273_uc003ttn.3_Silent_p.T379T NM_021148 NP_066971 Q14593 ZN273_HUMAN Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA. 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TATTCTCAACCCTTACTAAAC 0.348000 50 23 0 0 0.002780 0 0 MAPK14 1432 broad.mit.edu 37 6 36043686 36043686 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:36043686G>A uc003olq.3 + 6 1038 c.557G>A c.(556-558)aGg>aAg p.R186K MAPK14_uc011dth.2_Missense_Mutation_p.R186K|MAPK14_uc003olo.3_Missense_Mutation_p.R186K|MAPK14_uc003olp.3_Missense_Mutation_p.R186K|MAPK14_uc003olr.3_Missense_Mutation_p.R186K|MAPK14_uc011dti.2_Missense_Mutation_p.R109K NM_139012 NP_620581 Q16539 MK14_HUMAN Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA. 186 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 GTGGCCACTAGGTGGTACAGG 0.463000 66 26 0 0 0.010818 0 0 DNAJA2 10294 broad.mit.edu 37 16 46991110 46991110 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:46991110G>A uc002eeo.2 - 8 1212 c.1070C>T c.(1069-1071)tCt>tTt p.S357F NM_005880 NP_005871 O60884 DNJA2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA. 357 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) TTCCGGTCTAGATGGCAGAAG 0.413000 114 110 0 0 0.014410 0 0 PNMA3 29944 broad.mit.edu 37 X 152226667 152226667 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:152226667G>A uc022cho.1 + 0 1255 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K PNMA3_uc004fhc.2_Missense_Mutation_p.E419K|PNMA3_uc004fhd.3_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA. 419 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) TAGCTGTGGGGAAGACGGCCA 0.582000 97 57 0 0 0.014410 0 0 ZFX 7543 broad.mit.edu 37 X 24226484 24226484 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:24226484T>C uc011mjv.2 + 7 1456 c.1207T>C c.(1207-1209)Tat>Cat p.Y403H ZFX_uc004dbd.2_Missense_Mutation_p.Y364H|ZFX_uc004dbf.3_Missense_Mutation_p.Y364H|ZFX_uc004dbe.3_Missense_Mutation_p.Y364H|ZFX_uc022bua.1_Missense_Mutation_p.Y364H|ZFX_uc010nfx.2_Missense_Mutation_p.Y135H|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_Missense_Mutation_p.Y67H NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 GGCAGCAGCTTATGGTAAGTT 0.483000 41 28 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9047536 9047536 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9047536G>A uc002mkp.3 - 4 34299 c.34095C>T c.(34093-34095)acC>acT p.T11365T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11367 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 AATAATTAGGGGTTGTCCTGG 0.493000 100 79 0 0 0.014410 0 0 ZNF711 7552 broad.mit.edu 37 X 84526400 84526400 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:84526400C>T uc004eeq.3 + 9 2876 c.1990C>T c.(1990-1992)Cct>Tct p.P664S ZNF711_uc004eep.3_Missense_Mutation_p.P618S|ZNF711_uc004eeo.3_Missense_Mutation_p.P618S|ZNF711_uc011mqy.1_Missense_Mutation_p.P217S NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 618 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TAAGGATTTTCCTCACAAATG 0.423000 16 13 0 0 0.001855 0 0 PLEK 5341 broad.mit.edu 37 2 68621295 68621295 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:68621295G>A uc002sen.4 + 7 1065 c.903G>A c.(901-903)gaG>gaA p.E301E PLEK_uc010fde.3_3'UTR NM_002664 NP_002655 P08567 PLEK_HUMAN Homo sapiens pleckstrin (PLEK), mRNA. 301 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CTTCAGTGGAGAGCAACTCAA 0.468000 47 36 0 0 0.006230 0 0 ABCA8 10351 broad.mit.edu 37 17 66902247 66902247 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:66902247G>A uc002jhq.3 - 18 2676 c.2336C>T c.(2335-2337)tCc>tTc p.S779F ABCA8_uc002jhp.3_Missense_Mutation_p.S739F|ABCA8_uc010wqq.2_Missense_Mutation_p.S779F|ABCA8_uc010wqr.2_Missense_Mutation_p.S718F|ABCA8_uc002jhr.3_Missense_Mutation_p.S779F NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 739 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AGTTGTCATGGAAACACCATA 0.308000 65 57 0 0 0.014410 0 0 FAT2 2196 broad.mit.edu 37 5 150923472 150923472 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:150923472G>A uc003lue.4 - 8 7229 c.7216C>T c.(7216-7218)Cct>Tct p.P2406S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2406 Cadherin 21. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGCTGTCAGGGTCAATAGCC 0.478000 35 23 0 0 0.002780 0 0 SLC26A11 284129 broad.mit.edu 37 17 78201712 78201712 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:78201712C>T uc002jyb.2 + 6 995 c.689C>T c.(688-690)cCc>cTc p.P230L SLC26A11_uc002jyc.2_Missense_Mutation_p.P230L|SLC26A11_uc002jyd.2_Missense_Mutation_p.P230L|SLC26A11_uc010dhv.2_Missense_Mutation_p.P230L NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 230 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCCGAGATGCCCCCTGGTGTG 0.662000 18 12 0 0 0.001855 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41065475 41065475 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:41065475C>T uc003jmj.4 - 3 809 c.319G>A c.(319-321)Gaa>Aaa p.E107K HEATR7B2_uc021xxt.1_Missense_Mutation_p.E107K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 107 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 ACAACGAATTCATCTGGTAGC 0.418000 13 12 0 0 0.013537 0 0 RFTN1 23180 broad.mit.edu 37 3 16450977 16450977 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:16450977C>T uc003cay.3 - 3 628 c.346G>A c.(346-348)Gat>Aat p.D116N RFTN1_uc010hes.3_Missense_Mutation_p.D80N NM_015150 NP_055965 Q14699 RFTN1_HUMAN Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA. 116 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 TTGTGAAGATCAGTTTTCTGA 0.423000 26 17 0 0 0.006122 0 0 TCRVA15 0 broad.mit.edu 37 14 22205179 22205179 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:22205179C>T uc001wbp.2 + 1 292 c.243C>T c.(241-243)atC>atT p.I81I TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript SubName: Full=Tcell alpha chain; Flags: Fragment; CCCTGTTTATCCCTGCCGACA 0.498000 12 13 0 0 0.002450 0 0 SPON1 10418 broad.mit.edu 37 11 14284316 14284316 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:14284316G>A uc001mle.3 + 15 2320 c.2052G>A c.(2050-2052)ggG>ggA p.G684G NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 685 TSP type-1 5. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGTCATGTGGGAAAGGCCACG 0.532000 11 16 0 0 0.003163 0 0 MYBPC1 4604 broad.mit.edu 37 12 102025435 102025435 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:102025435G>A uc001tii.3 + 4 441 c.301G>A c.(301-303)Gac>Aac p.D101N MYBPC1_uc001tif.2_Missense_Mutation_p.D114N|MYBPC1_uc001tig.3_Missense_Mutation_p.D126N|MYBPC1_uc010svr.2_Missense_Mutation_p.D101N|MYBPC1_uc010svs.2_Missense_Mutation_p.D101N|MYBPC1_uc001tij.3_Missense_Mutation_p.D101N|MYBPC1_uc010svt.2_Missense_Mutation_p.D89N|MYBPC1_uc010svu.2_Missense_Mutation_p.D101N|MYBPC1_uc001tik.3_Missense_Mutation_p.D75N|MYBPC1_uc001tih.3_Missense_Mutation_p.D126N|MYBPC1_uc010svq.2_Missense_Mutation_p.D88N NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 101 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 AAAATGGATGGACCTGGCCAG 0.498000 53 36 0 0 0.004289 0 0 CPEB2 132864 broad.mit.edu 37 4 15063816 15063816 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:15063816C>T uc003gnk.2 + 10 2809 c.2809C>T c.(2809-2811)Cag>Tag p.Q937* CPEB2_uc003gnl.2_Nonsense_Mutation_p.Q910*|CPEB2_uc003gnm.2_Nonsense_Mutation_p.Q907*|CPEB2_uc003gni.2_Nonsense_Mutation_p.Q929*|CPEB2_uc003gnn.2_Nonsense_Mutation_p.Q902*|CPEB2_uc003gnj.2_Nonsense_Mutation_p.Q899* NM_001177382 NP_001170853 Q7Z5Q1 CPEB2_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA. 492 regulation of translation cytoplasm RNA binding|nucleotide binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 TTTCTCCAATCAGCAGAGCTA 0.438000 67 50 0 0 0.014410 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452703 102452703 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:102452703C>T uc001yks.2 + 7 2305 c.2141C>T c.(2140-2142)tCg>tTg p.S714L NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 714 Interaction with DYNC1LI2 (By similarity).|Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CTCGGTGTCTCGGGGCGCATT 0.512000 17 27 0 0 0.007291 0 0 OR8H1 219469 broad.mit.edu 37 11 56057790 56057790 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:56057790A>T uc010rje.2 - 0 749 c.749T>A c.(748-750)tTt>tAt p.F250Y NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGTTCCATAAAAGATGGTGAC 0.363000 24 30 0 0 0.006320 0 0 SYMPK 8189 broad.mit.edu 37 19 46330784 46330784 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:46330784G>A uc002pdn.3 - 15 2410 c.2165C>T c.(2164-2166)tCc>tTc p.S722F SYMPK_uc002pdo.1_Missense_Mutation_p.S722F|SYMPK_uc002pdp.1_Missense_Mutation_p.S722F NM_004819 NP_004810 Q92797 SYMPK_HUMAN Homo sapiens symplekin (SYMPK), mRNA. 722 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CTTCTCATGGGAGCTGAGGTC 0.597000 13 20 0 0 0.008871 0 0 PTK7 5754 broad.mit.edu 37 6 43111199 43111199 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:43111199C>T uc011dve.1 + 13 2158 c.2116C>T c.(2116-2118)Ccc>Tcc p.P706S PTK7_uc003oub.1_Missense_Mutation_p.P698S|PTK7_uc003ouc.1_Missense_Mutation_p.P642S|PTK7_uc003oud.1_Missense_Mutation_p.P658S|PTK7_uc003oue.1_Missense_Mutation_p.P568S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 698 actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGCCCTCCCCCCTACAAGAT 0.602000 OREG0017450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 28 0 0 0.009535 0 0 UNC5B 219699 broad.mit.edu 37 10 73055576 73055576 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:73055576G>A uc001jro.3 + 13 2635 c.2184G>A c.(2182-2184)ctG>ctA p.L728L UNC5B_uc001jrp.3_Silent_p.L717L NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 728 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 AGGAGGTGCTGGAGCTGGAGC 0.642000 6 15 0 0 0.003163 0 0 OCLN 100506658 broad.mit.edu 37 5 70378606 70378606 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:70378606G>A uc011cru.1 - 1 238 c.170C>T c.(169-171)tCa>tTa p.S57L NAIP_uc003kat.1_Intron NM_001205255 NP_001192184 Q16625 OCLN_HUMAN Homo sapiens occludin (OCLN), transcript variant 3, mRNA. 0 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GTCGGTACCTGATCCAGTCCT 0.507000 2 21 0 0 0.005443 0 0 C9orf174 100499483 broad.mit.edu 37 9 100092936 100092936 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:100092936G>A uc011lut.2 + 31 3716 c.2710G>A c.(2710-2712)Gag>Aag p.E904K C9orf174_uc004axe.2_Missense_Mutation_p.E904K|C9orf174_uc011lus.2_Missense_Mutation_p.E722K|C9orf174_uc004axg.2_Missense_Mutation_p.E765K|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.E765K|C9orf174_uc011luv.1_Missense_Mutation_p.E762K NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 904 Glu-rich. integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 AGAAAagaaggaggagtcaga 0.502000 1 6 0 0 0.001984 0 0 BNC1 646 broad.mit.edu 37 15 83933330 83933330 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:83933330C>T uc002bjt.1 - 3 761 c.673G>A c.(673-675)Gga>Aga p.G225R BNC1_uc010uos.1_Missense_Mutation_p.G213R NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 225 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CTGGGGTTTCCTTTGTCCACA 0.493000 41 29 0 0 0.008361 0 0 abParts 0 broad.mit.edu 37 14 106725137 106725137 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:106725137C>T uc021ser.1 - 928 c.22341G>A Parts of antibodies, mostly variable regions. CCGCTGATTTCCCCCCCATCG 0.587000 45 26 0 0 0.003330 0 0 ADD2 119 broad.mit.edu 37 2 70923465 70923465 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:70923465C>T uc021vjc.1 - 4 651 c.386G>A c.(385-387)gGg>gAg p.G129E ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.G129E|ADD2_uc002sgz.3_Missense_Mutation_p.G129E|ADD2_uc010fdt.2_Missense_Mutation_p.G129E|ADD2_uc002shc.2_Missense_Mutation_p.G129E|ADD2_uc010fdu.2_Missense_Mutation_p.G145E NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 129 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GAGCCGCTCCCCTTTGGCCAG 0.592000 11 13 0 0 0.002450 0 0 DNAH17 8632 broad.mit.edu 37 17 76423048 76423048 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:76423048C>T uc010dhp.2 - 77 12855 c.12730G>A c.(12730-12732)Gaa>Aaa p.E4244K DNAH17_uc002jvq.3_Missense_Mutation_p.E529K|DNAH17_uc002jvs.3_Non-coding_Transcript 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) CGGCGCATTTCGTTGGTCAGG 0.542000 8 5 0 0 0.001168 0 0 TEKT1 83659 broad.mit.edu 37 17 6716195 6716195 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:6716195C>T uc002gdt.3 - 5 917 c.807G>A c.(805-807)aaG>aaA p.K269K TEKT1_uc010vth.2_Silent_p.K123K NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 269 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CCTTTGTATCCTTCAGCCCAT 0.532000 70 65 0 0 0.014410 0 0 EPHA2 1969 broad.mit.edu 37 1 16474942 16474942 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:16474942C>T uc001aya.2 - 2 909 c.754G>A c.(754-756)Gag>Aag p.E252K EPHA2_uc010oca.2_Missense_Mutation_p.E252K NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 252 Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACCAGCCACTCGCCATCCACT 0.652000 3 58 0 0 0.014410 0 0 PLCL2 23228 broad.mit.edu 37 3 17053137 17053137 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:17053137C>T uc011awc.2 + 2 2371 c.2275C>T c.(2275-2277)Ccc>Tcc p.P759S PLCL2_uc011awd.2_Missense_Mutation_p.P641S NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 767 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCAGAACTTTCCCAAGCCCAA 0.468000 7 14 0 0 0.004990 0 0 CHL1 10752 broad.mit.edu 37 3 391158 391158 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:391158G>A uc003bot.3 + 9 1607 c.965G>A c.(964-966)gGa>gAa p.G322E CHL1_uc003bou.3_Missense_Mutation_p.G306E|CHL1_uc003bow.2_Missense_Mutation_p.G306E|CHL1_uc011asi.2_Missense_Mutation_p.G322E NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 306 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAGGACAAAGGAAATTATCGC 0.413000 59 40 0 0 0.010771 0 0 KIAA1274 27143 broad.mit.edu 37 10 72324221 72324221 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:72324221C>T uc001jrd.4 + 18 2645 c.2364C>T c.(2362-2364)ctC>ctT p.L788L KIAA1274_uc001jre.4_Silent_p.L79L NM_014431 NP_055246 Q9ULE6 PALD_HUMAN Homo sapiens KIAA1274 (KIAA1274), mRNA. 788 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1) 36 ACGCGTACCTCCACCTGGAGA 0.642000 55 43 0 0 0.014410 0 0 EGFLAM 133584 broad.mit.edu 37 5 38352305 38352305 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:38352305C>T uc003jlc.2 + 4 763 c.417C>T c.(415-417)tgC>tgT p.C139C EGFLAM_uc003jlb.2_Silent_p.C139C NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 139 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TAGATTCCTGCCTGCCTCCTG 0.562000 62 37 0 0 0.011902 0 0 HK3 3101 broad.mit.edu 37 5 176314234 176314234 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:176314234G>A uc003mfa.3 - 11 1797 c.1705C>T c.(1705-1707)Ccc>Tcc p.P569S HK3_uc003mez.3_Missense_Mutation_p.P125S NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 569 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) ACAGTCTCGGGAATGGAGTAG 0.617000 27 8 0 0 0.003080 0 0 ARHGAP6 395 broad.mit.edu 37 X 11215113 11215113 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:11215113C>T uc004cup.1 - 2 1625 c.752G>A c.(751-753)gGa>gAa p.G251E ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.G251E|ARHGAP6_uc004cum.1_Missense_Mutation_p.G48E|ARHGAP6_uc004cun.1_Missense_Mutation_p.G71E|ARHGAP6_uc010neb.1_Missense_Mutation_p.G73E|ARHGAP6_uc011mif.1_Missense_Mutation_p.G48E NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 251 Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly actin filament|cytosol Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TCTCTTTTGTCCATCTGTAAA 0.299000 13 11 0 0 0.008291 0 0 NUP214 8021 broad.mit.edu 37 9 134073006 134073006 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:134073006T>C uc004cag.3 + 28 4236 c.4125T>C c.(4123-4125)acT>acC p.T1375T NUP214_uc004cah.3_Silent_p.T1365T|NUP214_uc004cai.3_Silent_p.T805T|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.T201T|NUP214_uc011mcf.1_Silent_p.T152T|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1375 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TTAATTTTACTGCCCCCCCGG 0.542000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 43 0 0 0.014410 0 0 DKK3 27122 broad.mit.edu 37 11 11987475 11987475 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:11987475C>T uc010rcg.1 - 6 869 c.711G>A c.(709-711)gaG>gaA p.E237E DKK3_uc010rcf.2_Silent_p.E209E|DKK3_uc001mju.3_Silent_p.E237E|DKK3_uc001mjv.3_Silent_p.E237E|DKK3_uc001mjw.3_Silent_p.E237E NM_015881 NP_056965 Q9UBP4 DKK3_HUMAN Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA. 237 DKK-type Cys-2. Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) AAAGCTCGCCCTCCACGGGCA 0.652000 13 11 0 0 0.010729 0 0 SPHK2 56848 broad.mit.edu 37 19 49129386 49129386 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:49129386C>T uc002pjw.3 + 0 1161 c.464C>T c.(463-465)cCg>cTg p.P155L SPHK2_uc010xzt.2_Missense_Mutation_p.P34L|SPHK2_uc002pjt.3_Intron|SPHK2_uc002pjr.3_Missense_Mutation_p.P93L|SPHK2_uc002pjs.3_Missense_Mutation_p.P93L|SPHK2_uc002pju.3_Missense_Mutation_p.P57L|SPHK2_uc002pjv.3_Missense_Mutation_p.P57L|SPHK2_uc010xzu.1_Missense_Mutation_p.P57L NM_001204160 NP_001191089 Q9NRA0 SPHK2_HUMAN Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA. 93 Required for binding to sulfatide and phosphoinositides and for membrane localization. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGCCTGGTCCCGTTGGCCGAG 0.697000 13 10 0 0 0.008291 0 0 PLCD1 5333 broad.mit.edu 37 3 38051222 38051222 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:38051222G>A uc003chm.3 - 8 1785 c.1431C>T c.(1429-1431)gcC>gcT p.A477A PLCD1_uc003chn.3_Silent_p.A456A NM_001130964 NP_001124436 P51178 PLCD1_HUMAN Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA. 456 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R476C(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) ACACCACAGTGGCCTCAGGGC 0.637000 14 16 0 0 0.007413 0 0 RNF213 57674 broad.mit.edu 37 17 78327409 78327410 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:78327409_78327410GG>AA uc002jyh.2 + 34 10811_10812 c.10668_10669GG>AA c.(10666-10671)atggaa>atAAaa p.3556_3557ME>IK RNF213_uc021uen.1_Missense_Mutation_p.3507_3508ME>IK|LOC100294362_uc002jyi.2_3'UTR NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGAGGCCATGGAAACAGAAAG 0.584000 23 21 0 0 0.004672 0 0 OR51B6 390058 broad.mit.edu 37 11 5372815 5372815 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5372815C>T uc010qzb.2 + 0 78 c.78C>T c.(76-78)ttC>ttT p.F26F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGGATATTCATCCCATTAT 0.468000 21 31 0 0 0.012213 0 0 BPIFA2 140683 broad.mit.edu 37 20 31763300 31763300 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:31763300G>A uc002wyo.1 + 4 569 c.498G>A c.(496-498)caG>caA p.Q166Q NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA. 166 extracellular region lipid binding AGACACACCAGCCTGTTGCCG 0.527000 80 57 0 0 0.014410 0 0 ZNF502 91392 broad.mit.edu 37 3 44763128 44763129 + Missense_Mutation DNP GA CG CG TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:44763128_44763129GA>CG uc011baa.2 + 3 1074_1075 c.819_820GA>CG c.(817-822)gggaag>ggCGag p.K274E ZNF502_uc003cns.3_Missense_Mutation_p.K274E|ZNF502_uc011bab.2_Missense_Mutation_p.K274E|ZNF502_uc003cnt.3_Missense_Mutation_p.K274E NM_001134440 NP_149987 Q8TBZ5 ZN502_HUMAN Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA. 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ATAGGTGTGGGAAGGCATTCAA 0.406000 111 86 0 0 0.004672 0 0 DPP8 54878 broad.mit.edu 37 15 65772729 65772729 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:65772729G>A uc002aov.3 - 9 2753 c.1175C>T c.(1174-1176)tCc>tTc p.S392F DPP8_uc002aow.3_Missense_Mutation_p.S392F|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.S376F|DPP8_uc002aox.3_Missense_Mutation_p.S376F|DPP8_uc002aoy.3_Missense_Mutation_p.S392F|DPP8_uc002aoz.3_Missense_Mutation_p.S376F|DPP8_uc010bhj.3_Missense_Mutation_p.S392F|DPP8_uc010bhk.1_Intron NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA. 392 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity p.I391I(1) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TAGTAGGATGGACCAAGCACT 0.373000 18 10 0 0 0.006214 0 0 BCAT2 587 broad.mit.edu 37 19 49309780 49309780 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:49309780G>A uc010emh.2 - 2 350 c.294C>T c.(292-294)tcC>tcT p.S98S BCAT2_uc002pkq.4_Silent_p.S58S|BCAT2_uc002pks.3_Silent_p.S58S|BCAT2_uc002pkr.3_Silent_p.S98S|BCAT2_uc002pkt.3_Intron|BCAT2_uc010emi.2_Intron|BCAT2_uc002pku.1_Silent_p.S58S|BCAT2_uc010emj.2_Non-coding_Transcript NM_001190 NP_001181 O15382 BCAT2_HUMAN Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA. 98 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) CCACCTGCAGGGAGTAGTGGA 0.607000 33 28 0 0 0.009535 0 0 GPCPD1 56261 broad.mit.edu 37 20 5545699 5545700 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:5545699_5545700GG>AA uc002wme.4 - 14 1505_1506 c.1292_1293CC>TT c.(1291-1293)tcc>tTT p.S431F GPCPD1_uc002wmd.4_Missense_Mutation_p.S250F NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA. 431 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TTTCTGAAAAGGAATTTTCCTC 0.322000 87 44 0 0 0.004672 0 0 NLRP4 147945 broad.mit.edu 37 19 56390161 56390161 + Splice_Site SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56390161T>C uc002qmd.4 + 9 3119 c.2697_splice c.e9-1 p.G899_splice NLRP4_uc002qmf.3_Splice_Site_p.G824_splice|NLRP4_uc010etf.3_Splice_Site_p.G674_splice NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 899 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTATTGCAGGTTGGAAGAATG 0.532000 9 6 0 0 0.001168 0 0 GDPGP1 390637 broad.mit.edu 37 15 90785030 90785030 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:90785030C>G uc002bpc.3 + 3 1069 c.890C>G c.(889-891)cCg>cGg p.P297R GDPGP1_uc021suh.1_Missense_Mutation_p.P297R NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA. 297 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity GGAGCTCCGCCGGGAAAGACA 0.527000 37 28 0 0 0.005443 0 0 GLRA2 2742 broad.mit.edu 37 X 14708921 14708921 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:14708921C>T uc010neq.3 + 7 1780 c.1020C>T c.(1018-1020)ttC>ttT p.F340F GLRA2_uc004cwe.4_Silent_p.F340F|GLRA2_uc011mio.2_Silent_p.F251F|GLRA2_uc010nep.3_Silent_p.F340F|GLRA2_uc011mip.2_Silent_p.F318F NM_002063 NP_002054 P23416 GLRA2_HUMAN Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA. 340 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) CGGTGAACTTCGTCTCCAGGC 0.498000 51 51 0 0 0.014410 0 0 PYDC2 152138 broad.mit.edu 37 3 191179053 191179053 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:191179053C>T uc011bso.2 + 0 102 c.102C>T c.(100-102)tcC>tcT p.S34S NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN Homo sapiens pyrin domain containing 2 (PYDC2), mRNA. 34 DAPIN. cytoplasm|nucleus p.I33I(1) breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 GAACAATCTCCCTGGGAAAGG 0.532000 69 39 0 0 0.006999 0 0 KAT2A 2648 broad.mit.edu 37 17 40271693 40271693 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:40271693G>A uc002hyx.2 - 4 803 c.743C>T c.(742-744)cCc>cTc p.P248L NM_021078 NP_066564 Q92830 KAT2A_HUMAN Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA. 248 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CCGCTCCCGGGGAGCCAGGTG 0.557000 10 15 0 0 0.006122 0 0 SYCP2L 221711 broad.mit.edu 37 6 10898272 10898272 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:10898272G>A uc003mzo.3 + 4 661 c.365G>A c.(364-366)gGa>gAa p.G122E SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.3_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 122 nucleus p.G122E(2) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AGAACAACAGGAATTCTGACC 0.418000 60 20 0 0 0.014323 0 0 X06774 0 broad.mit.edu 37 7 38374786 38374786 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:38374786G>A uc010kxk.1 - 1 c.331C>T Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA. GGAGTAGTAGGGGTCATAGTA 0.438000 21 7 0 0 0.003080 0 0 WDFY3 23001 broad.mit.edu 37 4 85663060 85663060 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:85663060G>A uc003hpd.3 - 37 6496 c.6088C>T c.(6088-6090)Ctg>Ttg p.L2030L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 2030 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTAATAGGCAGAGATGCATCT 0.408000 20 16 0 0 0.004990 0 0 YEATS2 55689 broad.mit.edu 37 3 183435492 183435492 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:183435492C>T uc003fly.2 + 2 349 c.154C>T c.(154-156)Ctt>Ttt p.L52F NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 52 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACAGTTTGCTCTTGAAATGAA 0.323000 76 59 0 0 0.014410 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428792 120428792 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:120428792C>T uc003vjk.3 - 7 1146 c.772G>A c.(772-774)Gac>Aac p.D258N TSPAN12_uc010lkj.3_Missense_Mutation_p.D131N NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 258 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) ATCATTTGGTCTGTCCCCGGC 0.468000 35 56 0 0 0.014410 0 0 POTEG 404785 broad.mit.edu 37 14 19553590 19553590 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:19553590G>A uc001vuz.1 + 0 226 c.174G>A c.(172-174)agG>agA p.R58R POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 58 p.R58S(4)|p.L57P(1)|p.L57L(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGACACTCAGGAGCAAGATGG 0.612000 464 75 0 0 0.014410 0 0 PLD5 200150 broad.mit.edu 37 1 242271122 242271122 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:242271122C>T uc001hzn.2 - 8 1317 c.1090G>A c.(1090-1092)Gat>Aat p.D364N PLD5_uc021pll.1_Missense_Mutation_p.D272N|PLD5_uc001hzl.4_Missense_Mutation_p.D302N|PLD5_uc001hzm.4_Missense_Mutation_p.D156N|PLD5_uc001hzo.2_Missense_Mutation_p.D272N NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 364 integral to membrane catalytic activity p.D363N(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATTTTTGCATCCAAGTCTGGC 0.348000 147 23 0 0 0.012319 0 0 CST8 10047 broad.mit.edu 37 20 23472382 23472382 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:23472382G>A uc002wth.1 + 1 435 c.78G>A c.(76-78)aaG>aaA p.K26K NM_005492 NP_005483 O60676 CST8_HUMAN Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA. 26 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) ACCCAAAAAAGAATGAGACAG 0.532000 65 54 0 0 0.014410 0 0 CHRNA5 1138 broad.mit.edu 37 15 78873233 78873233 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:78873233C>T uc002bdy.3 + 1 387 c.187C>T c.(187-189)Cgt>Tgt p.R63C NM_000745 NP_000736 P30532 ACHA5_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA. 63 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 AAGATGGGTTCGTCCTGTGGA 0.328000 28 29 0 0 0.007291 0 0 CNGA4 1262 broad.mit.edu 37 11 6261362 6261362 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:6261362G>A uc001mco.3 + 3 453 c.338G>A c.(337-339)tGg>tAg p.W113* CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Nonsense_Mutation_p.W73* NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 113 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTCGCACCTGGAGTTTCTTC 0.617000 75 51 0 0 0.014410 0 0 PRKDC 5591 broad.mit.edu 37 8 48707049 48707049 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:48707049G>A uc003xqi.3 - 74 10526 c.10469C>T c.(10468-10470)cCc>cTc p.P3490L PRKDC_uc003xqj.3_Missense_Mutation_p.P3490L NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 3491 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.S3489S(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGCCAGCAGGGAACGGAAGA 0.418000 Non-homologous end-joining 17 10 0 0 0.010729 0 0 SLC22A24 283238 broad.mit.edu 37 11 62911098 62911098 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:62911098G>T uc021qkp.1 - 0 596 c.154C>A c.(154-156)Ccc>Acc p.P52T NM_001136506 NP_001129978 Homo sapiens solute carrier family 22, member 24 (SLC22A24), mRNA. kidney(1)|stomach(1) 2 TCCAGGAGGGGGACCCAGCAG 0.502000 7 17 2.94398e-08 3.97377e-08 0.007413 1 0 NPIPL2 440348 broad.mit.edu 37 16 74419270 74419270 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:74419270C>T uc010vmt.1 + 1 98 c.97C>T c.(97-99)Cga>Tga p.R33* C9J9U8 C9J9U8_HUMAN RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor; 94 endometrium(5)|kidney(3)|lung(1)|prostate(8) 17 CTTCTGGTCTCGAAATGGACA 0.473000 228 32 0 0 0.014410 0 0 ZNF473 25888 broad.mit.edu 37 19 50548183 50548183 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:50548183C>T uc002prn.3 + 4 720 c.483C>T c.(481-483)acC>acT p.T161T ZNF473_uc002prm.3_Silent_p.T161T|ZNF473_uc010ybo.2_Silent_p.T149T NM_001006656 NP_056243 Q8WTR7 ZN473_HUMAN Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA. 161 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding p.T161T(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CTGTGTCCACCGTTTCCACGG 0.468000 32 28 0 0 0.006320 0 0 PTCHD2 57540 broad.mit.edu 37 1 11574475 11574475 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:11574475G>A uc001ash.4 + 3 1483 c.1345G>A c.(1345-1347)Gac>Aac p.D449N PTCHD2_uc001asi.1_Missense_Mutation_p.D449N NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 449 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TGGGGGGACAGACCTGTTTGA 0.517000 6 52 0 0 0.014410 0 0 CDC14C 168448 broad.mit.edu 37 7 48965213 48965213 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:48965213G>A uc010kyv.1 + 0 1057 c.945G>A c.(943-945)agG>agA p.R315R Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA. CGTGGGTAAGGATCTGCAGAC 0.512000 35 22 0 0 0.014323 0 0 NID1 4811 broad.mit.edu 37 1 236212091 236212091 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:236212091A>G uc001hxo.3 - 1 526 c.424T>C c.(424-426)Ttc>Ctc p.F142L NID1_uc009xgd.3_Missense_Mutation_p.F142L NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 142 NIDO. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) ATCTCCGGGAACCCTCTGTGG 0.587000 40 38 0 0 0.006230 0 0 DDC 1644 broad.mit.edu 37 7 50531072 50531072 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:50531072G>A uc003tpg.4 - 13 1501 c.1300C>T c.(1300-1302)Cac>Tac p.H434Y DDC_uc022ade.1_Missense_Mutation_p.H356Y|DDC_uc003tpf.4_Missense_Mutation_p.H434Y|DDC_uc022adb.1_Missense_Mutation_p.H396Y|DDC_uc022adc.1_Missense_Mutation_p.H386Y|DDC_uc022add.1_Missense_Mutation_p.H341Y NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 434 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.H434L(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GGAACCAAGTGGATTTTTTTG 0.502000 40 51 0 0 0.014410 0 0 ZNF665 79788 broad.mit.edu 37 19 53667726 53667726 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:53667726G>A uc010eqm.1 - 3 2117 c.2017C>T c.(2017-2019)Cga>Tga p.R673* NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGAATTCTTCGATGTTTTGCA 0.488000 8 12 0 0 0.013537 0 0 ZACN 353174 broad.mit.edu 37 17 74075808 74075808 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:74075808C>T uc002jqn.2 + 2 331 c.248C>T c.(247-249)tCc>tTc p.S83F ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Intron NM_180990 NP_851321 Q401N2 ZACN_HUMAN Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA. 83 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 ACAATGTCCTCCATGCTGCTG 0.567000 16 12 0 0 0.004007 0 0 ALDH1B1 219 broad.mit.edu 37 9 38397029 38397029 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:38397029G>C uc022bgy.1 + 0 1284 c.1284G>C c.(1282-1284)aaG>aaC p.K428N ALDH1B1_uc004aay.3_Missense_Mutation_p.K428N NM_000692 NP_000683 P30837 AL1B1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA. 428 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TCAAGTTCAAGAAGATTGAGG 0.537000 14 15 0 0 0.002450 0 0 RET 5979 broad.mit.edu 37 10 43596097 43596097 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:43596097C>T uc001jal.3 + 1 454 c.264C>T c.(262-264)atC>atT p.I88I RET_uc001jak.1_Silent_p.I88I NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 88 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GGATCTGCATCCAGGAGGACA 0.647000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 6 6 0 0 0.001168 0 0 SACS 26278 broad.mit.edu 37 13 23907395 23907395 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:23907395G>A uc001uon.2 - 9 11209 c.10620C>T c.(10618-10620)ttC>ttT p.F3540F SACS_uc001uoo.2_Silent_p.F3393F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3540 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTCTATCATAGAAATGCTTTG 0.299000 12 14 0 0 0.001855 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899718 128899718 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:128899718G>A uc021rgn.1 + 1 527 c.527G>A c.(526-528)cGa>cAa p.R176Q NM_001136103 NP_001129575 Q8N3T6 T132C_HUMAN Homo sapiens transmembrane protein 132C (TMEM132C), mRNA. 176 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 TTTGCTTTCCGAGAAACCAGA 0.637000 6 4 0 0 0.000602 0 0 SCG2 7857 broad.mit.edu 37 2 224462720 224462720 + Silent SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:224462720T>G uc021vxk.1 - 0 1281 c.1281A>C c.(1279-1281)ctA>ctC p.L427L SCG2_uc002vnm.3_Silent_p.L427L NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 427 MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GCCCGTCTGGTAGGGCCTCAG 0.473000 32 32 0 0 0.003271 0 0 C10orf10 11067 broad.mit.edu 37 10 45473304 45473304 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:45473304C>T uc001jbr.4 - 1 465 c.175G>A c.(175-177)Gcc>Acc p.A59T RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.A59T NM_007021 NP_008952 Q9NTK1 DEPP_HUMAN Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA. 59 mitochondrion lung(1) 1 TGGCCCTGGGCCGTGGCCTTG 0.667000 20 12 0 0 0.013537 0 0 CACNA1E 777 broad.mit.edu 37 1 181686331 181686331 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:181686331T>G uc009wxt.3 + 10 1613 c.1418T>G c.(1417-1419)gTt>gGt p.V473G CACNA1E_uc001gow.3_Missense_Mutation_p.V473G|CACNA1E_uc009wxs.3_Missense_Mutation_p.V473G NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 473 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 CGCCACATGGTTAAATCCCAG 0.537000 3 137 0 0 0.014410 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475367 52475367 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:52475367C>T uc003dea.1 - 6 726 c.726G>A c.(724-726)aaG>aaA p.K242K NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 242 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) AGAAGTACACCTTGTCATTGT 0.627000 17 7 0 0 0.001984 0 0 MBL1P 8512 broad.mit.edu 37 10 81667602 81667602 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:81667602G>A uc021puw.1 + 2 c.540G>A Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA. GCCCTGTGATGATCGTGTCAG 0.483000 20 23 0 0 0.002780 0 0 ZNF516 9658 broad.mit.edu 37 18 74090987 74090987 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:74090987G>A uc021ulp.1 - 3 3401 c.3083C>T c.(3082-3084)gCc>gTc p.A1028V ZNF516_uc002lmd.3_Non-coding_Transcript NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 1028 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCCGGGCTGGGCCTGCAAGGC 0.701000 17 30 0 0 0.007291 0 0 IGSF21 84966 broad.mit.edu 37 1 18692055 18692055 + Silent SNP G A A rs35594539 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:18692055G>A uc001bau.2 + 5 1262 c.879G>A c.(877-879)ccG>ccA p.P293P IGSF21_uc001bav.2_Silent_p.P114P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 293 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GCCGCACCCCGAGCAGTGACG 0.632000 7 54 0 0 0.014410 0 0 RPA4 29935 broad.mit.edu 37 X 96139537 96139537 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:96139537C>T uc004efv.4 + 0 631 c.228C>T c.(226-228)atC>atT p.I76I DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN Homo sapiens replication protein A4, 30kDa (RPA4), mRNA. 76 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 AGGTCTCCATCGTGGGGGTAA 0.468000 Other identified genes with known or suspected DNA repair function 17 11 0 0 0.008291 0 0 HEATR5A 25938 broad.mit.edu 37 14 31762523 31762523 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:31762523G>A uc001wrf.4 - 35 6314 c.6129C>T c.(6127-6129)acC>acT p.T2043T HEATR5A_uc010ami.3_Silent_p.T1573T NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 2037 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AGAGGAAACTGGTCTTTAATT 0.353000 50 46 0 0 0.014410 0 0 UBR4 23352 broad.mit.edu 37 1 19445392 19445392 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:19445392G>A uc001bbi.3 - 70 10519 c.10515C>T c.(10513-10515)acC>acT p.T3505T UBR4_uc001bbj.1_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3505 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGGGTGGTTGGTAAGAATAT 0.423000 6 44 0 0 0.014410 0 0 LOC728989 728989 broad.mit.edu 37 1 146494537 146494537 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:146494537C>T uc001epd.2 - 3 536 c.462G>A c.(460-462)gcG>gcA p.A154A Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA. TTGGCAGGGCCGCTCTCCAGA 0.567000 25 6 0 0 0.006214 0 0 CPN2 1370 broad.mit.edu 37 3 194063279 194063279 + Silent SNP C T T rs141207947 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:194063279C>T uc003fts.3 - 1 243 c.153G>A c.(151-153)acG>acA p.T51T CPN2_uc021xix.1_Silent_p.T51T NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 51 protein stabilization extracellular region enzyme regulator activity p.T51T(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGATGTTTTTCGTATATGGCG 0.537000 58 31 0 0 0.012213 0 0 FAT2 2196 broad.mit.edu 37 5 150920164 150920164 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:150920164G>A uc003lue.4 - 9 9016 c.9003C>T c.(9001-9003)gtC>gtT p.V3001V NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 3001 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACGTCCAGGACAAAGATCT 0.547000 12 10 0 0 0.010729 0 0 OR52E6 390078 broad.mit.edu 37 11 5862509 5862509 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5862509G>A uc010qzq.2 - 0 619 c.619C>T c.(619-621)Ctc>Ttc p.L207F TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATAACAAGAGAGAAATACTG 0.473000 36 21 0 0 0.008871 0 0 KIAA1324 57535 broad.mit.edu 37 1 109731707 109731707 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:109731707A>G uc021orb.1 + 9 1460 c.1239A>G c.(1237-1239)gcA>gcG p.A413A KIAA1324_uc009wex.2_Silent_p.A363A|KIAA1324_uc010ovg.2_Silent_p.A311A|KIAA1324_uc009wey.3_Silent_p.A326A|KIAA1324_uc001dwr.3_Silent_p.A63A NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 413 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GCTGCCCTGCAGGGACTGAAC 0.532000 7 65 0 0 0.014410 0 0 TRIM31 11074 broad.mit.edu 37 6 30075858 30075858 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:30075858G>A uc003npg.1 - 5 965 c.855C>T c.(853-855)tcC>tcT p.S285S TRIM31_uc003npi.3_Non-coding_Transcript NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 285 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TCCCTGTGATGGAGTCATGTC 0.428000 52 9 0 0 0.004007 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139554 142139554 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:142139554G>A uc003vyt.3 - 1 116 c.71C>T c.(70-72)tCc>tTc p.S24F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GGGAGACTGGGAGACTCCAGC 0.478000 22 43 0 0 0.014410 0 0 LYG2 254773 broad.mit.edu 37 2 99860512 99860512 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:99860512T>C uc002szw.1 - 4 583 c.470A>G c.(469-471)aAg>aGg p.K157R MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.K157R|LYG2_uc002szx.1_Missense_Mutation_p.K157R NM_175735 NP_783862 Q86SG7 LYG2_HUMAN Homo sapiens lysozyme G-like 2 (LYG2), mRNA. 157 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity p.I156N(1) large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 CTGGATTGCCTTAATTCTCTC 0.438000 34 16 0 0 0.007413 0 0 TXLNB 167838 broad.mit.edu 37 6 139563669 139563669 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:139563669G>A uc021zfy.1 - 9 2214 c.2049C>T c.(2047-2049)gtC>gtT p.V683V NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN Homo sapiens taxilin beta (TXLNB), mRNA. 683 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) AGGCTTAGTCGACGCCTTCCA 0.582000 4 15 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179658259 179658259 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179658259C>T uc021vsy.1 - 8 1633 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K TTN_uc021vsz.1_Missense_Mutation_p.E470K|TTN_uc021vta.1_Missense_Mutation_p.E470K|TTN_uc021vtb.1_Missense_Mutation_p.E470K|TTN_uc002unb.2_Missense_Mutation_p.E470K|TTN_uc010frg.1_Missense_Mutation_p.E144K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 470 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) TTCTCCGCTTCCTTTCTTACC 0.398000 29 32 0 0 0.003271 0 0 SARDH 1757 broad.mit.edu 37 9 136584143 136584143 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:136584143G>A uc004cep.4 - 6 1071 c.937C>T c.(937-939)Cat>Tat p.H313Y SARDH_uc004ceo.3_Missense_Mutation_p.H313Y|SARDH_uc011mdo.2_Missense_Mutation_p.H145Y|SARDH_uc011mdn.2_Missense_Mutation_p.H313Y NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 313 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GAGGCATCATGATCACGGACA 0.597000 5 25 0 0 0.010818 0 0 ASIC2 40 broad.mit.edu 37 17 32483453 32483453 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:32483453G>A uc002hhu.3 - 0 373 c.99C>T c.(97-99)ttC>ttT p.F33F NM_001094 NP_001085 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA. 33 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCCCATACACGAAGATGTGGC 0.612000 13 15 0 0 0.004990 0 0 ARID2 196528 broad.mit.edu 37 12 46244787 46244787 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:46244787C>T uc001ros.1 + 14 2881 c.2881C>T c.(2881-2883)Cag>Tag p.Q961* ARID2_uc001ror.3_Nonsense_Mutation_p.Q961*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q417*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q588*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q295* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 961 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCAGACAGTTCAGCTAACTGG 0.483000 """N, S, F""" hepatocellular carcinoma 47 36 0 0 0.004878 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85024132 85024132 + Silent SNP G A A rs138250474 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:85024132G>A uc010voi.1 - 2 446 c.93C>T c.(91-93)tcC>tcT p.S31S ZDHHC7_uc002fiq.2_Silent_p.S31S|ZDHHC7_uc002fir.1_Non-coding_Transcript NM_001145548 NP_001139020 Q9NXF8 ZDHC7_HUMAN Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA. 31 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 CGTCAGCCTCGGAGGAGGAGG 0.577000 13 18 0 0 0.004990 0 0 PCCB 5096 broad.mit.edu 37 3 136035827 136035827 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:136035827C>T uc011bmc.2 + 10 1122 c.1071C>T c.(1069-1071)gcC>gcT p.A357A PCCB_uc003eqz.1_Silent_p.A337A|PCCB_uc003eqy.2_Silent_p.A337A|PCCB_uc011bmd.1_Silent_p.A254A NM_001178014 NP_001171485 P05166 PCCB_HUMAN Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 337 Acyl-CoA binding (Potential).|Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) CCAATTATGCCAAGAACATCA 0.398000 70 56 0 0 0.014410 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13399989 13399989 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:13399989G>A uc002gob.1 - 1 1544 c.746C>T c.(745-747)gCc>gTc p.A249V NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA. 249 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTCCGAGATGGCCCTGGTCAC 0.642000 50 8 0 0 0.004990 0 0 HCAR1 27198 broad.mit.edu 37 12 123214031 123214031 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:123214031G>A uc001ucz.3 - 0 1099 c.856C>T c.(856-858)Ccc>Tcc p.P286S HCAR1_uc001ucw.1_Non-coding_Transcript NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA. 286 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 TAGAATTTGGGAAAGGAGGGG 0.498000 69 58 0 0 0.014410 0 0 PPP4R4 57718 broad.mit.edu 37 14 94708700 94708700 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94708700C>T uc001ycs.1 + 10 1375 c.1221C>T c.(1219-1221)gaC>gaT p.D407D NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 407 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTTGCCATGACCCTGAAGTAC 0.388000 66 68 0 0 0.014410 0 0 ITGB4 3691 broad.mit.edu 37 17 73725384 73725384 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:73725384C>T uc002jpg.3 + 6 792 c.605C>T c.(604-606)tCc>tTc p.S202F ITGB4_uc002jph.3_Missense_Mutation_p.S202F|ITGB4_uc010dgo.3_Missense_Mutation_p.S202F|ITGB4_uc002jpi.4_Missense_Mutation_p.S202F|ITGB4_uc010dgp.1_Missense_Mutation_p.S202F|ITGB4_uc002jpj.3_Missense_Mutation_p.S202F|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 202 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity p.F201fs*9(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCCCCTTCTCCTTCAAGAAC 0.612000 28 25 0 0 0.005443 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795202 142795202 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:142795202C>T uc004fbz.3 - 1 1230 c.476G>A c.(475-477)gGa>gAa p.G159E NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 159 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGGTGG 0.502000 294 455 0 0 0.014410 0 0 NHS 4810 broad.mit.edu 37 X 17744328 17744328 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:17744328C>T uc011mix.2 + 6 2440 c.2102C>T c.(2101-2103)tCc>tTc p.S701F NHS_uc004cxx.3_Missense_Mutation_p.S680F|NHS_uc004cxy.3_Missense_Mutation_p.S524F|NHS_uc004cxz.3_Missense_Mutation_p.S503F|NHS_uc004cya.3_Missense_Mutation_p.S403F NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 680 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CGGGCAAACTCCTTTACCTCC 0.498000 127 90 0 0 0.014410 0 0 FILIP1 27145 broad.mit.edu 37 6 76022383 76022383 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:76022383G>A uc010kbe.3 - 5 3704 c.3174C>T c.(3172-3174)tcC>tcT p.S1058S FILIP1_uc003phy.1_Silent_p.S1055S|FILIP1_uc003phz.3_Silent_p.S956S|FILIP1_uc003pia.3_Silent_p.S1055S|FILIP1_uc003pib.1_Silent_p.S807S NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 1055 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 TATTGGCATTGGAGTTGTATT 0.468000 17 95 0 0 0.014410 0 0 DSCAM 1826 broad.mit.edu 37 21 41711223 41711223 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:41711223C>T uc002yyq.1 - 6 1782 c.1330G>A c.(1330-1332)Gat>Aat p.D444N DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 444 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATCGGGTCATCGTCCAGGGTC 0.567000 20 12 0 0 0.002450 0 0 TEKT1 83659 broad.mit.edu 37 17 6719154 6719154 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:6719154G>A uc002gdt.3 - 4 595 c.485_splice c.e4+1 p.R162_splice TEKT1_uc010vth.2_Splice_Site_p.R16_splice NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 162 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) GAGTCATACCGAATCTGCTCG 0.532000 17 26 0 0 0.008361 0 0 DSG3 1830 broad.mit.edu 37 18 29056114 29056114 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:29056114G>A uc002kws.3 + 15 3000 c.2891G>A c.(2890-2892)aGg>aAg p.R964K DSG3_uc002kwt.3_Missense_Mutation_p.R246K NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 964 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTGACAGAAAGGGTGATCTGT 0.502000 58 36 0 0 0.004878 0 0 ADAD2 161931 broad.mit.edu 37 16 84229435 84229435 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:84229435C>T uc002fhq.2 + 7 1427 c.1313C>T c.(1312-1314)tCg>tTg p.S438L ADAD2_uc002fhr.2_Missense_Mutation_p.S356L|AK123582_uc002fhs.1_Intron NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 356 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CCCCCCACCTCGGAAGGTGGC 0.706000 10 12 0 0 0.007413 0 0 RPL32P3 132241 broad.mit.edu 37 3 129115991 129115991 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:129115991G>A uc003eme.1 - 0 c.807C>T RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA. lung(1) 1 TGCCTTTTGGGGAAGAAGTAG 0.532000 71 66 0 0 0.014410 0 0 C3orf72 401089 broad.mit.edu 37 3 138669293 138669293 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:138669293G>A uc003esx.1 + 2 538 c.407G>A c.(406-408)cGa>cAa p.R136Q AK304483_uc011bmr.2_3'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA. 136 large_intestine(1)|lung(3) 4 GCGGGACCCCGAAACACCCGG 0.657000 18 11 0 0 0.010729 0 0 GRIP1 23426 broad.mit.edu 37 12 66765699 66765699 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:66765699G>A uc001stk.3 - 21 2872 c.2631C>T c.(2629-2631)atC>atT p.I877I GRIP1_uc010sta.1_Silent_p.I821I|GRIP1_uc001stj.3_Silent_p.I644I|GRIP1_uc001stm.3_Silent_p.I862I|GRIP1_uc001stl.1_Silent_p.I754I NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 929 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity p.I877V(1) NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCCCCGACATGATTGTTGCCT 0.527000 41 30 0 0 0.010818 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111768020 111768020 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:111768020C>T uc001vrs.2 + 0 397 c.147C>T c.(145-147)ctC>ctT p.L49L ARHGEF7_uc001vrr.2_Silent_p.L49L|ARHGEF7_uc001vrt.2_Silent_p.L49L NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA. 49 CH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AGCGCCTGCTCCCCGGGACCA 0.721000 8 6 0 0 0.001168 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229215 8229215 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:8229215C>T uc003gkv.4 + 11 1895 c.1794C>T c.(1792-1794)ttC>ttT p.F598F SH3TC1_uc003gkw.4_Silent_p.F522F|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 598 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGGACCTGTTCCTAGTGGTGG 0.642000 4 79 0 0 0.014410 0 0 ZNF34 80778 broad.mit.edu 37 8 145998914 145998914 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:145998914G>A uc003zdy.4 - 5 1522 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S ZNF34_uc010mgb.3_Missense_Mutation_p.P371S|ZNF34_uc003zdx.4_Missense_Mutation_p.P453S NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN Homo sapiens zinc finger protein 34 (ZNF34), mRNA. 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) CACTTGTAGGGCTTCTCTCCT 0.537000 15 22 0 0 0.003954 0 0 PAQR5 54852 broad.mit.edu 37 15 69652437 69652438 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:69652437_69652438CC>TT uc002arz.2 + 2 396_397 c.18_19CC>TT c.(16-21)ctcccc>ctTTcc p.P7S PAQR5_uc002asa.2_Missense_Mutation_p.P7S NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA. 7 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 GCCTGAAGCTCCCCAGGCTGTT 0.550000 37 27 0 0 0.004672 0 0 LOC729862 729862 broad.mit.edu 37 5 28927157 28927157 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:28927157G>A uc003jgz.1 + 0 c.181G>A Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. CTTCCTACAGGGAGAAAGGAA 0.458000 15 4 0 0 0.002450 0 0 SAMHD1 25939 broad.mit.edu 37 20 35547838 35547838 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:35547838G>A uc002xgh.2 - 6 981 c.781C>T c.(781-783)Cct>Tct p.P261S NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA. 261 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TCTTCTTCAGGGATGAGACCA 0.348000 33 24 0 0 0.003330 0 0 ESYT3 83850 broad.mit.edu 37 3 138170893 138170893 + Missense_Mutation SNP C T T rs143292701 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:138170893C>T uc003esk.3 + 1 557 c.331C>T c.(331-333)Cac>Tac p.H111Y ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 111 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 TTCCTAGATCCACTTCCCGGA 0.672000 97 85 0 0 0.014410 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415687 105415687 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:105415687G>A uc010axc.1 - 6 6221 c.6101C>T c.(6100-6102)aCt>aTt p.T2034I AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T1934I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2034 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) GCTGAGGTCAGTGGTCTTCAG 0.667000 38 67 0 0 0.014410 0 0 HTR1A 3350 broad.mit.edu 37 5 63256305 63256305 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:63256305G>A uc011cqt.2 - 0 1242 c.1242C>T c.(1240-1242)atC>atT p.I414I NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 414 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity p.I414I(2) cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TACACTTAATGATCTTCTTAA 0.507000 120 89 0 0 0.014410 0 0 STARD13 90627 broad.mit.edu 37 13 33701591 33701591 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:33701591C>T uc001uuw.3 - 5 1967 c.1841G>A c.(1840-1842)aGc>aAc p.S614N STARD13_uc001uuu.3_Missense_Mutation_p.S606N|STARD13_uc001uuv.3_Missense_Mutation_p.S496N|STARD13_uc001uux.3_Missense_Mutation_p.S579N|STARD13_uc010abh.1_Missense_Mutation_p.S599N|STARD13_uc021rhz.1_Missense_Mutation_p.S606N|STARD13_uc021ria.1_Missense_Mutation_p.S496N NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 614 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) CTGGAGCAGGCTCAGCTGGCT 0.627000 4 3 0 0 0.004672 0 0 TLN1 7094 broad.mit.edu 37 9 35704686 35704686 + Missense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:35704686C>A uc003zxt.2 - 43 6214 c.5860G>T c.(5860-5862)Gcc>Tcc p.A1954S NM_006289 NP_006280 Q9Y490 TLN1_HUMAN Homo sapiens talin 1 (TLN1), mRNA. 1954 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTCTCCGGGCACACTCTATG 0.612000 22 19 7.41877e-09 1.00184e-08 0.012319 1 0 SEPT14 346288 broad.mit.edu 37 7 55914298 55914298 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:55914298C>T uc003tqz.2 - 2 204 c.87G>A c.(85-87)acG>acA p.T29T NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN Homo sapiens septin 14 (SEPT14), mRNA. 29 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AATGTCCAATCGTAGTTAAAC 0.299000 39 95 0 0 0.014410 0 0 MOSPD1 56180 broad.mit.edu 37 X 134030969 134030969 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:134030969C>T uc004eyb.3 - 3 513 c.326G>A c.(325-327)gGa>gAa p.G109E MOSPD1_uc004eya.3_Missense_Mutation_p.G109E|MOSPD1_uc010nrv.3_Non-coding_Transcript|MOSPD1_uc011mvr.2_Missense_Mutation_p.G109E NM_019556 NP_062456 Q9UJG1 MSPD1_HUMAN Homo sapiens motile sperm domain containing 1 (MOSPD1), mRNA. 109 MSP. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter integral to membrane|nucleus|perinuclear region of cytoplasm structural molecule activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 9 Acute lymphoblastic leukemia(192;0.000127) CTCTTTTCTTCCCAAAGCCTT 0.388000 146 75 0 0 0.014410 0 0 PIGG 54872 broad.mit.edu 37 4 515512 515512 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:515512C>T uc003gak.4 + 7 1532 c.1396C>T c.(1396-1398)Cca>Tca p.P466S PIGG_uc003gaj.4_Missense_Mutation_p.P458S|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.P333S|PIGG_uc003gal.4_Missense_Mutation_p.P377S|PIGG_uc011buw.2_Silent_p.S328S|PIGG_uc003gam.3_3'UTR|PIGG_uc003gan.3_Missense_Mutation_p.P377S NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA. 466 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GCTGGAAGTCCCACTGTCATC 0.537000 20 18 0 0 0.010504 0 0 L1CAM 3897 broad.mit.edu 37 X 153135271 153135271 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:153135271C>T uc004fjb.3 - 8 1218 c.1110G>A c.(1108-1110)ggG>ggA p.G370G L1CAM_uc004fjc.3_Silent_p.G370G|L1CAM_uc010nuo.3_Silent_p.G365G|L1CAM_uc004fjd.1_Silent_p.G184G NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 370 Ig-like C2-type 4. G -> R (in HSAS, MASA and SPG1). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACAGGGATCCCGTTGATTC 0.652000 37 6 0 0 0.001984 0 0 DOCK3 1795 broad.mit.edu 37 3 51266125 51266125 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:51266125C>T uc011bds.2 + 17 1704 c.1681C>T c.(1681-1683)Ctg>Ttg p.L561L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 561 DHR-1. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TAACCATGCTCTGTACCTGGG 0.468000 18 19 0 0 0.008871 0 0 POU3F4 5456 broad.mit.edu 37 X 82763472 82763472 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:82763472C>T uc004eeg.2 + 0 204 c.140C>T c.(139-141)cCc>cTc p.P47L NM_000307 NP_000298 P49335 PO3F4_HUMAN Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. 47 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity p.P47T(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 CAGGGAGTTCCCAGCAATGGG 0.622000 11 10 0 0 0.008291 0 0 PIGZ 80235 broad.mit.edu 37 3 196675001 196675001 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:196675001C>T uc003fxh.3 - 2 914 c.767G>A c.(766-768)cGg>cAg p.R256Q NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA. 256 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) CAGGGCCTCCCGGGTCAGAGA 0.622000 7 12 0 0 0.001855 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134073 233134073 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:233134073C>T uc001hvl.2 - 31 5950 c.5715G>A c.(5713-5715)caG>caA p.Q1905Q PCNXL2_uc001hvk.1_Silent_p.Q557Q|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1905 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CGCTGCTCTCCTGGCTGCCAC 0.627000 1 57 0 0 0.014410 0 0 SFXN4 119559 broad.mit.edu 37 10 120917536 120917536 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:120917536G>A uc001leb.3 - 6 444 c.399C>T c.(397-399)tcC>tcT p.S133S SFXN4_uc001ldy.3_Silent_p.S17S|SFXN4_uc001lea.3_Non-coding_Transcript NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN Homo sapiens sideroflexin 4 (SFXN4), mRNA. 133 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) GTAAAATCACGGACTTGATCC 0.428000 40 24 0 0 0.005443 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216380 20216380 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:20216380G>A uc010tkt.2 + 0 794 c.794G>A c.(793-795)aGc>aAc p.S265N NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTTTCTGCAGCTTCTCTGTG 0.453000 134 57 0 0 0.014410 0 0 CLPB 81570 broad.mit.edu 37 11 72012885 72012885 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:72012885G>A uc001osj.3 - 11 1431 c.1381C>T c.(1381-1383)Cca>Tca p.P461S CLPB_uc010rqx.2_Missense_Mutation_p.P416S|CLPB_uc010rqy.2_Missense_Mutation_p.P402S|CLPB_uc001osk.3_Missense_Mutation_p.P431S|CLPB_uc010rqz.2_Missense_Mutation_p.P260S|CLPB_uc001osi.3_Missense_Mutation_p.P69S NM_030813 NP_110440 Q9H078 CLPB_HUMAN Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA. 461 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 AGCACATCTGGATGGGCCTTG 0.562000 235 205 0 0 0.014410 0 0 SFTPD 6441 broad.mit.edu 37 10 81701771 81701771 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:81701771G>A uc001kbh.3 - 4 532 c.489C>T c.(487-489)ggC>ggT p.G163G NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 163 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CTCCCTTAGGGCCTGCGAGGC 0.617000 42 28 0 0 0.005443 0 0 PNLIP 5406 broad.mit.edu 37 10 118320013 118320013 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:118320013C>T uc001lcm.3 + 10 1189 c.1146C>T c.(1144-1146)aaC>aaT p.N382N NM_000936 NP_000927 P16233 LIPP_HUMAN Homo sapiens pancreatic lipase (PNLIP), mRNA. 382 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) ATAAAGGAAACTCTAAGCAGT 0.378000 19 9 0 0 0.006214 0 0 OR52R1 119695 broad.mit.edu 37 11 4824732 4824732 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4824732G>A uc021qcs.1 - 0 879 c.879C>T c.(877-879)atC>atT p.I293I NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCATAAATGATGGGGTTGA 0.473000 71 49 0 0 0.014410 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888738 51888738 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:51888738C>T uc001rys.1 + 20 2957 c.2779C>T c.(2779-2781)Cgt>Tgt p.R927C SLC4A8_uc001rym.3_Missense_Mutation_p.R874C|SLC4A8_uc001ryn.3_Missense_Mutation_p.R874C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R874C|SLC4A8_uc010snj.2_Missense_Mutation_p.R954C|SLC4A8_uc001ryr.3_Missense_Mutation_p.R927C NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 927 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GTTCTTTGATCGTCTAAAGCT 0.478000 22 26 0 0 0.006320 0 0 KCNMA1 3778 broad.mit.edu 37 10 78850189 78850189 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:78850189C>T uc001jxn.3 - 9 1480 c.1303G>A c.(1303-1305)Gac>Aac p.D435N KCNMA1_uc021ptu.1_Missense_Mutation_p.D381N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D435N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D50N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D255N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D89N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D435N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D435N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D435N NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 435 RCK N-terminal. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) ACATTGACGTCATCCCGGTCC 0.522000 34 40 0 0 0.009718 0 0 ZNF197 10168 broad.mit.edu 37 3 44685209 44685209 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:44685209G>A uc003cnm.3 + 5 2793 c.2587G>A c.(2587-2589)Gaa>Aaa p.E863K ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. 863 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AAACCTGATTGAACATCAAAG 0.408000 40 46 0 0 0.011902 0 0 SLC9A5 6553 broad.mit.edu 37 16 67289375 67289375 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:67289375G>A uc002esm.3 + 4 796 c.733_splice c.e4+1 p.A245_splice SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_Splice_Site NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 245 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) AAGGGAGTCGGTCAGTATTTC 0.592000 22 23 0 0 0.002780 0 0 FRMD3 257019 broad.mit.edu 37 9 85863229 85863229 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:85863229G>A uc004ams.2 - 13 1600 c.1398C>T c.(1396-1398)ctC>ctT p.L466L FRMD3_uc004amr.1_Silent_p.L466L|FRMD3_uc022bja.1_Silent_p.L422L|FRMD3_uc004amq.1_Silent_p.L123L|FRMD3_uc022biz.1_Silent_p.L272L NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA. 466 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GACAGTCAAAGAGCATGTCAA 0.438000 7 44 0 0 0.014410 0 0 CSMD1 64478 broad.mit.edu 37 8 3889560 3889560 + Silent SNP C T T rs111253069 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:3889560C>T uc022aqr.1 - 3 867 c.477G>A c.(475-477)acG>acA p.T159T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 159 Sushi 1. 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) TGTTGAATCTCGTTCCATGCA 0.458000 35 27 0 0 0.007291 0 0 STARD8 9754 broad.mit.edu 37 X 67943842 67943842 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:67943842G>A uc004dxb.3 + 13 3287 c.3073G>A c.(3073-3075)Gat>Aat p.D1025N STARD8_uc004dxa.3_Missense_Mutation_p.D945N|STARD8_uc004dxc.4_Missense_Mutation_p.D945N NM_001142503 NP_055540 Q92502 STAR8_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA. 945 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CCAGTCCCTGGATCCGGAACA 0.602000 23 15 0 0 0.002450 0 0 TMC2 117532 broad.mit.edu 37 20 2592879 2592879 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:2592879C>T uc002wgf.1 + 12 1651 c.1636C>T c.(1636-1638)Ctg>Ttg p.L546L TMC2_uc002wgg.1_Silent_p.L530L|TMC2_uc010zpw.1_Silent_p.L378L|TMC2_uc010zpx.1_Silent_p.L377L NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 546 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 TCACTGGACTCTGTTTAACTA 0.512000 42 39 0 0 0.008740 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994385 45994385 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:45994385C>T uc002zfk.1 + 0 780 c.750C>T c.(748-750)tgC>tgT p.C250C TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA. 250 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CCTCTTCATGCTGCCAGCAGT 0.627000 66 64 0 0 0.014410 0 0 LIG4 3981 broad.mit.edu 37 13 108862926 108862926 + Missense_Mutation SNP G A A rs3093765 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:108862926G>A uc001vqn.3 - 1 964 c.691C>T c.(691-693)Cct>Tct p.P231S LIG4_uc001vqo.3_Missense_Mutation_p.P231S|LIG4_uc010agf.3_Missense_Mutation_p.P231S|LIG4_uc001vqp.3_Missense_Mutation_p.P231S|LIG4_uc010agg.1_Missense_Mutation_p.P164S|LIG4_uc021rmk.1_Missense_Mutation_p.P231S NM_002312 NP_996820 P49917 DNLI4_HUMAN Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA. 231 P -> S (in dbSNP:rs3093765). DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CCTACAGAAGGATCATGCAGT 0.363000 Non-homologous end-joining 22 23 0 0 0.002780 0 0 MEP1A 4224 broad.mit.edu 37 6 46803057 46803057 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:46803057C>T uc011dwh.1 + 11 1947 c.1939C>T c.(1939-1941)Caa>Taa p.Q647* MEP1A_uc010jzh.1_Nonsense_Mutation_p.Q619*|MEP1A_uc011dwg.1_Nonsense_Mutation_p.Q341*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.Q519* NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 619 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CCTCATTCTCCAAGGCCAGGA 0.552000 3 8 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179396937 179396937 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179396937T>A uc021vsy.1 - 306 96926 c.96701A>T c.(96700-96702)aAa>aTa p.K32234I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K25929I|TTN_uc021vta.1_Missense_Mutation_p.K25862I|TTN_uc021vtb.1_Missense_Mutation_p.K25737I|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33161 Protein kinase. 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) TCGCCTTGATTTCTTTCTAGA 0.413000 23 14 0 0 0.003163 0 0 DSG4 147409 broad.mit.edu 37 18 28983388 28983388 + Missense_Mutation SNP G A A rs74896702 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:28983388G>A uc002kwr.2 + 10 1562 c.1427G>A c.(1426-1428)gGa>gAa p.G476E DSG4_uc002kwq.2_Missense_Mutation_p.G476E NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 476 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.G476V(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GATGGCTCTGGAAAAACAGCT 0.403000 7 7 0 0 0.003080 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369238 86369238 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:86369238T>C uc001vll.1 - 1 1865 c.1406A>G c.(1405-1407)aAc>aGc p.N469S SLITRK6_uc021rla.1_Missense_Mutation_p.N469S NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 469 N -> H (in Ref. 1). integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTGGAGGAGGTTGTTATTTAA 0.328000 42 42 0 0 0.010771 0 0 LOC283914 283914 broad.mit.edu 37 16 34624268 34624268 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:34624268C>T uc002edw.3 + 8 c.2114C>T LOC283914_uc010vgc.1_Intron Homo sapiens uncharacterized LOC283914 (LOC283914), non-coding RNA. ATCTGTTTTCCATGAACAATT 0.368000 61 44 0 0 0.007835 0 0 OR2A2 442361 broad.mit.edu 37 7 143806811 143806811 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143806811G>A uc011ktz.2 + 0 136 c.136G>A c.(136-138)Ggg>Agg p.G46R NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GGTCATCTTTGGGATTATCTG 0.507000 129 64 0 0 0.014410 0 0 SCN5A 6331 broad.mit.edu 37 3 38674559 38674559 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:38674559C>T uc021wvo.1 - 0 292 c.240G>A c.(238-240)ctG>ctA p.L80L SCN5A_uc021wvk.1_Silent_p.L80L|SCN5A_uc021wvl.1_Silent_p.L80L|SCN5A_uc021wvm.1_Silent_p.L80L|SCN5A_uc021wvn.1_Silent_p.L80L|SCN5A_uc021wvp.1_Silent_p.L80L|SCN5A_uc021wvq.1_Silent_p.L80L|SCN5A_uc021wvr.1_Silent_p.L80L|SCN5A_uc021wvs.1_Silent_p.L80L|SCN5A_uc021wvt.1_Silent_p.L80L|SCN5A_uc021wvu.1_Silent_p.L80L|SCN5A_uc021wvv.1_Silent_p.L80L|SCN5A_uc021wvx.1_Nonsense_Mutation_p.W83* NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 80 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCAGGTCCTCCAGGGGCTCTC 0.612000 21 14 0 0 0.006122 0 0 KCTD14 65987 broad.mit.edu 37 11 77728220 77728220 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:77728220A>G uc001oyw.4 - 1 212 c.187T>C c.(187-189)Ttc>Ctc p.F63L NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA. 63 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AAGCTAGAGAACATCTCTGCC 0.597000 20 25 0 0 0.006320 0 0 TPTE 7179 broad.mit.edu 37 21 10996107 10996107 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:10996107G>A uc002yis.1 - 11 c.2079C>T P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCCCAGTTCGACTTCTTTGC 0.413000 69 13 0 0 0.004007 0 0 USP7 7874 broad.mit.edu 37 16 8996278 8996278 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:8996278C>T uc002czl.2 - 16 2100 c.1901G>A c.(1900-1902)cGa>cAa p.R634Q USP7_uc010uyk.1_Missense_Mutation_p.R535Q|USP7_uc010uyj.1_Missense_Mutation_p.R535Q|USP7_uc002czk.2_Missense_Mutation_p.R618Q|USP7_uc010uyl.1_Non-coding_Transcript NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 634 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CATTGCTGGTCGTTTTGTTCC 0.383000 26 20 0 0 0.006320 0 0 USH2A 7399 broad.mit.edu 37 1 216595659 216595659 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:216595659G>A uc001hku.1 - 1 407 c.20C>T c.(19-21)tCa>tTa p.S7L USH2A_uc001hkv.3_Missense_Mutation_p.S7L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 7 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) AGAGCCCAATGAAAGAACTGG 0.408000 HNSCC(13;0.011) 4 82 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 113529451 113529451 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:113529451G>A uc003ynu.3 - 27 4727 c.4568C>T c.(4567-4569)tCt>tTt p.S1523F CSMD3_uc003yns.3_Missense_Mutation_p.S795F|CSMD3_uc003ynt.3_Missense_Mutation_p.S1483F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1419F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1523 CUB 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTGGCAACAGAACCTATCAA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 12 0 0 0.010729 0 0 VCAN 1462 broad.mit.edu 37 5 82833076 82833076 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:82833076C>T uc003kii.3 + 7 4610 c.4254C>T c.(4252-4254)acC>acT p.T1418T VCAN_uc003kij.3_Silent_p.T431T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T82T NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1418 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATCTCGTTACCACTGTGCCCA 0.468000 17 30 0 0 0.013726 0 0 TEKT5 146279 broad.mit.edu 37 16 10729726 10729726 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:10729726C>T uc002czz.1 - 5 1208 c.1136G>A c.(1135-1137)aGg>aAg p.R379K NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 379 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 CATGATGGACCTTTCCAGCAG 0.637000 82 68 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176410 140176410 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140176410C>T uc003lhd.2 + 0 1967 c.1861C>T c.(1861-1863)Ccg>Tcg p.P621S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P621S|PCDHAC2_uc011czy.2_Missense_Mutation_p.P621S NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 632 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCGCATCCCGTTCCGCGT 0.637000 28 27 0 0 0.007291 0 0 NLRP3 114548 broad.mit.edu 37 1 247587682 247587682 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247587682G>A uc001icr.3 + 4 1075 c.937G>A c.(937-939)Gag>Aag p.E313K NLRP3_uc001ics.3_Missense_Mutation_p.E313K|NLRP3_uc001icu.3_Missense_Mutation_p.E313K|NLRP3_uc001icw.3_Missense_Mutation_p.E313K|NLRP3_uc001icv.3_Missense_Mutation_p.E313K|NLRP3_uc010pyw.2_Missense_Mutation_p.E311K|NLRP3_uc001ict.1_Missense_Mutation_p.E311K NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 313 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 p.E313D(1) 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) TGCCTTTGACGAGCACATAGG 0.577000 6 125 0 0 0.014410 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960499 143960499 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:143960499G>A uc010mey.3 - 2 486 c.479C>T c.(478-480)cCc>cTc p.P160L CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.P115L|CYP11B1_uc003yxj.3_Missense_Mutation_p.P115L NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 115 M -> I (in dbSNP:rs5287). aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGCCACCCAGGGCTCCAGGCT 0.617000 Familial Hyperaldosteronism type I 16 15 0 0 0.003163 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011373 105011373 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:105011373G>A uc004elz.1 + 10 2536 c.1780G>A c.(1780-1782)Gcc>Acc p.A594T NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 594 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAGTACTTCAGCCACTCTGGT 0.473000 41 50 0 0 0.014410 0 0 KIAA1274 27143 broad.mit.edu 37 10 72289707 72289707 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:72289707C>T uc001jrd.4 + 3 632 c.351C>T c.(349-351)agC>agT p.S117S NM_014431 NP_055246 Q9ULE6 PALD_HUMAN Homo sapiens KIAA1274 (KIAA1274), mRNA. 117 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1) 36 CCGTGGGAAGCTGTGGGGCCC 0.642000 17 17 0 0 0.004007 0 0 WDR49 151790 broad.mit.edu 37 3 167217983 167217983 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:167217983C>T uc003fev.1 - 13 2237 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K WDR49_uc003feu.1_Missense_Mutation_p.E470K|WDR49_uc011bpd.1_Missense_Mutation_p.E610K|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 645 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GGACGCTCTTCCTCTGGTTCT 0.423000 113 97 0 0 0.014410 0 0 VEGFC 7424 broad.mit.edu 37 4 177608992 177608992 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:177608992G>A uc003ius.1 - 4 1224 c.794C>T c.(793-795)tCc>tTc p.S265F NM_005429 NP_005420 P49767 VEGFC_HUMAN Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA. 265 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AGCATCCGAGGAAAACATAAA 0.413000 44 46 0 0 0.014410 0 0 AL117485 0 broad.mit.edu 37 22 18844768 18844768 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:18844768G>A uc002zoe.3 + 3 c.2022G>A AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. GCCTCTGAGGGCAGCAGTGCA 0.562000 10 3 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9091108 9091108 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9091108G>A uc002mkp.3 - 0 911 c.707C>T c.(706-708)tCc>tTc p.S236F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 236 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 GTCAAGGAAGGAAGAATAAAG 0.463000 40 33 0 0 0.010818 0 0 PACRGL 133015 broad.mit.edu 37 4 20715058 20715058 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:20715058C>T uc010iei.1 + 8 895 c.649C>T c.(649-651)Cat>Tat p.H217Y PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.H169Y|PACRGL_uc011bxm.2_Missense_Mutation_p.H116Y|PACRGL_uc003gqa.3_Missense_Mutation_p.H71Y|PACRGL_uc010iek.3_Missense_Mutation_p.H169Y|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Missense_Mutation_p.H71Y NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA. 169 binding endometrium(2)|lung(7)|prostate(1) 10 CTTACAGGTCCATTCGGATGA 0.428000 21 31 0 0 0.013726 0 0 TRANK1 9881 broad.mit.edu 37 3 36872803 36872803 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:36872803C>T uc003cgj.3 - 20 8387 c.8139G>A c.(8137-8139)ggG>ggA p.G2713G NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2713 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTTTGAAGTTCCCAGCCCTGG 0.582000 11 11 0 0 0.010729 0 0 GJB6 10804 broad.mit.edu 37 13 20797386 20797386 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:20797386G>A uc001und.4 - 2 621 c.234C>T c.(232-234)gcC>gcT p.A78A GJB6_uc001umz.4_Silent_p.A78A|GJB6_uc001unb.4_Silent_p.A78A|GJB6_uc001unc.4_Silent_p.A78A|GJB6_uc001una.4_Silent_p.A78A|GJB6_uc021rhb.1_Silent_p.A78A NM_001110221 NP_006774 O95452 CXB6_HUMAN Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA. 78 cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) TCAGCTGGAGGGCCCACAGCC 0.572000 20 16 0 0 0.004007 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958672 26958672 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:26958672G>A uc002hbu.3 - 22 4227 c.4124C>T c.(4123-4125)tCt>tTt p.S1375F NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 1375 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) ACTCCAATCAGAGATAAGGCG 0.522000 18 18 0 0 0.006122 0 0 FIBIN 387758 broad.mit.edu 37 11 27016437 27016437 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:27016437G>A uc001mrd.3 + 0 810 c.364G>A c.(364-366)Gag>Aag p.E122K NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA. 122 Golgi apparatus|extracellular region breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CCTGCGGCGGGAGTCCCACCA 0.612000 20 17 0 0 0.010504 0 0 SPNS3 201305 broad.mit.edu 37 17 4337383 4337383 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:4337383C>T uc002fxt.3 + 0 165 c.121C>T c.(121-123)Ccg>Tcg p.P41S SPNS3_uc002fxu.3_5'UTR NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 41 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GAGCCTGCCCCCGTGGAGGGC 0.652000 30 34 0 0 0.010771 0 0 KRT28 162605 broad.mit.edu 37 17 38954492 38954492 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:38954492C>T uc002hvh.1 - 2 751 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN Homo sapiens keratin 28 (KRT28), mRNA. 229 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CCTACCTCTTCGTGGTTCTTT 0.463000 65 44 0 0 0.014410 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256445 24256445 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:24256445G>A uc003xdz.2 + 8 1041 c.821G>A c.(820-822)gGg>gAg p.G274E ADAMDEC1_uc010lub.2_Missense_Mutation_p.G195E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G195E NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 274 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TGGTCTGATGGGGATAAGATA 0.443000 41 20 0 0 0.012319 0 0 HPS4 89781 broad.mit.edu 37 22 26868811 26868811 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:26868811G>A uc003acl.3 - 4 1030 c.371C>T c.(370-372)tCc>tTc p.S124F HPS4_uc003aci.3_Missense_Mutation_p.S119F|HPS4_uc003acj.3_5'UTR|HPS4_uc003ack.3_5'UTR|HPS4_uc003acn.3_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.S124F|HPS4_uc003ach.3_5'Flank NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA. 124 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 ATAAGCTAGGGAAACAGGTCC 0.468000 Hermansky-Pudlak syndrome 73 52 0 0 0.014410 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213434904 213434904 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:213434904T>C uc010ptr.2 + 12 3074 c.2915T>C c.(2914-2916)gTt>gCt p.V972A RPS6KC1_uc001hkd.3_Missense_Mutation_p.V960A|RPS6KC1_uc010pts.2_Missense_Mutation_p.V760A|RPS6KC1_uc010ptt.2_Missense_Mutation_p.V760A|RPS6KC1_uc010ptu.2_Missense_Mutation_p.V791A|RPS6KC1_uc010ptv.2_Missense_Mutation_p.V507A|RPS6KC1_uc001hke.3_Missense_Mutation_p.V791A NM_012424 NP_036556 Q96S38 KS6C1_HUMAN Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA. 972 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TGGTTAGAGGTTGGAGCAATC 0.403000 14 428 0 0 0.014410 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218812 134218812 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:134218812C>T uc001lll.4 + 1 837 c.808C>T c.(808-810)Ccc>Tcc p.P270S PWWP2B_uc009ybe.3_Missense_Mutation_p.P270S NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 270 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GGTCAAGATCCCCTCCCGCGT 0.706000 9 5 0 0 0.001984 0 0 ZNF480 147657 broad.mit.edu 37 19 52825504 52825504 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:52825504G>A uc010ydl.2 + 4 1071 c.1001G>A c.(1000-1002)tGg>tAg p.W334* ZNF480_uc002pyv.3_Nonsense_Mutation_p.W257*|ZNF480_uc010ydm.2_Nonsense_Mutation_p.W291*|ZNF480_uc010epn.3_Nonsense_Mutation_p.W165*|AK097759_uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN Homo sapiens zinc finger protein 480 (ZNF480), mRNA. 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GCAAATCATTGGAGAATTTAT 0.388000 36 26 0 0 0.003954 0 0 FAM47C 442444 broad.mit.edu 37 X 37028690 37028690 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:37028690C>T uc004ddl.2 + 0 2259 c.2207C>T c.(2206-2208)tCc>tTc p.S736F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 736 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ACTGGAGTGTCCCATCTCCGC 0.637000 45 30 0 0 0.008361 0 0 STS 412 broad.mit.edu 37 X 7268244 7268244 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:7268244C>T uc004cry.4 + 9 1939 c.1694C>T c.(1693-1695)tCc>tTc p.S565F NM_000351 NP_000342 P08842 STS_HUMAN Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA. 565 female pregnancy|steroid catabolic process Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TGCTGTCCTTCCACCGGCCTG 0.562000 Ichthyosis 19 14 0 0 0.003163 0 0 UNC13C 440279 broad.mit.edu 37 15 54586243 54586243 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:54586243G>A uc021smr.1 + 8 3963 c.3963G>A c.(3961-3963)atG>atA p.M1321I UNC13C_uc021sms.1_Missense_Mutation_p.M1323I|UNC13C_uc002acl.3_Missense_Mutation_p.M153I NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1323 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G1321*(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) GTGGAGAAATGGATGTCTGGT 0.343000 117 90 0 0 0.014410 0 0 FZD10 11211 broad.mit.edu 37 12 130648761 130648761 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:130648761G>A uc001uii.3 + 0 1758 c.1274G>A c.(1273-1275)aGg>aAg p.R425K FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN Homo sapiens frizzled family receptor 10 (FZD10), mRNA. 425 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CACATCCGGAGGGTGATGAAG 0.622000 31 24 0 0 0.003330 0 0 CD86 942 broad.mit.edu 37 3 121774344 121774344 + Missense_Mutation SNP C T T rs141814734 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:121774344C>T uc003eet.3 + 0 136 c.8C>T c.(7-9)cCc>cTc p.P3L CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Missense_Mutation_p.P3L NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 3 T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AAAATGGATCCCCAGTGGTGA 0.458000 52 30 0 0 0.012213 0 0 FAM83B 222584 broad.mit.edu 37 6 54791187 54791187 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:54791187G>A uc003pck.3 + 2 579 c.463G>A c.(463-465)Gat>Aat p.D155N NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 155 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) TTTAGTGATGGATATATTTAC 0.308000 34 23 0 0 0.006320 0 0 KLHL26 55295 broad.mit.edu 37 19 18779689 18779689 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:18779689G>A uc002njz.1 + 2 1509 c.1482G>A c.(1480-1482)atG>atA p.M494I NM_018316 NP_060786 Q53HC5 KLH26_HUMAN Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA. 494 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGGCGCCCATGAGCGAACCCC 0.672000 23 28 0 0 0.009535 0 0 OS9 10956 broad.mit.edu 37 12 58111979 58111979 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:58111979C>T uc001spj.3 + 10 1392 c.1185C>T c.(1183-1185)gtC>gtT p.V395V OS9_uc010srx.2_Silent_p.V189V|OS9_uc001spk.3_Silent_p.V395V|OS9_uc001spl.3_Silent_p.V395V|OS9_uc001spm.3_Silent_p.V395V|OS9_uc001spn.3_Silent_p.V396V|OS9_uc010sry.2_Silent_p.V363V|OS9_uc010srz.2_Silent_p.V336V NM_006812 NP_006803 Q13438 OS9_HUMAN Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA. 395 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CTGCAGAAGTCCCTCAGAGGG 0.532000 17 16 0 0 0.004007 0 0 SERPINE1 5054 broad.mit.edu 37 7 100780314 100780314 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:100780314G>A uc003uxt.3 + 7 1268 c.1120G>A c.(1120-1122)Gag>Aag p.E374K SERPINE1_uc011kkj.2_Missense_Mutation_p.E359K|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA. 374 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GGCCCCCGAGGAGATCATCAT 0.592000 54 46 0 0 0.014410 0 0 OR2M7 391196 broad.mit.edu 37 1 248487244 248487244 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:248487244G>A uc010pzk.2 - 0 627 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V208I(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGCAACAGGGAAAACAAGCA 0.418000 15 434 0 0 0.014410 0 0 MLL2 8085 broad.mit.edu 37 12 49448351 49448351 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:49448351G>A uc001rta.4 - 2 360 c.360C>T c.(358-360)ttC>ttT p.F120F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 120 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGCCCTCAGGGAAACCAATCT 0.597000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 8 5 0 0 0.003080 0 0 SOX3 6658 broad.mit.edu 37 X 139586875 139586875 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:139586875C>T uc004fbd.1 - 0 351 c.351G>A c.(349-351)gcG>gcA p.A117A NM_005634 NP_005625 P41225 SOX3_HUMAN Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA. 117 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) CGCCCGAGTTCGCGCCGCCGG 0.706000 14 6 0 0 0.001984 0 0 MARS2 92935 broad.mit.edu 37 2 198570890 198570890 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:198570890C>T uc002uuq.3 + 0 863 c.761C>T c.(760-762)tCc>tTc p.S254F BC021693_uc002uup.3_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA. 254 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CCCGACCTGTCCGTGTCTCGC 0.607000 28 24 0 0 0.005443 0 0 SEC16B 89866 broad.mit.edu 37 1 177908848 177908848 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:177908848C>T uc001glj.1 - 22 3061 c.2195G>A c.(2194-2196)gGa>gAa p.G732E SEC16B_uc001glk.1_Missense_Mutation_p.G408E|SEC16B_uc009wwy.1_Missense_Mutation_p.G286E|SEC16B_uc001glh.1_Missense_Mutation_p.G390E|SEC16B_uc001gli.1_Missense_Mutation_p.G731E|SEC16B_uc009wwz.1_Missense_Mutation_p.G390E NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 731 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGTTGTTGTTCCTCCGGCTCC 0.418000 1 14 0 0 0.004990 0 0 ERBB2 2064 broad.mit.edu 37 17 37865597 37865597 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:37865597C>T uc002hso.3 + 3 704 c.466C>T c.(466-468)Cag>Tag p.Q156* ERBB2_uc010cwa.3_Nonsense_Mutation_p.Q141*|ERBB2_uc002hsm.3_Nonsense_Mutation_p.Q126*|ERBB2_uc002hsp.3_5'UTR|ERBB2_uc010cwb.3_Nonsense_Mutation_p.Q156*|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Nonsense_Mutation_p.Q126*|ERBB2_uc002hsn.1_Nonsense_Mutation_p.Q156* NM_004448 NP_001005862 P04626 ERBB2_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. 156 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GGTCTTGATCCAGCGGAACCC 0.552000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 45 30 0 0 0.009535 0 0 KSR2 283455 broad.mit.edu 37 12 118199276 118199276 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:118199276C>T uc001two.2 - 3 494 c.439G>A c.(439-441)Ggg>Agg p.G147R NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 176 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCTCCTTCCCCGTCTCTGTC 0.597000 45 33 0 0 0.004878 0 0 SAGE1 55511 broad.mit.edu 37 X 134992691 134992691 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:134992691C>T uc004ezh.3 + 15 2149 c.1982C>T c.(1981-1983)tCa>tTa p.S661L SAGE1_uc010nry.1_Missense_Mutation_p.S630L|SAGE1_uc011mvv.2_Missense_Mutation_p.S285L NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 661 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GCTGGAATTTCATCCACGATT 0.438000 77 136 0 0 0.014410 0 0 ANO3 63982 broad.mit.edu 37 11 26620405 26620405 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:26620405G>A uc001mqt.4 + 16 1676 c.1531_splice c.e16-1 p.E511_splice ANO3_uc010rdr.2_Splice_Site_p.E495_splice|ANO3_uc010rds.2_Splice_Site_p.E350_splice|ANO3_uc010rdt.2_Splice_Site_p.E365_splice NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 511 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCTCTCATAGGAAACACTTCG 0.383000 16 12 0 0 0.003163 0 0 PCDH1 5097 broad.mit.edu 37 5 141248533 141248533 + Silent SNP G A A rs145624062 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:141248533G>A uc003llp.3 - 1 621 c.504C>T c.(502-504)ttC>ttT p.F168F PCDH1_uc011dbf.2_Silent_p.F146F|PCDH1_uc003llq.3_Silent_p.F168F NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 168 Cadherin 1. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTGGTGAGGCGAAGTTGGGTG 0.552000 97 73 0 0 0.014410 0 0 OR52I2 143502 broad.mit.edu 37 11 4608812 4608812 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4608812G>A uc010qyh.2 + 0 792 c.770G>A c.(769-771)gGt>gAt p.G257D NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAGTATTTGGTCTCTCCTCA 0.473000 67 32 0 0 0.014410 0 0 FLRT2 23768 broad.mit.edu 37 14 86088753 86088753 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:86088753C>T uc021rxf.1 + 0 895 c.895C>T c.(895-897)Ctc>Ttc p.L299F FLRT2_uc001xvr.3_Missense_Mutation_p.L299F|FLRT2_uc010atd.3_Missense_Mutation_p.L299F NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 299 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTTTGATAATCTCTCCAACCT 0.453000 120 94 0 0 0.014410 0 0 MLLT3 4300 broad.mit.edu 37 9 20414405 20414405 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:20414405G>A uc003zoe.2 - 4 698 c.439C>T c.(439-441)Cat>Tat p.H147Y MLLT3_uc011lne.1_Missense_Mutation_p.H115Y|MLLT3_uc011lnf.1_Missense_Mutation_p.H144Y|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.H147Y(2) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ctgctgGTATGAATACTCCTA 0.488000 T MLL ALL 22 11 0 0 0.008291 0 0 ZNF862 643641 broad.mit.edu 37 7 149545301 149545301 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:149545301C>T uc010lpn.3 + 3 911 c.719C>T c.(718-720)cCc>cTc p.P240L NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GCAGATTGCCCCATATTCTAC 0.617000 21 15 0 0 0.003163 0 0 SALL3 27164 broad.mit.edu 37 18 76752241 76752241 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:76752241G>A uc002lmt.3 + 1 250 c.250G>A c.(250-252)Gag>Aag p.E84K SALL3_uc010dra.3_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GATCGTGCACGAGGACGCGCC 0.721000 9 9 0 0 0.008291 0 0 ITGB4 3691 broad.mit.edu 37 17 73727450 73727450 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:73727450G>A uc002jpg.3 + 10 1402 c.1215_splice c.e10+1 p.V405_splice ITGB4_uc002jph.3_Splice_Site_p.V405_splice|ITGB4_uc010dgo.3_Splice_Site_p.V405_splice|ITGB4_uc002jpi.4_Splice_Site_p.V405_splice|ITGB4_uc010dgp.1_Splice_Site_p.V405_splice|ITGB4_uc002jpj.3_Splice_Site_p.V405_splice|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 405 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGGGAAGTGGTACGCCTCTG 0.642000 31 20 0 0 0.003954 0 0 OGT 8473 broad.mit.edu 37 X 70784462 70784462 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:70784462G>A uc004eaa.2 + 18 2686 c.2448G>A c.(2446-2448)aaG>aaA p.K816K BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.K806K|OGT_uc004eac.3_Silent_p.K677K|OGT_uc004ead.3_Silent_p.K435K NM_181672 NP_858058 O15294 OGT1_HUMAN Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA. 816 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction MLL5-L complex|cytosol enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding p.R815C(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TCAACAATAAGGCTGCAACTG 0.373000 23 11 0 0 0.001855 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793332 65793332 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:65793332G>A uc001ogt.3 - 0 657 c.519C>T c.(517-519)tcC>tcT p.S173S NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA. 173 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CACCATGGTGGGAAGCCTCAC 0.577000 19 26 0 0 0.009535 0 0 PTCD2 79810 broad.mit.edu 37 5 71622474 71622474 + Missense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:71622474C>A uc003kcb.3 + 2 266 c.256C>A c.(256-258)Cag>Aag p.Q86K PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA. 86 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) GAAACTGACCCAGAACAAGCT 0.433000 59 54 1.54043e-34 2.09668e-34 0.014410 1 0 HSF5 124535 broad.mit.edu 37 17 56557472 56557472 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:56557472C>T uc002iwi.1 - 1 831 c.707G>A c.(706-708)gGa>gAa p.G236E NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 236 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGATGCATTCCAAGGGAGTT 0.473000 47 61 0 0 0.014410 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2868886 2868886 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:2868886C>T uc010ckd.3 + 7 635 c.545C>T c.(544-546)tCc>tTc p.S182F RAP1GAP2_uc010cke.3_Missense_Mutation_p.S167F NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 182 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TTGATCCTGTCCGTCAAGTGC 0.527000 8 11 0 0 0.002450 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973570 64973570 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:64973570G>A uc001jmn.3 - 7 2657 c.2357C>T c.(2356-2358)cCa>cTa p.P786L JMJD1C_uc001jml.3_Missense_Mutation_p.P567L|JMJD1C_uc001jmm.3_Missense_Mutation_p.P498L|JMJD1C_uc010qiq.2_Missense_Mutation_p.P604L|JMJD1C_uc009xpi.3_Missense_Mutation_p.P604L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.P498L NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 786 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AGCATGGTGTGGACCACTAGT 0.498000 10 16 0 0 0.004007 0 0 NFASC 23114 broad.mit.edu 37 1 204943867 204943867 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:204943867C>T uc010prc.2 + 12 1704 c.175C>T c.(175-177)Cgc>Tgc p.R59C NFASC_uc001hbh.3_Missense_Mutation_p.R492C|NFASC_uc010pqz.2_Missense_Mutation_p.R486C|NFASC_uc001hbj.3_Missense_Mutation_p.R492C|NFASC_uc010pra.2_Missense_Mutation_p.R503C|NFASC_uc001hbi.3_Missense_Mutation_p.R503C|NFASC_uc010prb.2_Missense_Mutation_p.R503C|NFASC_uc001hbk.1_Missense_Mutation_p.R313C O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 492 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.R492S(2)|p.R503C(1)|p.R503S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TAAGATGATCCGCAAAGAGGA 0.507000 7 181 0 0 0.014410 0 0 CTNNA2 1496 broad.mit.edu 37 2 80085165 80085165 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:80085165G>A uc010ysh.2 + 2 330 c.325G>A c.(325-327)Gag>Aag p.E109K CTNNA2_uc010yse.2_Missense_Mutation_p.E109K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E109K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E109K NM_004389 NP_004380 P26232 CTNA2_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA. 109 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CGCCTCCTCCGAGTTTGCAGA 0.582000 69 63 0 0 0.014410 0 0 ARID5B 84159 broad.mit.edu 37 10 63852711 63852711 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:63852711C>T uc001jlt.2 + 9 3945 c.3489C>T c.(3487-3489)taC>taT p.Y1163Y ARID5B_uc001jlu.2_Silent_p.Y920Y NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 1163 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) ACAGCATTTACCCTTTAGCTG 0.488000 56 42 0 0 0.006999 0 0 KRT6B 3854 broad.mit.edu 37 12 52845376 52845376 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52845376C>T uc001sak.3 - 0 535 c.487G>A c.(487-489)Gag>Aag p.E163K NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 163 Coil 1A.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton p.E162*(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TGCTCACGCTCCTCGGCCCGC 0.607000 58 12 0 0 0.003330 0 0 ANAPC1 64682 broad.mit.edu 37 2 112620093 112620093 + Nonsense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:112620093T>A uc002thi.3 - 9 1382 c.1135A>T c.(1135-1137)Aag>Tag p.K379* NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 379 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CTATGTCTCTTTGGAGACTGA 0.413000 13 4 0 0 0.001984 0 0 YSK4 80122 broad.mit.edu 37 2 135744319 135744319 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:135744319C>T uc002tue.1 - 6 2154 c.2123G>A c.(2122-2124)aGg>aAg p.R708K YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R595K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.R436K|YSK4_uc002tui.4_Missense_Mutation_p.R725K NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 708 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTGCTCTTCCTCTCACTGTG 0.393000 78 64 0 0 0.014410 0 0 C16orf7 9605 broad.mit.edu 37 16 89774838 89774838 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:89774838T>A uc002fom.1 - 13 1924 c.1799A>T c.(1798-1800)gAg>gTg p.E600V C16orf7_uc002fol.1_Missense_Mutation_p.E530V NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA. 600 VPS9. ATP synthesis coupled proton transport GTPase activator activity|transporter activity breast(1)|lung(3)|ovary(1) 5 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGTCTACCCCTCGTGGATGAA 0.647000 3 3 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179413538 179413538 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179413538C>T uc021vsy.1 - 287 85336 c.85111G>A c.(85111-85113)Gct>Act p.A28371T MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A22066T|TTN_uc021vta.1_Missense_Mutation_p.A21999T|TTN_uc021vtb.1_Missense_Mutation_p.A21874T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29298 Fibronectin type-III 106. 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) CTGGCCCCAGCTCTAACAACA 0.478000 27 34 0 0 0.013726 0 0 IL17D 53342 broad.mit.edu 37 13 21295856 21295856 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:21295856C>T uc001unm.3 + 2 480 c.372C>T c.(370-372)ttC>ttT p.F124F NM_138284 NP_612141 Q8TAD2 IL17D_HUMAN Homo sapiens interleukin 17D (IL17D), mRNA. 124 inflammatory response extracellular space cytokine activity endometrium(1)|skin(1) 2 all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414) CCGGGCTGTTCGGCGAGGAGG 0.706000 34 20 0 0 0.010504 0 0 KRT80 144501 broad.mit.edu 37 12 52566020 52566020 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52566020G>A uc001rzw.3 - 4 1296 c.1245C>T c.(1243-1245)atC>atT p.I415I KRT80_uc001rzy.3_Silent_p.I380I|KRT80_uc001rzx.3_Silent_p.I380I NM_182507 NP_872313 Q6KB66 K2C80_HUMAN Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA. 380 Tail. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TGTAGGTGGCGATCTCGATGT 0.667000 52 35 0 0 0.005524 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41054941 41054941 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:41054941C>T uc003jmj.4 - 11 1524 c.1034_splice c.e11-1 p.E345_splice HEATR7B2_uc003jmi.4_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 345 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TCAACCTGGGCTCTGAAAGAC 0.378000 29 25 0 0 0.008361 0 0 ADCY1 107 broad.mit.edu 37 7 45719389 45719389 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:45719389C>T uc003tne.4 + 10 1998 c.1980C>T c.(1978-1980)gtC>gtT p.V660V NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 660 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCACCCGGGTCCAGGTATGTG 0.552000 42 23 0 0 0.005443 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911037 230911037 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:230911037C>T uc002vqd.2 - 3 1264 c.805G>A c.(805-807)Gat>Aat p.D269N FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D269N|SLC16A14_uc002vqf.3_Missense_Mutation_p.D269N NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 269 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) CCGGCCTGATCGGGGCACTCC 0.577000 58 47 0 0 0.014410 0 0 SLC26A3 1811 broad.mit.edu 37 7 107420173 107420173 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:107420173C>T uc003ver.2 - 11 1558 c.1347G>A c.(1345-1347)aaG>aaA p.K449K SLC26A3_uc003ves.2_Silent_p.K414K NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 449 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TCAGCATTCCCTTTAAGTTTC 0.383000 18 35 0 0 0.007835 0 0 GPR155 151556 broad.mit.edu 37 2 175326182 175326182 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:175326182C>T uc002uit.3 - 9 1899 c.1508G>A c.(1507-1509)gGa>gAa p.G503E GPR155_uc002uiu.3_Missense_Mutation_p.G503E|GPR155_uc002uiv.3_Missense_Mutation_p.G503E|GPR155_uc010fqs.3_Missense_Mutation_p.G475E NM_001033045 NP_689742 Q7Z3F1 GP155_HUMAN Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA. 503 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 ATTGTGTTTTCCAGTTATCAA 0.373000 57 63 0 0 0.014410 0 0 KDM6A 7403 broad.mit.edu 37 X 44950036 44950036 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:44950036C>T uc011mkz.2 + 26 4336 c.3961C>T c.(3961-3963)Ccc>Tcc p.P1321S KDM6A_uc004dge.4_Missense_Mutation_p.P1269S|KDM6A_uc011mla.2_Missense_Mutation_p.P1224S|KDM6A_uc011mlb.2_Missense_Mutation_p.P1276S|KDM6A_uc011mlc.2_Missense_Mutation_p.P973S|KDM6A_uc022bvj.1_Missense_Mutation_p.P1190S|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.P908S NM_021140 NP_066963 O15550 KDM6A_HUMAN Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA. 1269 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GTCAATAGTACCCATGGTTCA 0.368000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 50 38 0 0 0.006230 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881742 108881742 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:108881742G>A uc010ywo.2 + 6 850 c.850G>A c.(850-852)Gaa>Aaa p.E284K NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA. 284 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCAAAATGAAGAATTTGACAA 0.473000 53 43 0 0 0.014410 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141958 133141959 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:133141958_133141959CC>TT uc003ytj.3 - 14 2394_2395 c.2169_2170GG>AA c.(2167-2172)ggggga>ggAAga p.G724R KCNQ3_uc003yti.3_Missense_Mutation_p.G604R|KCNQ3_uc010mdt.3_Missense_Mutation_p.G712R NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 724 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) GAACTGGGTCCCCCTCGGGGCA 0.579000 20 18 0 0 0.004672 0 0 GALNT4 8693 broad.mit.edu 37 12 89917457 89917457 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:89917457G>A uc001tbd.3 - 0 1127 c.870C>T c.(868-870)ccC>ccT p.P290P GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.P287P|GALNT4_uc010suo.2_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA. 290 carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1) 14 TTTCCTGTTTGGGGACAGAAT 0.443000 31 26 0 0 0.005443 0 0 ZNF836 162962 broad.mit.edu 37 19 52663788 52663789 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:52663788_52663789GG>AA uc010ydj.2 - 3 593_594 c.71_72CC>TT c.(70-72)tcc>tTT p.S24F ZNF836_uc010ydi.2_Missense_Mutation_p.S24F NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN Homo sapiens zinc finger protein 836 (ZNF836), mRNA. 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CAGGGTCCAGGGATTTCCACTC 0.441000 68 64 0 0 0.004672 0 0 SKA1 220134 broad.mit.edu 37 18 47918471 47918471 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:47918471C>T uc002let.3 + 6 806 c.622C>T c.(622-624)Cgt>Tgt p.R208C SKA1_uc002leu.3_Missense_Mutation_p.R208C|SKA1_uc010xdl.2_Missense_Mutation_p.R162C NM_145060 NP_659497 Q96BD8 SKA1_HUMAN Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA. 208 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 ATTTTTAGGTCGTTATTTTAT 0.328000 42 36 0 0 0.007835 0 0 SGK196 84197 broad.mit.edu 37 8 42977840 42977840 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:42977840C>T uc003xpw.2 + 4 1132 c.873C>T c.(871-873)ttC>ttT p.F291F NM_032237 NP_115613 Q9H5K3 SG196_HUMAN Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA. 291 Protein kinase. integral to membrane ATP binding|protein kinase activity TCTCCAGTTTCCTTCTGGGGC 0.483000 39 24 0 0 0.003330 0 0 UGT2B11 10720 broad.mit.edu 37 4 70070152 70070152 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:70070152G>A uc003heh.3 - 4 1315 c.1306C>T c.(1306-1308)Cct>Tct p.P436S AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 436 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 ACTCACAAAGGATCATTAATT 0.403000 64 42 0 0 0.014410 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65209875 65209875 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:65209875C>T uc001xhp.2 + 16 3516 c.3477C>T c.(3475-3477)ccC>ccT p.P1159P PLEKHG3_uc001xhn.1_Silent_p.P982P|PLEKHG3_uc001xho.1_Silent_p.P1038P|PLEKHG3_uc010aqh.1_Silent_p.P580P|PLEKHG3_uc001xhq.1_Silent_p.P543P NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 1038 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CCCGGAGCCCCCTCAGCCCCA 0.701000 53 43 0 0 0.014410 0 0 OR5I1 10798 broad.mit.edu 37 11 55703736 55703736 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:55703736C>T uc010ris.2 - 0 141 c.141G>A c.(139-141)ttG>ttA p.L47L NM_006637 NP_006628 Q13606 OR5I1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCAACAGCATCAATCCAATGT 0.388000 14 12 0 0 0.001855 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326770 52326770 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:52326770C>T uc003ddo.3 + 4 1296 c.1200C>T c.(1198-1200)ggC>ggT p.G400G GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Silent_p.G64G NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA. 400 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GGGGAAGGGGCCCAGTCTGCC 0.647000 22 25 0 0 0.004656 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468448 72468448 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:72468448G>A uc001jrg.3 + 3 784 c.784G>A c.(784-786)Gag>Aag p.E262K ADAMTS14_uc001jrh.3_Missense_Mutation_p.E262K NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 262 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CTACAGCATCGAGGTGCTGCT 0.612000 51 42 0 0 0.014410 0 0 ELAC2 60528 broad.mit.edu 37 17 12908385 12908385 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:12908385G>A uc002gnz.4 - 10 1021 c.904C>T c.(904-906)Cct>Tct p.P302S ELAC2_uc002gnv.4_5'Flank|ELAC2_uc002gnx.4_Missense_Mutation_p.P62S|ELAC2_uc010vvo.2_Missense_Mutation_p.P125S|ELAC2_uc010vvp.2_Missense_Mutation_p.P283S|ELAC2_uc010vvq.2_Missense_Mutation_p.P302S|ELAC2_uc010vvr.2_Missense_Mutation_p.P262S NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 302 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GCAGCACCAGGATCTGGAGGA 0.502000 71 62 0 0 0.014410 0 0 ODZ1 10178 broad.mit.edu 37 X 123554651 123554651 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:123554651C>T uc010nqy.3 - 24 4556 c.4492G>A c.(4492-4494)Gat>Aat p.D1498N ODZ1_uc011muj.2_Missense_Mutation_p.D1497N|ODZ1_uc004euj.3_Missense_Mutation_p.D1491N NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1491 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 ATCTTTGCATCTTTGGCATAG 0.453000 98 37 0 0 0.008740 0 0 DACT3 147906 broad.mit.edu 37 19 47151904 47151904 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:47151904C>T uc010ekq.3 - 3 1799 c.1725G>A c.(1723-1725)tgG>tgA p.W575* NM_145056 NP_659493 Q96B18 DACT3_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA. 575 lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) GCTGCTGCGGCCACACGAGGC 0.692000 29 33 0 0 0.009535 0 0 IGHE 3497 broad.mit.edu 37 14 106067385 106067385 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:106067385C>T uc001yrw.1 - 2 528 c.516G>A c.(514-516)gtG>gtA p.V172V abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.V119V|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; TGGACAAGTCCACGTCCATGA 0.627000 8 5 0 0 0.000602 0 0 NLRP13 126204 broad.mit.edu 37 19 56443675 56443675 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56443675C>T uc010ygg.2 - 0 28 c.3G>A c.(1-3)atG>atA p.M1I NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 1 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAGAAAAGTTCATCTTGCCCA 0.478000 19 21 0 0 0.012319 0 0 SEC31A 22872 broad.mit.edu 37 4 83772734 83772734 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:83772734G>A uc003hnh.3 - 18 2358 c.2178C>T c.(2176-2178)atC>atT p.I726I SEC31A_uc003hne.3_Silent_p.I459I|SEC31A_uc011ccl.2_Silent_p.I687I|SEC31A_uc003hnl.3_Silent_p.I687I|SEC31A_uc003hng.3_Silent_p.I726I|SEC31A_uc011ccm.2_Silent_p.I721I|SEC31A_uc003hni.3_Silent_p.I726I|SEC31A_uc003hnk.3_Silent_p.I687I|SEC31A_uc003hnf.3_Silent_p.I726I|SEC31A_uc011ccn.2_Silent_p.I726I|SEC31A_uc003hnm.3_Silent_p.I726I|SEC31A_uc003hnn.2_Silent_p.I726I NM_014933 NP_055748 O94979 SC31A_HUMAN Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA. 726 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) CTTTTCGCAGGATGACAACTT 0.413000 24 16 0 0 0.004990 0 0 SARDH 1757 broad.mit.edu 37 9 136584065 136584065 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:136584065C>T uc004cep.4 - 6 1149 c.1015G>A c.(1015-1017)Gag>Aag p.E339K SARDH_uc004ceo.3_Missense_Mutation_p.E339K|SARDH_uc011mdo.2_Missense_Mutation_p.E171K|SARDH_uc011mdn.2_Missense_Mutation_p.E339K NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 339 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CTTACCTCCTCCCAAAAGATG 0.572000 3 18 0 0 0.006122 0 0 KBTBD7 84078 broad.mit.edu 37 13 41766769 41766769 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:41766769C>T uc001uxw.1 - 0 1934 c.1625G>A c.(1624-1626)gGa>gAa p.G542E AK056182_uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA. 542 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) CCTCCATTCTCCCCTAGCTGG 0.418000 54 49 0 0 0.014410 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722348 58722348 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:58722348A>G uc001nnh.2 + 4 435 c.385A>G c.(385-387)Aaa>Gaa p.K129E GLYATL1_uc001nnf.3_Missense_Mutation_p.K98E|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.K98E|GLYATL1_uc001nnj.2_Missense_Mutation_p.K98E NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 98 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CGTAAACTGGAAACAGAGACT 0.398000 14 6 0 0 0.003080 0 0 PTPRH 5794 broad.mit.edu 37 19 55693499 55693499 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:55693499C>T uc002qjq.3 - 18 3156 c.3083G>A c.(3082-3084)gGa>gAa p.G1028E PTPRH_uc010esv.3_Missense_Mutation_p.G850E|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 1028 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AATGAGGGTTCCTGTGCGACC 0.612000 37 28 0 0 0.010818 0 0 ORM1 5004 broad.mit.edu 37 9 117085966 117085966 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:117085966C>T uc004bik.4 + 1 249 c.138C>T c.(136-138)atC>atT p.I46I ORM1_uc011lxo.2_Silent_p.I46I NM_000607 NP_000598 P02763 A1AG1_HUMAN Homo sapiens orosomucoid 1 (ORM1), mRNA. 46 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) GGTTTTATATCGCATCGGCCT 0.507000 37 28 0 0 0.008740 0 0 SPAG17 200162 broad.mit.edu 37 1 118624248 118624248 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:118624248C>T uc001ehk.2 - 13 1848 c.1780G>A c.(1780-1782)Gaa>Aaa p.E594K SPAG17_uc021oss.1_5'Flank NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 594 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CGTTCTACTTCATTCCAGCTC 0.458000 4 55 0 0 0.014410 0 0 ABCG1 9619 broad.mit.edu 37 21 43711739 43711739 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:43711739G>A uc011aev.2 + 12 1769 c.1695G>A c.(1693-1695)ctG>ctA p.L565L ABCG1_uc002zam.3_Silent_p.L520L|ABCG1_uc002zan.3_Silent_p.L544L|ABCG1_uc002zao.3_Silent_p.L539L|ABCG1_uc002zap.3_Silent_p.L542L|ABCG1_uc002zaq.3_Silent_p.L554L|ABCG1_uc002zar.3_Silent_p.L553L|ABCG1_uc010gpb.2_Missense_Mutation_p.D195N NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 554 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TGGGCCTGCTGATCGGAGCCG 0.667000 12 6 0 0 0.001168 0 0 PLEKHA2 59339 broad.mit.edu 37 8 38808425 38808425 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:38808425C>T uc003xmi.4 + 5 637 c.403C>T c.(403-405)Cct>Tct p.P135S PLEKHA2_uc011lce.2_Missense_Mutation_p.P85S NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA. 135 positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) CTTAGCAGCTCCTCCAGCCCT 0.577000 24 18 0 0 0.006122 0 0 MAGED1 9500 broad.mit.edu 37 X 51641707 51641707 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:51641707G>A uc004dpn.3 + 10 2170 c.1980G>A c.(1978-1980)agG>agA p.R660R MAGED1_uc004dpm.3_Silent_p.R604R|MAGED1_uc004dpo.3_Silent_p.R604R NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 604 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GAGATCTAAGGAAACTTCTCA 0.448000 Multiple Myeloma(10;0.10) 18 23 0 0 0.007291 0 0 RHPN1 114822 broad.mit.edu 37 8 144463858 144463858 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:144463858C>T uc003yyb.3 + 12 1738 c.1605C>T c.(1603-1605)atC>atT p.I535I NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA. 560 signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CTGTCCTCATCGCTGCCGTCA 0.701000 9 5 0 0 0.001168 0 0 OR2C1 4993 broad.mit.edu 37 16 3406010 3406010 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3406010G>A uc002cuw.1 + 0 122 c.70G>A c.(70-72)Gag>Aag p.E24K NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TCCCCAGCTGGAGATGATCTT 0.498000 39 42 0 0 0.010771 0 0 YIPF1 54432 broad.mit.edu 37 1 54332570 54332570 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:54332570G>A uc001cvu.3 - 7 880 c.509C>T c.(508-510)gCc>gTc p.A170V YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA. 170 integral to membrane|transport vesicle endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 CCAGGCATAGGCATAGATGAT 0.453000 2 55 0 0 0.014410 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327526 28327526 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:28327526C>T uc010jrc.3 + 2 496 c.163C>T c.(163-165)Ccg>Tcg p.P55S ZKSCAN3_uc003nle.4_Missense_Mutation_p.P55S|ZKSCAN3_uc003nlf.4_Intron NM_001242894 NP_001229823 Q9BRR0 ZKSC3_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA. 55 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 CTTCCGCTACCCGGAGGCTGC 0.637000 84 37 0 0 0.004289 0 0 TNN 63923 broad.mit.edu 37 1 175046622 175046622 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:175046622C>T uc001gkl.1 + 1 181 c.68C>T c.(67-69)tCg>tTg p.S23L TNN_uc010pmx.1_Missense_Mutation_p.S23L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 23 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.S23L(4)|p.A22S(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTGGTGGCTTCGGCCCCAGCC 0.592000 4 100 0 0 0.014410 0 0 FRMD8 83786 broad.mit.edu 37 11 65172502 65172502 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:65172502G>A uc001odu.4 + 9 1431 c.1239G>A c.(1237-1239)cgG>cgA p.R413R FRMD8_uc009yqj.3_Silent_p.R357R|FRMD8_uc010rof.2_Silent_p.R379R NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN Homo sapiens FERM domain containing 8 (FRMD8), mRNA. 413 cytoskeleton binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 TGTCCAGCCGGATCCAGCATC 0.652000 31 22 0 0 0.005443 0 0 UNC5C 8633 broad.mit.edu 37 4 96140146 96140146 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:96140146C>T uc003hto.3 - 8 1972 c.1619G>A c.(1618-1620)gGa>gAa p.G540E UNC5C_uc010ilc.2_Missense_Mutation_p.G559E|UNC5C_uc003htq.3_Missense_Mutation_p.G559E NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 540 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AAGGTGACCTCCCAGCGAGTT 0.443000 44 33 0 0 0.004878 0 0 EFCAB6 64800 broad.mit.edu 37 22 44022392 44022392 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:44022392C>T uc003bdy.2 - 19 2714 c.2400G>A c.(2398-2400)cgG>cgA p.R800R EFCAB6_uc003bdz.2_Silent_p.R648R|EFCAB6_uc010gzi.2_Silent_p.R648R|EFCAB6_uc010gzj.1_Silent_p.R98R|EFCAB6_uc010gzk.1_Non-coding_Transcript NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 800 R -> W (in dbSNP:rs6006514). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTTGAAATTCCCGAAAATTTA 0.433000 21 22 0 0 0.010504 0 0 LUZP2 338645 broad.mit.edu 37 11 24759789 24759789 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:24759789G>A uc001mqs.3 + 3 548 c.274G>A c.(274-276)Gag>Aag p.E92K LUZP2_uc009yif.3_Missense_Mutation_p.E6K|LUZP2_uc009yig.3_Missense_Mutation_p.E92K NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 92 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GTCTCTTCAGGAGGCCCTGCA 0.368000 24 27 0 0 0.010818 0 0 FBXO47 494188 broad.mit.edu 37 17 37093532 37093532 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:37093532C>T uc002hrc.2 - 10 1455 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN Homo sapiens F-box protein 47 (FBXO47), mRNA. 419 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 CTGTCATCTTCATCACGGTCT 0.328000 21 17 0 0 0.007413 0 0 ODZ1 10178 broad.mit.edu 37 X 123871003 123871003 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:123871003G>A uc010nqy.3 - 3 644 c.580C>T c.(580-582)Cca>Tca p.P194S ODZ1_uc011muj.2_Missense_Mutation_p.P194S|ODZ1_uc004euj.3_Missense_Mutation_p.P194S NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 194 Poly-Pro.|Teneurin N-terminal. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GGTGGCGGTGGGAGGGGTCTG 0.567000 13 41 0 0 0.006230 0 0 SELE 6401 broad.mit.edu 37 1 169699697 169699697 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:169699697C>T uc001ggm.4 - 4 748 c.591G>A c.(589-591)ctG>ctA p.L197L C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 197 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TGAAGTTTCCCAGTGGGTGAC 0.493000 1 108 0 0 0.014410 0 0 UNC5D 137970 broad.mit.edu 37 8 35406841 35406841 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:35406841C>T uc003xjr.2 + 1 463 c.135C>T c.(133-135)tcC>tcT p.S45S UNC5D_uc003xjs.2_Silent_p.S40S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 45 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTCCCGAATCCATCCCATCAG 0.473000 35 32 0 0 0.003271 0 0 DNAI2 64446 broad.mit.edu 37 17 72308292 72308292 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:72308292G>A uc002jkf.3 + 11 1755 c.1645G>A c.(1645-1647)Gag>Aag p.E549K DNAI2_uc002jkg.3_Missense_Mutation_p.E537K|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 549 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAGCAAGGCCGAGGAGGAGTT 0.612000 Kartagener syndrome 7 9 0 0 0.006214 0 0 PSD4 23550 broad.mit.edu 37 2 113940135 113940135 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:113940135G>A uc002tjc.3 + 1 285 c.102G>A c.(100-102)agG>agA p.R34R PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.R33R|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 34 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGTGCCCAAGGGAAACGTGCA 0.587000 25 29 0 0 0.013726 0 0 CNDP1 84735 broad.mit.edu 37 18 72228156 72228156 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:72228156G>A uc002llq.3 + 3 580 c.369G>A c.(367-369)acG>acA p.T123T BC047599_uc002llr.3_5'Flank NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. 123 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity p.T123M(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) GCGATCCCACGAAAGGCACCG 0.577000 57 50 0 0 0.014410 0 0 USP29 57663 broad.mit.edu 37 19 57642176 57642176 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:57642176C>T uc002qny.3 + 3 2489 c.2133C>T c.(2131-2133)tcC>tcT p.S711S USP29_uc021vci.1_Silent_p.S711S NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 711 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCACTGAGTCCACCAATGGCT 0.423000 30 17 0 0 0.006122 0 0 LOC146880 146880 broad.mit.edu 37 17 62750150 62750150 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:62750150G>A uc010wqc.2 - 9 c.2208C>T Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA. TGGCATCCAGGATAACCAGAA 0.378000 162 134 0 0 0.014410 0 0 USP49 25862 broad.mit.edu 37 6 41774027 41774027 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:41774027G>A uc003ori.3 - 3 917 c.695C>T c.(694-696)tCa>tTa p.S232L NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA. 232 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CACTCTGCGTGAGGTAGGGAg 0.736000 20 10 0 0 0.006214 0 0 ZNF382 84911 broad.mit.edu 37 19 37118187 37118187 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:37118187C>T uc002oek.3 + 4 1501 c.1388C>T c.(1387-1389)cCc>cTc p.P463L ZNF382_uc010efa.3_Missense_Mutation_p.P414L|ZNF382_uc010efb.3_Missense_Mutation_p.P462L|ZNF382_uc002oel.3_Missense_Mutation_p.P462L NM_032825 NP_116214 Q96SR6 ZN382_HUMAN Homo sapiens zinc finger protein 382 (ZNF382), mRNA. 463 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGGGAAAAACCCTATATTTGT 0.453000 13 21 0 0 0.014323 0 0 TRIM33 51592 broad.mit.edu 37 1 114942115 114942115 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:114942115G>A uc001eew.3 - 17 3168 c.3084C>T c.(3082-3084)gtC>gtT p.V1028V TRIM33_uc010owr.2_Silent_p.V642V|TRIM33_uc010ows.2_Silent_p.V660V|TRIM33_uc001eex.3_Silent_p.V1028V NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA. 1028 Bromo. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGATCAAACGGACATCGGCCA 0.343000 T RET papillary thyroid 10 164 0 0 0.014410 0 0 ADH1B 125 broad.mit.edu 37 4 100232728 100232728 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:100232728T>C uc003hus.4 - 6 998 c.914A>G c.(913-915)aAc>aGc p.N305S ADH1B_uc003hut.4_Missense_Mutation_p.N265S|ADH1B_uc011ceh.2_Missense_Mutation_p.N150S|ADH1B_uc011cei.1_Missense_Mutation_p.N265S NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 305 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CAGCATAGGGTTTATTGAGAG 0.473000 99 81 0 0 0.014410 0 0 OR1B1 347169 broad.mit.edu 37 9 125391515 125391515 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:125391515C>T uc011lyz.2 - 0 300 c.300G>A c.(298-300)ttG>ttA p.L100L NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 AGAACTGAGCCAAGCAGCGGG 0.517000 3 15 0 0 0.002450 0 0 GK2 2712 broad.mit.edu 37 4 80329056 80329056 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:80329056C>T uc003hlu.3 - 0 317 c.299G>A c.(298-300)tGg>tAg p.W100* NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 100 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TAACTTGTCCCAGATTACAGT 0.408000 56 46 0 0 0.014410 0 0 ATP7A 538 broad.mit.edu 37 X 77244104 77244104 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:77244104C>T uc004ecx.4 + 2 647 c.487C>T c.(487-489)Cat>Tat p.H163Y ATP7A_uc004ecw.2_Missense_Mutation_p.H163Y NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 163 ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TTGTGAAGATCATAGTATGGC 0.423000 102 88 0 0 0.014410 0 0 ITPR1 3708 broad.mit.edu 37 3 4856858 4856858 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:4856858A>G uc003bqc.3 + 57 8128 c.7778A>G c.(7777-7779)aAg>aGg p.K2593R ITPR1_uc021wsi.1_Missense_Mutation_p.K2560R|ITPR1_uc021wsj.1_Missense_Mutation_p.K2545R|ITPR1_uc011asu.2_Missense_Mutation_p.K571R|ITPR1_uc010hcc.2_Missense_Mutation_p.K328R|ITPR1_uc011asv.2_Missense_Mutation_p.K284R NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2608 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGGAGTGAGAAGCAGAAGAAG 0.478000 28 17 0 0 0.004007 0 0 ITIH1 3697 broad.mit.edu 37 3 52825909 52825909 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:52825909C>T uc003dfs.3 + 21 2748 c.2718C>T c.(2716-2718)atC>atT p.I906I ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.I764I|ITIH1_uc021wzg.1_Silent_p.I618I|ITIH1_uc021wzh.1_Silent_p.I618I|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 906 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CTGATTATATCGTCCCCGACA 0.597000 21 9 0 0 0.006214 0 0 ALPK2 115701 broad.mit.edu 37 18 56191279 56191279 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:56191279G>A uc002lhj.4 - 6 5731 c.5517C>T c.(5515-5517)tcC>tcT p.S1839S NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1839 Ig-like 2. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AGGAAACAGTGGAGTTGTCCC 0.428000 19 26 0 0 0.006320 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701699 96701699 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:96701699G>A uc001kka.4 + 1 278 c.253G>A c.(253-255)Gaa>Aaa p.E85K CYP2C9_uc009xut.3_Missense_Mutation_p.E85K|CYP2C9_uc001kjz.3_Missense_Mutation_p.E85K NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 85 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGCAGTGAAGGAAGCCCTGAT 0.473000 92 82 0 0 0.014410 0 0 CLDN14 23562 broad.mit.edu 37 21 37833619 37833619 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:37833619G>A uc021wja.1 - 0 375 c.375C>T c.(373-375)ttC>ttT p.F125F CLDN14_uc002yvn.1_Silent_p.F125F|CLDN14_uc002yvo.1_Silent_p.F125F|CLDN14_uc002yvk.1_Silent_p.F125F|CLDN14_uc002yvl.1_Silent_p.F125F|CLDN14_uc002yvm.1_Silent_p.F125F NM_144492 NP_652763 O95500 CLD14_HUMAN Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA. 125 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 CGGCCAGGATGAAGAGGGTGC 0.647000 31 22 0 0 0.006320 0 0 ZNF831 128611 broad.mit.edu 37 20 57829327 57829327 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:57829327G>A uc002yan.3 + 4 4563 c.4563G>A c.(4561-4563)ggG>ggA p.G1521G NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1521 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGACTGCAGGGAGGACTCTGA 0.522000 14 14 0 0 0.002450 0 0 POTEF 728378 broad.mit.edu 37 2 130877834 130877834 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:130877834G>A uc010fmh.2 - 2 655 c.255C>T c.(253-255)gaC>gaT p.D85D NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 85 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AGTCGTCGTGGTCTCCAGAAG 0.607000 238 35 0 0 0.014410 0 0 C7orf45 136263 broad.mit.edu 37 7 129856019 129856019 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:129856019G>A uc003vpp.3 + 2 491 c.444G>A c.(442-444)acG>acA p.T148T NM_145268 NP_660311 Q8WWF3 CG045_HUMAN Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA. 148 integral to membrane endometrium(2)|kidney(1)|lung(6)|ovary(1) 10 Melanoma(18;0.0435) GTGATACTACGGAGTATGGCA 0.483000 72 30 0 0 0.012213 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343277 130343277 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:130343277G>A uc010scd.2 + 7 2414 c.2414G>A c.(2413-2415)cGg>cAg p.R805Q NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 805 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R805L(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AAAGAGCCTCGGGAGGACAAG 0.652000 8 72 0 0 0.014410 0 0 APBA1 320 broad.mit.edu 37 9 72131823 72131823 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:72131823C>T uc004ahh.2 - 1 580 c.304G>A c.(304-306)Gac>Aac p.D102N NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 102 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCGTAGCCGTCGCGGGCCGCG 0.716000 0 5 0 0 0.001984 0 0 C5AR1 728 broad.mit.edu 37 19 47823646 47823646 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:47823646C>T uc002pgj.1 + 1 661 c.612C>T c.(610-612)atC>atT p.I204I NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 204 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCGTGGCCATCGTCCGGCTGG 0.627000 69 41 0 0 0.014410 0 0 PAPOLA 10914 broad.mit.edu 37 14 96991699 96991699 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:96991699G>A uc001yfq.3 + 3 519 c.302G>A c.(301-303)gGa>gAa p.G101E PAPOLA_uc001yfp.3_Missense_Mutation_p.G101E|PAPOLA_uc001yfo.3_Missense_Mutation_p.G101E|PAPOLA_uc001yfr.3_Missense_Mutation_p.G101E|PAPOLA_uc010twv.2_Missense_Mutation_p.G101E|PAPOLA_uc010avp.3_5'UTR NM_032632 NP_116021 P51003 PAPOA_HUMAN Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA. 101 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TTTACATTTGGATCTTACAGA 0.328000 72 5 0 0 0.000602 0 0 FREM1 158326 broad.mit.edu 37 9 14857629 14857629 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:14857629C>T uc003zlm.3 - 5 1566 c.750G>A c.(748-750)ctG>ctA p.L250L FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 250 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAGGGGGATCCAGATGCTGAT 0.478000 67 49 0 0 0.014410 0 0 MYH1 4619 broad.mit.edu 37 17 10401113 10401113 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10401113C>T uc002gmo.3 - 30 4397 c.4303G>A c.(4303-4305)Gat>Aat p.D1435N AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1435 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.D1435N(2) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTCTCAACATCAATCATGAGG 0.458000 50 42 0 0 0.014410 0 0 RGS21 431704 broad.mit.edu 37 1 192321268 192321268 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:192321268G>A uc001gsh.3 + 3 354 c.180G>A c.(178-180)acG>acA p.T60T NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 60 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 TTAAGAAAACGAAAAATGCAG 0.353000 2 74 0 0 0.014410 0 0 SHC4 399694 broad.mit.edu 37 15 49254922 49254922 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:49254922G>A uc001zxb.1 - 0 720 c.291C>T c.(289-291)aaC>aaT p.N97N NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA. 97 CH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) AAGTGGCCGGGTTGGCCAGCT 0.617000 44 38 0 0 0.006999 0 0 F2RL2 2151 broad.mit.edu 37 5 75914364 75914364 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:75914364C>T uc003kem.3 - 1 353 c.168G>A c.(166-168)ttG>ttA p.L56L IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Silent_p.L34L NM_004101 NP_004092 O00254 PAR3_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA. 56 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TCCAGCCTTCCAAGGCAGAAA 0.448000 77 72 0 0 0.014410 0 0 MAP7D2 256714 broad.mit.edu 37 X 20034406 20034406 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:20034406C>T uc010nfo.2 - 10 1567 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K MAP7D2_uc004czq.2_Missense_Mutation_p.E328K|MAP7D2_uc011mji.2_Missense_Mutation_p.E391K|MAP7D2_uc004czr.2_Missense_Mutation_p.E443K|MAP7D2_uc011mjj.2_Missense_Mutation_p.E398K NM_001168465 NP_001161937 Q96T17 MA7D2_HUMAN Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA. 443 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 cgaagcctttcctcctctgcc 0.458000 22 23 0 0 0.002780 0 0 TDRD6 221400 broad.mit.edu 37 6 46660568 46660568 + Missense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:46660568C>A uc003oyj.3 + 0 4957 c.4703C>A c.(4702-4704)cCt>cAt p.P1568H TDRD6_uc010jze.3_Missense_Mutation_p.P1568H NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1568 Tudor 7. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) ATCCCATGTCCTTATATTGGA 0.383000 37 18 2.4624e-09 3.32679e-09 0.008871 1 0 C6 729 broad.mit.edu 37 5 41199975 41199975 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:41199975C>T uc003jmk.2 - 3 550 c.340G>A c.(340-342)Gga>Aga p.G114R C6_uc003jml.1_Missense_Mutation_p.G114R NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 114 TSP type-1 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.G113V(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CATGGCTGTCCCCCAAACTGA 0.448000 18 13 0 0 0.013537 0 0 CD207 50489 broad.mit.edu 37 2 71062644 71062644 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:71062644G>A uc002shg.3 - 1 215 c.168C>T c.(166-168)tcC>tcT p.S56S NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN Homo sapiens CD207 molecule, langerin (CD207), mRNA. 56 defense response to virus endocytic vesicle|integral to membrane mannose binding p.A55V(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GCAGCAGGACGGAGGCGACCA 0.602000 12 14 0 0 0.007413 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714972 65714972 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:65714972G>A uc001ogk.1 + 3 705 c.673G>A c.(673-675)Gag>Aag p.E225K TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA. 226 endometrium(2)|kidney(3)|lung(9) 14 TGAGGAGGCCGAGAGGGGTCT 0.657000 23 17 0 0 0.010504 0 0 C12orf51 283450 broad.mit.edu 37 12 112677814 112677814 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:112677814C>T uc021reb.1 - 32 4970 c.4574G>A c.(4573-4575)tGt>tAt p.C1525Y NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 CATCCCACCACATGTGAGTTC 0.502000 32 33 0 0 0.004289 0 0 FRAS1 80144 broad.mit.edu 37 4 79369265 79369266 + Nonsense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:79369265_79369266CC>TT uc003hlb.2 + 43 6509_6510 c.6069_6070CC>TT c.(6067-6072)gtccag>gtTTag p.Q2024* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2023 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAGTTTTAGTCCAGGGCTCAAC 0.505000 11 11 0 0 0.004672 0 0 SLC6A12 6539 broad.mit.edu 37 12 301744 301744 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:301744C>T uc001qhz.3 - 15 2265 c.1601G>A c.(1600-1602)tGg>tAg p.W534* SLC6A12_uc001qhy.3_Nonsense_Mutation_p.W90*|SLC6A12_uc001qia.3_Nonsense_Mutation_p.W534*|SLC6A12_uc001qib.3_Nonsense_Mutation_p.W534*|SLC6A12_uc009zdh.2_Nonsense_Mutation_p.W534* NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 534 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GGAGTATCCCCAGGGCGGGTA 0.562000 35 39 0 0 0.006999 0 0 TMC2 117532 broad.mit.edu 37 20 2559842 2559842 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:2559842C>T uc002wgf.1 + 5 711 c.696C>T c.(694-696)atC>atT p.I232I TMC2_uc002wgg.1_Silent_p.I216I|TMC2_uc010zpw.1_Silent_p.I64I|TMC2_uc010zpx.1_Silent_p.I63I NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 232 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 CTCAATGTATCCCCTGGGAAA 0.368000 14 16 0 0 0.004007 0 0 ITGAX 3687 broad.mit.edu 37 16 31391891 31391891 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:31391891C>T uc002ebt.3 + 27 3289 c.3222C>T c.(3220-3222)ttC>ttT p.F1074F ITGAX_uc002ebu.1_Silent_p.F1074F NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 1074 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AAATTACGTTCGACACATCCG 0.562000 30 32 0 0 0.013114 0 0 LOC645166 645166 broad.mit.edu 37 1 148932920 148932920 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:148932920G>A uc010pbc.1 + 2 c.235_splice c.e2+1 LOC645166_uc010pbd.1_Splice_Site|LOC645166_uc009wkw.1_Splice_Site Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA. CGTCCTGCAAGGTAAGGTCCC 0.597000 151 11 0 0 0.003163 0 0 TP63 8626 broad.mit.edu 37 3 189526072 189526072 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:189526072G>A uc003fry.2 + 3 425 c.336G>A c.(334-336)acG>acA p.T112T TP63_uc003frx.2_Silent_p.T112T|TP63_uc003frz.2_Silent_p.T112T|TP63_uc010hzc.1_Silent_p.T112T|TP63_uc003fsa.2_Silent_p.T18T|TP63_uc003fsb.2_Silent_p.T18T|TP63_uc003fsc.2_Silent_p.T18T|TP63_uc003fsd.2_Silent_p.T18T|TP63_uc021xir.1_Silent_p.T18T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_5'UTR NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 112 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T112M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CACAGTACACGAACCTGGGGC 0.547000 HNSCC(45;0.13) 39 28 0 0 0.013726 0 0 KALRN 8997 broad.mit.edu 37 3 124215215 124215215 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:124215215C>T uc003ehg.3 + 32 5011 c.4884C>T c.(4882-4884)atC>atT p.I1628I KALRN_uc010hrv.1_Silent_p.I1619I|KALRN_uc003ehf.1_Silent_p.I1628I|KALRN_uc011bjy.1_Silent_p.I1619I NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 1628 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CAGACACCATCTCCATTGCTT 0.542000 41 38 0 0 0.010771 0 0 SCN11A 11280 broad.mit.edu 37 3 38921480 38921480 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:38921480G>A uc021wvy.1 - 18 3553 c.3354C>T c.(3352-3354)ttC>ttT p.F1118F SCN11A_uc010hhn.1_Silent_p.F196F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1118 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AGGCACTGGTGAAATACTTTC 0.393000 14 9 0 0 0.010729 0 0 C4orf34 201895 broad.mit.edu 37 4 39606742 39606742 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:39606742G>A uc003guo.3 - 1 182 c.24C>T c.(22-24)ccC>ccT p.P8P NM_174921 NP_777581 Q96QK8 CD034_HUMAN Homo sapiens chromosome 4 open reading frame 34 (C4orf34), mRNA. 8 integral to membrane protein binding CACATTCACAGGGATCAAATC 0.388000 33 26 0 0 0.010818 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744112 31744112 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:31744112G>A uc002ynz.4 - 0 446 c.420C>T c.(418-420)ctC>ctT p.L140L NM_181621 NP_853652 Q52LG2 KR132_HUMAN Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA. 140 intermediate filament endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 ATCCATAGCCGAGGGAAGGGA 0.567000 22 12 0 0 0.013537 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028069 45028069 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:45028069C>T uc010ejn.1 - 2 438 c.422G>A c.(421-423)cGa>cAa p.R141Q CEACAM20_uc010ejo.1_Missense_Mutation_p.R141Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.R141Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.R141Q NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 141 Ig-like C2-type 1. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AAGGGCATCTCGAGCTTCACA 0.532000 192 154 0 0 0.014410 0 0 BRWD3 254065 broad.mit.edu 37 X 79947370 79947370 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:79947370C>T uc004edt.3 - 29 3696 c.3433G>A c.(3433-3435)Gaa>Aaa p.E1145K BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.E974K|BRWD3_uc004edq.3_Missense_Mutation_p.E741K|BRWD3_uc010nmj.2_Missense_Mutation_p.E741K|BRWD3_uc004edr.3_Missense_Mutation_p.E815K|BRWD3_uc004eds.3_Missense_Mutation_p.E741K|BRWD3_uc004edo.3_Missense_Mutation_p.E741K|BRWD3_uc004edu.3_Missense_Mutation_p.E815K|BRWD3_uc004edv.3_Missense_Mutation_p.E741K|BRWD3_uc004edw.3_Missense_Mutation_p.E741K|BRWD3_uc004edx.3_Missense_Mutation_p.E741K|BRWD3_uc004edy.3_Missense_Mutation_p.E741K|BRWD3_uc004edz.3_Missense_Mutation_p.E815K|BRWD3_uc004eea.3_Missense_Mutation_p.E815K|BRWD3_uc004eeb.3_Missense_Mutation_p.E741K NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1145 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCACATTCTTCGTCTCTGGAA 0.468000 35 27 0 0 0.009535 0 0 PSMA4 5685 broad.mit.edu 37 15 78837985 78837986 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:78837985_78837986CC>TT uc002bdu.4 + 6 544_545 c.386_387CC>TT c.(385-387)ccc>cTT p.P129L PSMA4_uc010blf.3_Missense_Mutation_p.P129L|PSMA4_uc002bdv.4_Missense_Mutation_p.P58L|PSMA4_uc002bdw.4_Missense_Mutation_p.P105L|PSMA4_uc002bdx.4_Missense_Mutation_p.P58L NM_002789 NP_001096138 P25789 PSA4_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA. 129 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GGAAAACGTCCCTTTGGTGTTT 0.406000 107 57 0 0 0.004672 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795310 100795311 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:100795310_100795311CC>TT uc001yhc.3 + 4 648_649 c.575_576CC>TT c.(574-576)tcc>tTT p.S192F SLC25A47_uc001yhd.3_Missense_Mutation_p.S46F NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA. 192 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 GACGGCCACTCCTTTGCCACCT 0.693000 32 34 0 0 0.004672 0 0 CCDC37 348807 broad.mit.edu 37 3 126153205 126153205 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:126153205G>A uc010hsg.1 + 13 1671 c.1612G>A c.(1612-1614)Gag>Aag p.E538K CCDC37_uc003eiu.1_Missense_Mutation_p.E537K NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 537 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GAGGGCAAAGGAGAAGGAGCG 0.622000 20 13 0 0 0.001855 0 0 UNC79 57578 broad.mit.edu 37 14 94053106 94053106 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94053106G>A uc001ybv.1 + 19 2436 c.2353_splice c.e19-1 p.E785_splice UNC79_uc001ybs.1_Splice_Site_p.E785_splice NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 962 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTTTGTATAGGAAATGGCTAA 0.343000 42 27 0 0 0.008361 0 0 DNA2 1763 broad.mit.edu 37 10 70182479 70182479 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:70182479G>A uc021pru.1 - 14 2635 c.2635C>T c.(2635-2637)Ccc>Tcc p.P879S DNA2_uc021prt.1_Missense_Mutation_p.P879S|DNA2_uc021prv.1_Missense_Mutation_p.P50S|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript NM_001080449 NP_001073918 P51530 DNA2L_HUMAN Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA. 793 DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AGCACCAGGGGAGGAAGCTGC 0.413000 21 13 0 0 0.001855 0 0 C20orf26 26074 broad.mit.edu 37 20 20226842 20226842 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:20226842G>A uc002wru.3 + 18 2256 c.2142G>A c.(2140-2142)agG>agA p.R714R C20orf26_uc010zse.2_Silent_p.R694R|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.R70R NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 714 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTGAACAAAGGAAATTTTTAG 0.343000 42 35 0 0 0.006230 0 0 FKBP6 8468 broad.mit.edu 37 7 72440394 72440394 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:72440394C>T uc003twz.2 + 0 203 c.50C>T c.(49-51)cCc>cTc p.P17L TRIM74_uc010lao.2_5'Flank|TRIM74_uc003tws.1_5'Flank|TRIM74_uc003twv.3_Non-coding_Transcript|TRIM74_uc011kem.2_Non-coding_Transcript|FKBP6_uc010lap.3_Non-coding_Transcript|FKBP6_uc003twx.4_Missense_Mutation_p.P17L NM_001135211 NP_001128683 O75344 FKBP6_HUMAN Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 2, mRNA. 17 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) GACGACGCCCCCGGCCAGGTG 0.687000 9 3 0 0 0.001168 0 0 AFF4 27125 broad.mit.edu 37 5 132232341 132232341 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:132232341G>A uc003kyd.3 - 10 2389 c.1981C>T c.(1981-1983)Cct>Tct p.P661S AFF4_uc011cxk.2_Missense_Mutation_p.P339S|AFF4_uc003kye.1_Missense_Mutation_p.P661S NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 661 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGTGAGGAAGGAGGAAGGCTC 0.418000 37 40 0 0 0.008740 0 0 CELSR3 1951 broad.mit.edu 37 3 48691118 48691118 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:48691118C>T uc003cuf.1 - 10 5592 c.5592G>A c.(5590-5592)cgG>cgA p.R1864R CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.R1794R NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 1794 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TTGCCCGTGTCCGAAATGCCA 0.607000 26 31 0 0 0.009535 0 0 SLC38A11 151258 broad.mit.edu 37 2 165802238 165802238 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:165802238C>T uc002ucw.2 - 3 393 c.62_splice c.e3-1 p.D21_splice SLC38A11_uc002ucu.2_Splice_Site_p.D21_splice|SLC38A11_uc002ucv.2_Splice_Site_p.D21_splice NM_001199148 NP_001186077 Q08AI6 S38AB_HUMAN Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA. 21 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 AGGGAAAAGTCTGTGGCAAGA 0.353000 46 50 0 0 0.014410 0 0 RGN 9104 broad.mit.edu 37 X 46949287 46949287 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:46949287C>T uc004dgz.1 + 4 1428 c.459C>T c.(457-459)tcC>tcT p.S153S RGN_uc004dha.1_Silent_p.S153S|RGN_uc010nho.1_Silent_p.S100S|RGN_uc010nhp.1_Intron NM_152869 NP_690608 Q15493 RGN_HUMAN Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA. 153 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding p.I152M(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 TGGACATTTCCAATGGTTTGG 0.498000 39 37 0 0 0.007835 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147027972 147027972 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:147027972C>T uc010jgo.1 - 3 1051 c.903G>A c.(901-903)agG>agA p.R301R JAKMIP2_uc003loq.1_Silent_p.R301R|JAKMIP2_uc011dbx.1_Silent_p.R259R|JAKMIP2_uc003lor.1_Silent_p.R301R|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 301 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGGTATTCCTGTCTTCTA 0.303000 58 45 0 0 0.014410 0 0 TBL1X 6907 broad.mit.edu 37 X 9659735 9659735 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:9659735G>A uc004csr.3 + 7 1220 c.733G>A c.(733-735)Gat>Aat p.D245N TBL1X_uc004csq.4_Missense_Mutation_p.D194N|TBL1X_uc010ndr.3_Missense_Mutation_p.D194N|TBL1X_uc010ndq.3_Missense_Mutation_p.D245N|TBL1X_uc004css.3_Missense_Mutation_p.D196N NM_005647 NP_001132940 O60907 TBL1X_HUMAN Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA. 245 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) TCCTGTCAGTGATTTGCTAGC 0.542000 34 18 0 0 0.012319 0 0 ADAM7 8756 broad.mit.edu 37 8 24350600 24350600 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:24350600C>T uc003xeb.3 + 15 1813 c.1700C>T c.(1699-1701)tCc>tTc p.S567F ADAM7_uc003xec.3_Missense_Mutation_p.S339F NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 567 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGGGAGCTTTCCTCTCTCCTT 0.393000 35 27 0 0 0.009535 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459824 107459824 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:107459824G>A uc002tdq.3 - 1 729 c.610C>T c.(610-612)Ctg>Ttg p.L204L ST6GAL2_uc002tdr.3_Silent_p.L204L|ST6GAL2_uc002tds.3_Silent_p.L204L NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 204 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AGCCGGTACAGGAAGGCCCTG 0.622000 13 20 0 0 0.010504 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33802148 33802148 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:33802148G>C uc002hjn.3 - 4 2362 c.1648C>G c.(1648-1650)Cct>Gct p.P550A SLFN12L_uc021tuy.1_Missense_Mutation_p.P521A NM_001195790 NP_001182719 Q6IEE8 SN12L_HUMAN Homo sapiens schlafen family member 12-like (SLFN12L), mRNA. 553 Y -> S (in dbSNP:rs3744372). integral to membrane ATP binding p.Y549S(2) breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TTGCCTTCAGGGCTCAAGTAG 0.383000 34 25 0 0 0.009535 0 0 SPAST 6683 broad.mit.edu 37 2 32323885 32323885 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:32323885C>T uc002roc.3 + 3 828 c.607C>T c.(607-609)Cca>Tca p.P203S SPAST_uc002rod.3_Intron NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN Homo sapiens spastin (SPAST), transcript variant 1, mRNA. 203 Required for interaction with RTN1. ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ACCAGTTTTGCCATTTTCCAA 0.353000 36 28 0 0 0.006320 0 0 PDE4A 5141 broad.mit.edu 37 19 10578119 10578119 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:10578119C>T uc002moj.2 + 14 2591 c.2483C>T c.(2482-2484)tCt>tTt p.S828F PDE4A_uc021uow.1_Missense_Mutation_p.S806F|PDE4A_uc002mok.2_Missense_Mutation_p.S802F|PDE4A_uc002mol.2_Missense_Mutation_p.S767F|PDE4A_uc002mom.2_Missense_Mutation_p.S589F|PDE4A_uc002moo.2_3'UTR NM_001111307 NP_001104777 P27815 PDE4A_HUMAN Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA. 828 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AGGACCCTGTCTGTTTCAGAG 0.662000 60 46 0 0 0.014410 0 0 PDXK 8566 broad.mit.edu 37 21 45173471 45173471 + Silent SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:45173471C>G uc002zdm.4 + 8 828 c.630C>G c.(628-630)ccC>ccG p.P210P PDXK_uc002zdn.4_Silent_p.P182P NM_003681 NP_003672 O00764 PDXK_HUMAN Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA. 210 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) TAGGGAATCCCGCTGGCTCCG 0.637000 13 7 0 0 0.003080 0 0 RTN3 10313 broad.mit.edu 37 11 63486256 63486256 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:63486256C>T uc001nxq.3 + 2 469 c.282C>T c.(280-282)aaC>aaT p.N94N RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Intron|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.N75N|RTN3_uc001nxo.3_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA. 94 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AAATACATAACACTGGCCTTA 0.383000 15 16 0 0 0.004007 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828599 144828599 + Missense_Mutation SNP G A A rs28736716 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:144828599G>A uc009wig.1 + 21 2832 c.2638G>A c.(2638-2640)Gga>Aga p.G880R NBPF10_uc010oxo.1_Missense_Mutation_p.G807R|NBPF10_uc010oxn.1_Missense_Mutation_p.G780R|NBPF10_uc021oth.1_Missense_Mutation_p.G542R|NBPF10_uc021otj.1_Missense_Mutation_p.G909R|NBPF10_uc021oto.1_Missense_Mutation_p.G697R|NBPF10_uc021otr.1_Missense_Mutation_p.G209R|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.G453R|NBPF10_uc010oyd.1_Missense_Mutation_p.G209R|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 882 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTCACTGGATGGATGTTATTC 0.463000 32 23 0 0 0.007291 0 0 KLHL18 23276 broad.mit.edu 37 3 47371567 47371567 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:47371567C>T uc003crd.3 + 3 654 c.528C>T c.(526-528)ttC>ttT p.F176F KLHL18_uc003crc.2_Silent_p.F176F|KLHL18_uc011bav.2_Silent_p.F64F|KLHL18_uc010hjq.2_Silent_p.F27F NM_025010 NP_079286 O94889 KLH18_HUMAN Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA. 176 BACK. p.F176F(2) endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CAGAAGAGTTCCTGGCCCTGC 0.542000 21 19 0 0 0.012319 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170606 72170606 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:72170606C>T uc002fcc.4 - 7 1203 c.1031G>A c.(1030-1032)aGa>aAa p.R344K PMFBP1_uc002fcd.3_Missense_Mutation_p.R344K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.R199K NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 344 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CATGATGTTTCTCTTCTGTTC 0.567000 8 16 0 0 0.004990 0 0 KRT74 121391 broad.mit.edu 37 12 52962029 52962029 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52962029C>T uc001sap.1 - 6 1327 c.1279G>A c.(1279-1281)Gag>Aag p.E427K NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 427 Coil 2.|Rod. keratin filament structural molecule activity p.Q426*(1) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CTCATGAGCTCCTGGTACTCG 0.637000 37 27 0 0 0.009535 0 0 MYH8 4626 broad.mit.edu 37 17 10301804 10301804 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10301804C>T uc002gmm.2 - 29 4230 c.4135G>A c.(4135-4137)Gag>Aag p.E1379K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1379 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 GCATCCGTCTCGTATTTGGTT 0.542000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 154 84 0 0 0.014410 0 0 MECOM 2122 broad.mit.edu 37 3 168833244 168833244 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:168833244C>T uc011bpj.1 - 7 2819 c.2416G>A c.(2416-2418)Gaa>Aaa p.E806K MECOM_uc010hwk.1_Missense_Mutation_p.E641K|MECOM_uc003ffj.3_Missense_Mutation_p.E683K|MECOM_uc003ffi.3_Missense_Mutation_p.E618K|MECOM_uc011bpi.1_Missense_Mutation_p.E619K|MECOM_uc003ffn.3_Missense_Mutation_p.E618K|MECOM_uc003ffk.2_Missense_Mutation_p.E618K|MECOM_uc003ffl.2_Missense_Mutation_p.E778K|MECOM_uc011bpk.1_Missense_Mutation_p.E618K|MECOM_uc010hwn.2_Missense_Mutation_p.E806K NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 27 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGTCTTGATTCGACGTTGCTT 0.473000 19 20 0 0 0.010504 0 0 KRT5 3852 broad.mit.edu 37 12 52908824 52908824 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52908824G>A uc001san.3 - 8 1838 c.1675C>T c.(1675-1677)Cga>Tga p.R559* NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 559 Ser-rich.|Tail. 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) CCCAGCCCTCGGCCACTGCTT 0.627000 13 12 0 0 0.004990 0 0 OTX2 5015 broad.mit.edu 37 14 57268564 57268564 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:57268564G>A uc001xcq.3 - 4 1057 c.783C>T c.(781-783)acC>acT p.T261T OTX2_uc001xcp.3_Silent_p.T253T|OTX2_uc021rtm.1_Silent_p.T83T|OTX2_uc010aou.3_Silent_p.T253T NM_021728 NP_068374 P32243 OTX2_HUMAN Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. 253 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) AGCAATCAGTGGTTGAGTTAA 0.468000 31 28 0 0 0.008361 0 0 ACP6 51205 broad.mit.edu 37 1 147131765 147131765 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:147131765C>T uc001epr.2 - 1 809 c.345G>A c.(343-345)ctG>ctA p.L115L ACP6_uc009wjj.1_Intron NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA. 115 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) TGCTCACCTTCAGGGTGGTCT 0.502000 2 125 0 0 0.014410 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092293 151092293 + Missense_Mutation SNP G A A rs144298375 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:151092293G>A uc022cgv.1 + 0 157 c.157G>A c.(157-159)Gaa>Aaa p.E53K MAGEA4_uc004fez.3_Missense_Mutation_p.E53K|MAGEA4_uc004ffa.3_Missense_Mutation_p.E53K|MAGEA4_uc004ffb.3_Missense_Mutation_p.E53K|MAGEA4_uc022cgu.1_Missense_Mutation_p.E81K|MAGEA4_uc004ffc.3_Missense_Mutation_p.E53K|MAGEA4_uc004ffd.3_Missense_Mutation_p.E53K NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 53 E -> K (in Ref. 3; BAA06841). protein binding p.E52D(1) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CACCCTGGAGGAAGTGCCTGC 0.617000 54 92 0 0 0.014410 0 0 IYD 389434 broad.mit.edu 37 6 150690257 150690257 + Silent SNP G A A rs146748197 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:150690257G>A uc003qnx.2 + 0 230 c.90G>A c.(88-90)aaG>aaA p.K30K IYD_uc003qnv.2_Silent_p.K30K|IYD_uc003qnu.2_Silent_p.K30K|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR NM_001164694 NP_001158166 Q6PHW0 IYD1_HUMAN Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA. 30 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGGAGAAAAAGAAGGGGGAGC 0.493000 4 70 0 0 0.014410 0 0 TNS3 64759 broad.mit.edu 37 7 47454705 47454705 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:47454705G>A uc003tnw.3 - 10 931 c.573C>T c.(571-573)ttC>ttT p.F191F TNS3_uc010kyo.1_Silent_p.F191F NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 191 C2 tensin-type. focal adhesion protein binding p.F191fs*10(4) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CACCTGTGTCGAAGTTGGGGG 0.572000 17 4 0 0 0.009096 0 0 ZNF429 353088 broad.mit.edu 37 19 21719375 21719375 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:21719375C>T uc002nqd.1 + 3 657 c.520C>T c.(520-522)Cag>Tag p.Q174* ZNF429_uc010ecu.2_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN Homo sapiens zinc finger protein 429 (ZNF429), mRNA. 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 GAAACCTTTCCAGTGTAAAAA 0.313000 33 20 0 0 0.007413 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709432 31709432 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:31709432G>A uc002ynx.1 - 0 581 c.555C>T c.(553-555)ctC>ctT p.L185L NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA. 185 intermediate filament p.L185L(2) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 AAGATTCCAGGAGTTGTGGCT 0.468000 20 24 0 0 0.002780 0 0 MED12L 116931 broad.mit.edu 37 3 150876497 150876497 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:150876497G>A uc003eyp.3 + 5 877 c.748G>A c.(748-750)Gaa>Aaa p.E250K MED12L_uc011bnz.2_Missense_Mutation_p.E250K|MED12L_uc003eym.1_Missense_Mutation_p.E250K|MED12L_uc003eyn.3_Missense_Mutation_p.E250K|MED12L_uc003eyo.3_Missense_Mutation_p.E250K NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 250 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGAAAAACACGAATATTTGAC 0.308000 22 12 0 0 0.013537 0 0 MED16 10025 broad.mit.edu 37 19 885838 885838 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:885838G>A uc002lqd.1 - 4 962 c.811C>T c.(811-813)Ctc>Ttc p.L271F MED16_uc010drw.2_Missense_Mutation_p.L96F|MED16_uc002lqe.3_Missense_Mutation_p.L260F|MED16_uc002lqf.3_Missense_Mutation_p.L260F|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.L260F|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN Homo sapiens mediator complex subunit 16 (MED16), mRNA. 271 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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) TTGCGGTTGAGGTCGGTGGTG 0.632000 30 16 0 0 0.006122 0 0 CLCA4 22802 broad.mit.edu 37 1 87043677 87043678 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:87043677_87043678GG>AA uc009wcs.3 + 11 2088_2089 c.2044_2045GG>AA c.(2044-2046)gga>AAa p.G682K CLCA4_uc009wct.3_Missense_Mutation_p.G445K|CLCA4_uc009wcu.3_Missense_Mutation_p.G502K NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA. 682 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TCGGGCTCATGGAGGAGCAAAC 0.431000 3 25 0 0 0.004672 0 0 HYDIN 54768 broad.mit.edu 37 16 71163558 71163558 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:71163558G>A uc002ezr.3 - 8 1363 c.1212C>T c.(1210-1212)ttC>ttT p.F404F HYDIN_uc010cfz.2_Silent_p.F149F|HYDIN_uc021tkq.1_Silent_p.F404F|HYDIN_uc010vmc.2_Silent_p.F421F|HYDIN_uc010vmd.2_Silent_p.F431F|HYDIN_uc002ezw.4_Silent_p.F421F NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 404 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) GCTCCACAGTGAAAACGTTAT 0.473000 16 7 0 0 0.001984 0 0 CDHR2 54825 broad.mit.edu 37 5 176016107 176016107 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:176016107G>C uc021yie.1 + 21 3206 c.2932G>C c.(2932-2934)Ggg>Cgg p.G978R CDHR2_uc003mem.2_Missense_Mutation_p.G978R|CDHR2_uc003men.1_Missense_Mutation_p.G978R NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 978 Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding p.G978W(2) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTCTAAGGACGGGGCCACCAT 0.577000 118 54 0 0 0.014410 0 0 MYOM2 9172 broad.mit.edu 37 8 2040179 2040179 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:2040179C>T uc003wpx.4 + 15 1972 c.1834C>T c.(1834-1836)Cct>Tct p.P612S MYOM2_uc011kwi.2_Missense_Mutation_p.P37S NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 612 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAAAGTTGTCCCTTCTGCTCC 0.547000 119 101 0 0 0.014410 0 0 SLC7A14 57709 broad.mit.edu 37 3 170244485 170244485 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:170244485C>T uc003fgz.2 - 1 557 c.241G>A c.(241-243)Gaa>Aaa p.E81K CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 81 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCTGCCATTTCCTTGGCCACC 0.532000 42 21 0 0 0.002780 0 0 RNF219 79596 broad.mit.edu 37 13 79189831 79189831 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:79189831G>A uc001vkw.1 - 5 2124 c.2065C>T c.(2065-2067)Cct>Tct p.P689S BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.P499S NM_024546 NP_078822 Q5W0B1 RN219_HUMAN Homo sapiens ring finger protein 219 (RNF219), mRNA. 689 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GTAGACCAAGGAGACTGAAGG 0.398000 55 49 0 0 0.014410 0 0 DDN 23109 broad.mit.edu 37 12 49390542 49390542 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:49390542C>T uc001rsv.1 - 1 2135 c.2117G>A c.(2116-2118)gGa>gAa p.G706E NM_015086 NP_055901 O94850 DEND_HUMAN Homo sapiens dendrin (DDN), mRNA. 706 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CTTCCTATTTCCCTGTTGGGT 0.552000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 21 0 0 0.014323 0 0 ZNF600 162966 broad.mit.edu 37 19 53269487 53269487 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:53269487G>A uc002qab.4 - 2 1808 c.1522C>T c.(1522-1524)Cgt>Tgt p.R508C ZNF600_uc021uyz.1_Missense_Mutation_p.R508C NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN Homo sapiens zinc finger protein 600 (ZNF600), mRNA. 508 R -> H (in Ref. 1; BAD18414). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R508C(2) breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) GACCTCAGACGGAAGGTCTTG 0.443000 91 79 0 0 0.014410 0 0 MLST8 64223 broad.mit.edu 37 16 2258787 2258788 + Nonsense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:2258787_2258788GG>AA uc002cpc.3 + 8 1251_1252 c.890_891GG>AA c.(889-891)tgg>tAA p.W297* MLST8_uc010uvx.2_Nonsense_Mutation_p.W231*|MLST8_uc002cpd.3_Nonsense_Mutation_p.W231*|MLST8_uc002cpb.3_Nonsense_Mutation_p.W296*|MLST8_uc002coz.3_Nonsense_Mutation_p.W297*|MLST8_uc002cpe.3_Nonsense_Mutation_p.W297*|MLST8_uc002cpf.3_Nonsense_Mutation_p.W297*|MLST8_uc002cph.3_Non-coding_Transcript NM_001199173 NP_001186102 Q9BVC4 LST8_HUMAN Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 2, mRNA. 297 T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 GCCCGGCTCTGGTGTGTGGAGA 0.624000 86 82 0 0 0.004672 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171436 39171436 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:39171436G>A uc004abi.3 - 7 1502 c.1263C>T c.(1261-1263)ctC>ctT p.L421L CNTNAP3_uc004abj.3_Silent_p.L421L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.L421L|CNTNAP3_uc011lqs.1_Silent_p.L421L NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 421 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCTTAAGAAAGAGGACGAAAC 0.478000 47 38 0 0 0.006999 0 0 TEX15 56154 broad.mit.edu 37 8 30705003 30705003 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:30705003C>T uc003xil.3 - 0 1531 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 511 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTGAAATTTTCGTTTGTATGA 0.303000 46 38 0 0 0.004878 0 0 NCALD 83988 broad.mit.edu 37 8 102731743 102731743 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:102731743G>A uc003yke.3 - 1 484 c.115C>T c.(115-117)Ccc>Tcc p.P39S NCALD_uc003ykf.3_Missense_Mutation_p.P39S|NCALD_uc003ykg.3_Missense_Mutation_p.P39S|NCALD_uc003ykh.3_Missense_Mutation_p.P39S|NCALD_uc003yki.3_Missense_Mutation_p.P39S|NCALD_uc003ykj.3_Missense_Mutation_p.P39S|NCALD_uc003ykk.3_Missense_Mutation_p.P39S|NCALD_uc003ykl.3_Missense_Mutation_p.P39S NM_032041 NP_114430 P61601 NCALD_HUMAN Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA. 39 EF-hand 1. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) TGTCCACTGGGGCAGTCTCTC 0.468000 65 51 0 0 0.014410 0 0 RXFP2 122042 broad.mit.edu 37 13 32366148 32366148 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:32366148G>A uc001utt.3 + 14 1422 c.1351G>A c.(1351-1353)Gct>Act p.A451T RXFP2_uc010aba.3_Missense_Mutation_p.A427T NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 451 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TACAACTCACGCTATGTCCAT 0.328000 28 25 0 0 0.004656 0 0 TXNRD3NB 645840 broad.mit.edu 37 3 126291117 126291117 + Silent SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:126291117A>T uc003ejc.3 - 2 827 c.270T>A c.(268-270)ctT>ctA p.L90L NM_001039783 NP_001034872 Q6F5E7 TR3N_HUMAN Homo sapiens thioredoxin reductase 3 neighbor (TXNRD3NB), mRNA. 90 endometrium(1)|large_intestine(2)|skin(2) 5 gctctccagaaagacattttg 0.542000 18 13 0 0 0.001855 0 0 ATAD5 79915 broad.mit.edu 37 17 29170935 29170935 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:29170935C>T uc002hfs.1 + 4 2589 c.2246C>T c.(2245-2247)tCt>tTt p.S749F ATAD5_uc002hft.1_Missense_Mutation_p.S646F NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 749 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCTTAGGATTCTGTTATAATA 0.264000 25 35 0 0 0.013726 0 0 SEC24A 10802 broad.mit.edu 37 5 134010889 134010889 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:134010889A>T uc003kzs.3 + 5 1425 c.1133A>T c.(1132-1134)aAa>aTa p.K378I SEC24A_uc021ydr.1_Missense_Mutation_p.K378I|SEC24A_uc011cxu.2_Missense_Mutation_p.K142I NM_021982 NP_068817 O95486 SC24A_HUMAN Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA. 378 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACATCCAGAAACTCAACTGT 0.423000 26 22 0 0 0.008361 0 0 ACAN 176 broad.mit.edu 37 15 89388938 89388938 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:89388938C>T uc010upo.1 + 6 1628 c.1254C>T c.(1252-1254)ttC>ttT p.F418F ACAN_uc002bmx.3_Silent_p.F418F|ACAN_uc010upp.1_Silent_p.F418F|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 418 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGGAGCCCTTCACGTTTGCCC 0.617000 11 8 0 0 0.004482 0 0 BMP1 649 broad.mit.edu 37 8 22049630 22049630 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:22049630C>T uc003xbg.3 + 8 1412 c.1146C>T c.(1144-1146)gtC>gtT p.V382V BMP1_uc003xbf.3_Silent_p.V131V|BMP1_uc003xbb.3_Silent_p.V382V|BMP1_uc003xbc.3_Silent_p.V131V|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.V131V|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 382 CUB 1. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) ATGTGGAGGTCCGAGATGGCT 0.612000 36 28 0 0 0.008361 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049520 36049520 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:36049520C>T uc003jjz.2 - 3 446 c.314G>A c.(313-315)gGa>gAa p.G105E UGT3A2_uc011cos.2_Missense_Mutation_p.G71E|UGT3A2_uc011cot.2_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 105 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCAAATTTTCCTCTGTAAGA 0.284000 24 19 0 0 0.012319 0 0 PIEZO2 63895 broad.mit.edu 37 18 10671737 10671737 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:10671737C>T uc002kos.2 - 51 8220 c.8046G>A c.(8044-8046)ggG>ggA p.G2682G PIEZO2_uc002koq.3_Silent_p.G474G NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA. 2682 integral to membrane ion channel activity GGACAAATTTCCCAATCACAA 0.333000 30 40 0 0 0.010771 0 0 KYNU 8942 broad.mit.edu 37 2 143685263 143685263 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:143685263G>A uc010fnm.3 + 4 542 c.326G>A c.(325-327)tGg>tAg p.W109* KYNU_uc002tvk.3_Nonsense_Mutation_p.W109*|KYNU_uc002tvl.3_Nonsense_Mutation_p.W109* NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 109 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AAGCGTCCTTGGATTACAGGA 0.358000 52 34 0 0 0.006999 0 0 BTK 695 broad.mit.edu 37 X 100611058 100611058 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:100611058C>T uc010nno.2 - 14 1883 c.1650G>A c.(1648-1650)caG>caA p.Q550Q BTK_uc004ehf.2_Silent_p.Q16Q|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.Q86Q|BTK_uc004ehg.2_Silent_p.Q516Q|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Silent_p.Q516Q NM_000061 NP_000052 Q06187 BTK_HUMAN Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA. 516 Protein kinase. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GGTGAAGGAACTGCTTTGACT 0.517000 Agammaglobulinemia, X-linked 82 61 0 0 0.014410 0 0 ATAD1 84896 broad.mit.edu 37 10 89550090 89550090 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:89550090G>A uc001kez.1 - 3 738 c.359C>T c.(358-360)tCc>tTc p.S120F ATAD1_uc010qmr.1_Missense_Mutation_p.S62F|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Missense_Mutation_p.S120F NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA. 120 peroxisome ATP binding|nucleoside-triphosphatase activity kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) CAGAAGCCTGGAATTCTCAAA 0.368000 33 24 0 0 0.004656 0 0 NUP210L 91181 broad.mit.edu 37 1 154090246 154090246 + Silent SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:154090246A>T uc001fdw.3 - 11 1647 c.1575T>A c.(1573-1575)gtT>gtA p.V525V NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.V525V NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 525 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTCGGGCCAAAACAGTACTAT 0.423000 4 126 0 0 0.014410 0 0 IL32 9235 broad.mit.edu 37 16 3117463 3117463 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3117463C>T uc002ctq.3 + 2 196 c.101C>T c.(100-102)tCa>tTa p.S34L IL32_uc002ctn.3_Intron|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.S34L|IL32_uc010uwp.2_Intron|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Intron|IL32_uc002ctm.3_Intron|IL32_uc002ctp.3_Intron|IL32_uc010uwq.1_Missense_Mutation_p.S34L|IL32_uc002ctr.3_Intron|IL32_uc002ctt.3_Intron|IL32_uc010uwr.2_Intron|IL32_uc002ctu.3_Intron|IL32_uc021tbc.1_Intron NM_004221 NP_004212 P24001 IL32_HUMAN Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA. 34 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 GCCTGGGTCTCAGCGTGTGAC 0.592000 45 36 0 0 0.004289 0 0 BRK1 55845 broad.mit.edu 37 3 10157502 10157502 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:10157502C>T uc003bvb.3 + 1 171 c.118_splice c.e1+1 p.D40_splice NM_018462 NP_060932 Q8WUW1 BRK1_HUMAN Homo sapiens BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1), mRNA. 40 cytoplasm|cytoskeleton breast(1)|skin(1) 2 TCAACTCGTTCGGTCAGCGGG 0.612000 19 23 0 0 0.003330 0 0 TSIX 9383 broad.mit.edu 37 X 73046495 73046495 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:73046495C>T uc004ebn.2 + 0 c.34456C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. CTTGGGATTTCCCCAGGTCTT 0.443000 76 72 0 0 0.014410 0 0 FRAS1 80144 broad.mit.edu 37 4 79204065 79204065 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:79204065C>T uc003hlb.2 + 11 1639 c.1199C>T c.(1198-1200)cCa>cTa p.P400L FRAS1_uc003hkw.3_Missense_Mutation_p.P400L|FRAS1_uc003hky.1_Missense_Mutation_p.P104L|FRAS1_uc003hkz.3_Missense_Mutation_p.P104L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 400 VWFC 6. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCACCATGTCCAGTGGGCACA 0.552000 25 18 0 0 0.006122 0 0 CYP4V2 285440 broad.mit.edu 37 4 187130396 187130396 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:187130396C>T uc003iyw.4 + 9 1679 c.1375C>T c.(1375-1377)Ccc>Tcc p.P459S CYP4V2_uc010ism.3_Non-coding_Transcript NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA. 459 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) TGCCTACGTGCCCTTCTCTGC 0.522000 40 37 0 0 0.007835 0 0 SYBU 55638 broad.mit.edu 37 8 110598301 110598301 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:110598301G>A uc010mcp.3 - 4 880 c.518C>T c.(517-519)tCt>tTt p.S173F SYBU_uc003yni.4_Missense_Mutation_p.S170F|SYBU_uc003ynk.4_Missense_Mutation_p.S54F|SYBU_uc003ynj.4_Missense_Mutation_p.S173F|SYBU_uc010mco.3_Missense_Mutation_p.S172F|SYBU_uc003ynl.4_Missense_Mutation_p.S172F|SYBU_uc010mcq.3_Missense_Mutation_p.S173F|SYBU_uc003yno.4_Missense_Mutation_p.S54F|SYBU_uc010mcr.3_Missense_Mutation_p.S173F|SYBU_uc003ynm.4_Missense_Mutation_p.S172F|SYBU_uc003ynn.4_Missense_Mutation_p.S172F|SYBU_uc010mcs.3_Missense_Mutation_p.S54F|SYBU_uc010mct.3_Missense_Mutation_p.S173F|SYBU_uc010mcu.3_Missense_Mutation_p.S172F|SYBU_uc003ynp.4_Missense_Mutation_p.S105F|SYBU_uc010mcv.3_Missense_Mutation_p.S173F|SYBU_uc011lhw.2_Missense_Mutation_p.S43F NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 173 Ser-rich.|Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GCGTGAAGAAGAAGACCGCTT 0.507000 5 5 0 0 0.001984 0 0 TCF4 6925 broad.mit.edu 37 18 52937091 52937091 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:52937091G>A uc002lga.3 - 11 1259 c.1199C>T c.(1198-1200)cCt>cTt p.P400L TCF4_uc021ukg.1_Missense_Mutation_p.P138L|TCF4_uc021ukh.1_Missense_Mutation_p.P138L|TCF4_uc002lfw.4_Missense_Mutation_p.P138L|TCF4_uc010xdu.1_Missense_Mutation_p.P168L|TCF4_uc010xdv.1_Missense_Mutation_p.P168L|TCF4_uc021uki.1_Missense_Mutation_p.P227L|TCF4_uc002lfx.2_Missense_Mutation_p.P227L|TCF4_uc010xdw.1_Missense_Mutation_p.P168L|TCF4_uc002lfy.2_Missense_Mutation_p.P256L|TCF4_uc010xdx.1_Missense_Mutation_p.P274L|TCF4_uc021ukj.1_Missense_Mutation_p.P238L|TCF4_uc021ukk.1_Missense_Mutation_p.P238L|TCF4_uc021ukl.1_Missense_Mutation_p.P296L|TCF4_uc002lfz.2_Missense_Mutation_p.P298L|TCF4_uc010dph.1_Missense_Mutation_p.P298L|TCF4_uc010dpi.3_Missense_Mutation_p.P304L|TCF4_uc010xdy.1_Missense_Mutation_p.P274L|TCF4_uc002lgc.4_Missense_Mutation_p.P219L NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 298 Leucine-zipper. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GTTGGCAGGAGGCGTACAGGA 0.453000 27 25 0 0 0.003954 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140216051 140216051 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140216051G>A uc003lhq.2 + 0 2083 c.2083G>A c.(2083-2085)Gat>Aat p.D695N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.D695N NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 703 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGCTGGTGGATGTCAACGT 0.637000 48 41 0 0 0.009718 0 0 SMR3A 26952 broad.mit.edu 37 4 71232442 71232442 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:71232442G>A uc003hfg.1 + 2 217 c.136G>A c.(136-138)Gga>Aga p.G46R SMR3A_uc011cas.2_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA. 46 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TTTTCCTTTTGGAACAGGATT 0.547000 57 24 0 0 0.003330 0 0 APOB 338 broad.mit.edu 37 2 21236264 21236264 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:21236264G>A uc002red.3 - 24 4112 c.3984C>T c.(3982-3984)ttC>ttT p.F1328F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1328 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) ATGGCAGATGGAATCCCACAG 0.468000 245 188 0 0 0.014410 0 0 WIF1 11197 broad.mit.edu 37 12 65471619 65471619 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:65471619C>T uc001ssk.3 - 2 679 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA. 102 WIF. Wnt receptor signaling pathway|multicellular organismal development extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GACAGGAATTCATAGAAGTAT 0.512000 T HMGA2 pleomorphic salivary gland adenoma 17 19 0 0 0.014323 0 0 PRKCD 5580 broad.mit.edu 37 3 53217545 53217545 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:53217545C>T uc003dgl.3 + 8 1088 c.735C>T c.(733-735)gaC>gaT p.D245D PRKCD_uc003dgm.3_Silent_p.D245D|PRKCD_uc010hmt.1_Silent_p.D17D NM_006254 NP_997704 Q05655 KPCD_HUMAN Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA. 245 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CCTTCTGTGACCACTGCGGCA 0.607000 35 25 0 0 0.007291 0 0 MAPK4 5596 broad.mit.edu 37 18 48190460 48190460 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:48190460G>A uc002lev.3 + 1 1132 c.132G>A c.(130-132)cgG>cgA p.R44R MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.R44R NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 44 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GGGCCTGCCGGAAGGTCGCTG 0.602000 40 31 0 0 0.003271 0 0 GHSR 2693 broad.mit.edu 37 3 172165940 172165940 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:172165940G>A uc003fib.2 - 0 307 c.264C>T c.(262-264)tcC>tcT p.S88S GHSR_uc011bpv.2_Silent_p.S88S NM_198407 NP_940799 Q92847 GHSR_HUMAN Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. 88 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) TGAGCAGATCGGAGAAGGCCA 0.617000 28 19 0 0 0.012319 0 0 CLDN10 9071 broad.mit.edu 37 13 96205164 96205164 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:96205164T>G uc001vmh.2 + 0 218 c.157T>G c.(157-159)Tgc>Ggc p.C53G CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron NM_006984 NP_008915 P78369 CLD10_HUMAN Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA. 53 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GTGGAAGGCGTGCGTTACCGA 0.647000 15 19 0 0 0.002780 0 0 MUC17 140453 broad.mit.edu 37 7 100681034 100681034 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:100681034C>T uc003uxp.1 + 2 6390 c.6337C>T c.(6337-6339)Ccg>Tcg p.P2113S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2113 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCACCACGCCGGTGGCCAG 0.498000 182 222 0 0 0.014410 0 0 PHLPP1 23239 broad.mit.edu 37 18 60497326 60497326 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:60497326C>T uc021ule.1 + 1 1880 c.1635C>T c.(1633-1635)gtC>gtT p.V545V NM_194449 NP_919431 O60346 PHLP1_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA. 545 PH. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 TGTATAATGTCCGTAAAGGCA 0.438000 15 10 0 0 0.010729 0 0 CD109 135228 broad.mit.edu 37 6 74516767 74516767 + Missense_Mutation SNP C T T rs141815508 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:74516767C>T uc003php.3 + 24 3592 c.3161C>T c.(3160-3162)aCt>aTt p.T1054I CD109_uc003phq.3_Missense_Mutation_p.T1054I|CD109_uc010kba.3_Missense_Mutation_p.T977I NM_133493 NP_598000 Q6YHK3 CD109_HUMAN Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. 1054 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TATATTGTAACTTCTCTCCTG 0.363000 3 14 0 0 0.004007 0 0 OR5V1 81696 broad.mit.edu 37 6 29323340 29323340 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:29323340G>A uc011dlo.2 - 0 715 c.633C>T c.(631-633)ttC>ttT p.F211F NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 CGATACAAAGGAAAGGAGTCC 0.478000 76 35 0 0 0.005524 0 0 DYDC2 84332 broad.mit.edu 37 10 82122713 82122713 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:82122713G>A uc001kca.1 + 3 534 c.154G>A c.(154-156)Gaa>Aaa p.E52K DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.E52K NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA. 52 protein binding breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) CCAGAATAGGGAAAAGAAGAT 0.493000 90 62 0 0 0.014410 0 0 ANK3 288 broad.mit.edu 37 10 61831521 61831521 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:61831521C>T uc001jky.3 - 36 9456 c.9118G>A c.(9118-9120)Gaa>Aaa p.E3040K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3040 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTTTCGGTTTCCTCGAGAGGT 0.423000 54 44 0 0 0.014410 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000375 41000375 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:41000375C>T uc003jmj.4 - 38 4919 c.4429G>A c.(4429-4431)Gat>Aat p.D1477N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D1032N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1477 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 AGATCCTGATCAAGGAGACGG 0.502000 37 26 0 0 0.005443 0 0 HTR4 3360 broad.mit.edu 37 5 147830769 147830769 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:147830769T>C uc021yfh.1 - 5 1190 c.1143A>G c.(1141-1143)gaA>gaG p.E381E HTR4_uc021yfg.1_3'UTR|HTR4_uc010jgu.1_Non-coding_Transcript NM_001040169 NP_001035259 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant a, mRNA. 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) ATTCCAGGGATTCTGGGTCAT 0.463000 141 121 0 0 0.014410 0 0 TEX14 56155 broad.mit.edu 37 17 56688526 56688526 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:56688526C>T uc010dcz.2 - 9 1316 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K TEX14_uc002iwr.2_Missense_Mutation_p.E394K|TEX14_uc002iws.2_Missense_Mutation_p.E394K|TEX14_uc010dda.2_Missense_Mutation_p.E174K NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 400 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCCCACCTTTCCAACATGTAC 0.527000 86 63 0 0 0.014410 0 0 MAL2 114569 broad.mit.edu 37 8 120233971 120233971 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:120233971C>T uc003yop.3 + 2 379 c.277C>T c.(277-279)Caa>Taa p.Q93* NM_052886 NP_443118 Q969L2 MAL2_HUMAN Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA. 93 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) CATGGTGGCTCAAATTGATGC 0.438000 48 48 0 0 0.014410 0 0 RNF19A 25897 broad.mit.edu 37 8 101270989 101270989 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:101270989G>A uc003yjj.1 - 10 2629 c.2312C>T c.(2311-2313)tCc>tTc p.S771F RNF19A_uc003yjk.1_Missense_Mutation_p.S771F NM_015435 NP_904355 Q9NV58 RN19A_HUMAN Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA. 771 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CTGATGTGGGGAATTTTCCAG 0.403000 35 24 0 0 0.002780 0 0 LDB3 11155 broad.mit.edu 37 10 88476342 88476342 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:88476342C>T uc001kdv.3 + 8 1513 c.1490C>T c.(1489-1491)tCc>tTc p.S497F LDB3_uc010qml.1_Missense_Mutation_p.S434F|LDB3_uc010qmm.2_Missense_Mutation_p.S502F|LDB3_uc009xsz.3_Missense_Mutation_p.S126F|LDB3_uc001kdu.3_Missense_Mutation_p.S387F|LDB3_uc009xta.2_5'Flank NM_007078 NP_009009 O75112 LDB3_HUMAN Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA. 497 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GATAGCTTCTCCCAGAAGTTT 0.667000 57 36 0 0 0.006999 0 0 FBXO40 51725 broad.mit.edu 37 3 121341303 121341303 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:121341303G>A uc003eeg.2 + 2 1237 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 343 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGAGGCTCAGGAAGTTAAGAC 0.473000 28 28 0 0 0.004656 0 0 RELN 5649 broad.mit.edu 37 7 103294586 103294586 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:103294586C>T uc022ajr.1 - 12 1668 c.1508G>A c.(1507-1509)aGa>aAa p.R503K RELN_uc022ajq.1_Missense_Mutation_p.R503K|RELN_uc010liz.3_Missense_Mutation_p.R503K NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 503 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGCTCTTTTCTTCCTTCAAT 0.398000 40 53 0 0 0.014410 0 0 ZNF559 84527 broad.mit.edu 37 19 9453349 9453349 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9453349C>T uc002mle.4 + 5 1821 c.1414C>T c.(1414-1416)Ccc>Tcc p.P472S ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.P366S|ZNF559_uc010xkn.2_Missense_Mutation_p.P400S|ZNF559_uc021uok.1_Missense_Mutation_p.P408S|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron NM_001202406 NP_001189335 Q9BR84 ZN559_HUMAN Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA. 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TGGTGTAAAACCCTATGACTG 0.408000 43 21 0 0 0.012319 0 0 TMC3 342125 broad.mit.edu 37 15 81654585 81654585 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:81654585C>T uc021ssk.1 - 3 370 c.370G>A c.(370-372)Gaa>Aaa p.E124K TMC3_uc021ssj.1_Missense_Mutation_p.E124K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E124K NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 124 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ATCCTCATTTCCCAGGGAATG 0.483000 6 7 0 0 0.001984 0 0 HMGN5 79366 broad.mit.edu 37 X 80370690 80370690 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:80370690C>T uc004eee.1 - 6 636 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_030763 NP_110390 P82970 HMGN5_HUMAN Homo sapiens high mobility group nucleosome binding domain 5 (HMGN5), mRNA. 103 chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|nucleolus DNA binding|chromatin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 10 TCAATATTTTCTTCTTTTACT 0.348000 8 10 0 0 0.008291 0 0 PCDH18 54510 broad.mit.edu 37 4 138451460 138451460 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:138451460C>T uc003ihe.4 - 0 2170 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K PCDH18_uc003ihf.4_Missense_Mutation_p.E588K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E375K|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 595 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AAGCCACTTTCAGCCCCTTTG 0.453000 104 90 0 0 0.014410 0 0 HDHD1 8226 broad.mit.edu 37 X 6968386 6968386 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:6968386G>A uc004crv.2 - 3 715 c.638C>T c.(637-639)tCc>tTc p.S213F HDHD1_uc011mhm.1_Missense_Mutation_p.S236F|HDHD1_uc011mhn.1_Missense_Mutation_p.S170F|HDHD1_uc010ndl.2_3'UTR NM_012080 NP_036212 Q08623 HDHD1_HUMAN Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA. 213 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 GTCCTGCAGGGAATTCAGCAC 0.612000 14 20 0 0 0.012319 0 0 SOX13 9580 broad.mit.edu 37 1 204093774 204093774 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:204093774C>T uc001ham.3 + 12 1976 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C SOX13_uc010pqp.2_Missense_Mutation_p.R460C|SOX13_uc010pqq.2_Missense_Mutation_p.R328C NM_005686 NP_005677 Q9UN79 SOX13_HUMAN Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA. 461 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GTCAGGATCTCGCTGGAAGTC 0.607000 0 20 0 0 0.002780 0 0 CNR2 1269 broad.mit.edu 37 1 24201950 24201950 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:24201950G>A uc021oij.1 - 0 158 c.158C>T c.(157-159)gCt>gTt p.A53V CNR2_uc001bif.3_Missense_Mutation_p.A53V NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 53 G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) ATAGAGCACAGCCACGTTCTC 0.562000 2 49 0 0 0.014410 0 0 HS2ST1 9653 broad.mit.edu 37 1 87570169 87570169 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:87570169T>C uc010osk.2 + 6 1246 c.861T>C c.(859-861)ctT>ctC p.L287L HS2ST1_uc001dme.2_Intron NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA. 287 Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5) 9 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) AATCTCATCTTAGGAAAACCA 0.353000 4 64 0 0 0.014410 0 0 AGBL2 79841 broad.mit.edu 37 11 47689234 47689234 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:47689234C>T uc001ngg.3 - 15 2531 c.2229G>A c.(2227-2229)aaG>aaA p.K743K AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.K705K NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA. 743 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TAAACATCTTCTTTTTCTGAG 0.378000 33 25 0 0 0.003954 0 0 PMP2 5375 broad.mit.edu 37 8 82356784 82356784 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:82356784C>T uc003ycb.1 - 2 397 c.299G>A c.(298-300)gGc>gAc p.G100D PMP2_uc010lzv.1_Non-coding_Transcript NM_002677 NP_002668 P02689 MYP2_HUMAN Homo sapiens peripheral myelin protein 2 (PMP2), mRNA. 100 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) TGTCTCTTTGCCATCCCATCT 0.378000 47 18 0 0 0.008871 0 0 ZBTB41 360023 broad.mit.edu 37 1 197160868 197160868 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:197160868T>A uc001gtx.1 - 1 1351 c.1282A>T c.(1282-1284)Aat>Tat p.N428Y ZBTB41_uc009wyz.1_Non-coding_Transcript NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA. 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 TGAAGTTTATTACAATAAGGG 0.343000 33 27 0 0 0.005443 0 0 GRK7 131890 broad.mit.edu 37 3 141535598 141535598 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:141535598G>A uc011bnd.2 + 3 1452 c.1368G>A c.(1366-1368)acG>acA p.T456T NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA. 456 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TCTTTAAAACGATCAACTTTC 0.423000 65 44 0 0 0.014410 0 0 DCC 1630 broad.mit.edu 37 18 50912481 50912481 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:50912481G>A uc002lfe.2 + 15 3044 c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K DCC_uc010xdr.1_Missense_Mutation_p.E658K|DCC_uc010dpf.2_Missense_Mutation_p.E465K NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 810 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCTCTTTATGAAAGTGCCAC 0.343000 41 24 0 0 0.004656 0 0 KRT4 3851 broad.mit.edu 37 12 53207559 53207559 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:53207559C>T uc001saz.3 - 0 506 c.506G>A c.(505-507)gGt>gAt p.G169D NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 95 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GCCACCCTTACCACTGAAGGA 0.617000 24 13 0 0 0.004007 0 0 RNASE8 122665 broad.mit.edu 37 14 21526300 21526300 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:21526300G>T uc010tlm.2 + 0 249 c.249G>T c.(247-249)caG>caT p.Q83H NDRG2_uc010tll.2_Intron NM_138331 NP_612204 Q8TDE3 RNAS8_HUMAN Homo sapiens ribonuclease, RNase A family, 8 (RNASE8), mRNA. 83 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0188) TCACCTGCCAGACCCCCAACA 0.547000 47 25 1.04121e-07 1.40477e-07 0.005443 1 0 SDR16C5 195814 broad.mit.edu 37 8 57221505 57221505 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:57221505C>T uc010lyk.1 - 3 1185 c.547G>A c.(547-549)Gga>Aga p.G183R SDR16C5_uc003xsy.1_Missense_Mutation_p.G183R|SDR16C5_uc010lyl.1_Missense_Mutation_p.G139R NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 183 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity p.S182G(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 CCATTTACTCCACTTAATCCA 0.348000 28 39 0 0 0.008740 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634556 178634556 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:178634556C>T uc003mjw.3 - 3 951 c.849G>A c.(847-849)ggG>ggA p.G283G ADAMTS2_uc011dgm.2_Silent_p.G283G NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 283 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGTGCTCCTTCCCGTGGAACT 0.632000 44 57 0 0 0.014410 0 0 UBE2D1 7321 broad.mit.edu 37 10 60124590 60124590 + Silent SNP C T T rs144227480 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:60124590C>T uc001jke.2 + 4 481 c.258C>T c.(256-258)ctC>ctT p.L86L UBE2D1_uc021prc.1_Silent_p.L48L NM_003338 NP_003329 P51668 UB2D1_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBE2D1), transcript variant 1, mRNA. 86 BMP signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2) 10 GTATTTGTCTCGATATTCTGA 0.323000 34 28 0 0 0.009535 0 0 TRIM21 6737 broad.mit.edu 37 11 4406957 4406957 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4406957G>A uc001lyy.1 - 6 1099 c.986C>T c.(985-987)cCt>cTt p.P329L NM_003141 NP_003132 P19474 RO52_HUMAN Homo sapiens tripartite motif containing 21 (TRIM21), mRNA. 329 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CAGGACCATAGGATAACTATC 0.507000 4 5 0 0 0.001168 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41751783 41751783 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:41751783C>T uc003azw.3 + 18 2407 c.2191C>T c.(2191-2193)Ctt>Ttt p.L731F NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 747 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GCGGCGGGTCCTTCTGGTGAT 0.602000 9 10 0 0 0.008291 0 0 SMOC1 64093 broad.mit.edu 37 14 70459159 70459159 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:70459159G>A uc001xlt.2 + 5 834 c.552G>A c.(550-552)acG>acA p.T184T SMOC1_uc001xls.2_Silent_p.T184T NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 184 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CGACACCCACGATGGAGACCC 0.438000 33 24 0 0 0.007291 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64506176 64506176 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:64506176C>T uc002anf.3 - 5 1072 c.592G>A c.(592-594)Gaa>Aaa p.E198K CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.E198K|CSNK1G1_uc002anh.1_Missense_Mutation_p.E198K|CSNK1G1_uc002anj.3_Missense_Mutation_p.E180K NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA. 198 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.P197P(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 TTTTTGGTTTCGGGGTCAATG 0.393000 82 74 0 0 0.014410 0 0 EPB49 2039 broad.mit.edu 37 8 21938320 21938320 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:21938320G>A uc022asw.1 + 12 1000 c.962G>A c.(961-963)gGa>gAa p.G321E EPB49_uc022asq.1_Intron|EPB49_uc022asr.1_Silent_p.R318R|EPB49_uc022ass.1_Intron|EPB49_uc022ast.1_Silent_p.R318R|EPB49_uc022asu.1_Silent_p.R318R|EPB49_uc022asv.1_Intron|EPB49_uc022asx.1_Intron|EPB49_uc022asy.1_Intron NM_001978 NP_001969 Q08495 DEMA_HUMAN Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA. 321 actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 10 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) CCCCAGAACGGAGAGGGCCAG 0.667000 9 7 0 0 0.003080 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269557 150269557 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:150269557C>T uc003whl.3 + 2 481 c.399C>T c.(397-399)gcC>gcT p.A133A GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.A147A NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 133 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCACAAAGCCACAGAGAAGA 0.483000 34 53 0 0 0.014410 0 0 SKOR1 390598 broad.mit.edu 37 15 68125554 68125554 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:68125554A>C uc002aqy.1 + 8 2630 c.2630A>C c.(2629-2631)cAg>cCg p.Q877P NM_001031807 NP_001026977 P84550 SKOR1_HUMAN Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA. 921 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus SMAD binding|nucleotide binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 GAACTCGACCAGGAGCGGAAG 0.617000 28 16 0 0 0.010504 0 0 SNTG2 54221 broad.mit.edu 37 2 1263153 1263153 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:1263153C>T uc002qwq.3 + 12 1146 c.1017C>T c.(1015-1017)ttC>ttT p.F339F SNTG2_uc010ewi.3_Silent_p.F212F NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 339 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding 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) TGAGCACATTCGATTGGGTGC 0.383000 29 27 0 0 0.009535 0 0 OSBPL6 114880 broad.mit.edu 37 2 179247909 179247909 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179247909G>A uc002uly.3 + 17 2399 c.1855G>A c.(1855-1857)Gag>Aag p.E619K MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.E594K|OSBPL6_uc010zfe.2_Missense_Mutation_p.E563K|OSBPL6_uc002ulz.3_Missense_Mutation_p.E558K|OSBPL6_uc002uma.3_Missense_Mutation_p.E598K NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 594 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GGAGCTAAACGAGCCGCTCAA 0.478000 19 22 0 0 0.002780 0 0 HMGB4 127540 broad.mit.edu 37 1 34330057 34330057 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:34330057G>A uc021oky.1 + 0 265 c.265G>A c.(265-267)Gat>Aat p.D89N CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.D89N|HMGB4_uc001bxq.3_Missense_Mutation_p.D15N NM_145205 NP_660206 B2R4X7 B2R4X7_HUMAN Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA. 89 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GAGAAAGCGGGATCCCCAGGA 0.517000 7 81 0 0 0.014410 0 0 PPIL2 23759 broad.mit.edu 37 22 22036806 22036806 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:22036806C>T uc010gtj.1 + 7 584 c.468C>T c.(466-468)atC>atT p.I156I PPIL2_uc002zvh.4_Silent_p.I156I|PPIL2_uc002zvi.4_Silent_p.I156I|PPIL2_uc002zvg.4_Silent_p.I156I|PPIL2_uc011aij.2_Silent_p.I135I NM_148175 NP_680480 Q13356 PPIL2_HUMAN Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA. 156 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) AGGACATCATCACCCTCCAGG 0.637000 13 15 0 0 0.003163 0 0 EFHC1 114327 broad.mit.edu 37 6 52303121 52303121 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:52303121A>G uc003pap.4 + 2 520 c.305A>G c.(304-306)tAt>tGt p.Y102C EFHC1_uc011dwv.1_Missense_Mutation_p.Y11C|EFHC1_uc011dww.2_Missense_Mutation_p.Y83C NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. 102 DM10 1. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) TTTGATGCCTATTTCCAAGAA 0.363000 13 12 0 0 0.013537 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533826 156533826 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:156533826C>T uc003lwk.2 - 1 460 c.206G>A c.(205-207)aGg>aAg p.R69K HAVCR2_uc003lwl.3_Missense_Mutation_p.R69K NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA. 69 Ig-like V-type. integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCATCAGTCCTGAGCACCAC 0.537000 317 301 0 0 0.014410 0 0 CFTR 1080 broad.mit.edu 37 7 117232512 117232512 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:117232512G>A uc003vjd.3 + 13 2423 c.2291G>A c.(2290-2292)cGa>cAa p.R764Q CFTR_uc011knq.2_Missense_Mutation_p.R170Q NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 764 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding p.R764*(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTTCAGGCACGAAGGAGGCAG 0.532000 Cystic Fibrosis 22 11 0 0 0.008291 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540261 169540261 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:169540261C>T uc003fgb.3 + 0 552 c.552C>T c.(550-552)ctC>ctT p.L184L NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA. 184 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 CCCAGGAGCTCTGTGTTCTCT 0.493000 47 42 0 0 0.006999 0 0 TMEM26 219623 broad.mit.edu 37 10 63188716 63188716 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:63188716G>A uc001jlo.2 - 3 942 c.573C>T c.(571-573)ttC>ttT p.F191F TMEM26_uc001jlq.3_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 191 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TCTCACTTGTGAATTCCAGTA 0.463000 31 21 0 0 0.004656 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8650481 8650481 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:8650481C>T uc002mkj.1 - 22 2998 c.2724G>A c.(2722-2724)tcG>tcA p.S908S ADAMTS10_uc002mki.1_Silent_p.S395S|ADAMTS10_uc002mkk.1_Silent_p.S540S NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 908 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGCACACGACCGAGCGGCTGC 0.682000 11 8 0 0 0.004482 0 0 FASTK 10922 broad.mit.edu 37 7 150775013 150775013 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:150775013C>T uc003wix.1 - 4 1090 c.992G>A c.(991-993)aGa>aAa p.R331K AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R92K|FASTK_uc003wiy.1_Missense_Mutation_p.R190K|FASTK_uc003wiz.1_Missense_Mutation_p.R304K|FASTK_uc003wja.1_3'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA. 331 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GTGCAGGGCTCTGAAGGGCAG 0.607000 21 48 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 14 106926618 106926618 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:106926618G>A uc021ser.1 - 324 c.11353C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.473000 104 53 0 0 0.014410 0 0 VGLL3 389136 broad.mit.edu 37 3 87017746 87017746 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:87017746C>T uc003dqn.3 - 2 1295 c.931G>A c.(931-933)Gat>Aat p.D311N NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.D311N(2) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TTACCTGTATCGAATCCCACG 0.393000 30 30 0 0 0.013726 0 0 RRP1 8568 broad.mit.edu 37 21 45215096 45215096 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:45215096C>T uc002zds.2 + 4 480 c.387C>T c.(385-387)tcC>tcT p.S129S RRP1_uc011aez.1_Silent_p.S129S|RRP1_uc010gpl.1_Silent_p.S27S|RRP1_uc010gpm.1_5'Flank NM_003683 NP_003674 P56182 RRP1_HUMAN Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA. 129 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGAACGAGTCCTTGAAGGTTC 0.587000 49 34 0 0 0.004289 0 0 MMP14 4323 broad.mit.edu 37 14 23313662 23313662 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:23313662C>G uc001whc.3 + 6 1328 c.1094C>G c.(1093-1095)cCt>cGt p.P365R NM_004995 NP_004986 P50281 MMP14_HUMAN Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA. 365 Hemopexin-like 1. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CGGGGCCTGCCTGCGTCCATC 0.557000 87 63 0 0 0.014410 0 0 OR10G2 26534 broad.mit.edu 37 14 22102815 22102815 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:22102815G>A uc010tmc.2 - 0 184 c.184C>T c.(184-186)Cgc>Tgc p.R62C NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TACATGGGGCGAGCACAGAGC 0.512000 21 34 0 0 0.003755 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600130 3600130 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:3600130A>T uc002lyg.2 - 1 890 c.503T>A c.(502-504)cTg>cAg p.L168Q TBXA2R_uc021umv.1_Missense_Mutation_p.L168Q NM_001060 NP_001051 P21731 TA2R_HUMAN Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA. 168 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CACGCCCAGCAGGGGCAGCAG 0.761000 9 7 0 0 0.001984 0 0 CCDC39 339829 broad.mit.edu 37 3 180349328 180349328 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:180349328C>T uc010hxe.3 - 13 2042 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K CCDC39_uc003fkn.3_Non-coding_Transcript NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA. 643 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GTCAGAATTTCATATCTATTC 0.343000 38 29 0 0 0.007291 0 0 RRP7A 27341 broad.mit.edu 37 22 42912127 42912127 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:42912127G>A uc003bcp.3 - 0 795 c.301C>T c.(301-303)Ctc>Ttc p.L101F RRP7A_uc003bcq.3_Missense_Mutation_p.L78F NM_015703 NP_056518 Q9Y3A4 RRP7A_HUMAN Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA. 78 RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 GTGGACAGGAGGCGGGACAGG 0.622000 30 15 0 0 0.004007 0 0 FGD2 221472 broad.mit.edu 37 6 36982788 36982788 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:36982788G>A uc010jwp.1 + 7 1174 c.1003G>A c.(1003-1005)Gac>Aac p.D335N FGD2_uc003ong.2_Missense_Mutation_p.D57N|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.D141N NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 335 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CCGCCGCAACGACCCCATGGA 0.622000 34 10 0 0 0.006214 0 0 CXCR3 2833 broad.mit.edu 37 X 70837017 70837017 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:70837017A>G uc022bys.1 - 0 446 c.446T>C c.(445-447)cTg>cCg p.L149P BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.L102P|CXCR3_uc011mpx.2_Missense_Mutation_p.L149P NM_001142797 NP_001136269 P49682 CXCR3_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA. 102 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) TGTCAGCACCAGCAGCGTGTC 0.647000 17 7 0 0 0.004482 0 0 OR6C3 254786 broad.mit.edu 37 12 55725661 55725661 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:55725661C>T uc010spj.2 + 0 177 c.177C>T c.(175-177)ttC>ttT p.F59F NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TGTATTTCTTCCTCCGGAACT 0.383000 79 68 0 0 0.014410 0 0 RUNX2 860 broad.mit.edu 37 6 45514563 45514563 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:45514563G>A uc011dvx.2 + 9 1298 c.1088_splice c.e9-1 p.G363_splice RUNX2_uc011dvy.2_Splice_Site_p.G341_splice|RUNX2_uc003oxt.3_Splice_Site_p.G349_splice NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. 363 Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 ATAATTTTTAGGTGCTTCAGA 0.393000 40 35 0 0 0.006999 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12942094 12942094 + Silent SNP G A A rs148045269 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:12942094G>A uc001aun.2 - 2 527 c.456C>T c.(454-456)ttC>ttT p.F152F NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 152 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAGTTCTACGAACACAGTCA 0.498000 26 209 0 0 0.014410 0 0 NRP1 8829 broad.mit.edu 37 10 33502610 33502610 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:33502610C>T uc001iwx.4 - 8 1841 c.1318G>A c.(1318-1320)Gga>Aga p.G440R NRP1_uc001iwv.4_Missense_Mutation_p.G440R|NRP1_uc001iwy.4_Missense_Mutation_p.G440R|NRP1_uc009xlz.3_Missense_Mutation_p.G440R|NRP1_uc001iww.4_Missense_Mutation_p.G259R|NRP1_uc001iwz.2_Missense_Mutation_p.G440R|NRP1_uc001ixa.2_Missense_Mutation_p.G440R|NRP1_uc001ixb.2_Missense_Mutation_p.G440R|NRP1_uc001ixc.1_Missense_Mutation_p.G440R NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 440 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GAAATAAGTCCAGACACCATA 0.458000 50 32 0 0 0.003271 0 0 DAB1 1600 broad.mit.edu 37 1 57476871 57476871 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:57476871C>T uc009vzx.1 - 12 1839 c.1519G>A c.(1519-1521)Gac>Aac p.D507N DAB1_uc001cyt.1_Missense_Mutation_p.D505N|DAB1_uc001cyq.1_Missense_Mutation_p.D505N|DAB1_uc001cyr.1_Missense_Mutation_p.D421N|DAB1_uc009vzw.1_Missense_Mutation_p.D489N|DAB1_uc001cys.1_Missense_Mutation_p.D507N NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 540 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TCAAAGATGTCATCTGTGGTA 0.443000 5 80 0 0 0.014410 0 0 FRMD7 90167 broad.mit.edu 37 X 131212947 131212947 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:131212947C>T uc004ewn.3 - 11 1276 c.1098G>A c.(1096-1098)gtG>gtA p.V366V FRMD7_uc022cdy.1_Silent_p.V246V|FRMD7_uc011muy.2_Silent_p.V351V NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 366 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) GCACTCCATTCACATTTTGGT 0.483000 200 98 0 0 0.014410 0 0 C1orf168 199920 broad.mit.edu 37 1 57258448 57258448 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:57258448C>T uc001cym.4 - 1 444 c.38G>A c.(37-39)cGa>cAa p.R13Q C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.R13Q NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 13 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 AAATTTGGCTCGAAGTTCCTT 0.388000 13 179 0 0 0.014410 0 0 ZNF831 128611 broad.mit.edu 37 20 57766581 57766581 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:57766581G>A uc002yan.3 + 0 507 c.507G>A c.(505-507)gaG>gaA p.E169E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 169 intracellular nucleic acid binding|zinc ion binding p.G168C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACACGGGTGAGAGGCCCTTCC 0.612000 65 35 0 0 0.004878 0 0 FAM135B 51059 broad.mit.edu 37 8 139190910 139190910 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:139190910G>A uc003yuy.3 - 9 1068 c.897C>T c.(895-897)atC>atT p.I299I FAM135B_uc003yux.3_Silent_p.I200I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 299 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTGCTCAGCGATCTTCTCTG 0.502000 HNSCC(54;0.14) 28 7 0 0 0.006214 0 0 LIMK2 3985 broad.mit.edu 37 22 31669485 31669485 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:31669485C>G uc003akh.3 + 13 1751 c.1606C>G c.(1606-1608)Ctc>Gtc p.L536V LIMK2_uc003aki.3_Missense_Mutation_p.L290V|LIMK2_uc003akj.3_Missense_Mutation_p.L515V|LIMK2_uc003akk.3_Missense_Mutation_p.L515V|LIMK2_uc011aln.2_Missense_Mutation_p.L453V NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 536 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 TGGGATCGTTCTCTGTGAGGT 0.547000 OREG0026477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 27 0 0 0.012213 0 0 LRP2 4036 broad.mit.edu 37 2 169997050 169997050 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:169997050C>T uc002ues.3 - 71 13327 c.13114G>A c.(13114-13116)Gaa>Aaa p.E4372K NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4372 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATAGGCAGTTCGATGGCTGCA 0.547000 19 21 0 0 0.014323 0 0 LRRC18 474354 broad.mit.edu 37 10 50121985 50121985 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:50121985G>A uc001jhd.3 - 0 296 c.216C>T c.(214-216)ttC>ttT p.F72F WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.F72F NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 72 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GGAGGTTCTGGAACTTGGAGA 0.532000 24 23 0 0 0.003330 0 0 DSCAM 1826 broad.mit.edu 37 21 41684095 41684095 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:41684095G>A uc002yyq.1 - 8 2427 c.1975C>T c.(1975-1977)Ctc>Ttc p.L659F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 659 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATGAGCGAGAGATTGGAAATC 0.537000 34 45 0 0 0.013114 0 0 PDE8B 8622 broad.mit.edu 37 5 76715632 76715632 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:76715632G>A uc003kfa.3 + 18 2215 c.2170G>A c.(2170-2172)Gtt>Att p.V724I PDE8B_uc003kfd.3_Missense_Mutation_p.V677I|PDE8B_uc003kfe.3_Missense_Mutation_p.V627I|PDE8B_uc003kfb.3_Missense_Mutation_p.V704I|PDE8B_uc003kfc.3_Missense_Mutation_p.V669I NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 724 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TATTGACATGGTTTTGGCAAC 0.418000 267 261 0 0 0.014410 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033575 95033575 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:95033575G>A uc010avd.3 + 2 1303 c.1029G>A c.(1027-1029)cgG>cgA p.R343R SERPINA4_uc001ydk.3_Silent_p.R306R|SERPINA4_uc001ydl.3_Silent_p.R306R NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 306 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.R306R(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) ACTTGTTGCGGAAGAGGTAAT 0.438000 20 15 0 0 0.004007 0 0 TAB2 23118 broad.mit.edu 37 6 149699485 149699485 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:149699485C>T uc003qmj.3 + 2 612 c.434C>T c.(433-435)tCc>tTc p.S145F TAB2_uc011eec.2_Missense_Mutation_p.S113F|TAB2_uc010kia.1_Missense_Mutation_p.S145F|TAB2_uc010kib.2_Missense_Mutation_p.S145F|TAB2_uc003qmk.4_Non-coding_Transcript NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA. 145 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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 cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ATGTCCAGTTCCTCTGGTGCT 0.443000 4 31 0 0 0.010818 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215761 20215761 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:20215761C>T uc010tkt.2 + 0 175 c.175C>T c.(175-177)Cct>Tct p.P59S NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P59L(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTCCAATCTCCTATGTATTA 0.408000 137 71 0 0 0.014410 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870101 131870101 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:131870101C>T uc003vra.4 - 15 3344 c.3115G>A c.(3115-3117)Gac>Aac p.D1039N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1039 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ATGGTGGGGTCTTCCACATAC 0.552000 35 65 0 0 0.014410 0 0 NLRP5 126206 broad.mit.edu 37 19 56565005 56565005 + Splice_Site SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56565005T>C uc002qmj.3 + 13 3129 c.3129_splice c.e13-1 p.E1043_splice NLRP5_uc002qmi.3_Splice_Site_p.E1024_splice NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 1043 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCTTGCAGGTTGGTAAAGTG 0.532000 9 9 0 0 0.006214 0 0 ST18 9705 broad.mit.edu 37 8 53071640 53071640 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:53071640G>A uc003xqz.2 - 9 1780 c.1624C>T c.(1624-1626)Cct>Tct p.P542S ST18_uc011ldq.1_Missense_Mutation_p.P189S|ST18_uc011ldr.1_Missense_Mutation_p.P507S|ST18_uc011lds.1_Missense_Mutation_p.P447S|ST18_uc003xra.2_Missense_Mutation_p.P542S|ST18_uc003xrb.2_Missense_Mutation_p.P542S NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 542 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGTCGATTAGGAAATTTCACT 0.438000 45 37 0 0 0.004289 0 0 DCDC5 100506627 broad.mit.edu 37 11 31123807 31123807 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:31123807G>A uc009yjk.1 - 2 313 c.244C>T c.(244-246)Cca>Tca p.P82S DCDC5_uc009yjl.1_Missense_Mutation_p.P10S|DCDC5_uc001msu.2_Missense_Mutation_p.P253S NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 0 Doublecortin 1. intracellular signal transduction p.C82C(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 AAATTAATTGGAAATCCCTCA 0.308000 7 3 0 0 0.004672 0 0 SAG 6295 broad.mit.edu 37 2 234247329 234247329 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:234247329G>A uc002vuh.2 + 11 1340 c.952G>A c.(952-954)Gag>Aag p.E318K SAG_uc010zmq.1_Missense_Mutation_p.E184K NM_000541 NP_000532 P10523 ARRS_HUMAN Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA. 318 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CAGCATTAAGGAGGGCATAGA 0.567000 47 34 0 0 0.006230 0 0 FBXL13 222235 broad.mit.edu 37 7 102669159 102669159 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:102669159G>A uc003vaq.2 - 3 532 c.105C>T c.(103-105)gtC>gtT p.V35V FBXL13_uc010lir.1_Silent_p.V35V|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.V35V|FBXL13_uc003vav.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 35 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CAGCCAGGACGACATTTTCAT 0.343000 34 46 0 0 0.014410 0 0 OR1L8 138881 broad.mit.edu 37 9 125330715 125330715 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:125330715G>A uc004bmp.1 - 0 42 c.42C>T c.(40-42)atC>atT p.I14I NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTCCCAGGAGGATAAACTCGG 0.458000 1 13 0 0 0.002450 0 0 IGSF10 285313 broad.mit.edu 37 3 151154763 151154763 + Missense_Mutation SNP C T T rs146905174 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:151154763C>T uc011bod.2 - 5 7586 c.7586G>A c.(7585-7587)cGa>cAa p.R2529Q IGSF10_uc011bob.2_Missense_Mutation_p.R556Q|IGSF10_uc011boc.2_Missense_Mutation_p.R508Q NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 2529 Ig-like C2-type 12. cell differentiation|multicellular organismal development|ossification extracellular region p.R2529Q(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTTGTAATTCGGGGAGGGTA 0.478000 49 45 0 0 0.014410 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461210 141461210 + Missense_Mutation SNP G A A rs139631202 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:141461210G>A uc003yvh.2 - 1 572 c.557C>T c.(556-558)tCg>tTg p.S186L TRAPPC9_uc003yvj.2_Missense_Mutation_p.S88L|TRAPPC9_uc003yvi.1_Missense_Mutation_p.S88L NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 88 cell differentiation Golgi apparatus|endoplasmic reticulum breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GTCCTTGGCCGAGAAGCAGTC 0.577000 39 19 0 0 0.014323 0 0 C12orf35 55196 broad.mit.edu 37 12 32135303 32135303 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:32135303G>T uc001rks.3 + 3 1828 c.1414G>T c.(1414-1416)Gta>Tta p.V472L NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 472 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AACACCAACAGTAGTGGAATC 0.383000 53 36 9.04072e-19 1.2271e-18 0.003271 1 0 RYR1 6261 broad.mit.edu 37 19 38951133 38951133 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:38951133G>A uc002oit.3 + 19 2609 c.2479G>A c.(2479-2481)Gag>Aag p.E827K RYR1_uc002oiu.3_Missense_Mutation_p.E827K NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 827 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCCATCAAGGAGTATCGACG 0.637000 53 32 0 0 0.012213 0 0 TACR2 6865 broad.mit.edu 37 10 71174875 71174875 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:71174875G>A uc001jpn.2 - 1 1008 c.413C>T c.(412-414)cCc>cTc p.P138L NM_001057 NP_001048 P21452 NK2R_HUMAN Homo sapiens tachykinin receptor 2 (TACR2), mRNA. 138 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) AGGCTGGAAGGGGTGGACGAT 0.637000 23 17 0 0 0.008871 0 0 UCK2 7371 broad.mit.edu 37 1 165859599 165859599 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:165859599G>A uc001gdp.3 + 2 598 c.259_splice c.e2+1 p.D87_splice UCK2_uc010plb.2_Splice_Site NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN Homo sapiens uridine-cytidine kinase 2 (UCK2), mRNA. 87 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TTGACCACCCGGGTGAGTCGG 0.507000 3 57 0 0 0.014410 0 0 SLC7A8 23428 broad.mit.edu 37 14 23634518 23634518 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:23634518G>A uc001wiz.3 - 2 1210 c.484C>T c.(484-486)Cgg>Tgg p.R162W SLC7A8_uc010akj.3_Missense_Mutation_p.R162W NM_012244 NP_877392 Q9UHI5 LAT2_HUMAN Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA. 162 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GCCAGGAGCCGAAGGCCAGAC 0.498000 17 11 0 0 0.010729 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025208 176025208 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:176025208G>A uc003meo.1 - 1 1803 c.1628C>T c.(1627-1629)gCc>gTc p.A543V GPRIN1_uc021yif.1_Missense_Mutation_p.A543V NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA. 543 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGGGCTCGGCCTTCCCTGA 0.637000 27 16 0 0 0.006122 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306061 58306061 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:58306061G>A uc002aex.3 - 2 631 c.358C>T c.(358-360)Ctt>Ttt p.L120F ALDH1A2_uc010ugv.2_Missense_Mutation_p.L99F|ALDH1A2_uc002aey.3_Missense_Mutation_p.L120F|ALDH1A2_uc010ugw.2_Missense_Mutation_p.L91F|ALDH1A2_uc002aew.3_Missense_Mutation_p.L24F NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 120 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTTACTGCAAGAACTGCCCTG 0.403000 171 146 0 0 0.014410 0 0 GUCY2F 2986 broad.mit.edu 37 X 108631727 108631727 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:108631727G>A uc022cch.1 - 13 3032 c.2947C>T c.(2947-2949)Ctt>Ttt p.L983F GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.L983F NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 983 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CCTGAGTGAAGGCCAATTCGA 0.453000 101 78 0 0 0.014410 0 0 RORB 6096 broad.mit.edu 37 9 77300446 77300446 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:77300446A>G uc004aji.3 + 9 1374 c.1325A>G c.(1324-1326)aAg>aGg p.K442R RORB_uc004ajh.3_Missense_Mutation_p.K431R NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 442 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CAGGTATTTAAGCAATCTCAT 0.478000 4 49 0 0 0.014410 0 0 CPA5 93979 broad.mit.edu 37 7 130002769 130002769 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:130002769G>A uc010lmd.1 + 9 1301 c.681G>A c.(679-681)ctG>ctA p.L227L CPA5_uc003vps.2_Silent_p.L227L|CPA5_uc003vpt.2_Silent_p.L227L|CPA5_uc010lme.1_Silent_p.L227L|CPA5_uc003vpu.1_Silent_p.L227L NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 227 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CAGACATACTGAATGCCATGG 0.532000 45 26 0 0 0.006320 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735759 55735759 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:55735759C>T uc010rit.2 - 0 181 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TAACAGATTTCCAAAAGGGAA 0.353000 42 34 0 0 0.005524 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169986 32169987 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32169986_32169987GG>AA uc003obb.3 - 20 3760_3761 c.3621_3622CC>TT c.(3619-3624)gtccca>gtTTca p.P1208S NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1208 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAGGGGTCTGGGACTCCCAGAG 0.639000 111 182 0 0 0.004672 0 0 ADH4 127 broad.mit.edu 37 4 100052668 100052668 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:100052668C>T uc003hun.3 - 5 906 c.830G>A c.(829-831)gGa>gAa p.G277E LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.G296E NM_000670 NP_000661 P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 277 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GGTTTCAGATCCACCTGCACA 0.383000 23 16 0 0 0.004990 0 0 TCF4 6925 broad.mit.edu 37 18 53018134 53018134 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:53018134C>T uc002lga.3 - 7 836 c.776G>A c.(775-777)cGa>cAa p.R259Q TCF4_uc010xdu.1_Missense_Mutation_p.R27Q|TCF4_uc010xdv.1_Missense_Mutation_p.R27Q|TCF4_uc021uki.1_Missense_Mutation_p.R86Q|TCF4_uc002lfx.2_Missense_Mutation_p.R86Q|TCF4_uc010xdw.1_Missense_Mutation_p.R27Q|TCF4_uc002lfy.2_Missense_Mutation_p.R115Q|TCF4_uc010xdx.1_Missense_Mutation_p.R133Q|TCF4_uc021ukj.1_Intron|TCF4_uc021ukk.1_Intron|TCF4_uc021ukl.1_Missense_Mutation_p.R155Q|TCF4_uc002lfz.2_Missense_Mutation_p.R157Q|TCF4_uc010dph.1_Missense_Mutation_p.R157Q|TCF4_uc010dpi.3_Missense_Mutation_p.R157Q|TCF4_uc010xdy.1_Missense_Mutation_p.R133Q|TCF4_uc002lgc.4_Missense_Mutation_p.R78Q|TCF4_uc021ukm.1_Missense_Mutation_p.E42K NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 157 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGGCCTCCTTCGGGGATTATT 0.448000 26 36 0 0 0.008740 0 0 PKHD1 5314 broad.mit.edu 37 6 51524449 51524449 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:51524449G>A uc003pah.1 - 60 10751 c.10475C>T c.(10474-10476)tCc>tTc p.S3492F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3492 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.S3492A(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGAAGCTTGGAGGTACTTTT 0.443000 24 26 0 0 0.004656 0 0 FAM5C 339479 broad.mit.edu 37 1 190067595 190067595 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:190067595C>T uc001gse.1 - 7 2086 c.1854G>A c.(1852-1854)tgG>tgA p.W618* FAM5C_uc010pot.1_Nonsense_Mutation_p.W516* NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 618 extracellular region p.W618C(2) 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) AAAATGTCTTCCATTTGTTCC 0.433000 25 485 0 0 0.014410 0 0 ATP11C 286410 broad.mit.edu 37 X 138840015 138840015 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:138840015G>A uc004faz.3 - 22 2760 c.2661C>T c.(2659-2661)ttC>ttT p.F887F ATP11C_uc004fax.3_Silent_p.F95F|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F887F NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 887 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GTGGCAAAATGAAACAAAGGT 0.279000 17 14 0 0 0.004990 0 0 LCT 3938 broad.mit.edu 37 2 136566641 136566641 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:136566641C>T uc002tuu.1 - 7 3287 c.3276G>A c.(3274-3276)agG>agA p.R1092R NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1092 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CGTGGGCTATCCTATATGGTG 0.537000 29 26 0 0 0.004656 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661066 35661066 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:35661066C>T uc003anl.3 + 4 859 c.685C>T c.(685-687)Cgg>Tgg p.R229W HMGXB4_uc011amh.1_Missense_Mutation_p.R120W|HMGXB4_uc003ank.3_Missense_Mutation_p.R120W NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA. 229 Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway NURF complex DNA binding p.R229W(2) breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAAATCAGCTCGGGATGAGCA 0.468000 75 63 0 0 0.014410 0 0 MYH2 4620 broad.mit.edu 37 17 10431131 10431131 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10431131C>T uc010coi.3 - 27 3933 c.3805G>A c.(3805-3807)Gaa>Aaa p.E1269K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1269K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1269 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGCTCCTCTTCCTTTGATTTC 0.488000 55 47 0 0 0.014410 0 0 ANXA2 302 broad.mit.edu 37 9 33624580 33624580 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:33624580G>A uc010mjx.3 + 0 358 c.309G>A c.(307-309)ttG>ttA p.L103L DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank NM_004039 NP_004030 P07355 ANXA2_HUMAN Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA. 103 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TGGGCCTATTGAAGACACCTG 0.488000 OREG0019140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 39 0 0 0.014410 0 0 SATB1 6304 broad.mit.edu 37 3 18390985 18390985 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:18390985C>T uc003cbh.3 - 10 3704 c.1969G>A c.(1969-1971)Gga>Aga p.G657R SATB1_uc003cbi.3_Missense_Mutation_p.G689R|SATB1_uc003cbj.3_Missense_Mutation_p.G657R NM_002971 NP_002962 Q01826 SATB1_HUMAN Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA. 657 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter PML body|nuclear matrix double-stranded DNA binding|sequence-specific DNA binding p.L656F(1) NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGGAGGATTCCCAAGGCTTCC 0.562000 44 52 0 0 0.014410 0 0 OR10H3 26532 broad.mit.edu 37 19 15853087 15853087 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:15853087G>A uc010xoq.2 + 0 885 c.885G>A c.(883-885)agG>agA p.R295R NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TCAGTCTAAGGAACAAGGAGC 0.438000 82 70 0 0 0.014410 0 0 AHNAK 79026 broad.mit.edu 37 11 62301352 62301352 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:62301352T>A uc001ntl.3 - 4 837 c.537A>T c.(535-537)gaA>gaT p.E179D AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 179 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGATCTTGAATTCAGGGCTAC 0.542000 45 48 0 0 0.014410 0 0 TCEB3C 162699 broad.mit.edu 37 18 44549182 44549182 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:44549182C>T uc021ujl.1 - 0 1353 c.1117G>A c.(1117-1119)Gat>Aat p.D373N KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_001094287 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 373 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.P372P(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TACGGCTGATCGGGCGTCCAC 0.582000 169 37 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140755352 140755352 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140755352C>T uc003ljy.2 + 0 1702 c.1702C>T c.(1702-1704)Ccc>Tcc p.P568S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P568S NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 570 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) CCCCGCCCTCCCCACAGACGG 0.657000 94 66 0 0 0.014410 0 0 ASTN2 23245 broad.mit.edu 37 9 119188357 119188357 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:119188357G>A uc004bjt.2 - 21 3741 c.3640C>T c.(3640-3642)Ctg>Ttg p.L1214L ASTN2_uc022bml.1_Silent_p.L910L|ASTN2_uc022bmm.1_Silent_p.L914L|ASTN2_uc004bjp.2_Silent_p.L366L|ASTN2_uc011lxr.2_Silent_p.L317L|ASTN2_uc011lxs.2_Silent_p.L317L|ASTN2_uc011lxt.2_Silent_p.L317L|ASTN2_uc004bjq.2_Silent_p.L317L NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 1265 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGTAGAATCAGGTGGGCCTTC 0.498000 3 20 0 0 0.003330 0 0 KCNIP1 30820 broad.mit.edu 37 5 169780940 169780940 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:169780940T>C uc003map.3 + 0 60 c.60T>C c.(58-60)ttT>ttC p.F20F NM_001034838 NP_001030010 Q9NZI2 KCIP1_HUMAN Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 3, mRNA. 0 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGACCATCTTTAAGCTCATCA 0.552000 30 4 0 0 0.009096 0 0 SCN2A 6326 broad.mit.edu 37 2 166245378 166245378 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:166245378G>A uc002udc.3 + 26 5352 c.5062G>A c.(5062-5064)Gaa>Aaa p.E1688K SCN2A_uc002udd.3_Missense_Mutation_p.E1688K|SCN2A_uc002ude.3_Missense_Mutation_p.E1688K|SCN2A_uc021vry.1_Missense_Mutation_p.E188K NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1688 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1687M(1) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGTTAAGAGGGAAGTTGGGAT 0.468000 92 76 0 0 0.014410 0 0 LRRC10 376132 broad.mit.edu 37 12 70004284 70004284 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:70004284T>G uc001svc.3 - 0 659 c.335A>C c.(334-336)gAc>gCc p.D112A NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA. 112 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) ACTGGGGAGGTCGCAGAGTTT 0.572000 28 29 0 0 0.010818 0 0 SP110 3431 broad.mit.edu 37 2 231036436 231036436 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:231036436G>A uc002vqg.3 - 16 2103 c.1863C>T c.(1861-1863)tcC>tcT p.S621S SP110_uc002vqh.3_Intron NM_080424 NP_536349 Q9HB58 SP110_HUMAN Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA. 605 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CCGTAAAAAAGGAGCTTTGTG 0.428000 19 23 0 0 0.007291 0 0 ODZ1 10178 broad.mit.edu 37 X 124029937 124029937 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:124029937C>T uc010nqy.3 - 1 435 c.371G>A c.(370-372)tGg>tAg p.W124* ODZ1_uc011muj.2_Nonsense_Mutation_p.W124*|ODZ1_uc004euj.3_Nonsense_Mutation_p.W124* NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 124 Teneurin N-terminal. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TCCCCTTATCCACATTCTTAG 0.502000 133 214 0 0 0.014410 0 0 TMEM217 221468 broad.mit.edu 37 6 37186304 37186304 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:37186304C>T uc003onl.3 - 1 584 c.503G>A c.(502-504)cGa>cAa p.R168Q TMEM217_uc010jwr.3_Missense_Mutation_p.R168Q|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.R168Q NM_145316 NP_660359 Q8N7C4 TM217_HUMAN Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA. 168 integral to membrane p.R168P(2) endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 TGTAGAAATTCGTCTCTTGTA 0.438000 112 47 0 0 0.013114 0 0 ITGAX 3687 broad.mit.edu 37 16 31374287 31374287 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:31374287C>T uc002ebt.3 + 12 1458 c.1391C>T c.(1390-1392)tCc>tTc p.S464F ITGAX_uc002ebu.1_Missense_Mutation_p.S464F|ITGAX_uc010vfk.1_Missense_Mutation_p.S114F NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 464 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TCCCTCTGCTCCGTGGACGTA 0.667000 44 28 0 0 0.003271 0 0 ALKBH8 91801 broad.mit.edu 37 11 107431577 107431577 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:107431577C>T uc010rvr.2 - 1 118 c.43G>A c.(43-45)Gag>Aag p.E15K ALKBH8_uc009yxp.3_Missense_Mutation_p.E15K|ALKBH8_uc001pjl.3_Non-coding_Transcript NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA. 15 response to DNA damage stimulus cytosol|nucleus RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) AACTTCTTCTCAGTTTTACTG 0.373000 1 19 0 0 0.007413 0 0 OR2L3 391192 broad.mit.edu 37 1 248224664 248224664 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:248224664G>A uc001idx.1 + 0 681 c.681G>A c.(679-681)atG>atA p.M227I OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCTACCACATGAAATCTGCAG 0.468000 8 285 0 0 0.014410 0 0 STK31 56164 broad.mit.edu 37 7 23854762 23854762 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:23854762G>A uc003sws.4 + 23 2828 c.2761_splice c.e23-1 p.L921_splice STK31_uc003swt.4_Splice_Site_p.L898_splice|STK31_uc011jze.2_Intron|STK31_uc010kuq.3_Splice_Site_p.L898_splice|STK31_uc003swv.1_Splice_Site_p.L87_splice NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 921 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTCTTTCACAGCTTTCTGTTC 0.358000 39 26 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179449136 179449136 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179449136G>A uc021vsy.1 - 259 57663 c.57438C>T c.(57436-57438)gtC>gtT p.V19146V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V12841V|TTN_uc021vta.1_Silent_p.V12774V|TTN_uc021vtb.1_Silent_p.V12649V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20073 Ig-like 108. 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) CAGTTGACCGGACAAGAGTAT 0.458000 54 34 0 0 0.004878 0 0 GRM3 2913 broad.mit.edu 37 7 86415776 86415776 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:86415776G>A uc003uid.3 + 2 1767 c.668G>A c.(667-669)gGg>gAg p.G223E GRM3_uc010lef.3_Missense_Mutation_p.G221E|GRM3_uc010leg.3_Missense_Mutation_p.G95E|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 223 synaptic transmission integral to plasma membrane 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) GGTGATTACGGGGAGACAGGG 0.612000 60 20 0 0 0.012319 0 0 IKZF1 10320 broad.mit.edu 37 7 50450371 50450371 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:50450371G>A uc003tow.4 + 4 710 c.555G>A c.(553-555)agG>agA p.R185R IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.R98R|IKZF1_uc022acu.1_Silent_p.R98R|IKZF1_uc003tox.4_Silent_p.R185R|IKZF1_uc022acv.1_Silent_p.R98R|IKZF1_uc022acw.1_Silent_p.R98R|IKZF1_uc022acx.1_Silent_p.R185R|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.R98R|IKZF1_uc003toy.4_Silent_p.R185R|IKZF1_uc003toz.4_Silent_p.R155R|IKZF1_uc010kyx.3_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 185 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCCGCCGGAGGGACGCCCTCA 0.652000 """D,T""" BCL6 """ALL, DLBCL""" 16 6 0 0 0.003080 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887231 12887231 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:12887231G>A uc001auk.2 - 2 822 c.626C>T c.(625-627)tCc>tTc p.S209F NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 209 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CTGCTCTGGGGAAACGTAGCG 0.493000 20 189 0 0 0.014410 0 0 GGT7 2686 broad.mit.edu 37 20 33440060 33440060 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:33440060G>A uc002xay.3 - 11 1528 c.1485C>T c.(1483-1485)ccC>ccT p.P495P GGT7_uc010gex.3_5'Flank|GGT7_uc002xaz.1_Silent_p.P512P NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 495 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 CGCTGCCAAAGGGCTGGTTCA 0.652000 21 17 0 0 0.010504 0 0 ADCY9 115 broad.mit.edu 37 16 4164547 4164547 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:4164547G>A uc002cvx.3 - 1 1436 c.897C>T c.(895-897)ttC>ttT p.F299F NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 299 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGGACATGACGAACAGGTGGA 0.632000 20 29 0 0 0.007291 0 0 LONRF3 79836 broad.mit.edu 37 X 118151559 118151559 + Missense_Mutation SNP G A A rs143959775 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:118151559G>A uc004eqw.3 + 10 2217 c.2186G>A c.(2185-2187)cGa>cAa p.R729Q LONRF3_uc004eqx.3_Missense_Mutation_p.R688Q|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.R473Q NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA. 729 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 TTGGAAAGCCGAGCTCAGCTC 0.502000 73 61 0 0 0.014410 0 0 RGNEF 64283 broad.mit.edu 37 5 73168939 73168939 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:73168939C>T uc010izf.3 + 21 2858 c.2682C>T c.(2680-2682)ttC>ttT p.F894F RGNEF_uc011csq.2_Silent_p.F894F|RGNEF_uc021yam.1_Silent_p.F894F|RGNEF_uc011csr.2_Silent_p.F581F NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 894 DH. cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) ATAAAATTTTCCCCTGTTTAG 0.468000 10 8 0 0 0.003080 0 0 YSK4 80122 broad.mit.edu 37 2 135738810 135738810 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:135738810C>T uc002tue.1 - 8 3532 c.3501G>A c.(3499-3501)acG>acA p.T1167T YSK4_uc002tuf.1_Silent_p.T349T|YSK4_uc010fnc.1_Silent_p.T301T|YSK4_uc010fnd.1_Silent_p.T1054T|YSK4_uc010zbg.1_Silent_p.T299T|YSK4_uc021vpz.1_Silent_p.T28T|YSK4_uc002tuh.4_Silent_p.T895T|YSK4_uc002tui.4_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 1167 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) GTATTTGTTTCGTATATTTAC 0.388000 50 41 0 0 0.014410 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186550 153186550 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:153186550C>T uc004fjk.2 - 4 556 c.498_splice c.e4+1 p.T166_splice ARHGAP4_uc011mzf.2_Splice_Site_p.T143_splice|ARHGAP4_uc004fjl.2_Splice_Site_p.T166_splice|ARHGAP4_uc010nup.2_Splice_Site NM_001666 NP_001657 P98171 RHG04_HUMAN Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA. 166 Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTTCCTCACCGTCTGGAGCT 0.632000 1 9 0 0 0.010729 0 0 PRPH 5630 broad.mit.edu 37 12 49690308 49690308 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:49690308G>A uc001rtu.3 + 2 775 c.700G>A c.(700-702)Gag>Aag p.E234K NM_006262 NP_006253 P41219 PERI_HUMAN Homo sapiens peripherin (PRPH), mRNA. 234 Coil 1B.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 GCTGCACGAGGAGGTAAGTGG 0.607000 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 13 0 0 0.003163 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713654 32713654 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32713654C>T uc003obx.3 + 2 476 c.418C>T c.(418-420)Cct>Tct p.P140S NM_020056 NP_064440 P01906 DQA2_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA. 140 Alpha-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAACATCTTTCCTCCTGTGGT 0.502000 170 11 0 0 0.003163 0 0 CHRM2 1129 broad.mit.edu 37 7 136700939 136700939 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:136700939T>A uc003vtf.1 + 3 1950 c.1327T>A c.(1327-1329)Tgc>Agc p.C443S CHRM2_uc003vtg.1_Missense_Mutation_p.C443S|CHRM2_uc003vti.1_Missense_Mutation_p.C443S|CHRM2_uc003vtm.1_Missense_Mutation_p.C443S|CHRM2_uc003vtj.1_Missense_Mutation_p.C443S|CHRM2_uc003vtk.1_Missense_Mutation_p.C443S|CHRM2_uc003vtl.1_Missense_Mutation_p.C443S|CHRM2_uc003vtn.1_Missense_Mutation_p.C443S|CHRM2_uc003vto.1_Missense_Mutation_p.C443S|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.C443S NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 443 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.L442fs*19(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTATGCACTTTGCAATGCCAC 0.413000 99 50 0 0 0.014410 0 0 CACNA1F 778 broad.mit.edu 37 X 49061740 49061740 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:49061740G>A uc004dnb.3 - 47 5853 c.5791C>T c.(5791-5793)Ctg>Ttg p.L1931L CACNA1F_uc010nip.3_Silent_p.L1920L NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1931 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.R1930C(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TCCAGCGTCAGGCGACACGCA 0.597000 12 8 0 0 0.004482 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334429 37334430 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:37334429_37334430CC>TT uc003aqa.4 + 13 2796_2797 c.2579_2580CC>TT c.(2578-2580)ccc>cTT p.P860L CSF2RB_uc003aqc.4_Missense_Mutation_p.P866L NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 860 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GTCAAGAAGCCCCCAGGCCAGG 0.619000 71 66 0 0 0.004672 0 0 RBM45 129831 broad.mit.edu 37 2 178990712 178990712 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:178990712C>T uc002ulv.3 + 9 1325 c.1233_splice c.e9-1 p.C411_splice NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN Homo sapiens RNA binding motif protein 45 (RBM45), mRNA. 413 RRM 3. cell differentiation|nervous system development cytoplasm|nucleus RNA binding|nucleotide binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TTGTTTCAGTCGTTTTGGTAA 0.378000 30 13 0 0 0.001855 0 0 GPR78 27201 broad.mit.edu 37 4 8588889 8588889 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:8588889C>T uc003glk.3 + 2 1384 c.891C>T c.(889-891)ctC>ctT p.L297L GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron NM_080819 NP_543009 Q96P69 GPR78_HUMAN Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA. 297 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 ACTCTCTGCTCCGCCGGCCGT 0.662000 23 14 0 0 0.002450 0 0 DCDC5 100506627 broad.mit.edu 37 11 31115658 31115658 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:31115658C>T uc009yjk.1 - 3 470 c.401G>A c.(400-402)aGc>aAc p.S134N DCDC5_uc009yjl.1_Missense_Mutation_p.S62N|DCDC5_uc001msu.2_Missense_Mutation_p.S305N NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 0 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 TTGACTCCTGCTGCTTGCTTC 0.478000 44 38 0 0 0.004878 0 0 GPM6B 2824 broad.mit.edu 37 X 13834993 13834993 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:13834993C>T uc004cvw.3 - 0 322 c.31G>A c.(31-33)Gaa>Aaa p.E11K GPM6B_uc004cvx.3_Intron|GPM6B_uc011min.1_Intron|GPM6B_uc004cwa.2_Intron|GPM6B_uc011mim.2_5'UTR|GPM6B_uc004cvy.2_Missense_Mutation_p.E11K|GPM6B_uc004cvz.2_Missense_Mutation_p.E11K NM_001001995 NP_001001995 Q13491 GPM6B_HUMAN Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA. 11 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 TCAGTATTTTCCTCGGCTGCA 0.478000 117 117 0 0 0.014410 0 0 OR2F2 135948 broad.mit.edu 37 7 143632354 143632354 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143632354G>A uc011ktv.2 + 0 29 c.29G>A c.(28-30)aGa>aAa p.R10K NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) ACGTGGGTGAGAGAATTTATT 0.393000 60 61 0 0 0.014410 0 0 SNX25 83891 broad.mit.edu 37 4 186185657 186185657 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:186185657G>A uc003ixh.3 + 3 494 c.305G>A c.(304-306)aGa>aAa p.R102K NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN Homo sapiens sorting nexin 25 (SNX25), mRNA. 102 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) GATGAAGTAAGATTTCTACAA 0.413000 51 46 0 0 0.014410 0 0 MGAM 8972 broad.mit.edu 37 7 141756641 141756641 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:141756641C>T uc003vwy.3 + 29 3646 c.3592C>T c.(3592-3594)Cag>Tag p.Q1198* NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1198 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTGACGTTCCAGCCCCTGCC 0.517000 34 17 0 0 0.004990 0 0 WDR11 55717 broad.mit.edu 37 10 122665480 122665480 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:122665480C>T uc021pzt.1 + 26 3630 c.3384C>T c.(3382-3384)ctC>ctT p.L1128L WDR11_uc010qte.2_Silent_p.L730L|WDR11_uc001lfd.1_Silent_p.L646L|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 1128 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 CAAAGGCTCTCCTGGTTCTCC 0.522000 38 41 0 0 0.014410 0 0 SLX4 84464 broad.mit.edu 37 16 3640116 3640116 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3640116G>A uc002cvp.2 - 11 4150 c.3523C>T c.(3523-3525)Cct>Tct p.P1175S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1175 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TCTTCCAGAGGATCACTAGAA 0.453000 Direct reversal of damage 66 41 0 0 0.014410 0 0 RP1L1 94137 broad.mit.edu 37 8 10465880 10465880 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:10465880C>T uc003wtc.3 - 3 5957 c.5728G>A c.(5728-5730)Gag>Aag p.E1910K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1910 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) TTTTCTGCCTCCGGGGCTTCT 0.607000 101 79 0 0 0.014410 0 0 SNX8 29886 broad.mit.edu 37 7 2302895 2302895 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:2302895G>A uc003slw.3 - 6 928 c.885C>T c.(883-885)ttC>ttT p.F295F NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN Homo sapiens sorting nexin 8 (SNX8), mRNA. 295 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CGAGCAGCGCGAATTCCACAG 0.617000 16 37 0 0 0.009718 0 0 IFI30 10437 broad.mit.edu 37 19 18285849 18285849 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:18285849G>A uc002nic.1 + 2 206 c.133_splice c.e2-1 p.T45_splice PIK3R2_uc002nib.1_Splice_Site NM_006332 NP_006323 P13284 GILT_HUMAN Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA. 45 antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway cell junction|extracellular region|lysosome oxidoreductase activity, acting on a sulfur group of donors endometrium(1)|kidney(2)|large_intestine(1)|stomach(1) 5 CTAATCCACAGACAGGCAATC 0.572000 13 12 0 0 0.002450 0 0 CXCR1 3577 broad.mit.edu 37 2 219028987 219028987 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:219028987G>A uc021vwq.1 - 0 948 c.948C>T c.(946-948)ttC>ttT p.F316F CXCR1_uc002vhc.3_Silent_p.F316F|HV303425_uc021vwr.1_5'Flank NM_000634 NP_000625 P25024 CXCR1_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA. 316 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGATCTTGAGGAATCCATGGC 0.527000 48 44 0 0 0.010771 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038149 16038149 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:16038149C>T uc002nbu.2 - 5 434 c.398_splice c.e5-1 p.G133_splice CYP4F11_uc010eab.1_Splice_Site_p.G133_splice|CYP4F11_uc002nbt.2_Splice_Site_p.G133_splice NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 133 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GAGCCCATCCCCTGGCAGGGC 0.552000 61 53 0 0 0.014410 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368512 86368512 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:86368512C>T uc001vll.1 - 1 2591 c.2132G>A c.(2131-2133)gGa>gAa p.G711E SLITRK6_uc021rla.1_Missense_Mutation_p.G711E NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 711 integral to membrane p.G711E(2) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGCATCACTTCCTTCTTTCTC 0.413000 114 98 0 0 0.014410 0 0 UBN2 254048 broad.mit.edu 37 7 138946034 138946034 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:138946034G>A uc011kqr.2 + 5 942 c.942G>A c.(940-942)aaG>aaA p.K314K BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Silent_p.K37K NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 314 Lys-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CTGAAAAAAAGAAGAAACGTT 0.353000 53 17 0 0 0.004007 0 0 PEG3 5178 broad.mit.edu 37 19 57286743 57286743 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:57286743C>T uc002qnr.2 - 10 1279 c.897G>A c.(895-897)aaG>aaA p.K299K BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.K95K|PEG3_uc010ygq.1_Silent_p.K95K|PEG3_uc010etp.2_Silent_p.K299K|PEG3_uc010ygs.1_Silent_p.K299K|PEG3_uc002qnq.2_Silent_p.K299K NM_015363 NP_056178 Q9GZU2 PEG3_HUMAN Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA. 450 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) CTAGAGGATCCTTTGATTGTT 0.443000 30 24 0 0 0.014323 0 0 MAPK1IP1L 93487 broad.mit.edu 37 14 55529629 55529629 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:55529629C>T uc001xbq.1 + 2 476 c.312C>T c.(310-312)gcC>gcT p.A104A NM_144578 NP_653179 Q8NDC0 MISSL_HUMAN Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA. 104 Pro-rich. endometrium(2)|large_intestine(1)|lung(3) 6 CTTATCCAGCCCCAACTGTGC 0.617000 20 19 0 0 0.006122 0 0 GRIA4 2893 broad.mit.edu 37 11 105804641 105804641 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:105804641G>A uc001pix.2 + 13 2686 c.2240G>A c.(2239-2241)gGa>gAa p.G747E GRIA4_uc001piw.2_Missense_Mutation_p.G747E|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 747 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AAAGTGGGAGGAAATCTGGAT 0.438000 5 15 0 0 0.004007 0 0 CLDN18 51208 broad.mit.edu 37 3 137717827 137717827 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:137717827C>T uc003ero.1 + 0 170 c.117C>T c.(115-117)ccC>ccT p.P39P NM_001002026 NP_001002026 P56856 CLD18_HUMAN Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA. 39 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 ACAACAACCCCGTAACAGCTG 0.592000 67 30 0 0 0.012213 0 0 ANO2 57101 broad.mit.edu 37 12 5848555 5848555 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:5848555G>A uc001qnm.2 - 12 1422 c.1350C>T c.(1348-1350)ttC>ttT p.F450F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 455 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGTTTTCCAGGAACATGGTAG 0.438000 7 3 0 0 0.009096 0 0 ANO9 338440 broad.mit.edu 37 11 429596 429596 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:429596C>T uc001lpi.2 - 10 974 c.889G>A c.(889-891)Gac>Aac p.D297N ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Missense_Mutation_p.D153N NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN Homo sapiens anoctamin 9 (ANO9), mRNA. 297 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 ACGTACAGGTCCCAGTGCAGG 0.701000 12 10 0 0 0.006214 0 0 FCRL6 343413 broad.mit.edu 37 1 159778147 159778147 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:159778147C>T uc001fud.4 + 2 274 c.232C>T c.(232-234)Cgt>Tgt p.R78C FCRL6_uc010pix.1_Missense_Mutation_p.R73C|FCRL6_uc001fuc.2_Missense_Mutation_p.R85C|FCRL6_uc009wsz.1_Missense_Mutation_p.R78C|FCRL6_uc009wta.3_Missense_Mutation_p.R78C NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 78 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) AGTGCAGAGCCGTGGCCAGTA 0.488000 1 59 0 0 0.014410 0 0 LAMP5 24141 broad.mit.edu 37 20 9510314 9510314 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:9510314G>A uc002wni.2 + 5 1185 c.690G>A c.(688-690)cgG>cgA p.R230R LAMP5_uc010zrc.2_Silent_p.R186R NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 230 integral to membrane TGGATGAGCGGGAGCAACTGG 0.468000 23 17 0 0 0.010504 0 0 ATP5S 27109 broad.mit.edu 37 14 50789412 50789412 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:50789412C>T uc010ant.2 + 1 252 c.252C>T c.(250-252)atC>atT p.I84I ATP5S_uc001wxv.3_Silent_p.I112I|ATP5S_uc021rsv.1_Silent_p.I96I|ATP5S_uc001wxw.2_Silent_p.I112I|ATP5S_uc001wxx.2_Silent_p.I112I NM_001003803 NP_001003803 Q99766 ATP5S_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) (ATP5S), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 112 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 12 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) ACTCTTGTATCATGAGCATTG 0.468000 34 16 0 0 0.010504 0 0 HKDC1 80201 broad.mit.edu 37 10 71010086 71010086 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:71010086C>T uc001jpf.4 + 10 1744 c.1611C>T c.(1609-1611)aaC>aaT p.N537N HKDC1_uc010qje.2_Silent_p.N400N NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 537 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GGGGAACCAACTTCCGGGTCC 0.547000 91 63 0 0 0.014410 0 0 ATP2B2 491 broad.mit.edu 37 3 10391874 10391874 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:10391874C>T uc003bvt.3 - 15 2765 c.2326G>A c.(2326-2328)Gag>Aag p.E776K ATP2B2_uc003bvv.3_Missense_Mutation_p.E731K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E731K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E481K NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 776 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TCAATTCGCTCCTGCTCAATC 0.622000 17 13 0 0 0.003163 0 0 TMEM132A 54972 broad.mit.edu 37 11 60702236 60702236 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:60702236G>A uc001nqi.3 + 9 2032 c.1839_splice c.e9+1 p.E613_splice TMEM132A_uc001nqj.3_Splice_Site_p.E612_splice NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 612 Binds to HSPA5/GRP78 (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCTCCATTGAGGTAAGCAGCT 0.662000 17 14 0 0 0.004990 0 0 FAM71B 153745 broad.mit.edu 37 5 156592907 156592907 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:156592907T>C uc003lwn.3 - 0 373 c.273A>G c.(271-273)caA>caG p.Q91Q NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 91 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTAGTTGGTTGGGCCAGAA 0.567000 292 268 0 0 0.014410 0 0 TCRBV5S2 0 broad.mit.edu 37 7 142131530 142131530 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:142131530C>T uc010lnz.1 - 1 269 c.225G>A c.(223-225)caG>caA p.Q75Q TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; AGTTGCCTCTCTGTCTCTCTT 0.532000 89 40 0 0 0.007835 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38157053 38157053 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:38157053G>A uc003xli.3 - 14 3185 c.2667C>T c.(2665-2667)tcC>tcT p.S889S WHSC1L1_uc011lbm.2_Silent_p.S889S|WHSC1L1_uc010lwe.3_Intron NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 889 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTAGGTAGTGGGACTTATAGG 0.398000 T NUP98 AML 25 21 0 0 0.010504 0 0 COL4A4 1286 broad.mit.edu 37 2 227915872 227915872 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:227915872C>T uc021vxr.1 - 31 3072 c.2971G>A c.(2971-2973)Gat>Aat p.D991N COL4A4_uc021vxs.1_Missense_Mutation_p.D991N NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 991 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTTCCTTTATCACCTGATGAA 0.493000 37 36 0 0 0.003755 0 0 NXF4 55999 broad.mit.edu 37 X 101817561 101817561 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:101817561G>A uc004ejf.1 + 3 c.487G>A Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA. endometrium(2)|lung(8) 10 ATAAGAGTTGGATAGTGAATT 0.433000 9 6 0 0 0.001984 0 0 TBX20 57057 broad.mit.edu 37 7 35242183 35242183 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:35242183G>A uc011kas.2 - 7 1683 c.1203C>T c.(1201-1203)gcC>gcT p.A401A NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 401 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGCTGGCAATGGCCGATGGTG 0.557000 16 26 0 0 0.004656 0 0 SLA 6503 broad.mit.edu 37 8 134057307 134057307 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:134057307G>A uc011ljd.2 - 4 604 c.526C>T c.(526-528)Cgt>Tgt p.R176C TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.R136C|SLA_uc011lje.2_Missense_Mutation_p.R153C|SLA_uc011ljf.2_Missense_Mutation_p.R28C|SLA_uc011ljg.2_Intron NM_006748 NP_006739 Q13239 SLAP1_HUMAN Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA. 136 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TTGGGCAGACGGAAAATGCGG 0.527000 18 22 0 0 0.003330 0 0 abParts 0 broad.mit.edu 37 22 22550398 22550398 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:22550398G>A uc021wml.1 + 14 c.1209G>A Parts of antibodies, mostly variable regions. TGCTGACTCAGCCCCACTCTG 0.557000 OREG0026353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 10 0 0 0.013537 0 0 OR2C3 81472 broad.mit.edu 37 1 247695172 247695172 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247695172G>A uc021pmb.1 - 0 642 c.642C>T c.(640-642)ctC>ctT p.L214L 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.L214L NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 214 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) AGACCAGGATGAGCCCCAGAG 0.547000 2 74 0 0 0.014410 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995048 140995048 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140995048G>A uc004fbt.3 + 3 2182 c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E279K NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 620 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) TCAGGGGGAGGAATTCCAGTC 0.562000 HNSCC(15;0.026) 260 130 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9074546 9074547 + Missense_Mutation DNP CT TA TA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9074546_9074547CT>TA uc002mkp.3 - 2 13103_13104 c.12899_12900AG>TA c.(12898-12900)gag>gTA p.E4300V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4302 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 AGGACACTGTCTCAATCTCTGT 0.515000 23 17 0 0 0.004672 0 0 IRS4 8471 broad.mit.edu 37 X 107977900 107977900 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:107977900C>T uc004eoc.2 - 0 1708 c.1675G>A c.(1675-1677)Ggt>Agt p.G559S NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 559 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity p.G559C(2) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TGGCCACCACCTGAACCGTGC 0.652000 92 64 0 0 0.014410 0 0 VPS54 51542 broad.mit.edu 37 2 64208941 64208941 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:64208941G>A uc002scq.3 - 2 380 c.217C>T c.(217-219)Ctc>Ttc p.L73F VPS54_uc002scp.3_Missense_Mutation_p.L61F NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA. 73 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GCTGCTGGGAGATTTACTTTG 0.378000 60 56 0 0 0.014410 0 0 TSHR 7253 broad.mit.edu 37 14 81422135 81422135 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:81422135C>T uc001xvd.1 + 0 267 c.111C>T c.(109-111)ttC>ttT p.F37F CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Silent_p.F37F|TSHR_uc001xvc.3_Silent_p.F37F|TSHR_uc010tvs.2_Silent_p.F37F NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 37 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) AGGAGGACTTCAGAGTCACCT 0.602000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 57 60 0 0 0.014410 0 0 MDGA2 161357 broad.mit.edu 37 14 47530677 47530677 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:47530677G>A uc001wwj.4 - 6 1458 c.1300C>T c.(1300-1302)Cct>Tct p.P434S MDGA2_uc001wwi.4_Missense_Mutation_p.P136S|MDGA2_uc010ani.3_5'UTR NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 365 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCCTCAGAAGGAACAGCTTCT 0.423000 35 27 0 0 0.005443 0 0 AIM1L 55057 broad.mit.edu 37 1 26671923 26671923 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:26671923C>T uc001bmd.4 - 1 1376 c.1226G>A c.(1225-1227)aGg>aAg p.R409K NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 9. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) ATGCTCGCTCCTCACCATGGG 0.632000 0 19 0 0 0.007413 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409639 19409639 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:19409639C>T uc010tcj.1 - 0 c.36471G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AATAAAGCCTCTTTGGATATT 0.328000 41 44 0 0 0.010771 0 0 DMXL2 23312 broad.mit.edu 37 15 51791142 51791142 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:51791142G>A uc010ufy.2 - 17 4504 c.4279C>T c.(4279-4281)Cct>Tct p.P1427S DMXL2_uc002abf.3_Missense_Mutation_p.P1427S|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1427 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GGTAGTGGAGGGATAGAATCT 0.398000 67 62 0 0 0.014410 0 0 DNAH9 1770 broad.mit.edu 37 17 11784661 11784661 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:11784661G>A uc002gne.3 + 54 10805 c.10737G>A c.(10735-10737)agG>agA p.R3579R DNAH9_uc010coo.3_Silent_p.R2873R|DNAH9_uc002gnf.3_5'Flank|DNAH9_uc010vvh.1_5'Flank NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3579 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCGTGACCAGGGATGGCCTGG 0.582000 24 33 0 0 0.004289 0 0 CHGB 1114 broad.mit.edu 37 20 5903299 5903299 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:5903299G>A uc002wmg.3 + 3 815 c.509G>A c.(508-510)gGa>gAa p.G170E CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 170 Poly-Glu. extracellular region hormone activity p.G170E(2) breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGGAGGAGGGAGAGAACTAT 0.507000 26 17 0 0 0.006122 0 0 MYO5B 4645 broad.mit.edu 37 18 47402197 47402197 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:47402197C>T uc002leb.2 - 26 3685 c.3397_splice c.e26-1 p.E1133_splice MYO5B_uc002lea.2_Splice_Site_p.E274_splice NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1133 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGGCCAATTTCCTTCAAAGGA 0.498000 29 29 0 0 0.010818 0 0 SRSF3 6428 broad.mit.edu 37 6 36566699 36566699 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:36566699C>T uc003omj.3 + 2 451 c.280C>T c.(280-282)Ccc>Tcc p.P94S SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Missense_Mutation_p.P94S NM_003017 NP_003008 P84103 SRSF3_HUMAN Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA. 94 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2) 7 TGGCCCACCTCCCTCTTGGGG 0.478000 93 39 0 0 0.014410 0 0 FAM9A 171482 broad.mit.edu 37 X 8768129 8768129 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:8768129C>T uc022bsk.1 - 1 220 c.84G>A c.(82-84)acG>acA p.T28T FAM9A_uc004csg.3_Silent_p.T28T NM_001171186 NP_777611 Q8IZU1 FAM9A_HUMAN Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA. 28 nucleolus endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) CACCTTCTTTCGTGGCCCCCT 0.642000 14 10 0 0 0.004007 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64708956 64708956 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:64708956C>T uc010nko.3 + 0 342 c.275C>T c.(274-276)tCc>tTc p.S92F NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA. 81 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCAAGTTTCTCCCAGAGCAGC 0.493000 51 48 0 0 0.014410 0 0 DLGAP3 58512 broad.mit.edu 37 1 35365784 35365784 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:35365784C>T uc001byc.3 - 1 1198 c.1198G>A c.(1198-1200)Gcc>Acc p.A400T NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 400 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TCCCCCATGGCTTTGATGTAG 0.647000 4 77 0 0 0.014410 0 0 LRBA 987 broad.mit.edu 37 4 151247031 151247031 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:151247031C>T uc010ipj.3 - 49 7659 c.7415G>A c.(7414-7416)cGa>cAa p.R2472Q LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.R362Q|LRBA_uc003ilt.4_Missense_Mutation_p.R1120Q|LRBA_uc003ilu.4_Missense_Mutation_p.R2461Q NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2472 BEACH. Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TCCAAAACTTCGGATTTGAGC 0.453000 13 9 0 0 0.008291 0 0 CCDC108 255101 broad.mit.edu 37 2 219903137 219903137 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:219903137C>T uc002vjl.1 - 3 401 c.317G>A c.(316-318)aGc>aAc p.S106N CCDC108_uc010zkp.1_Missense_Mutation_p.S95N|CCDC108_uc010zkq.1_Missense_Mutation_p.S41N|CCDC108_uc002vjn.3_Missense_Mutation_p.S41N NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 106 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) GGCTGCACTGCTGTCGTTGAT 0.637000 32 20 0 0 0.010504 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55250025 55250025 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:55250025C>T uc002qgx.3 + 0 52 c.15C>T c.(13-15)gtC>gtT p.V5V KIR2DL1_uc010erw.1_Silent_p.V5V|KIR2DL1_uc002qgz.1_5'Flank NM_015868 NP_056952 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA. 5 V -> F (in dbSNP:rs2304224). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CGCTCATGGTCGTCAGCATGG 0.612000 OREG0003673 type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 51 32 0 0 0.005524 0 0 CADM3 57863 broad.mit.edu 37 1 159163743 159163743 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:159163743G>A uc001ftl.2 + 4 783 c.604G>A c.(604-606)Gat>Aat p.D202N CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.D236N NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 202 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TACCCGGGAGGATGATGGGGC 0.502000 3 83 0 0 0.014410 0 0 PHC3 80012 broad.mit.edu 37 3 169854299 169854299 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:169854299G>A uc003fgl.2 - 6 861 c.827C>T c.(826-828)cCa>cTa p.P276L PHC3_uc010hws.1_Missense_Mutation_p.P264L|PHC3_uc011bpq.1_Missense_Mutation_p.P223L|PHC3_uc011bpr.1_Missense_Mutation_p.P190L|PHC3_uc003fgm.2_Missense_Mutation_p.P276L NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 264 Ser-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ATTACTTTCTGGAGAAGGATC 0.433000 25 28 0 0 0.005443 0 0 NTNG2 84628 broad.mit.edu 37 9 135073983 135073983 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:135073983G>A uc004cbh.2 + 2 1620 c.844G>A c.(844-846)Gag>Aag p.E282K NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN Homo sapiens netrin G2 (NTNG2), mRNA. 282 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CTCCAACATCGAGGTCATCGG 0.602000 2 16 0 0 0.006122 0 0 XKR9 389668 broad.mit.edu 37 8 71646647 71646647 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:71646647C>T uc003xyq.3 + 4 1644 c.1110C>T c.(1108-1110)ttC>ttT p.F370F XKR9_uc010lzd.3_Silent_p.F238F|XKR9_uc010lze.3_Silent_p.F370F NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 370 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGAGATATTTCCTAATGGAAT 0.294000 21 14 0 0 0.004007 0 0 C19orf57 79173 broad.mit.edu 37 19 14000427 14000427 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:14000427G>A uc002mxl.1 - 5 1301 c.1242C>T c.(1240-1242)ggC>ggT p.G414G C19orf57_uc002mxk.1_Silent_p.G296G NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 414 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) AGGCTGTAGGGCCCACTAGGA 0.642000 11 13 0 0 0.013537 0 0 FAT4 79633 broad.mit.edu 37 4 126412606 126412606 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:126412606G>A uc003ifj.4 + 16 14629 c.14629G>A c.(14629-14631)Gat>Aat p.D4877N FAT4_uc011cgp.2_Missense_Mutation_p.D3118N|FAT4_uc003ifi.1_Missense_Mutation_p.D2354N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4877 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAATGAATCTGATGCAGATGA 0.493000 37 31 0 0 0.003755 0 0 CYBB 1536 broad.mit.edu 37 X 37658288 37658288 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:37658288G>A uc004ddr.2 + 6 816 c.755G>A c.(754-756)gGa>gAa p.G252E CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.G220E|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA. 252 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 TCAGAATGGGGAAAAATAAAG 0.383000 16 18 0 0 0.010504 0 0 DECR1 1666 broad.mit.edu 37 8 91057136 91057136 + Silent SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:91057136T>A uc003yek.1 + 7 939 c.798T>A c.(796-798)atT>atA p.I266I DECR1_uc011lgc.1_Silent_p.I257I|DECR1_uc011lgd.1_Non-coding_Transcript NM_001359 NP_001350 Q16698 DECR_HUMAN Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA. 266 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTGGCAGAATTCCCTGTGGTC 0.428000 54 42 0 0 0.009718 0 0 PPIG 9360 broad.mit.edu 37 2 170460756 170460756 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:170460756C>T uc002uez.3 + 3 341 c.121C>T c.(121-123)Cgt>Tgt p.R41C PPIG_uc010fpx.3_Missense_Mutation_p.R41C|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.R41C|PPIG_uc002ufb.3_Missense_Mutation_p.R41C|PPIG_uc002ufc.1_Missense_Mutation_p.R41C|PPIG_uc002ufd.3_Missense_Mutation_p.R41C NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 41 PPIase cyclophilin-type. RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CGAGAACTTTCGTTGTCTTTG 0.343000 59 49 0 0 0.014410 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309866 22309866 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:22309866G>A uc001wbx.2 + 1 351 c.250G>A c.(250-252)Gca>Aca p.A84T TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232. AAGGTTTACAGCACAGCTCAA 0.473000 64 50 0 0 0.014410 0 0 OR2A2 442361 broad.mit.edu 37 7 143807322 143807322 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143807322C>T uc011ktz.2 + 0 647 c.647C>T c.(646-648)tCc>tTc p.S216F NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) ATTCTGGTCTCCTACATGCAC 0.537000 59 102 0 0 0.014410 0 0 PLCZ1 89869 broad.mit.edu 37 12 18889170 18889170 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:18889170C>T uc021qvx.1 - 2 311 c.120G>A c.(118-120)gtG>gtA p.V40V PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 40 EF-hand. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAATCTGTTTCACATGAATAT 0.358000 28 32 0 0 0.009535 0 0 TAF1 6872 broad.mit.edu 37 X 70586246 70586246 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:70586246G>A uc004dzu.4 + 0 133 c.82G>A c.(82-84)Gaa>Aaa p.E28K BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.E28K NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 28 Protein kinase 1. G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GGACAGCGACGAAGATTCCGC 0.562000 43 40 0 0 0.010771 0 0 PTPRB 5787 broad.mit.edu 37 12 70949790 70949790 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:70949790G>A uc001swb.4 - 16 4229 c.4199C>T c.(4198-4200)tCc>tTc p.S1400F PTPRB_uc010sto.2_Missense_Mutation_p.S1310F|PTPRB_uc010stp.2_Missense_Mutation_p.S1310F|PTPRB_uc001swc.4_Missense_Mutation_p.S1618F|PTPRB_uc001swa.4_Missense_Mutation_p.S1530F NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1400 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAGCTTTCTGGAAAACTCAAC 0.473000 26 31 0 0 0.004289 0 0 FAM135B 51059 broad.mit.edu 37 8 139164331 139164331 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:139164331G>T uc003yuy.3 - 12 2558 c.2387C>A c.(2386-2388)gCt>gAt p.A796D FAM135B_uc003yux.3_Missense_Mutation_p.A697D|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.A358D|FAM135B_uc003yvb.3_Missense_Mutation_p.A358D NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 796 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAAGGTTCAGCAAAACCTCC 0.522000 HNSCC(54;0.14) 28 23 1.64293e-13 2.22481e-13 0.003330 1 0 DISC1 27185 broad.mit.edu 37 1 231954091 231954091 + Silent SNP G A A rs117884450 by1000genomes TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:231954091G>A uc010pxh.2 + 9 1958 c.1905G>A c.(1903-1905)acG>acA p.T635T DISC1_uc010pwj.1_Silent_p.T592T|DISC1_uc010pwk.1_Missense_Mutation_p.R558Q|DISC1_uc010pwg.1_Silent_p.T592T|DISC1_uc010pwh.1_Silent_p.T558T|DISC1_uc010pwi.1_Silent_p.T558T|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Silent_p.T603T|DISC1_uc010pws.1_Missense_Mutation_p.R569Q|DISC1_uc010pwt.1_Missense_Mutation_p.G551S|DISC1_uc010pwu.1_Missense_Mutation_p.G201S|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Silent_p.T603T|DISC1_uc001huy.3_Silent_p.T603T|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Silent_p.T603T|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Silent_p.T603T|DISC1_uc010pxf.2_Silent_p.T603T|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Silent_p.T248T|DISC1_uc009xfr.3_Silent_p.T558T|DISC1_uc010pxn.1_Silent_p.T248T|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Silent_p.T248T|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Silent_p.T481T|DISC1_uc001huz.3_Silent_p.T603T|DISC1_uc001hva.3_Silent_p.T603T|DISC2_uc001hvd.3_Non-coding_Transcript NM_001164537 NP_001158009 Q9NRI5 DISC1_HUMAN Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA. 603 Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) ATTTCTGGACGGCTAAAGACC 0.478000 143 35 0 0 0.004289 0 0 FLT3 2322 broad.mit.edu 37 13 28636006 28636006 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:28636006G>C uc001urw.3 - 2 448 c.366C>G c.(364-366)aaC>aaG p.N122K FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.N122K NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 122 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CCACTTACCTGTTTTGTAAAT 0.398000 """Mis, O""" """AML, ALL""" 22 15 0 0 0.004007 0 0 ZMYM3 9203 broad.mit.edu 37 X 70466457 70466457 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:70466457C>T uc004dzh.2 - 13 2579 c.2400G>A c.(2398-2400)ggG>ggA p.G800G BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.G800G|ZMYM3_uc004dzj.2_Intron NM_201599 NP_963893 Q14202 ZMYM3_HUMAN Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA. 800 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TGCCCAAATTCCCATTTTCCT 0.517000 35 20 0 0 0.003330 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443766 5443766 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5443766G>A uc010qzd.2 + 0 426 c.336G>A c.(334-336)atG>atA p.M112I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCCTTTATGGAGTCTTCTG 0.488000 72 61 0 0 0.014410 0 0 SAMD9 54809 broad.mit.edu 37 7 92733781 92733781 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:92733781G>A uc003umf.3 - 2 1900 c.1630C>T c.(1630-1632)Cta>Tta p.L544L SAMD9_uc003umg.3_Silent_p.L544L|SAMD9_uc022ahg.1_Silent_p.L544L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 544 cytoplasm p.L544I(2)|p.L544V(2) 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) GACAGTAATAGAAATACCACC 0.398000 45 71 0 0 0.014410 0 0 ZNF490 57474 broad.mit.edu 37 19 12692182 12692182 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:12692182G>A uc002mtz.2 - 4 836 c.707C>T c.(706-708)tCc>tTc p.S236F NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN Homo sapiens zinc finger protein 490 (ZNF490), mRNA. 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 GTTTCGAAAGGAAAAGAGAAA 0.433000 23 21 0 0 0.010504 0 0 PEAK1 79834 broad.mit.edu 37 15 77425774 77425774 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:77425774G>A uc021sqy.1 - 6 4226 c.3650C>T c.(3649-3651)tCc>tTc p.S1217F NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 1217 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding CCTTTCCAAGGAGTCATAAGA 0.483000 32 28 0 0 0.004656 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32194867 32194867 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:32194867C>T uc002wzg.1 + 2 704 c.167C>T c.(166-168)cCt>cTt p.P56L CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.P47L|CBFA2T2_uc021wbz.1_Missense_Mutation_p.P27L|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.P27L|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript NM_005093 NP_001034798 O43439 MTG8R_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA. 56 Pro-rich. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 CCAATAAATCCTGGAGGACCG 0.512000 33 31 0 0 0.003755 0 0 XIRP2 129446 broad.mit.edu 37 2 168105205 168105205 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:168105205G>A uc002udx.3 + 8 7392 c.7303G>A c.(7303-7305)Gat>Aat p.D2435N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2260N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2213N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2260 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 GCATATAAAAGATAATAAGAA 0.403000 55 50 0 0 0.014410 0 0 PSG9 5678 broad.mit.edu 37 19 43772155 43772155 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:43772155C>T uc002owd.4 - 1 310 c.211G>A c.(211-213)Gaa>Aaa p.E71K PSG9_uc002owe.4_Missense_Mutation_p.E71K|PSG9_uc010xwm.2_Missense_Mutation_p.E71K|PSG9_uc002owf.4_Missense_Mutation_p.E71K|PSG9_uc002owg.2_Missense_Mutation_p.E71K NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 71 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TCCGTCATTTCCCCTTTGTAC 0.413000 89 94 0 0 0.014410 0 0 MDGA2 161357 broad.mit.edu 37 14 47311177 47311177 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:47311177A>T uc001wwj.4 - 16 3193 c.3035T>A c.(3034-3036)tTt>tAt p.F1012Y MDGA2_uc001wwh.4_Missense_Mutation_p.F145Y|MDGA2_uc001wwi.4_Missense_Mutation_p.F714Y NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 943 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GATAATGGGAAAAAGCCATAT 0.388000 42 22 0 0 0.004656 0 0 CD33 945 broad.mit.edu 37 19 51729081 51729081 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:51729081C>T uc002pwa.2 + 2 481 c.441C>T c.(439-441)atC>atT p.I147I CD33_uc010eos.1_Silent_p.I147I|CD33_uc010eot.1_Silent_p.I20I|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 147 Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GGCCCAAAATCCTCATCCCTG 0.572000 48 44 0 0 0.014410 0 0 C18orf34 374864 broad.mit.edu 37 18 30804827 30804827 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:30804827G>A uc010xbr.1 - 15 1872 c.1730C>T c.(1729-1731)gCc>gTc p.A577V C18orf34_uc010dme.1_Missense_Mutation_p.A91V|C18orf34_uc002kxn.2_Missense_Mutation_p.A577V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A577V|C18orf34_uc002kxp.3_Missense_Mutation_p.A577V NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 577 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 CAGTGACATGGCACATATTGC 0.368000 36 24 0 0 0.003954 0 0 PLCE1 51196 broad.mit.edu 37 10 95987188 95987188 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:95987188G>A uc001kjk.3 + 4 2569 c.1935G>A c.(1933-1935)atG>atA p.M645I PLCE1_uc010qnx.2_Missense_Mutation_p.M645I|PLCE1_uc001kjm.3_Missense_Mutation_p.M337I NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 645 Ras-GEF. Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ACGCTGTCATGGAGTTCTTGG 0.493000 99 77 0 0 0.014410 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558185 140558185 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140558185G>A uc011dai.2 + 0 815 c.570G>A c.(568-570)agG>agA p.R190R PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 190 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGATGGCAGGAAATACCCAG 0.502000 117 14 0 0 0.003163 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213868 3213868 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:3213868C>T uc002fvi.2 + 0 330 c.264C>T c.(262-264)ttC>ttT p.F88F Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA. TGAGCCATTTCATATCCAACG 0.542000 32 19 0 0 0.014323 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097973 43097973 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:43097973C>T uc002oud.2 - 1 246 c.144G>A c.(142-144)ggG>ggA p.G48G AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 48 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GAACCTCCTTCCCCTCTGCAG 0.537000 89 53 0 0 0.014410 0 0 DPP10 57628 broad.mit.edu 37 2 116548899 116548899 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:116548899T>G uc002tle.3 + 18 1700 c.1679T>G c.(1678-1680)aTg>aGg p.M560R DPP10_uc002tla.2_Missense_Mutation_p.M556R|DPP10_uc002tlb.2_Missense_Mutation_p.M506R|DPP10_uc002tlc.2_Missense_Mutation_p.M552R|DPP10_uc002tlf.2_Missense_Mutation_p.M549R NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 556 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AAAGATTTTATGGACCGAAAC 0.299000 43 46 0 0 0.014410 0 0 COL6A6 131873 broad.mit.edu 37 3 130283963 130283963 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:130283963G>A uc010htl.3 + 2 818 c.787G>A c.(787-789)Gaa>Aaa p.E263K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 263 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGACATAAAGGAAAATTGCAT 0.393000 99 68 0 0 0.014410 0 0 UNC45B 146862 broad.mit.edu 37 17 33482367 33482368 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:33482367_33482368CC>TT uc002hja.3 + 6 789_790 c.692_693CC>TT c.(691-693)gcc>gTT p.A231V UNC45B_uc002hjb.3_Missense_Mutation_p.A231V|UNC45B_uc002hjc.3_Missense_Mutation_p.A231V|UNC45B_uc010cto.3_Missense_Mutation_p.A231V NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 231 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AGCCTCATGGCCGTGGAGAATG 0.569000 26 34 0 0 0.004672 0 0 PAF1 54623 broad.mit.edu 37 19 39877418 39877418 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:39877418C>T uc002old.3 - 11 1183 c.1008G>A c.(1006-1008)cgG>cgA p.R336R PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Silent_p.R326R NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA. 336 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CAGCCTTGGCCCGGCGCTTAC 0.572000 41 27 0 0 0.007291 0 0 PCDH18 54510 broad.mit.edu 37 4 138451272 138451272 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:138451272G>A uc003ihe.4 - 0 2358 c.1971C>T c.(1969-1971)atC>atT p.I657I PCDH18_uc003ihf.4_Silent_p.I650I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I437I|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 657 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTCCTGAATGATAACTGACA 0.423000 106 68 0 0 0.014410 0 0 ABCB1 5243 broad.mit.edu 37 7 87175237 87175237 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:87175237C>T uc003uiz.2 - 15 2322 c.1829G>A c.(1828-1830)gGa>gAa p.G610E ABCB1_uc011khc.2_Missense_Mutation_p.G546E NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 610 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATCATGATTTCCTTTCTCCAC 0.398000 71 30 0 0 0.008361 0 0 SF3A2 8175 broad.mit.edu 37 19 2247835 2247835 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:2247835G>A uc002lvg.3 + 8 807 c.685G>A c.(685-687)Ggg>Agg p.G229R AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank NM_007165 NP_009096 Q15428 SF3A2_HUMAN Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA. 229 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 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) TGGCCCCCCTGGGGTGAAGCG 0.667000 20 29 0 0 0.009535 0 0 SPEF2 79925 broad.mit.edu 37 5 35806810 35806810 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:35806810C>T uc003jjo.3 + 35 5122 c.5011_splice c.e35-1 p.T1671_splice SPEF2_uc003jjp.1_Splice_Site_p.T1157_splice|SPEF2_uc003jjr.3_Splice_Site_p.T726_splice NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1671 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTTTGCAGACCTCCTCAACT 0.378000 21 17 0 0 0.010504 0 0 DNAH5 1767 broad.mit.edu 37 5 13901544 13901544 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:13901544G>A uc003jfd.2 - 13 1911 c.1869C>T c.(1867-1869)atC>atT p.I623I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 623 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTTCCAGCGATGGGAGGCT 0.502000 Kartagener syndrome 15 10 0 0 0.008291 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62851980 62851980 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:62851980C>T uc002jey.2 - 12 5453 c.4837G>A c.(4837-4839)Gaa>Aaa p.E1613K LRRC37A3_uc010wqg.1_Missense_Mutation_p.E731K|LRRC37A3_uc002jex.1_Missense_Mutation_p.E590K|LRRC37A3_uc010wqf.1_Missense_Mutation_p.E651K NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1613 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TCTTCATCTTCTTGTAATGAC 0.368000 58 42 0 0 0.014410 0 0 CER1 9350 broad.mit.edu 37 9 14722376 14722376 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:14722376C>T uc003zlj.3 - 0 340 c.295G>A c.(295-297)Gac>Aac p.D99N NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 99 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CTATCTGAGTCCCTGGATGGA 0.537000 17 30 0 0 0.006320 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570138 61570138 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:61570138G>A uc010xeu.2 + 8 1180 c.847G>A c.(847-849)Gaa>Aaa p.E283K SERPINB2_uc002ljo.3_Missense_Mutation_p.E283K|SERPINB2_uc002ljp.1_Missense_Mutation_p.E88K|SERPINB2_uc002ljq.1_Missense_Mutation_p.E88K NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 283 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) tttgCAGCTGGAAAGTGAAAT 0.328000 13 6 0 0 0.001168 0 0 ZNF101 94039 broad.mit.edu 37 19 19790253 19790253 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:19790253C>T uc002nni.2 + 3 565 c.455C>T c.(454-456)tCc>tTc p.S152F ZNF101_uc010ecg.2_Missense_Mutation_p.S32F|ZNF101_uc002nnj.2_Missense_Mutation_p.S32F NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN Homo sapiens zinc finger protein 101 (ZNF101), mRNA. 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 GCCTCCATTTCCCCCAGTAGT 0.493000 61 35 0 0 0.006230 0 0 CCDC64B 146439 broad.mit.edu 37 16 3079381 3079381 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3079381G>A uc002ctf.4 - 5 1052 c.1007C>T c.(1006-1008)cCc>cTc p.P336L CCDC64B_uc002cte.4_Missense_Mutation_p.P129L NM_001103175 NP_001096645 A1A5D9 BICR2_HUMAN Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA. 336 breast(1)|endometrium(2)|large_intestine(1) 4 CTCTTCCGGGGGTGAAGGCTG 0.577000 8 3 0 0 0.009096 0 0 PUS7L 83448 broad.mit.edu 37 12 44142338 44142338 + Missense_Mutation SNP G A A rs140009727 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:44142338G>A uc001rns.4 - 2 1065 c.985C>T c.(985-987)Cct>Tct p.P329S PUS7L_uc001rnq.4_Missense_Mutation_p.P329S|PUS7L_uc001rnr.4_Missense_Mutation_p.P329S|PUS7L_uc009zkb.3_Missense_Mutation_p.P16S NM_031292 NP_112582 Q9H0K6 PUS7L_HUMAN Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA. 329 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) AAATCCGAAGGAATAACACCA 0.348000 67 54 0 0 0.014410 0 0 FAM47A 158724 broad.mit.edu 37 X 34150189 34150189 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:34150189G>A uc004ddg.3 - 0 259 c.207C>T c.(205-207)ctC>ctT p.L69L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 69 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 GGCGACAAACGAGAGTATCTT 0.562000 45 32 0 0 0.003271 0 0 TTBK1 84630 broad.mit.edu 37 6 43226840 43226840 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:43226840G>A uc003ouq.1 + 10 1360 c.1081G>A c.(1081-1083)Gga>Aga p.G361R NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 361 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGTGCTACAGGGAGAGCACCT 0.677000 49 21 0 0 0.003330 0 0 GUCA1C 9626 broad.mit.edu 37 3 108626922 108626922 + Missense_Mutation SNP C T T rs146701862 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:108626922C>T uc003dxj.2 - 3 645 c.577G>A c.(577-579)Gac>Aac p.D193N GUCA1C_uc003dxk.2_3'UTR NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 193 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TTGGAGGAGTCTGTCTCCATG 0.458000 23 19 0 0 0.007413 0 0 CORIN 10699 broad.mit.edu 37 4 47644058 47644058 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:47644058A>T uc003gxm.3 - 15 2170 c.2077T>A c.(2077-2079)Tct>Act p.S693T CORIN_uc011bzf.2_Missense_Mutation_p.S554T|CORIN_uc011bzg.2_Missense_Mutation_p.S626T NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 693 SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 ACATTTATAGAGAGGGTCACT 0.443000 35 19 0 0 0.010504 0 0 SMG8 55181 broad.mit.edu 37 17 57288300 57288300 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:57288300C>T uc002ixi.3 + 0 930 c.888C>T c.(886-888)ccC>ccT p.P296P NM_018149 NP_060619 Q8ND04 SMG8_HUMAN Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA. 296 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AACATTCTCCCAAAAGGAGGC 0.498000 31 32 0 0 0.012213 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476702 140476702 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140476702C>T uc003lil.3 + 0 2466 c.2328C>T c.(2326-2328)ttC>ttT p.F776F PCDHB2_uc003lim.1_Silent_p.F437F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 776 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCGTTGCTCAGG 0.507000 65 45 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140810340 140810340 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140810340G>A uc003lkt.2 + 0 183 c.14G>A c.(13-15)cGa>cAa p.R5Q PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.R5Q NM_003735 NP_003726 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. 0 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) ATTCCTGCGCGACTGCACCGG 0.517000 42 36 0 0 0.004878 0 0 CEP68 23177 broad.mit.edu 37 2 65296935 65296935 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:65296935G>A uc002sdl.4 + 2 571 c.357_splice c.e2+1 p.Q119_splice CEP68_uc002sdj.2_Splice_Site_p.Q119_splice|CEP68_uc010yqb.1_Splice_Site_p.Q119_splice|CEP68_uc002sdk.4_Splice_Site_p.Q119_splice|CEP68_uc010yqc.2_Splice_Site_p.Q119_splice|CEP68_uc010yqd.1_Splice_Site_p.Q119_splice NM_015147 NP_055962 Q76N32 CEP68_HUMAN Homo sapiens centrosomal protein 68kDa (CEP68), mRNA. 119 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 GGGAAAGCCAGGTAGGTACTA 0.552000 52 35 0 0 0.004289 0 0 INPPL1 3636 broad.mit.edu 37 11 71944134 71944134 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:71944134C>T uc001osf.3 + 16 2114 c.1967C>T c.(1966-1968)tCc>tTc p.S656F INPPL1_uc001osg.3_Missense_Mutation_p.S414F NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 656 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GAGGAGATCTCCTTCCCACCC 0.587000 9 10 0 0 0.010729 0 0 EXPH5 23086 broad.mit.edu 37 11 108382077 108382077 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:108382077C>T uc001pkk.3 - 5 4268 c.4157G>A c.(4156-4158)gGc>gAc p.G1386D EXPH5_uc010rvz.2_Missense_Mutation_p.G1230D|EXPH5_uc010rvy.2_Missense_Mutation_p.G1198D NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1386 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CAACTTTTTGCCTCTTTCCTT 0.343000 3 21 0 0 0.002780 0 0 COG1 9382 broad.mit.edu 37 17 71193158 71193158 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:71193158T>G uc002jjg.3 + 2 716 c.680T>G c.(679-681)cTc>cGc p.L227R COG1_uc002jjf.1_Missense_Mutation_p.L227R|COG1_uc002jjh.3_Missense_Mutation_p.L227R NM_018714 NP_061184 Q8WTW3 COG1_HUMAN Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA. 227 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) CGCCAAGCCCTCACAGACTTC 0.507000 31 20 0 0 0.008871 0 0 TMEM120B 144404 broad.mit.edu 37 12 122181600 122181600 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:122181600T>C uc001ubc.4 + 1 279 c.135T>C c.(133-135)agT>agC p.S45S TMEM120B_uc009zxh.3_Silent_p.S45S NM_001080825 NP_001074294 A0PK00 T120B_HUMAN Homo sapiens transmembrane protein 120B (TMEM120B), mRNA. 45 integral to membrane p.S44S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) TGTGTAGCAGTTCCATCAGTA 0.592000 34 27 0 0 0.013726 0 0 RNF216 54476 broad.mit.edu 37 7 5754796 5754796 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:5754796C>T uc003sox.2 - 10 1980 c.1721G>A c.(1720-1722)tGc>tAc p.C574Y RNF216_uc010ksz.2_Missense_Mutation_p.C139Y|RNF216_uc010kta.2_Missense_Mutation_p.C139Y|RNF216_uc003soy.2_Missense_Mutation_p.C517Y|RNF216_uc011jwj.2_Missense_Mutation_p.C139Y NM_207111 NP_996994 Q9NWF9 RN216_HUMAN Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA. 517 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.R573R(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CCCATAGCAGCAGCGACACTC 0.517000 205 63 0 0 0.014410 0 0 FERD3L 222894 broad.mit.edu 37 7 19184566 19184566 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:19184566G>A uc003suo.1 - 0 479 c.420C>T c.(418-420)atC>atT p.I140I BC043576_uc003sun.1_Non-coding_Transcript NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA. 140 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 GGAGGGTCTCGATCCGGGACA 0.567000 34 34 0 0 0.003755 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5664584 5664584 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5664584C>T uc001mbh.3 + 7 1269 c.1112C>T c.(1111-1113)tCc>tTc p.S371F HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.S725F|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.S371F|TRIM6-TRIM34_uc009yer.3_Intron NM_001003827 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA. 725 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AGAACATATTCCCGCCATATG 0.423000 23 23 0 0 0.012319 0 0 CSMD2 114784 broad.mit.edu 37 1 34068071 34068071 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:34068071G>A uc001bxm.1 - 42 6785 c.6608C>T c.(6607-6609)tCc>tTc p.S2203F CSMD2_uc001bxn.1_Missense_Mutation_p.S2205F|CSMD2_uc001bxo.1_Missense_Mutation_p.S1076F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2205 CUB 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACAGTCCTGGGAGCTGGAGTA 0.597000 3 38 0 0 0.006999 0 0 ANK1 286 broad.mit.edu 37 8 41554074 41554074 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:41554074C>T uc003xok.3 - 25 2851 c.2767G>A c.(2767-2769)Ggt>Agt p.G923S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.G239S|ANK1_uc003xoi.3_Missense_Mutation_p.G923S|ANK1_uc003xoj.3_Missense_Mutation_p.G923S|ANK1_uc003xol.3_Missense_Mutation_p.G923S|ANK1_uc003xom.3_Missense_Mutation_p.G964S NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 923 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ATGGAACCACCCCGGGCGTCA 0.647000 11 15 0 0 0.004007 0 0 BDP1 55814 broad.mit.edu 37 5 70806623 70806623 + Missense_Mutation SNP C T T rs5868598 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 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 66 72 0 0 0.014410 0 0 LILRP2 79166 broad.mit.edu 37 19 55221911 55221911 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:55221911C>T uc002qgs.1 + 0 c.2311C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GCAGACCCTCCCTCTCGGTGC 0.637000 20 19 0 0 0.010504 0 0 C6orf222 389384 broad.mit.edu 37 6 36291943 36291943 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:36291943G>A uc003oly.3 - 6 1371 c.1193C>T c.(1192-1194)tCc>tTc p.S398F NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 398 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TTGGAGCATGGAAATGATCTT 0.483000 126 61 0 0 0.014410 0 0 ANKS1B 56899 broad.mit.edu 37 12 99145169 99145169 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:99145169G>A uc001tge.2 - 24 4053 c.3636C>T c.(3634-3636)ccC>ccT p.P1212P ANKS1B_uc001tgf.2_Silent_p.P728P|ANKS1B_uc001tgk.3_Silent_p.P509P|ANKS1B_uc010svd.2_Silent_p.P218P|ANKS1B_uc001tgd.2_Silent_p.P378P|ANKS1B_uc009ztp.3_Silent_p.P243P|ANKS1B_uc010svf.2_Silent_p.P242P|ANKS1B_uc010sve.2_Silent_p.P242P|ANKS1B_uc001tgh.4_Silent_p.P218P|ANKS1B_uc009ztr.3_Silent_p.P402P|ANKS1B_uc001tgj.3_Silent_p.P378P|ANKS1B_uc001tgi.3_Silent_p.P462P|ANKS1B_uc009zts.2_Silent_p.P438P|ANKS1B_uc001tgg.4_Silent_p.P310P|ANKS1B_uc010svg.2_Silent_p.P347P NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 1212 PID. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GCTTGGGGATGGGTTTGGAGG 0.488000 22 24 0 0 0.003330 0 0 SLIT3 6586 broad.mit.edu 37 5 168098390 168098390 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:168098390C>T uc010jjg.3 - 33 4381 c.3961G>A c.(3961-3963)Gag>Aag p.E1321K SLIT3_uc003mab.3_Missense_Mutation_p.E1314K NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1314 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTGCAGCTCGTTGTTGATG 0.662000 14 12 0 0 0.003163 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812573 16812573 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:16812573C>T uc010rcu.1 - 19 2937 c.2922G>A c.(2920-2922)gtG>gtA p.V974V PLEKHA7_uc001mmo.3_Silent_p.V973V|PLEKHA7_uc001mmm.3_Silent_p.V76V|PLEKHA7_uc010rcv.2_Silent_p.V548V|PLEKHA7_uc001mmn.3_Silent_p.V682V NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 973 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AATCCCCATTCACACACTGCC 0.627000 16 12 0 0 0.002450 0 0 NUP210 23225 broad.mit.edu 37 3 13363284 13363284 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:13363284T>G uc003bxv.1 - 35 5050 c.4967A>C c.(4966-4968)aAg>aCg p.K1656T NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1656 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GCTCAGGTGCTTCCGCTGCTT 0.592000 94 97 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10116815 10116815 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:10116815C>T uc002mmq.1 - 1 267 c.181G>A c.(181-183)Ggt>Agt p.G61S NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 61 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCCGGTCACCCTCTGGAGTC 0.652000 8 15 0 0 0.004007 0 0 COL15A1 1306 broad.mit.edu 37 9 101796861 101796861 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:101796861G>A uc004azb.1 + 16 2280 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 692 Triple-helical region 2 (COL2). 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) CTCAGTTGGTGAAAAGGTaaa 0.353000 2 11 0 0 0.008291 0 0 SRCAP 10847 broad.mit.edu 37 16 30736020 30736020 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:30736020C>T uc002dze.1 + 24 5660 c.5275C>T c.(5275-5277)Cca>Tca p.P1759S SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1554S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1759 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCCAGCTTCTCCAGTGGGccc 0.617000 20 20 0 0 0.010504 0 0 OR10G3 26533 broad.mit.edu 37 14 22038829 22038829 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:22038829C>T uc010tmb.2 - 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) ATACGGAATTCCTGTCAGGAT 0.398000 18 18 0 0 0.008871 0 0 HCLS1 3059 broad.mit.edu 37 3 121350950 121350950 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:121350950C>T uc003eeh.4 - 12 1447 c.1322G>A c.(1321-1323)gGa>gAa p.G441E HCLS1_uc011bjj.2_Missense_Mutation_p.G404E NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 441 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity p.G441G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CAACCTACCTCCTTGGTAATC 0.537000 66 30 0 0 0.003755 0 0 TAZ 6901 broad.mit.edu 37 X 153640454 153640454 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:153640454G>A uc010nuy.3 + 1 195 c.195G>A c.(193-195)agG>agA p.R65R DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fkx.3_Silent_p.R47R|TAZ_uc004fky.3_Silent_p.R47R|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Silent_p.R47R|TAZ_uc004flb.3_Silent_p.R47R|TAZ_uc004flc.4_Intron NM_181312 NP_851829 Q16635 TAZ_HUMAN Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 47 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCACAACAGGGAGGTGCTGT 0.667000 OREG0003602 type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 24 9 0 0 0.006214 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820428 178820428 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:178820428C>T uc001gma.3 - 5 1788 c.1312G>A c.(1312-1314)Gga>Aga p.G438R RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G438R NM_004673 NP_004664 O95841 ANGL1_HUMAN Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA. 438 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 CACCAGCCTCCTTTATGAAAG 0.403000 86 17 0 0 0.007413 0 0 FAM211A 388341 broad.mit.edu 37 17 16365616 16365616 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:16365616C>T uc010cph.1 - 1 507 c.331G>A c.(331-333)Gac>Aac p.D111N FAM211A_uc002gqh.2_Missense_Mutation_p.D111N|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron NM_001113567 NP_001107039 Q8NAA5 CQ076_HUMAN Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA. 111 lung(1) 1 ATGATGAGGTCGTGTGTGATG 0.622000 10 12 0 0 0.001855 0 0 NUDT21 11051 broad.mit.edu 37 16 56485055 56485055 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:56485055G>A uc002eja.3 - 0 207 c.60C>T c.(58-60)ttC>ttT p.F20F OGFOD1_uc002ejb.3_5'Flank|OGFOD1_uc002ejc.3_5'Flank NM_007006 NP_008937 O43809 CPSF5_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA. 20 Necessary for RNA-binding. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity p.F20F(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 7 ACTTGTTGCCGAACTGAGTGA 0.642000 51 40 0 0 0.014410 0 0 PXDNL 137902 broad.mit.edu 37 8 52359630 52359630 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:52359630C>T uc003xqu.4 - 11 1560 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 487 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCTTGACATTCATATTGGCCT 0.468000 77 73 0 0 0.014410 0 0 DEGS2 123099 broad.mit.edu 37 14 100615377 100615377 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:100615377C>T uc001ygx.2 - 1 841 c.753G>A c.(751-753)tgG>tgA p.W251* NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA. 251 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) TGAAGGTGATCCAGTTGAGAG 0.632000 40 42 0 0 0.014410 0 0 PRKCQ 5588 broad.mit.edu 37 10 6527122 6527122 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:6527122C>T uc001iji.1 - 8 1193 c.1109G>A c.(1108-1110)gGa>gAa p.G370E PRKCQ_uc001ijj.2_Missense_Mutation_p.G337E|PRKCQ_uc009xim.2_Missense_Mutation_p.G337E|PRKCQ_uc009xin.2_Missense_Mutation_p.G301E|PRKCQ_uc010qax.2_Missense_Mutation_p.G212E NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 337 T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ACCTCTTTTTCCCGGTGTCGG 0.433000 90 86 0 0 0.014410 0 0 SLC33A1 9197 broad.mit.edu 37 3 155560404 155560404 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:155560404G>A uc003fan.4 - 1 1242 c.780C>T c.(778-780)ttC>ttT p.F260F SLC33A1_uc003fao.2_Silent_p.F260F NM_001190992 NP_004724 O00400 ACATN_HUMAN Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA. 260 cell death|transmembrane transport Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGAAAAAAAGGAAATCTGAAA 0.234000 17 8 0 0 0.004482 0 0 MYEOV 26579 broad.mit.edu 37 11 69063750 69063750 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:69063750G>A uc001oov.3 + 2 1283 c.833G>A c.(832-834)aGg>aAg p.R278K MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.R278K|MYEOV_uc001oow.3_Missense_Mutation_p.R220K NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA. 278 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GGAGTTAGGAGGACTGGCCAG 0.652000 6 3 0 0 0.004672 0 0 HCLS1 3059 broad.mit.edu 37 3 121353216 121353216 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:121353216C>T uc003eeh.4 - 9 866 c.741G>A c.(739-741)gaG>gaA p.E247E HCLS1_uc011bjj.2_Silent_p.E210E|HCLS1_uc011bjk.1_Non-coding_Transcript NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 247 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TCCTCTTCTCCTCAGCCATGG 0.557000 38 37 0 0 0.008740 0 0 NLRP11 204801 broad.mit.edu 37 19 56300200 56300200 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56300200C>T uc010ygf.2 - 10 3539 c.2828G>A c.(2827-2829)aGc>aAc p.S943N NLRP11_uc002qlz.3_Missense_Mutation_p.S790N|NLRP11_uc002qmb.3_Missense_Mutation_p.S844N|NLRP11_uc002qmc.3_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 943 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACAATCTGGGCTGATCAAGCT 0.358000 23 26 0 0 0.009535 0 0 CD163 9332 broad.mit.edu 37 12 7632467 7632467 + Nonstop_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:7632467A>T uc001qsz.3 - 15 3597 c.3469T>A c.(3469-3471)Taa>Aaa p.*1157K CD163_uc001qta.3_3'UTR|CD163_uc009zfw.2_3'UTR NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 0 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCACTGGGTTATAAATTCCCA 0.388000 29 20 0 0 0.014323 0 0 UGT1A1 54658 broad.mit.edu 37 2 234545447 234545447 + Silent SNP C T T rs142395215 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:234545447C>T uc002vur.3 + 0 325 c.279C>T c.(277-279)ttC>ttT p.F93F UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.F93F NM_019075 NP_061948 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA. 100 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 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) TCATGGTTTTCGCCCATGCTC 0.418000 65 60 0 0 0.014410 0 0 IFITM2 10581 broad.mit.edu 37 11 308250 308250 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:308250G>A uc001lox.4 + 0 144 c.58G>A c.(58-60)Gag>Aag p.E20K NM_006435 NP_006426 Q01629 IFM2_HUMAN Homo sapiens interferon induced transmembrane protein 2 (1-8D) (IFITM2), mRNA. 20 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) TCCCAACTACGAGATGCTCAA 0.597000 69 58 0 0 0.014410 0 0 MTMR8 55613 broad.mit.edu 37 X 63574672 63574672 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:63574672G>A uc004dvs.3 - 3 543 c.453C>T c.(451-453)gcC>gcT p.A151A MTMR8_uc011mou.2_Silent_p.A151A NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN Homo sapiens myotubularin related protein 8 (MTMR8), mRNA. 151 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AGTTTCTGTTGGCATCTGTTA 0.383000 36 24 0 0 0.010818 0 0 SSPO 23145 broad.mit.edu 37 7 149493701 149493701 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:149493701C>T uc010lpk.3 + 44 6688 c.6688C>T c.(6688-6690)Ctg>Ttg p.L2230L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2233 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACCGGCACCTCTGTGCCCAGG 0.657000 18 11 0 0 0.008291 0 0 HRG 3273 broad.mit.edu 37 3 186395524 186395524 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:186395524T>G uc003fqq.3 + 6 1453 c.1430T>G c.(1429-1431)tTt>tGt p.F477C NM_000412 NP_000403 P04196 HRG_HUMAN Homo sapiens histidine-rich glycoprotein (HRG), mRNA. 477 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding p.F477L(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GAGGCCAATTTTCCCAGCTTC 0.502000 55 37 0 0 0.004289 0 0 LILRA4 23547 broad.mit.edu 37 19 54849831 54849831 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:54849831C>T uc002qfj.3 - 2 248 c.191G>A c.(190-192)gGa>gAa p.G64E LILRA4_uc002qfi.3_5'UTR NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 64 Ig-like C2-type 1. integral to membrane receptor activity p.G64E(2) NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CATTGAGTTTCCCTCTTTATC 0.542000 50 47 0 0 0.014410 0 0 YY2 404281 broad.mit.edu 37 X 21874647 21874647 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:21874647C>T uc011mjp.2 + 0 543 c.45C>T c.(43-45)atC>atT p.I15I MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN Homo sapiens YY2 transcription factor (YY2), mRNA. 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 ACCTGGAGATCCCGGCAGATA 0.527000 68 65 0 0 0.014410 0 0 ZNF212 7988 broad.mit.edu 37 7 148950696 148950696 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:148950696C>T uc003wfp.3 + 4 806 c.678C>T c.(676-678)ggC>ggT p.G226G NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CACAGGAAGGCCCTGCGGATC 0.507000 35 70 0 0 0.014410 0 0 CEACAM7 1087 broad.mit.edu 37 19 42181356 42181356 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:42181356C>T uc002ori.1 - 3 784 c.782G>A c.(781-783)gGg>gAg p.G261E CEACAM7_uc010ehx.2_Missense_Mutation_p.G261E|CEACAM7_uc010ehy.1_Missense_Mutation_p.G168E NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 261 anchored to membrane|integral to membrane|plasma membrane p.A260T(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CAGAGCCATCCCAGCCAGTAC 0.483000 35 20 0 0 0.010504 0 0 DDX27 55661 broad.mit.edu 37 20 47859199 47859199 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:47859199C>T uc002xuh.3 + 18 2339 c.2278C>T c.(2278-2280)Ctg>Ttg p.L760L NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA. 760 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAAGAAGGCCCTGAAACAGTA 0.413000 59 44 0 0 0.014410 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810605 106810605 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:106810605G>A uc009yxn.1 - 3 1177 c.787C>T c.(787-789)Cgg>Tgg p.R263W GUCY1A2_uc001pjg.1_Missense_Mutation_p.R263W|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R263W NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 263 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ACATCCAGCCGATAGATCTTC 0.463000 7 36 0 0 0.005524 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29849020 29849020 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:29849020C>T uc002hgn.1 + 5 1075 c.846C>T c.(844-846)aaC>aaT p.N282N RAB11FIP4_uc002hgo.2_Silent_p.N180N NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA. 282 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) AGAAAATCAACCTGCTCAATG 0.577000 53 36 0 0 0.014410 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413812 22413812 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:22413812G>A uc001yuf.3 + 0 351 c.111G>A c.(109-111)gtG>gtA p.V37V abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TCCTTGTTGTGATGGCCTTTG 0.493000 84 33 0 0 0.005524 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754840 140754840 + Nonsense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140754840C>A uc003ljy.2 + 0 1190 c.1190C>A c.(1189-1191)tCa>tAa p.S397* PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.S397* NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 400 Cadherin 4. 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) TTGGAAAAATCAGTTGGCAAT 0.453000 36 33 2.42023e-17 3.28196e-17 0.003271 1 0 SMAP2 64744 broad.mit.edu 37 1 40879873 40879873 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:40879873C>T uc001cfj.3 + 5 947 c.532C>T c.(532-534)Ccg>Tcg p.P178S SMAP2_uc010ojh.2_Missense_Mutation_p.P178S|SMAP2_uc001cfk.3_Missense_Mutation_p.P148S|SMAP2_uc021oma.1_Missense_Mutation_p.P173S|SMAP2_uc010oji.2_Missense_Mutation_p.P98S|SMAP2_uc010ojj.2_5'UTR NM_022733 NP_001185909 Q8WU79 SMAP2_HUMAN Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA. 178 Interaction with clathrin heavy chains (By similarity). regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding p.P178P(1) central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) GAAAAGCTCCCCGAAATCCAC 0.423000 5 44 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9065829 9065829 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9065829G>A uc002mkp.3 - 2 21821 c.21617C>T c.(21616-21618)tCc>tTc p.S7206F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7208 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T7205T(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 TGTGGCTTTGGATGTCTCTGA 0.488000 90 74 0 0 0.014410 0 0 NRAS 4893 broad.mit.edu 37 1 115258681 115258681 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:115258681G>A uc009wgu.3 - 1 355 c.101C>T c.(100-102)cCc>cTc p.P34L NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 34 Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.P34L(1)|p.D33H(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCTATGGTGGGATCATATTC 0.473000 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 2 47 0 0 0.014410 0 0 MARCO 8685 broad.mit.edu 37 2 119739064 119739064 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:119739064C>T uc002tln.1 + 8 978 c.846C>T c.(844-846)ttC>ttT p.F282F MARCO_uc010yyf.1_Silent_p.F204F NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 282 Collagen-like. F -> S (in dbSNP:rs6761637). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AAGGTGACTTCGGGAGGCCAG 0.527000 7 7 0 0 0.003080 0 0 CLEC4F 165530 broad.mit.edu 37 2 71046974 71046974 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:71046974G>A uc002shf.3 - 1 188 c.111C>T c.(109-111)ctC>ctT p.L37L CLEC4F_uc010yqv.1_Silent_p.L37L NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA. 37 endocytosis integral to membrane receptor activity|sugar binding p.R36M(1) endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TAGCCTGAACGAGCCTCGGTA 0.557000 18 17 0 0 0.010504 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736483 26736483 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:26736483G>A uc003acb.3 + 9 2293 c.2097G>A c.(2095-2097)ggG>ggA p.G699G SEZ6L_uc003acd.3_Silent_p.G699G|SEZ6L_uc011akd.2_Silent_p.G699G|SEZ6L_uc003ace.3_Silent_p.G699G|SEZ6L_uc011akc.2_Silent_p.G699G|SEZ6L_uc003acc.3_Silent_p.G699G|SEZ6L_uc003acf.1_Silent_p.G472G|SEZ6L_uc010gvc.1_Silent_p.G472G NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 699 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AGTACCTTGGGAACAGTGGCC 0.547000 51 47 0 0 0.014410 0 0 MCF2 4168 broad.mit.edu 37 X 138664631 138664631 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:138664631C>T uc011mwn.1 - 25 2995 c.2989G>A c.(2989-2991)Gat>Aat p.D997N MCF2_uc004fav.3_Silent_p.*942*|MCF2_uc004fau.3_Silent_p.*926*|MCF2_uc010nsh.2_Missense_Mutation_p.D852N|MCF2_uc011mwm.2_Missense_Mutation_p.D813N|MCF2_uc011mwl.2_Silent_p.*903*|MCF2_uc011mwo.1_Silent_p.*1002*|MCF2_uc004faw.2_Silent_p.*986* NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 0 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GTAGCTTCATCAATATAGGAG 0.448000 61 28 0 0 0.003271 0 0 PSG9 5678 broad.mit.edu 37 19 43772255 43772255 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:43772255C>T uc002owd.4 - 1 210 c.111G>A c.(109-111)acG>acA p.T37T PSG9_uc002owe.4_Silent_p.T37T|PSG9_uc010xwm.2_Silent_p.T37T|PSG9_uc002owf.4_Silent_p.T37T|PSG9_uc002owg.2_Silent_p.T37T NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 37 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGGCTTCAATCGTGACTTCGG 0.483000 87 76 0 0 0.014410 0 0 OR52D1 390066 broad.mit.edu 37 11 5510719 5510719 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5510719C>T uc010qzg.2 + 0 805 c.783C>T c.(781-783)tcC>tcT p.S261S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTCTTCTCCTTCCTCACCC 0.502000 43 33 0 0 0.003755 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508907 106508907 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:106508907G>A uc003vdv.4 + 1 986 c.901G>A c.(901-903)Gaa>Aaa p.E301K PIK3CG_uc003vdu.3_Missense_Mutation_p.E301K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E301K NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 301 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CAAGAACGGAGAAGAGATTCA 0.592000 47 15 0 0 0.003163 0 0 GAS2 2620 broad.mit.edu 37 11 22747927 22747927 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:22747927G>A uc009yie.3 + 3 663 c.357G>A c.(355-357)tgG>tgA p.W119* GAS2_uc001mqm.3_Nonsense_Mutation_p.W119*|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Nonsense_Mutation_p.W119* NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 119 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 TCTTATCCTGGTGCCGAGATT 0.393000 38 34 0 0 0.004878 0 0 SYNE2 23224 broad.mit.edu 37 14 64636996 64636996 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:64636996C>T uc001xgl.3 + 93 17281 c.17051C>T c.(17050-17052)gCt>gTt p.A5684V SYNE2_uc001xgm.3_Missense_Mutation_p.A5684V|SYNE2_uc010apy.3_Missense_Mutation_p.A2069V|SYNE2_uc001xgn.3_Missense_Mutation_p.A646V|SYNE2_uc021rui.1_Missense_Mutation_p.A604V|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_Missense_Mutation_p.A49V NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 5684 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGGCAGAATGCTGTCCAGGGT 0.463000 63 42 0 0 0.014410 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067521 11067521 + Silent SNP C T T rs35450949 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:11067521C>T uc010hdq.3 + 8 1323 c.912C>T c.(910-912)atC>atT p.I304I NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 304 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GGTCCCTGATCGCTCTCGGGA 0.532000 53 38 0 0 0.006999 0 0 ODZ1 10178 broad.mit.edu 37 X 123785911 123785911 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:123785911C>T uc010nqy.3 - 7 1496 c.1432G>A c.(1432-1434)Gat>Aat p.D478N ODZ1_uc011muj.2_Missense_Mutation_p.D477N|ODZ1_uc004euj.3_Missense_Mutation_p.D478N NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 478 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TGCTGTGTATCATCAGAGCCC 0.433000 59 29 0 0 0.008361 0 0 FNDC1 84624 broad.mit.edu 37 6 159654123 159654123 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:159654123G>A uc010kjv.3 + 10 2779 c.2579G>A c.(2578-2580)aGg>aAg p.R860K FNDC1_uc010kjw.1_Missense_Mutation_p.R745K NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 860 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCACCCCAGGGTTCCCTCT 0.622000 0 3 0 0 0.000602 0 0 MTTP 4547 broad.mit.edu 37 4 100529971 100529971 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:100529971G>A uc011cej.2 + 11 1700 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K MTTP_uc003hvc.4_Missense_Mutation_p.E536K NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 536 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TAAAGTTCATGAAAAGACTGT 0.398000 49 24 0 0 0.002780 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555733 125555733 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:125555733C>T uc010flu.3 + 18 3417 c.3053C>T c.(3052-3054)cCt>cTt p.P1018L CNTNAP5_uc002tno.3_Missense_Mutation_p.P1017L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 1017 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding p.P1017H(4) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GAACCCTATCCTGTGACCAAG 0.443000 13 13 0 0 0.004990 0 0 RASAL1 8437 broad.mit.edu 37 12 113553507 113553507 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:113553507G>A uc001tun.2 - 10 1237 c.936C>T c.(934-936)ctC>ctT p.L312L RASAL1_uc010syp.2_Silent_p.L312L|RASAL1_uc001tul.3_Silent_p.L312L|RASAL1_uc001tum.2_Silent_p.L312L|RASAL1_uc010syq.2_Silent_p.L312L|RASAL1_uc001tuo.4_Silent_p.L312L|RASAL1_uc010syr.2_Silent_p.L312L NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 312 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GGCCAAGAAAGAGTTTCACCA 0.647000 22 16 0 0 0.006122 0 0 HECW2 57520 broad.mit.edu 37 2 197086952 197086952 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:197086952C>T uc002utm.1 - 23 4312 c.4129G>A c.(4129-4131)Gaa>Aaa p.E1377K HECW2_uc002utl.1_Missense_Mutation_p.E1021K NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1377 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AATACTTCTTCGTTCACAGTG 0.453000 31 30 0 0 0.009535 0 0 CCP110 9738 broad.mit.edu 37 16 19548169 19548169 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:19548169C>T uc002dgl.4 + 3 1425 c.1178C>T c.(1177-1179)cCa>cTa p.P393L CCP110_uc002dgk.4_Missense_Mutation_p.P393L NM_001199022 NP_001185951 O43303 CP110_HUMAN Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA. 393 Interaction with CEP76. G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 ATAAATAACCCAATAAATGCC 0.383000 16 13 0 0 0.002450 0 0 PSG8 440533 broad.mit.edu 37 19 43259341 43259341 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:43259341C>T uc002ouo.2 - 3 885 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.E263K|PSG8_uc010ein.3_Missense_Mutation_p.E141K|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 263 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CTCTTAGGTTCACAGGTGAAG 0.473000 90 99 0 0 0.014410 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:95791437G>A uc001kjk.3 + 1 1268 c.634G>A c.(634-636)Gat>Aat p.D212N PLCE1_uc010qnx.2_Missense_Mutation_p.D212N NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 212 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity p.D212N(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388000 33 22 0 0 0.014323 0 0 KCNB2 9312 broad.mit.edu 37 8 73849880 73849880 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:73849880G>A uc003xzb.3 + 2 2878 c.2290G>A c.(2290-2292)Gga>Aga p.G764R NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 764 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.Q763K(1)|p.Q763H(1) 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) CCCCTCCCAGGGAGACAGACC 0.582000 48 33 0 0 0.003271 0 0 KNTC1 9735 broad.mit.edu 37 12 123060103 123060103 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:123060103C>T uc001ucv.3 + 27 2559 c.2396C>T c.(2395-2397)gCc>gTc p.A799V KNTC1_uc010taf.2_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Homo sapiens kinetochore associated 1 (KNTC1), mRNA. 799 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ATATTTGATGCCGTGCTCAAG 0.488000 3 4 0 0 0.000602 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49348810 49348810 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:49348810G>A uc002pkx.3 - 14 2181 c.1630C>T c.(1630-1632)Cct>Tct p.P544S PLEKHA4_uc010eml.3_Missense_Mutation_p.P519S NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 544 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TCGCCTCCAGGAGGCCGCCCC 0.577000 35 32 0 0 0.003271 0 0 GYS2 2998 broad.mit.edu 37 12 21693416 21693416 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:21693416G>A uc001rfb.3 - 13 1992 c.1737C>T c.(1735-1737)cgC>cgT p.R579R NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 579 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.R579H(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCCTTTGGCGGCGTGACTGTT 0.438000 77 72 0 0 0.014410 0 0 KRT16 3868 broad.mit.edu 37 17 39768556 39768556 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:39768556C>T uc002hxg.4 - 0 524 c.385G>A c.(385-387)Gcc>Acc p.A129T JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.A129T NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 129 Coil 1A.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) AGGTAGGAGGCCAGGCGGTCA 0.597000 40 36 0 0 0.014410 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55294968 55294968 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:55294968G>A uc010erz.1 + 7 964 c.926G>A c.(925-927)gGa>gAa p.G309E KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010yfl.2_5'Flank|KIR3DL2_uc021vbm.1_5'Flank|KIR2DL1_uc010erw.1_Missense_Mutation_p.G284E|KIR2DL1_uc002qgz.1_Missense_Mutation_p.G193E|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G283E NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 283 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity p.C308C(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) GAGTCTGCAGGAAACAGAACA 0.517000 3 35 0 0 0.007835 0 0 DPEP3 64180 broad.mit.edu 37 16 68011631 68011631 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:68011631C>T uc002evc.4 - 5 1027 c.933G>A c.(931-933)gtG>gtA p.V311V DPEP3_uc010cex.3_Silent_p.V311V NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA. 286 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GGGAGAAGATCACAGGAGCCT 0.498000 9 11 0 0 0.013537 0 0 CCNJ 54619 broad.mit.edu 37 10 97816608 97816608 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:97816608T>C uc010qoq.2 + 3 790 c.431T>C c.(430-432)cTt>cCt p.L144P LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.L144P|CCNJ_uc001kln.3_Missense_Mutation_p.L144P NM_001134375 NP_001127847 Q5T5M9 CCNJ_HUMAN Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA. 144 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) AACCTCTGCCTTCCAACAGCC 0.378000 43 46 0 0 0.014410 0 0 LPO 4025 broad.mit.edu 37 17 56332262 56332262 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:56332262G>A uc002ivt.3 + 8 1512 c.1196G>A c.(1195-1197)aGa>aAa p.R399K LPO_uc010wns.2_Missense_Mutation_p.R340K|LPO_uc010dcp.3_Missense_Mutation_p.R316K|LPO_uc010dcq.3_Missense_Mutation_p.R70K|LPO_uc010dcr.3_5'UTR NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 399 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GAACTAAAGAGACTCAACCCT 0.572000 78 53 0 0 0.014410 0 0 VANGL1 81839 broad.mit.edu 37 1 116225035 116225035 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:116225035C>T uc001efv.1 + 4 1134 c.863C>T c.(862-864)aCc>aTc p.T288I VANGL1_uc009wgy.1_Missense_Mutation_p.T286I|VANGL1_uc021ose.1_Missense_Mutation_p.T288I NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA. 288 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AAAGATTTCACCATCTATAAC 0.418000 4 62 0 0 0.014410 0 0 SKAP1 8631 broad.mit.edu 37 17 46257444 46257444 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:46257444T>A uc002ini.1 - 8 910 c.798A>T c.(796-798)gaA>gaT p.E266D SKAP1_uc002inj.1_Missense_Mutation_p.E266D|SKAP1_uc010dbd.1_Missense_Mutation_p.E172D|SKAP1_uc010dbe.1_Missense_Mutation_p.E266D NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA. 266 T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|plasma membrane SH2 domain binding|antigen binding|protein kinase binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TATCTTCTTCTTCTTTCTCCT 0.408000 57 38 0 0 0.009718 0 0 DOCK2 1794 broad.mit.edu 37 5 169081436 169081436 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:169081436C>T uc003maf.3 + 1 153 c.73C>T c.(73-75)Ccc>Tcc p.P25S DOCK2_uc011der.2_Non-coding_Transcript NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 25 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCGGAGCCCCCCAGCTCTC 0.557000 27 22 0 0 0.003954 0 0 VPS18 57617 broad.mit.edu 37 15 41192240 41192240 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:41192240C>T uc001zne.3 + 3 1563 c.1224C>T c.(1222-1224)ttC>ttT p.F408F NM_020857 NP_065908 Q9P253 VPS18_HUMAN Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA. 408 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding p.R407C(1) autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGAACCGCTTCGATCTGGCCA 0.632000 51 53 0 0 0.014410 0 0 PRB3 5544 broad.mit.edu 37 12 11420906 11420906 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:11420906G>A uc001qzs.3 - 2 315 c.277C>T c.(277-279)Cca>Tca p.P93S PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 93 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGACGAGGTGGGGGACCTTGG 0.632000 135 111 0 0 0.014410 0 0 KRT6A 3853 broad.mit.edu 37 12 52881690 52881690 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52881690G>A uc001sam.3 - 8 1718 c.1509C>T c.(1507-1509)gtC>gtT p.V503V NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 503 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCACTGCCGACACCACTGG 0.607000 21 16 0 0 0.010504 0 0 TRPC3 7222 broad.mit.edu 37 4 122846350 122846350 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:122846350C>T uc003ieg.2 - 2 1073 c.999G>A c.(997-999)cgG>cgA p.R333R TRPC3_uc010inr.2_Silent_p.R260R|TRPC3_uc003ief.2_Silent_p.R260R|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 248 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGGAGAGCTTCCGATAGTCAT 0.398000 32 26 0 0 0.003954 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48253490 48253491 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:48253490_48253491CC>TT uc002phm.2 + 2 369_370 c.345_346CC>TT c.(343-348)cccctt>ccTTtt p.L116F GLTSCR2_uc010elk.1_5'Flank NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA. 116 nucleolus p.L116I(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) TCAAGAAACCCCTTCGGGTTGA 0.530000 19 16 0 0 0.004672 0 0 FHL1 2273 broad.mit.edu 37 X 135289978 135289978 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:135289978C>T uc004ezo.3 + 4 688 c.359C>T c.(358-360)aCc>aTc p.T120I FHL1_uc010nrz.2_Missense_Mutation_p.T120I|FHL1_uc004ezq.2_Missense_Mutation_p.T120I|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.T120I|FHL1_uc011mvy.1_Missense_Mutation_p.T120I|FHL1_uc004ezn.2_Missense_Mutation_p.T120I|FHL1_uc022ceu.1_Missense_Mutation_p.T120I|FHL1_uc011mwa.1_Missense_Mutation_p.T149I|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.T136I|FHL1_uc004ezr.2_5'UTR NM_001159702 NP_001153174 Q13642 FHL1_HUMAN Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA. 120 LIM zinc-binding 2. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) TACAAGGGGACCGTCTGGCAC 0.557000 39 17 0 0 0.007413 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834317 125834317 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:125834317C>T uc001uhe.1 + 1 380 c.372C>T c.(370-372)atC>atT p.I124I TMEM132B_uc021rgl.1_Silent_p.I14I NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 124 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AATCCCACATCCTTGACAGCT 0.468000 57 60 0 0 0.014410 0 0 BEND2 139105 broad.mit.edu 37 X 18219951 18219951 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:18219951G>A uc004cyj.4 - 5 1171 c.1017C>T c.(1015-1017)ttC>ttT p.F339F BEND2_uc010nfb.2_Intron NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 339 p.V338L(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AGGGAGGGATGAAGACAGATA 0.448000 45 33 0 0 0.004878 0 0 MYLK 4638 broad.mit.edu 37 3 123512533 123512533 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:123512533G>A uc003ego.3 - 3 438 c.156C>T c.(154-156)ttC>ttT p.F52F MYLK_uc011bjw.2_Silent_p.F52F|MYLK_uc003egp.3_Silent_p.F52F|MYLK_uc003egq.3_Silent_p.F52F|MYLK_uc003egr.3_Silent_p.F52F|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.F52F|MYLK_uc003egu.1_Silent_p.F62F NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 52 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.F52F(4) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCCGCCCTTCGAACTTGGCGG 0.602000 22 22 0 0 0.003954 0 0 LTBP1 4052 broad.mit.edu 37 2 33500955 33500955 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:33500955G>A uc021vft.1 + 17 2980 c.2957G>A c.(2956-2958)aGc>aAc p.S986N LTBP1_uc002rou.3_Missense_Mutation_p.S660N|LTBP1_uc002rov.3_Missense_Mutation_p.S607N|LTBP1_uc010ymz.2_Missense_Mutation_p.S660N|LTBP1_uc010yna.2_Missense_Mutation_p.S607N NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 986 EGF-like 6; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TACTGTGACAGCGGGTACCGC 0.577000 46 34 0 0 0.013726 0 0 PSG5 5673 broad.mit.edu 37 19 43679591 43679591 + Missense_Mutation SNP G A A rs144866823 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:43679591G>A uc002ovu.3 - 3 871 c.740C>T c.(739-741)tCa>tTa p.S247L PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S247L NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 247 Ig-like C2-type 2. female pregnancy extracellular region p.S247L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATAGGTGAATGAAGGGTAAAT 0.483000 106 88 0 0 0.014410 0 0 OR5P3 120066 broad.mit.edu 37 11 7847181 7847181 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:7847181G>A uc010rbg.2 - 0 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGCCAGCAGGAAGCACTCGG 0.547000 54 42 0 0 0.013114 0 0 CDH9 1007 broad.mit.edu 37 5 26890572 26890572 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:26890572G>A uc003jgs.1 - 7 1524 c.1355C>T c.(1354-1356)cCt>cTt p.P452L CDH9_uc011cnv.1_Missense_Mutation_p.P45L NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 452 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTTATGCCAAGGAGATGATTC 0.398000 47 25 0 0 0.004656 0 0 GPR123 84435 broad.mit.edu 37 10 134906696 134906696 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:134906696C>T uc001llw.3 + 9 1967 c.1967C>T c.(1966-1968)tCc>tTc p.S656F GPR123_uc001llx.4_Intron Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 217 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) GAGGAAGATTCCTTCAGGCAG 0.542000 4 9 0 0 0.004482 0 0 CCDC38 120935 broad.mit.edu 37 12 96292419 96292419 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:96292419G>A uc001tek.2 - 5 694 c.460C>T c.(460-462)Ctc>Ttc p.L154F NM_182496 NP_872302 Q502W7 CCD38_HUMAN Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA. 154 p.L154I(2) breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCATCTTGGAGCTTTTTCTCT 0.403000 40 52 0 0 0.014410 0 0 HEG1 57493 broad.mit.edu 37 3 124731581 124731581 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:124731581G>A uc011bke.2 - 6 3210 c.3142C>T c.(3142-3144)Cct>Tct p.P1048S HEG1_uc003ehs.4_Missense_Mutation_p.P948S NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 948 EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TGGGGAGAAGGAGATGTTCCG 0.512000 8 18 0 0 0.004990 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147023 55147023 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:55147023G>A uc003pcl.3 + 7 1421 c.1106_splice c.e7-1 p.G369_splice HCRTR2_uc010jzv.3_Splice_Site NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 369 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGTTTGCCAGGAAAATTTCGA 0.438000 9 7 0 0 0.004482 0 0 KIAA1217 56243 broad.mit.edu 37 10 24816960 24816960 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:24816960C>T uc001iru.4 + 13 3397 c.2994C>T c.(2992-2994)atC>atT p.I998I KIAA1217_uc001irs.3_Silent_p.I918I|KIAA1217_uc001irt.4_Silent_p.I963I|KIAA1217_uc010qcy.2_Silent_p.I963I|KIAA1217_uc010qcz.2_Silent_p.I963I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.I681I|KIAA1217_uc001irz.3_Silent_p.I681I|KIAA1217_uc001irx.3_Silent_p.I681I|KIAA1217_uc001iry.3_Silent_p.I681I NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 998 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGGCCAATATCATGAAGTCAA 0.478000 46 40 0 0 0.009718 0 0 FOXN4 121643 broad.mit.edu 37 12 109723114 109723114 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:109723114T>C uc001toe.4 - 7 1001 c.896A>G c.(895-897)aAc>aGc p.N299S FOXN4_uc009zvg.3_Missense_Mutation_p.N96S|FOXN4_uc001tof.4_Missense_Mutation_p.N119S NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN Homo sapiens forkhead box N4 (FOXN4), mRNA. 299 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 CTCACCAGGGTTGGCCATACT 0.617000 7 3 0 0 0.009096 0 0 DSCAM 1826 broad.mit.edu 37 21 41711215 41711215 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:41711215C>T uc002yyq.1 - 6 1790 c.1338G>A c.(1336-1338)ccG>ccA p.P446P DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 446 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCTTGAGAATCGGGTCATCGT 0.582000 21 15 0 0 0.004007 0 0 OR2H1 26716 broad.mit.edu 37 6 29429826 29429827 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:29429826_29429827GG>AA uc003nmi.3 + 2 723_724 c.280_281GG>AA c.(280-282)gga>AAa p.G94K OR2H1_uc003nmj.1_Missense_Mutation_p.G94K|OR2H1_uc010jri.2_Missense_Mutation_p.G16K|OR2H1_uc021ytr.1_Missense_Mutation_p.G94K NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CAGCTTCCTGGGATGCTCTGTC 0.569000 72 32 0 0 0.004672 0 0 MECOM 2122 broad.mit.edu 37 3 168819869 168819869 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:168819869C>T uc011bpj.1 - 10 3153 c.2750G>A c.(2749-2751)gGa>gAa p.G917E MECOM_uc010hwk.1_Missense_Mutation_p.G743E|MECOM_uc003ffj.3_Missense_Mutation_p.G794E|MECOM_uc003ffi.3_Missense_Mutation_p.G729E|MECOM_uc011bpi.1_Missense_Mutation_p.G721E|MECOM_uc003ffn.3_Missense_Mutation_p.G729E|MECOM_uc003ffk.2_Missense_Mutation_p.G720E|MECOM_uc003ffl.2_Missense_Mutation_p.G880E|MECOM_uc011bpk.1_Missense_Mutation_p.G729E|MECOM_uc010hwn.2_Missense_Mutation_p.G908E NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity p.V917V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GCGCTCCTTTCCCTTCCGCAG 0.502000 25 24 0 0 0.004656 0 0 SCCPDH 51097 broad.mit.edu 37 1 246903475 246903475 + Splice_Site SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:246903475T>A uc001ibr.3 + 4 732 c.385_splice c.e4-1 p.F129_splice NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA. 129 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) ATTTTTTAGTTTCTGGAACTA 0.343000 2 105 0 0 0.014410 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427440 27427440 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:27427440G>A uc010eyv.1 - 9 1216 c.894C>T c.(892-894)ttC>ttT p.F298F SLC5A6_uc002rjd.3_Silent_p.F298F NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 298 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GCTGGAAGGGGAACACTGCAT 0.577000 20 17 0 0 0.008871 0 0 LILRB5 10990 broad.mit.edu 37 19 54760034 54760034 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:54760034G>A uc010yer.1 - 3 611 c.500C>T c.(499-501)tCc>tTc p.S167F LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.S176F|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.S176F|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 176 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGGCCTGGGATGGCCCTTT 0.552000 28 26 0 0 0.005443 0 0 OTOF 9381 broad.mit.edu 37 2 26691317 26691317 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:26691317C>T uc002rhk.3 - 32 4176 c.4049G>A c.(4048-4050)gGa>gAa p.G1350E OTOF_uc010yla.2_Missense_Mutation_p.G80E|OTOF_uc002rhh.3_Missense_Mutation_p.G583E|OTOF_uc002rhi.3_Missense_Mutation_p.G660E|OTOF_uc002rhj.3_Missense_Mutation_p.G583E NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 1350 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAGTCAATTCCAGAGGGCTC 0.562000 39 31 0 0 0.006230 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912826 94912826 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94912826G>A uc001ydd.1 - 2 819 c.759C>T c.(757-759)ttC>ttT p.F253F NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 253 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GGTCATAGAGGAATCTGTGCA 0.517000 50 51 0 0 0.014410 0 0 GLIS3 169792 broad.mit.edu 37 9 3932396 3932396 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:3932396C>T uc003zhx.1 - 5 2660 c.1947G>A c.(1945-1947)aaG>aaA p.K649K GLIS3_uc010mhf.1_Silent_p.K43K|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.K494K|GLIS3_uc003zhy.1_Silent_p.K427K|GLIS3_uc003zhz.1_Silent_p.K427K NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 494 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AAGAATGTGCCTTCACATGCT 0.378000 57 52 0 0 0.014410 0 0 HAUS2 55142 broad.mit.edu 37 15 42858950 42858950 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:42858950A>G uc001zqe.3 + 5 704 c.644A>G c.(643-645)gAt>gGt p.D215G HAUS2_uc010udi.2_Missense_Mutation_p.D184G|HAUS2_uc001zqf.3_Missense_Mutation_p.D121G NM_018097 NP_060567 Q9NVX0 HAUS2_HUMAN Homo sapiens HAUS augmin-like complex, subunit 2 (HAUS2), transcript variant 1, mRNA. 215 G2/M transition of mitotic cell cycle|cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|cytosol|microtubule|spindle endometrium(1)|large_intestine(1)|lung(1) 3 TATAAACATGATATTATAATG 0.318000 19 20 0 0 0.008871 0 0 SYN2 6854 broad.mit.edu 37 3 12183413 12183413 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:12183413T>A uc003bwm.3 + 5 596 c.432T>A c.(430-432)ttT>ttA p.F144L SYN2_uc003bwl.1_Missense_Mutation_p.F144L NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 148 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGGCAGAATTTTCAGAGCTCA 0.473000 241 204 0 0 0.014410 0 0 MYT1L 23040 broad.mit.edu 37 2 1926650 1926650 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:1926650C>T uc002qxe.3 - 9 1718 c.891G>A c.(889-891)atG>atA p.M297I MYT1L_uc002qxd.3_Missense_Mutation_p.M297I|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 297 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGACGTAATTCATATTTCTAC 0.463000 74 68 0 0 0.014410 0 0 TEX19 400629 broad.mit.edu 37 17 80320057 80320057 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:80320057G>A uc002keq.3 + 1 341 c.31G>A c.(31-33)Gaa>Aaa p.E11K TEX19_uc021ufp.1_Missense_Mutation_p.E11K NM_207459 NP_997342 Q8NA77 TEX19_HUMAN Homo sapiens testis expressed 19 (TEX19), mRNA. 11 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 GCGGTATGAGGAAGAGGGCAT 0.567000 65 52 0 0 0.014410 0 0 GPR174 84636 broad.mit.edu 37 X 78426648 78426648 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:78426648G>A uc004edg.1 + 0 180 c.144G>A c.(142-144)atG>atA p.M48I NM_032553 NP_115942 Q9BXC1 GP174_HUMAN Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA. 48 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 ATGGTTATATGAAAGAAACAA 0.368000 HNSCC(63;0.18) 9 8 0 0 0.004482 0 0 GABRA3 2556 broad.mit.edu 37 X 151336938 151336938 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:151336938G>A uc010ntk.1 - 9 1481 c.1241C>T c.(1240-1242)tCc>tTc p.S414F NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 414 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGAGATGGTGGAAAATTCAGT 0.547000 101 145 0 0 0.014410 0 0 AMFR 267 broad.mit.edu 37 16 56423199 56423200 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:56423199_56423200CC>TT uc002eiy.3 - 8 1378_1379 c.1173_1174GG>AA c.(1171-1176)agggaa>agAAaa p.E392K AMFR_uc002eix.3_Intron NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN Homo sapiens autocrine motility factor receptor (AMFR), mRNA. 392 ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TGATGTTCTTCCCTGACACGAT 0.455000 49 36 0 0 0.004672 0 0 NBPF10 100132406 broad.mit.edu 37 1 144815953 144815953 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:144815953A>G uc009wig.1 + 10 1512 c.1318A>G c.(1318-1320)Aat>Gat p.N440D NBPF10_uc010oxo.1_Missense_Mutation_p.N442D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.N102D NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 442 p.N184D(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAACGATGACAATGAAGATGT 0.423000 15 7 0 0 0.004482 0 0 DNAH9 1770 broad.mit.edu 37 17 11608399 11608399 + Missense_Mutation SNP G A A rs149294395 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:11608399G>A uc002gne.3 + 25 5517 c.5449G>A c.(5449-5451)Gag>Aag p.E1817K DNAH9_uc010coo.3_Missense_Mutation_p.E1111K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1817 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGGGATGACGAGGTCAAACA 0.502000 47 42 0 0 0.010771 0 0 MAPK4 5596 broad.mit.edu 37 18 48190365 48190365 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:48190365G>A uc002lev.3 + 1 1037 c.37G>A c.(37-39)Ggg>Agg p.G13R MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.G13R NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 13 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CAGTGTCTATGGGTATGACCT 0.602000 41 34 0 0 0.004289 0 0 KRT85 3891 broad.mit.edu 37 12 52756740 52756740 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52756740C>T uc001sag.3 - 5 1095 c.975G>A c.(973-975)gtG>gtA p.V325V NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 325 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity p.T324T(1) NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CATGCCTGATCACCGTGGCCT 0.582000 29 22 0 0 0.003954 0 0 SCAND3 114821 broad.mit.edu 37 6 28541304 28541304 + Missense_Mutation SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:28541304T>C uc003nlo.3 - 3 2980 c.2362A>G c.(2362-2364)Agt>Ggt p.S788G NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 788 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ggttgtgaacttatttcttta 0.328000 44 24 0 0 0.002780 0 0 QRSL1 55278 broad.mit.edu 37 6 107088727 107088727 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:107088727C>T uc003prm.3 + 2 330 c.214C>T c.(214-216)Cct>Tct p.P72S QRSL1_uc003prl.2_Missense_Mutation_p.P72S NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA. 72 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) AGATGGAATTCCTATTGCAGT 0.328000 14 131 0 0 0.014410 0 0 FARP1 10160 broad.mit.edu 37 13 99037972 99037972 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:99037972G>A uc001vnh.3 + 7 902 c.663G>A c.(661-663)cgG>cgA p.R221R FARP1_uc001vnj.3_Silent_p.R221R NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA. 221 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTGCCCGTCGGCTAGAGATGT 0.488000 47 48 0 0 0.014410 0 0 OR2L1P 26247 broad.mit.edu 37 1 248153829 248153829 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:248153829G>A uc001idv.1 + 0 261 c.17G>A c.(16-18)gGa>gAa p.G6E OR2L13_uc001ids.3_Intron Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA. lung(11) 11 TTTCTGTATGGAAACAAGTCT 0.423000 6 248 0 0 0.014410 0 0 CCDC65 85478 broad.mit.edu 37 12 49314977 49314977 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:49314977G>A uc001rso.3 + 7 1433 c.1206G>A c.(1204-1206)gaG>gaA p.E402E NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA. 402 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 TAGGAATGGAGAATTTCTGGA 0.517000 20 17 0 0 0.008871 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062171 76062171 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:76062171G>A uc001oxh.1 - 4 2023 c.2023C>T c.(2023-2025)Cct>Tct p.P675S PRKRIR_uc021qnn.1_Missense_Mutation_p.P500S|PRKRIR_uc010rrz.1_Missense_Mutation_p.P500S NM_004705 NP_004696 O43422 P52K_HUMAN Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA. 675 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TACACATTAGGAAAAAACTTG 0.428000 51 38 0 0 0.006999 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54107533 54107533 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:54107533G>A uc001sef.3 - 12 1887 c.1743C>T c.(1741-1743)ccC>ccT p.P581P CALCOCO1_uc001see.3_Silent_p.P82P|CALCOCO1_uc010som.2_Silent_p.P496P|CALCOCO1_uc010son.2_Silent_p.P458P|CALCOCO1_uc009znd.3_Silent_p.P581P|CALCOCO1_uc001seg.3_Silent_p.P406P|CALCOCO1_uc001seh.2_Silent_p.P581P NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA. 581 C-terminal AD (CTNNB1 binding site) (By similarity). Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 GAGGAGAAATGGGAGCCGGCT 0.622000 42 47 0 0 0.014410 0 0 LOC646813 646813 broad.mit.edu 37 11 50379486 50379486 + RNA SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:50379486T>A uc001nhe.2 + 5 c.969T>A LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. tgttttgttttTTTGCCTGTC 0.318000 4 4 0 0 0.009096 0 0 SCN5A 6331 broad.mit.edu 37 3 38592955 38592955 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:38592955C>T uc021wvo.1 - 26 4960 c.4908G>A c.(4906-4908)ctG>ctA p.L1636L SCN5A_uc021wvk.1_Silent_p.L1603L|SCN5A_uc021wvl.1_Silent_p.L1582L|SCN5A_uc021wvm.1_Silent_p.L1618L|SCN5A_uc021wvn.1_Silent_p.L1635L|SCN5A_uc021wvp.1_Silent_p.L1636L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.L1448L|SCN5A_uc021wvi.1_Silent_p.L1502L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1636 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCCTCGGATCAGTCTGAGGA 0.597000 44 40 0 0 0.007835 0 0 PCSK5 5125 broad.mit.edu 37 9 78938195 78938195 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:78938195G>A uc004akc.2 + 30 4787 c.4249G>A c.(4249-4251)Gag>Aag p.E1417K NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 666 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGAGACTAAGGAGTGCAGAGG 0.507000 2 19 0 0 0.010504 0 0 DPPA3 359787 broad.mit.edu 37 12 7869615 7869615 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:7869615G>A uc001qtf.3 + 3 500 c.422G>A c.(421-423)tGg>tAg p.W141* NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 141 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) TCTAATGGATGGGATCCTTCT 0.368000 96 89 0 0 0.014410 0 0 KRT74 121391 broad.mit.edu 37 12 52962062 52962062 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52962062C>T uc001sap.1 - 6 1294 c.1246G>A c.(1246-1248)Gag>Aag p.E416K NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 416 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GCCAGCTCCTCCTTGGCCTGG 0.652000 33 30 0 0 0.009535 0 0 TSPAN12 23554 broad.mit.edu 37 7 120455792 120455792 + Silent SNP C T T rs139536082 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:120455792C>T uc003vjk.3 - 4 725 c.351G>A c.(349-351)caG>caA p.Q117Q NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 117 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) CCATAAGTTCCTGTTCATATG 0.338000 16 18 0 0 0.010504 0 0 NF1 4763 broad.mit.edu 37 17 29553501 29553501 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:29553501C>T uc002hgg.3 + 17 2433 c.2050C>T c.(2050-2052)Cag>Tag p.Q684* NF1_uc002hgh.3_Nonsense_Mutation_p.Q684*|NF1_uc010csn.2_Nonsense_Mutation_p.Q544*|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 684 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.Q684*(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCGACAAGCCCAGACCAAACT 0.507000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 31 22 0 0 0.002780 0 0 KCTD11 147040 broad.mit.edu 37 17 7256709 7256709 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:7256709G>A uc002gge.4 + 0 1502 c.448G>A c.(448-450)Gag>Aag p.E150K TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA. 150 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) GGATAGGGCAGAGGGGAGCCC 0.642000 38 26 0 0 0.009535 0 0 GRIA3 2892 broad.mit.edu 37 X 122538605 122538605 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:122538605G>A uc004etq.4 + 9 1632 c.1340G>A c.(1339-1341)gGa>gAa p.G447E GRIA3_uc004etr.4_Missense_Mutation_p.G447E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G431E NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 447 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CAACTGGAAGGAAATGAACGA 0.373000 60 23 0 0 0.005443 0 0 GPR98 84059 broad.mit.edu 37 5 90103553 90103553 + Splice_Site SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:90103553C>G uc003kju.3 + 73 15068 c.14972_splice c.e73+1 p.R4991_splice GPR98_uc003kjt.3_Splice_Site_p.R2697_splice|GPR98_uc003kjw.3_Splice_Site_p.R652_splice NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4991 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCTCAACTCCGGTAAGACCA 0.483000 27 28 0 0 0.005443 0 0 POF1B 79983 broad.mit.edu 37 X 84561243 84561243 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:84561243C>T uc004eer.2 - 11 1407 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K POF1B_uc004ees.3_Missense_Mutation_p.E421K NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 421 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TATTCCAGTTCTTTTAGTCTG 0.338000 59 42 0 0 0.010771 0 0 C15orf2 23742 broad.mit.edu 37 15 24923385 24923385 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:24923385G>A uc001ywo.3 + 0 2845 c.2371G>A c.(2371-2373)Gat>Aat p.D791N NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 791 cell differentiation|multicellular organismal development|spermatogenesis p.H790L(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CAGTGCCCATGATTTCCTGAG 0.537000 77 69 0 0 0.014410 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362198 49362198 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:49362198G>A uc002pkx.3 - 7 1442 c.891C>T c.(889-891)ccC>ccT p.P297P PLEKHA4_uc010eml.3_Silent_p.P297P NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA. 297 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GTCCTCGGCGGGGAGTAGGGG 0.662000 31 21 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179585251 179585251 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179585251C>T uc021vsy.1 - 76 19731 c.19506G>A c.(19504-19506)aaG>aaA p.K6502K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K3163K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7429 Ig-like 46. 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) TTTTAAATTTCTTGCTGTTTC 0.378000 14 20 0 0 0.008871 0 0 DOT1L 84444 broad.mit.edu 37 19 2216683 2216683 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:2216683C>T uc002lvc.1 + 5 976 c.209C>T c.(208-210)cCg>cTg p.P70L DOT1L_uc002lvb.4_Missense_Mutation_p.P776L|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.P70L NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 776 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) AGGCTGTCCCCGGCCAAGATT 0.692000 23 26 0 0 0.009535 0 0 LIPK 643414 broad.mit.edu 37 10 90497538 90497538 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:90497538G>A uc010qmv.2 + 6 816 c.816_splice c.e6+1 p.M272_splice NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN Homo sapiens lipase, family member K (LIPK), mRNA. 272 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) ACTTAAATATGGTAGGTGTAA 0.388000 74 53 0 0 0.014410 0 0 ODZ4 26011 broad.mit.edu 37 11 78380168 78380168 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:78380168C>T uc001ozl.4 - 31 7685 c.7222G>A c.(7222-7224)Gat>Aat p.D2408N ODZ4_uc001ozk.4_Missense_Mutation_p.D633N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2408 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GTGAGTGGATCATAGAGGCCA 0.517000 12 8 0 0 0.003080 0 0 KRT1 3848 broad.mit.edu 37 12 53072416 53072416 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:53072416C>T uc001sau.1 - 1 775 c.716G>A c.(715-717)cGa>cAa p.R239Q KRT1_uc001sav.1_Missense_Mutation_p.R239Q NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 239 Coil 1B.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CACTCTCCTTCGGAGATTGTT 0.473000 70 50 0 0 0.014410 0 0 CSMD1 64478 broad.mit.edu 37 8 2823397 2823397 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:2823397G>A uc022aqr.1 - 58 9570 c.9180C>T c.(9178-9180)agC>agT p.S3060S CSMD1_uc011kwj.2_Silent_p.S2390S|CSMD1_uc010lrg.3_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3061 Sushi 24. 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) TACACTGATAGCTCACAGTCT 0.488000 11 6 0 0 0.001984 0 0 EFR3A 23167 broad.mit.edu 37 8 133008661 133008661 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:133008661C>T uc003yte.3 + 18 2278 c.2074C>T c.(2074-2076)Cga>Tga p.R692* NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 692 plasma membrane binding p.R692*(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) AGATGAAGATCGACTTTCTAG 0.308000 9 12 0 0 0.001855 0 0 COL4A1 1282 broad.mit.edu 37 13 110850904 110850904 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:110850904G>A uc001vqw.4 - 20 1317 c.1195C>T c.(1195-1197)Cct>Tct p.P399S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 399 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GATGTACCAGGAAATCCTCGG 0.607000 31 31 0 0 0.013726 0 0 OR5B17 219965 broad.mit.edu 37 11 58125899 58125899 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:58125899G>A uc010rke.2 - 0 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACAGATAGGAAATCAAGGT 0.373000 22 10 0 0 0.006214 0 0 SGIP1 84251 broad.mit.edu 37 1 67147816 67147816 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:67147816C>T uc001dcr.3 + 14 1296 c.1079C>T c.(1078-1080)cCc>cTc p.P360L SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P127L NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 360 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CCCACAGGCCCCCCAGGGCCT 0.572000 11 156 0 0 0.014410 0 0 DNAH7 56171 broad.mit.edu 37 2 196738347 196738347 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:196738347C>T uc002utj.4 - 38 6459 c.6358G>A c.(6358-6360)Gat>Aat p.D2120N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2120 AAA 3 (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 ATGGATTTATCACTAAACTCA 0.274000 45 30 0 0 0.012213 0 0 DRP2 1821 broad.mit.edu 37 X 100515075 100515075 + Missense_Mutation SNP C T T rs34562102 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:100515075C>T uc004egz.2 + 22 3035 c.2666C>T c.(2665-2667)tCg>tTg p.S889L DRP2_uc011mrh.1_Missense_Mutation_p.S811L NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 889 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 TCTGCAGGCTCGTCCCTAGCT 0.572000 63 64 0 0 0.014410 0 0 ACE 1636 broad.mit.edu 37 17 61574170 61574170 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:61574170A>G uc002jau.2 + 23 3549 c.3515A>G c.(3514-3516)aAg>aGg p.K1172R ACE_uc010wpj.2_Missense_Mutation_p.K557R|ACE_uc010ddv.2_Missense_Mutation_p.K399R|ACE_uc002jav.2_Missense_Mutation_p.K598R|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.K377R NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 1172 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACCGCCATGAAGCTGGGCTTC 0.627000 23 12 0 0 0.001855 0 0 SIPA1 6494 broad.mit.edu 37 11 65408595 65408595 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:65408595C>T uc001ofb.2 + 1 370 c.203C>T c.(202-204)cCc>cTc p.P68L SIPA1_uc010rom.1_Missense_Mutation_p.P68L|SIPA1_uc001ofd.2_Missense_Mutation_p.P68L NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 68 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 CCAGCCAGCCCCCGTGCCCGT 0.731000 12 14 0 0 0.002450 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973774 120973774 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:120973774T>G uc003eec.4 + 15 1614 c.1474T>G c.(1474-1476)Tca>Gca p.S492A STXBP5L_uc011bji.2_Missense_Mutation_p.S492A NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 492 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCTAAAAACTTCAAAAGTGTT 0.338000 12 27 0 0 0.008361 0 0 PREX2 80243 broad.mit.edu 37 8 69032465 69032465 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:69032465C>T uc003xxv.1 + 28 3566 c.3539C>T c.(3538-3540)gCt>gTt p.A1180V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1180 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAAGGGCAGGCTGTTGTGAGG 0.383000 62 57 0 0 0.014410 0 0 TLR3 7098 broad.mit.edu 37 4 187003870 187003870 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:187003870C>T uc003iyq.3 + 3 1131 c.1030C>T c.(1030-1032)Ccc>Tcc p.P344S TLR3_uc011ckz.2_Missense_Mutation_p.P67S|TLR3_uc003iyr.3_Missense_Mutation_p.P67S NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 344 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TGCCTCACTCCCCAAGATTGA 0.378000 39 18 0 0 0.007413 0 0 GPR123 84435 broad.mit.edu 37 10 134906629 134906629 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:134906629G>A uc001llw.3 + 9 1900 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K GPR123_uc001llx.4_Intron Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 488 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) GTGCAGGAAAGAAGGTTCCTC 0.607000 13 7 0 0 0.001984 0 0 MYH4 4622 broad.mit.edu 37 17 10348156 10348156 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10348156C>T uc002gmn.3 - 37 5638 c.5527G>A c.(5527-5529)Ggt>Agt p.G1843S AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1843 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 TTGCGAAGACCCTTGACAGCC 0.438000 76 54 0 0 0.014410 0 0 ABCB5 340273 broad.mit.edu 37 7 20725334 20725334 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:20725334G>A uc010kuh.3 + 15 2122 c.1885G>A c.(1885-1887)Gat>Aat p.D629N ABCB5_uc003suw.4_Missense_Mutation_p.D184N NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 184 ABC transporter 2. regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TAAAAAAGCTGATGAACAGAT 0.343000 36 31 0 0 0.003271 0 0 SPDYE3 441272 broad.mit.edu 37 7 99912223 99912223 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:99912223G>A uc022aij.1 + 5 1235 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA. 351 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTGTTTGGATGAATCTGATGA 0.602000 20 38 0 0 0.014410 0 0 PGR 5241 broad.mit.edu 37 11 100933403 100933403 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:100933403G>A uc001pgh.2 - 3 2730 c.1987C>T c.(1987-1989)Cca>Tca p.P663S PGR_uc001pgg.2_Missense_Mutation_p.P44S|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 663 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.V662I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTTTCATTTGGAACGCCCACT 0.428000 4 38 0 0 0.006999 0 0 ZFP112 7771 broad.mit.edu 37 19 44890960 44890960 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:44890960G>A uc010xxa.2 - 3 1511 c.1468C>T c.(1468-1470)Cca>Tca p.P490S ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.P483S NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 CATTTATATGGTTTTTCTCCA 0.383000 36 35 0 0 0.013726 0 0 KIAA0182 23199 broad.mit.edu 37 16 85704609 85704609 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:85704609C>T uc002fix.3 + 14 3498 c.3424C>T c.(3424-3426)Ctg>Ttg p.L1142L KIAA0182_uc002fiw.3_Silent_p.L1038L|KIAA0182_uc002fiy.3_Silent_p.L1069L|KIAA0182_uc002fiz.3_Silent_p.L284L|KIAA0182_uc010cho.3_Silent_p.L322L NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 1142 protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 AGAGCAAAATCTGGAGCGGCA 0.582000 40 36 0 0 0.004878 0 0 WISP1 8840 broad.mit.edu 37 8 134225127 134225127 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:134225127G>A uc003yub.3 + 1 196 c.90G>A c.(88-90)acG>acA p.T30T WISP1_uc003yuc.3_Silent_p.T30T|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Silent_p.T30T|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_5'Flank NM_003882 NP_003873 O95388 WISP1_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA. 30 Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CAGCCCCTACGACCATGGACT 0.657000 10 7 0 0 0.003080 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914515 94914515 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94914515G>A uc001ydd.1 - 1 657 c.597C>T c.(595-597)ttC>ttT p.F199F NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 199 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TGTCCTGGCTGAACTCCGGGA 0.463000 63 54 0 0 0.014410 0 0 STRN 6801 broad.mit.edu 37 2 37085036 37085036 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:37085036C>T uc002rpn.3 - 13 1809 c.1800G>A c.(1798-1800)gaG>gaA p.E600E STRN_uc010ezx.3_Silent_p.E563E NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 600 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding p.E600K(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) CTGGAGCAACCTCAGTTGTAT 0.393000 25 19 0 0 0.002780 0 0 MYCBP2 23077 broad.mit.edu 37 13 77642739 77642739 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:77642739G>A uc021rks.1 - 69 12399 c.12132C>T c.(12130-12132)ttC>ttT p.F4044F MYCBP2_uc010aev.3_Silent_p.F3410F|MYCBP2_uc001vke.3_Silent_p.F623F NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 4006 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GAAGCAGCGAGAAGAGATCCT 0.473000 22 19 0 0 0.006122 0 0 ASXL3 80816 broad.mit.edu 37 18 31324907 31324907 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:31324907G>A uc010dmg.1 + 11 5150 c.5095G>A c.(5095-5097)Gcc>Acc p.A1699T ASXL3_uc002kxq.2_Missense_Mutation_p.A1406T NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1699 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCAGAGGGAGCCTCTAGTGT 0.522000 45 42 0 0 0.013114 0 0 COPZ2 51226 broad.mit.edu 37 17 46109536 46109536 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:46109536C>T uc002imy.3 - 7 487 c.474G>A c.(472-474)gaG>gaA p.E158E NM_016429 NP_057513 Q9P299 COPZ2_HUMAN Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA. 160 intracellular protein transport|vesicle-mediated transport COPI vesicle coat|cis-Golgi network lung(3)|upper_aerodigestive_tract(1) 4 CATCCACAATCTCGTCCAGCA 0.577000 8 10 0 0 0.010729 0 0 ARID1B 57492 broad.mit.edu 37 6 157528792 157528792 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:157528792C>T uc003qqp.3 + 18 6478 c.6478C>T c.(6478-6480)Cag>Tag p.Q2160* ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q2173*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q2213* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 2160 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGCCCAGTACCAGCAGAGCCA 0.582000 5 23 0 0 0.002780 0 0 SLC38A10 124565 broad.mit.edu 37 17 79234139 79234139 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:79234139G>A uc002jzz.1 - 10 1562 c.1187C>T c.(1186-1188)tCt>tTt p.S396F SLC38A10_uc002jzy.1_Missense_Mutation_p.S314F|SLC38A10_uc002kab.3_Missense_Mutation_p.S396F NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 396 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTCGCTCACAGACAGTGTGGT 0.672000 7 9 0 0 0.008291 0 0 C2orf71 388939 broad.mit.edu 37 2 29295609 29295609 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:29295609C>T uc002rmt.2 - 0 1519 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 507 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGAGTTTTTTCCTGCCAGGCA 0.562000 67 51 0 0 0.014410 0 0 OCLN 100506658 broad.mit.edu 37 5 68805261 68805261 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:68805261G>A uc003jwu.3 + 2 780 c.344G>A c.(343-345)gGa>gAa p.G115E OCLN_uc003jwv.4_Missense_Mutation_p.G115E|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron NM_002538 NP_001192184 Q16625 OCLN_HUMAN Homo sapiens occludin (OCLN), transcript variant 1, mRNA. 115 Gly/Tyr-rich.|MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GGTAGCTACGGAAGtggctat 0.527000 55 43 0 0 0.007835 0 0 SPATA21 374955 broad.mit.edu 37 1 16736220 16736220 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:16736220C>T uc001ayn.3 - 5 946 c.463G>A c.(463-465)Gga>Aga p.G155R SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.G132R NM_198546 NP_940948 Q7Z572 SPT21_HUMAN Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA. 155 Pro-rich. calcium ion binding p.M154I(1) breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) ACCGGGGCTCCCATGGGGGCA 0.697000 9 10 0 0 0.006214 0 0 ZNF681 148213 broad.mit.edu 37 19 23927908 23927908 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:23927908C>T uc002nrk.4 - 3 586 c.444G>A c.(442-444)atG>atA p.M148I ZNF681_uc002nrl.4_Missense_Mutation_p.M79I|ZNF681_uc002nrj.4_Missense_Mutation_p.M79I NM_138286 NP_612143 Q96N22 ZN681_HUMAN Homo sapiens zinc finger protein 681 (ZNF681), mRNA. 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GAAAGATTTTCATATATTTAT 0.289000 15 7 0 0 0.003080 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6889985 6889985 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:6889985C>T uc002knc.3 + 12 4690 c.1479C>T c.(1477-1479)ttC>ttT p.F493F ARHGAP28_uc002kne.3_Silent_p.F386F|ARHGAP28_uc010wzi.2_Silent_p.F368F|ARHGAP28_uc002knf.3_Silent_p.F377F NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 368 signal transduction intracellular p.F545F(1)|p.F386F(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) ACCTTTTCTTCAGTAGAAGCA 0.408000 38 33 0 0 0.012213 0 0 SERPINE2 5270 broad.mit.edu 37 2 224866633 224866633 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:224866633G>A uc010zlr.1 - 1 158 c.21C>T c.(19-21)tcC>tcT p.S7S SERPINE2_uc002vnu.2_5'UTR|SERPINE2_uc002vnv.2_5'UTR NM_001136530 NP_001130000 P07093 GDN_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA. 0 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTTCCACCAAGGACGACCTGG 0.428000 24 34 0 0 0.012213 0 0 SMARCA2 6595 broad.mit.edu 37 9 2088560 2088560 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:2088560C>T uc003zhc.3 + 18 2929 c.2830C>T c.(2830-2832)Cca>Tca p.P944S SMARCA2_uc003zhd.3_Missense_Mutation_p.P944S|SMARCA2_uc010mha.3_Missense_Mutation_p.P877S NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 944 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GGTGTTAAGACCATTTTTACT 0.348000 112 92 0 0 0.014410 0 0 KIAA1045 23349 broad.mit.edu 37 9 34978046 34978046 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:34978046G>A uc003zvq.3 + 7 1319 c.1141G>A c.(1141-1143)Gtc>Atc p.V381I KIAA1045_uc003zvr.3_Missense_Mutation_p.V381I NM_015297 NP_056112 Q9UPV7 K1045_HUMAN Homo sapiens KIAA1045 (KIAA1045), mRNA. 381 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GCAAGAGAATGTCCTCTACAT 0.557000 59 59 0 0 0.014410 0 0 FGF5 2250 broad.mit.edu 37 4 81207563 81207563 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:81207563G>A uc003hmd.3 + 2 781 c.544G>A c.(544-546)Gaa>Aaa p.E182K FGF5_uc003hme.3_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA. 182 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 ACATAGAACTGAAAAAACAGG 0.458000 80 60 0 0 0.014410 0 0 RP1L1 94137 broad.mit.edu 37 8 10467103 10467103 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:10467103C>T uc003wtc.3 - 3 4734 c.4505G>A c.(4504-4506)aGg>aAg p.R1502K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1502 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) CGAAGAGCTCCTCTCTGCAGC 0.647000 18 23 0 0 0.002780 0 0 BIN2 51411 broad.mit.edu 37 12 51685437 51685437 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:51685437C>T uc001ryg.3 - 9 1505 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K BIN2_uc009zlz.3_Missense_Mutation_p.E453K|BIN2_uc001ryh.3_Missense_Mutation_p.E361K|BIN2_uc010sng.2_Missense_Mutation_p.E459K NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 485 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TGGATGTTTTCATTTTCTTTG 0.443000 18 15 0 0 0.004990 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221100 47221100 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:47221100G>A uc003oyv.3 - 3 1834 c.1401C>T c.(1399-1401)acC>acT p.T467T NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 467 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GGCCCCGGATGGTCCAGTGCT 0.597000 10 11 0 0 0.008291 0 0 ZNF679 168417 broad.mit.edu 37 7 63709527 63709527 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:63709527G>A uc003tsx.3 + 1 301 c.32G>A c.(31-33)cGa>cAa p.R11Q NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CCTGGAAGCCGAGAAATGGTG 0.572000 36 19 0 0 0.014323 0 0 URB2 9816 broad.mit.edu 37 1 229773816 229773816 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:229773816C>T uc001hts.1 + 3 3592 c.3456C>T c.(3454-3456)gcC>gcT p.A1152A URB2_uc009xfd.1_Silent_p.A1152A NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 1152 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CCCATGTTGCCCTCTACCAGG 0.562000 3 73 0 0 0.014410 0 0 CNGA3 1261 broad.mit.edu 37 2 99013074 99013074 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:99013074C>T uc010fij.3 + 7 1594 c.1453C>T c.(1453-1455)Cgc>Tgc p.R485C CNGA3_uc002syt.3_Missense_Mutation_p.R481C|CNGA3_uc002syu.3_Missense_Mutation_p.R463C Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 481 D -> V (in ACHM2). signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GAAGAAGGTTCGCATCTTCCA 0.567000 12 7 0 0 0.003080 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053432 5053432 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:5053432G>A uc002cye.2 + 10 1340 c.1160G>A c.(1159-1161)gGa>gAa p.G387E NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 387 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GACCTGGAGGGACTCAACATG 0.642000 32 29 0 0 0.003755 0 0 SPTA1 6708 broad.mit.edu 37 1 158645977 158645977 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:158645977G>A uc001fst.1 - 7 1265 c.1066C>T c.(1066-1068)Cgt>Tgt p.R356C NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 356 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCCAGGGCACGAATATGCTCC 0.483000 8 255 0 0 0.014410 0 0 CHST1 8534 broad.mit.edu 37 11 45672072 45672072 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:45672072G>A uc021qgn.1 - 0 402 c.402C>T c.(400-402)ttC>ttT p.F134F CHST1_uc001mys.2_Silent_p.F134F NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 134 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) AGTTCTCCAGGAAGTAGAGGT 0.697000 47 40 0 0 0.013114 0 0 OR1L3 26735 broad.mit.edu 37 9 125437934 125437934 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:125437934C>T uc011lzb.2 + 0 526 c.526C>T c.(526-528)Cat>Tat p.H176Y NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TGTTATCCATCATTTTTTTTG 0.463000 12 89 0 0 0.014410 0 0 SLC28A2 9153 broad.mit.edu 37 15 45554282 45554282 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:45554282C>T uc001zva.2 + 3 305 c.240C>T c.(238-240)atC>atT p.I80I NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 80 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TCAAGAAGATCCTGTTGGGCC 0.408000 77 50 0 0 0.014410 0 0 ZNF799 90576 broad.mit.edu 37 19 12502508 12502508 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:12502508G>A uc010dyt.3 - 3 908 c.704C>T c.(703-705)tCt>tTt p.S235F ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 ACTGTAAAAAGAAAAGGCTTT 0.383000 72 57 0 0 0.014410 0 0 PI4K2A 55361 broad.mit.edu 37 10 99359866 99359866 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:99359866G>A uc001kny.3 + 4 1005 c.646G>A c.(646-648)Gat>Aat p.D216N PI4K2A_uc001knx.2_3'UTR|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron NM_138413 NP_612422 Q9BTU6 P4K2A_HUMAN Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) CAGGAAGCAGGATTTTCAGGT 0.547000 79 58 0 0 0.014410 0 0 CASR 846 broad.mit.edu 37 3 122002959 122002959 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:122002959G>A uc003eew.4 + 6 2626 c.2188G>A c.(2188-2190)Ggg>Agg p.G730R CASR_uc003eev.4_Missense_Mutation_p.G720R NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 720 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.L730L(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAAGTGGTGGGGGCTCAACCT 0.567000 11 16 0 0 0.004007 0 0 SRL 6345 broad.mit.edu 37 16 4253226 4253226 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:4253226G>A uc002cvz.4 - 2 213 c.200C>T c.(199-201)tCc>tTc p.S67F SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 526 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 AGGCTTGATGGATGAGTGGTA 0.567000 44 29 0 0 0.012213 0 0 NPTX2 4885 broad.mit.edu 37 7 98256594 98256594 + Missense_Mutation SNP G A A rs141241960 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:98256594G>A uc003upl.2 + 3 1183 c.1006G>A c.(1006-1008)Gag>Aag p.E336K NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 336 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.E336K(2) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGGCACTGGGGAGAACCTGGC 0.642000 32 10 0 0 0.010729 0 0 HTRA3 94031 broad.mit.edu 37 4 8294051 8294051 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:8294051G>A uc003gla.3 + 4 1114 c.907G>A c.(907-909)Ggg>Agg p.G303R HTRA3_uc003gkz.3_Missense_Mutation_p.G303R NM_053044 NP_444272 P83110 HTRA3_HUMAN Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA. 303 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity p.Y302*(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 CTTGCAGTACGGGAACTCCGG 0.572000 31 15 0 0 0.002450 0 0 RHOT1 55288 broad.mit.edu 37 17 30533929 30533929 + Splice_Site SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:30533929T>C uc002hgw.3 + 17 1656 c.1417_splice c.e17-1 p.L473_splice RHOT1_uc002hgy.3_Splice_Site_p.L473_splice|RHOT1_uc002hgz.3_Splice_Site_p.L473_splice|RHOT1_uc002hha.3_Splice_Site_p.L346_splice|RHOT1_uc010csv.3_Splice_Site|RHOT1_uc002hgx.3_Splice_Site_p.L346_splice|RHOT1_uc010wby.2_Splice_Site_p.L473_splice|RHOT1_uc002hhb.3_Splice_Site_p.L452_splice|RHOT1_uc002hgv.3_Splice_Site_p.L473_splice NM_001033568 NP_001028740 Q8IXI2 MIRO1_HUMAN Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA. 473 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane GTP binding|GTPase activity|calcium ion binding|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CTTTTACAAGTTGCATGATAT 0.303000 17 14 0 0 0.001855 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32549447 32549447 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32549447C>T uc003obp.4 - 2 633 c.539G>A c.(538-540)gGa>gAa p.G180E HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Missense_Mutation_p.G10E|HLA-DRB5_uc011dqc.1_Missense_Mutation_p.G10E NM_002124 NP_002115 Q30154 DRB5_HUMAN Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA. 180 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 GGTCCAGTCTCCATTCTGGAT 0.552000 143 12 0 0 0.009718 0 0 TLL1 7092 broad.mit.edu 37 4 166915560 166915560 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:166915560G>A uc003irh.2 + 3 1036 c.389G>A c.(388-390)gGa>gAa p.G130E TLL1_uc021xud.1_Missense_Mutation_p.G130E|TLL1_uc011cjn.2_Missense_Mutation_p.G130E|TLL1_uc011cjo.2_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 130 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACAGTTAAGGGAAAAGTACCT 0.418000 20 24 0 0 0.006320 0 0 ZNF343 79175 broad.mit.edu 37 20 2464164 2464164 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:2464164A>G uc002wge.1 - 5 1931 c.1443T>C c.(1441-1443)ctT>ctC p.L481L ZNF343_uc010gao.1_Silent_p.L481L|ZNF343_uc002wgd.1_Silent_p.L391L NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN Homo sapiens zinc finger protein 343 (ZNF343), mRNA. 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 TCTGGTGGACAAGGAGGAGTG 0.527000 44 23 0 0 0.002780 0 0 TAF8 129685 broad.mit.edu 37 6 42036228 42036228 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:42036228C>T uc003ort.3 + 6 692 c.663C>T c.(661-663)atC>atT p.I221I TAF8_uc003ors.3_Silent_p.I221I|TAF8_uc003oru.1_Silent_p.I221I|TAF8_uc003orv.1_Silent_p.I221I|TAF8_uc011dun.2_Intron Q7Z7C8 TAF8_HUMAN Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA. 221 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) CTTTCACCATCCCCTACCTGA 0.522000 269 107 0 0 0.014410 0 0 ALPK1 80216 broad.mit.edu 37 4 113352475 113352475 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:113352475C>T uc003ian.4 + 10 1999 c.1772C>T c.(1771-1773)tCc>tTc p.S591F ALPK1_uc003iap.4_Missense_Mutation_p.S591F|ALPK1_uc011cfx.2_Missense_Mutation_p.S513F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.S419F NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 591 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GGGTTTAGTTCCTCTGCAAGC 0.512000 34 36 0 0 0.003755 0 0 FAM135B 51059 broad.mit.edu 37 8 139145022 139145022 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:139145022C>T uc003yuy.3 - 19 4206 c.4035G>A c.(4033-4035)atG>atA p.M1345I FAM135B_uc003yux.3_Missense_Mutation_p.M1246I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1345 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTTGTTGATCATTTCTGCAT 0.502000 HNSCC(54;0.14) 94 67 0 0 0.014410 0 0 NLRC3 197358 broad.mit.edu 37 16 3602201 3602201 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3602201C>T uc010btn.3 - 10 2754 c.2343G>A c.(2341-2343)gaG>gaA p.E781E NLRC3_uc010bto.1_Silent_p.E47E NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 782 I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCACATGAGCTCTTTCAGAC 0.542000 26 14 0 0 0.003163 0 0 PJA1 64219 broad.mit.edu 37 X 68381536 68381536 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:68381536C>T uc022byl.1 - 0 1546 c.1546G>A c.(1546-1548)Gga>Aga p.G516R PJA1_uc004dxg.3_Missense_Mutation_p.G328R|PJA1_uc004dxh.3_Missense_Mutation_p.G516R|PJA1_uc004dxi.3_Missense_Mutation_p.G461R|PJA1_uc011mpi.2_Missense_Mutation_p.G234R NM_001032396 NP_001027568 Q8NG27 PJA1_HUMAN Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA. 516 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 TCTGCAAATCCATCAAAGAGG 0.502000 56 27 0 0 0.005443 0 0 USH2A 7399 broad.mit.edu 37 1 216497555 216497555 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:216497555C>T uc001hku.1 - 6 1670 c.1283G>A c.(1282-1284)gGa>gAa p.G428E USH2A_uc001hkv.3_Missense_Mutation_p.G428E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 428 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCCAAATCTCCATTGTTTTT 0.318000 HNSCC(13;0.011) 1 57 0 0 0.014410 0 0 IL17RD 54756 broad.mit.edu 37 3 57138405 57138405 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:57138405G>A uc003dil.3 - 7 867 c.778C>T c.(778-780)Ctt>Ttt p.L260F IL17RD_uc003dik.3_Missense_Mutation_p.L236F|IL17RD_uc010hna.3_Missense_Mutation_p.L116F|IL17RD_uc011bex.1_Missense_Mutation_p.L116F NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 260 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) ACATTTTGAAGGAGGCAGCTG 0.413000 10 7 0 0 0.004482 0 0 RCAN2 10231 broad.mit.edu 37 2 174085957 174085957 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:174085957T>A uc002uhy.3 + 11 1267 c.1067T>A c.(1066-1068)aTg>aAg p.M356K RCAN2_uc010zei.2_Missense_Mutation_p.M255K|RCAN2_uc002uhz.3_Intron|MLK7-AS1_uc002uib.3_Intron NM_133646 NP_598407 Q14206 RCAN2_HUMAN Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 2, mRNA. 0 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 AGTGCAGAGATGTCATGTCAG 0.468000 35 29 0 0 0.005443 0 0 GRIP1 23426 broad.mit.edu 37 12 66771023 66771023 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:66771023C>T uc001stk.3 - 19 2749 c.2508G>A c.(2506-2508)gaG>gaA p.E836E GRIP1_uc010sta.1_Silent_p.E780E|GRIP1_uc001stj.3_Silent_p.E618E|GRIP1_uc001stm.3_Silent_p.E836E|GRIP1_uc001stl.1_Silent_p.E728E NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 888 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ACCAGAAGTTCTCCTCTTGTT 0.458000 91 76 0 0 0.014410 0 0 TMEM151A 256472 broad.mit.edu 37 11 66063101 66063101 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:66063101G>A uc001ohl.3 + 1 1496 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R NM_153266 NP_694998 Q8N4L1 T151A_HUMAN Homo sapiens transmembrane protein 151A (TMEM151A), mRNA. 462 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CGGCTGCCAGGGGGATGGGCA 0.662000 2 3 0 0 0.004672 0 0 ITGB7 3695 broad.mit.edu 37 12 53594188 53594188 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:53594188G>A uc009zmv.3 - 1 111 c.40C>T c.(40-42)Ctg>Ttg p.L14L ITGB7_uc001scc.3_Silent_p.L14L|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Silent_p.L14L NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 14 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCTCTGCTCAGGACCAGCAGC 0.552000 15 15 0 0 0.004990 0 0 RP2 6102 broad.mit.edu 37 X 46713160 46713160 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:46713160C>T uc004dgw.4 + 1 541 c.352C>T c.(352-354)Cgt>Tgt p.R118C NM_006915 NP_008846 O75695 XRP2_HUMAN Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA. 118 C-CAP/cofactor C-like. R -> C (in RP2).|R -> H (in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location).|R -> L (in RP2; dbSNP:rs28933687). CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding p.R118C(2) NS(1)|large_intestine(4)|lung(5)|stomach(1) 11 CCAACAATTTCGTGTGCGAGA 0.418000 64 54 0 0 0.014410 0 0 JHDM1D 80853 broad.mit.edu 37 7 139818920 139818920 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:139818920G>A uc003vvm.3 - 8 1243 c.1239C>T c.(1237-1239)acC>acT p.T413T JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 413 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TACCTTTCAGGGTTTCCAGCA 0.353000 181 77 0 0 0.014410 0 0 BAIAP3 8938 broad.mit.edu 37 16 1391445 1391445 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:1391445T>G uc002clk.2 + 7 949 c.791T>G c.(790-792)gTg>gGg p.V264G BAIAP3_uc010uuz.2_Missense_Mutation_p.V229G|BAIAP3_uc010uva.2_Missense_Mutation_p.V201G|BAIAP3_uc021tag.1_Missense_Mutation_p.V206G|BAIAP3_uc002clj.3_Missense_Mutation_p.V246G|BAIAP3_uc010uvb.2_Missense_Mutation_p.V281G|BAIAP3_uc010uvc.1_Missense_Mutation_p.V229G NM_003933 NP_001186026 O94812 BAIP3_HUMAN Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA. 264 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GTCACCGAGGTGAAGAGCAGC 0.682000 44 30 0 0 0.004289 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299834 125299834 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:125299834G>A uc004euk.2 - 0 247 c.74C>T c.(73-75)tCg>tTg p.S25L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA. 25 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TAAACCCTGCGACGACGAGCT 0.697000 14 30 0 0 0.010818 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791299 15791299 + Silent SNP G A A rs141478890 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:15791299G>A uc002nbl.3 + 4 614 c.495G>A c.(493-495)acG>acA p.T165T CYP4F12_uc010xoo.2_Silent_p.T165T|CYP4F12_uc010xop.2_3'UTR NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. p.T165T(2) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCTATATAACGATCTTCAACA 0.537000 32 14 0 0 0.003163 0 0 GRB10 2887 broad.mit.edu 37 7 50671703 50671703 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:50671703G>A uc003tpi.2 - 13 1582 c.1536C>T c.(1534-1536)ctC>ctT p.L512L GRB10_uc003tph.3_Silent_p.L454L|GRB10_uc003tpj.2_Silent_p.L466L|GRB10_uc003tpk.2_Silent_p.L512L|GRB10_uc010kzb.2_Silent_p.L454L|GRB10_uc003tpl.2_Silent_p.L506L|GRB10_uc003tpm.2_Silent_p.L454L NM_005311 NP_005302 Q13322 GRB10_HUMAN Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA. 512 SH2. insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane SH3/SH2 adaptor activity|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) ACCCATCCACGAGCCCTTGCT 0.507000 Russell-Silver syndrome 92 137 0 0 0.014410 0 0 NLRP11 204801 broad.mit.edu 37 19 56321635 56321635 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56321635C>T uc010ygf.2 - 4 1052 c.341G>A c.(340-342)gGa>gAa p.G114E NLRP11_uc002qlz.3_Missense_Mutation_p.G15E|NLRP11_uc002qmb.3_Missense_Mutation_p.G15E|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 114 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATGAAATTTTCCAAAAGTGTG 0.383000 19 16 0 0 0.004007 0 0 POLR1B 84172 broad.mit.edu 37 2 113330160 113330160 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:113330160C>T uc002thw.2 + 12 2676 c.2096C>T c.(2095-2097)cCa>cTa p.P699L POLR1B_uc010fkn.2_Missense_Mutation_p.P643L|POLR1B_uc002thx.2_Missense_Mutation_p.P560L|POLR1B_uc010fko.2_Missense_Mutation_p.P516L|POLR1B_uc010fkp.2_Missense_Mutation_p.P138L|POLR1B_uc002thy.2_Missense_Mutation_p.P560L|POLR1B_uc010yxo.1_Missense_Mutation_p.P476L NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA. 699 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 ATGGGCTTTCCACTTCTCACT 0.408000 36 30 0 0 0.003271 0 0 abParts 0 broad.mit.edu 37 14 106494244 106494244 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:106494244G>A uc021ser.1 - 2337 c.41408C>T Parts of antibodies, mostly variable regions. GCTCTTCAGAGATGGGCTGTA 0.527000 45 28 0 0 0.006320 0 0 TMEFF2 23671 broad.mit.edu 37 2 192815113 192815113 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:192815113C>T uc002utc.3 - 9 1443 c.1049G>A c.(1048-1050)aGa>aAa p.R350K NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA. 350 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TCTGTGAATTCTGTTGCTTCT 0.423000 39 48 0 0 0.014410 0 0 MYH2 4620 broad.mit.edu 37 17 10432094 10432094 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10432094C>T uc010coi.3 - 26 3785 c.3657G>A c.(3655-3657)gtG>gtA p.V1219V AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V1219V|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1219 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.V1219A(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTTCTGCTTCACTCGCTGCA 0.512000 53 56 0 0 0.014410 0 0 XIRP1 165904 broad.mit.edu 37 3 39226238 39226238 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:39226238C>T uc003cjk.2 - 1 4928 c.4699G>A c.(4699-4701)Gag>Aag p.E1567K XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.E250K|XIRP1_uc021wvz.1_Missense_Mutation_p.E1567K NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1567 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCACTGGCCTCAGGCTGGAGG 0.577000 57 36 0 0 0.003271 0 0 ELFN2 114794 broad.mit.edu 37 22 37771307 37771307 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:37771307C>T uc003asq.4 - 2 1054 c.268G>A c.(268-270)Gag>Aag p.E90K ELFN2_uc021wph.1_Missense_Mutation_p.E90K NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 90 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TAGGAGATCTCGTTCTTGGTG 0.597000 19 30 0 0 0.008361 0 0 OR7D4 125958 broad.mit.edu 37 19 9324610 9324610 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9324610C>T uc002mla.2 - 0 938 c.904G>A c.(904-906)Gaa>Aaa p.E302K NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGGAGTCTTTCCAGGGCCCCC 0.552000 22 33 0 0 0.005524 0 0 ABCC8 6833 broad.mit.edu 37 11 17483175 17483175 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:17483175G>A uc001mnc.3 - 4 903 c.777C>T c.(775-777)gcC>gcT p.A259A ABCC8_uc010rcy.1_Silent_p.A259A NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 259 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGTTGGTGAGGGCCCTCATGG 0.587000 192 169 0 0 0.014410 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553447 140553447 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140553447G>A uc003lit.3 + 0 1205 c.1031G>A c.(1030-1032)cGa>cAa p.R344Q NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 344 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACGATAATCGACCCGAGCTG 0.458000 32 16 0 0 0.004007 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575762 120575762 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:120575762G>A uc001txo.3 - 47 6349 c.6336C>T c.(6334-6336)atC>atT p.I2112I NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 2112 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGCTGGGAGGATCACGCCAA 0.602000 15 12 0 0 0.002450 0 0 ATP9A 10079 broad.mit.edu 37 20 50221426 50221426 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:50221426G>A uc002xwg.1 - 26 2937 c.2937C>T c.(2935-2937)ctC>ctT p.L979L ATP9A_uc010gih.1_Silent_p.L843L|ATP9A_uc002xwf.1_Silent_p.L151L NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 979 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCACTGTCATGAGCCAGTGCC 0.587000 12 13 0 0 0.013537 0 0 SLC6A12 6539 broad.mit.edu 37 12 309836 309836 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:309836C>T uc001qhz.3 - 7 1356 c.692G>A c.(691-693)gGg>gAg p.G231E SLC6A12_uc001qhy.3_5'Flank|SLC6A12_uc001qia.3_Missense_Mutation_p.G231E|SLC6A12_uc001qib.3_Missense_Mutation_p.G231E|SLC6A12_uc009zdh.2_Missense_Mutation_p.G231E|SLC6A12_uc009zdi.1_Non-coding_Transcript NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 231 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GGACTTGACCCCCTTCCAGAT 0.627000 61 43 0 0 0.011902 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733044 56733044 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56733044C>T uc002qmq.3 - 4 1557 c.1391G>A c.(1390-1392)gGa>gAa p.G464E ZSCAN5A_uc010ygi.2_Missense_Mutation_p.G347E|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.G464E|ZSCAN5A_uc002qms.1_Missense_Mutation_p.G463E NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 464 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GGGTTTCTCTCCGGAGTGGAT 0.498000 25 28 0 0 0.009535 0 0 PM20D1 148811 broad.mit.edu 37 1 205813229 205813229 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:205813229C>T uc001hdj.3 - 4 769 c.693G>A c.(691-693)aaG>aaA p.K231K PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 231 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) CGATGGGCTTCTTGAAGTTAG 0.537000 5 193 0 0 0.014410 0 0 TAP2 6891 broad.mit.edu 37 6 32782215 32782215 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32782215C>T uc011dqf.1 - 13 2468 c.2346G>A c.(2344-2346)agG>agA p.R782R TAP2_uc003oca.3_Silent_p.R175R|TAP2_uc011dqg.1_Silent_p.R175R NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding AGTCTCCATTCCTGATAGGGC 0.527000 100 39 0 0 0.009718 0 0 RP1L1 94137 broad.mit.edu 37 8 10464818 10464818 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:10464818C>T uc003wtc.3 - 3 7019 c.6790G>A c.(6790-6792)Gag>Aag p.E2264K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 2264 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) TCAGAAGCCTCCTCAGATTGG 0.612000 47 45 0 0 0.014410 0 0 VRTN 55237 broad.mit.edu 37 14 74825517 74825517 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:74825517C>T uc021rwl.1 + 0 2031 c.2031C>T c.(2029-2031)ctC>ctT p.L677L VRTN_uc001xpw.4_Silent_p.L677L NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 677 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TCAGTGCCCTCTTTCCCCTCA 0.562000 29 24 0 0 0.007291 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972566 110972566 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:110972566G>A uc003hzz.3 - 4 852 c.726C>T c.(724-726)taC>taT p.Y242Y ELOVL6_uc003iaa.3_Silent_p.Y242Y NM_001130721 NP_076995 Q9H5J4 ELOV6_HUMAN Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA. 242 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) AGAGCACAAGGTAGCTGAGGT 0.473000 61 46 0 0 0.014410 0 0 FAAH2 158584 broad.mit.edu 37 X 57405126 57405126 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:57405126C>T uc004dvc.3 + 5 934 c.785C>T c.(784-786)gCc>gTc p.A262V NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 262 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GCTGTGGGAGCCCAGGAGTTG 0.512000 HNSCC(52;0.14) 41 38 0 0 0.006230 0 0 NME8 51314 broad.mit.edu 37 7 37901644 37901644 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:37901644C>T uc003tfn.3 + 6 657 c.285C>T c.(283-285)atC>atT p.I95I NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 95 Thioredoxin. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GCAAAATTATCGAAAAGATTC 0.388000 29 40 0 0 0.013114 0 0 CEP85 64793 broad.mit.edu 37 1 26597588 26597588 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:26597588C>T uc001bls.1 + 9 1864 c.1733C>T c.(1732-1734)tCg>tTg p.S578L CEP85_uc001blr.3_Missense_Mutation_p.S578L|CEP85_uc010ofa.1_Missense_Mutation_p.S527L|CEP85_uc001blt.1_Missense_Mutation_p.S10L NM_022778 NP_073615 Q6P2H3 CEP85_HUMAN Homo sapiens centrosomal protein 85kDa (CEP85), mRNA. 578 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 CGATACGATTCGCTCCAAAAG 0.507000 5 60 0 0 0.014410 0 0 MAN2B2 23324 broad.mit.edu 37 4 6590804 6590804 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:6590804C>T uc003gjf.1 + 4 633 c.597C>T c.(595-597)tcC>tcT p.S199S MAN2B2_uc003gje.1_Silent_p.S199S|MAN2B2_uc011bwf.1_Silent_p.S199S NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA. 199 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GGTCCCCATCCCTCTCAGAGC 0.612000 26 24 0 0 0.009535 0 0 FLT3 2322 broad.mit.edu 37 13 28589385 28589385 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:28589385G>A uc001urw.3 - 21 2744 c.2662C>T c.(2662-2664)Cct>Tct p.P888S FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P847S NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 888 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G885fs*4(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGGGTAAGGATTCACACCT 0.353000 """Mis, O""" """AML, ALL""" 9 6 0 0 0.001984 0 0 EPHA6 285220 broad.mit.edu 37 3 97356795 97356795 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:97356795G>A uc010how.1 + 13 2696 c.2653G>A c.(2653-2655)Gat>Aat p.D885N EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.D277N|EPHA6_uc003drr.4_Missense_Mutation_p.D277N|EPHA6_uc003drt.3_Missense_Mutation_p.D277N|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 790 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GTATCTTTCTGATATGGGTTA 0.453000 85 73 0 0 0.014410 0 0 PRSS38 339501 broad.mit.edu 37 1 228003849 228003849 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:228003849G>A uc001hrh.3 + 1 207 c.207G>A c.(205-207)agG>agA p.R69R NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CGCCCGAGAGGAAGTGGCCGT 0.667000 6 145 0 0 0.014410 0 0 FMN2 56776 broad.mit.edu 37 1 240371124 240371124 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:240371124C>T uc010pye.2 + 5 3249 c.3024C>T c.(3022-3024)ccC>ccT p.P1008P FMN2_uc010pyd.2_Silent_p.P1004P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1004 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCACTTCCCGGAGCGGGCA 0.721000 37 18 0 0 0.004656 0 0 NEB 4703 broad.mit.edu 37 2 152512466 152512466 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:152512466C>T uc021vrb.1 - 47 6596 c.6567G>A c.(6565-6567)gtG>gtA p.V2189V NEB_uc002txu.3_Silent_p.V2189V|NEB_uc021vrc.1_Silent_p.V2189V|NEB_uc010fnx.3_Silent_p.V2189V|NEB_uc021vrd.1_Silent_p.V2189V NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2189 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.V2189E(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGGCCTTCTCCACTTCCAGAG 0.428000 41 28 0 0 0.010818 0 0 SCN1A 6323 broad.mit.edu 37 2 166848847 166848847 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:166848847G>A uc002udo.4 - 27 5165 c.4938C>T c.(4936-4938)atC>atT p.I1646I SCN1A_uc010fpk.3_Silent_p.I1618I|SCN1A_uc021vsb.1_Silent_p.I1635I NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1646 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCAGACGTAGGATTCGGCCAA 0.478000 66 46 0 0 0.014410 0 0 ARMC4 55130 broad.mit.edu 37 10 28196667 28196667 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28196667G>A uc009xky.3 - 16 2633 c.2535C>T c.(2533-2535)tcC>tcT p.S845S ARMC4_uc010qds.2_Silent_p.S370S|ARMC4_uc010qdt.2_Silent_p.S537S|ARMC4_uc001itz.3_Silent_p.S845S NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 845 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTTTCAGCAGGGACCACAACA 0.433000 26 21 0 0 0.004656 0 0 COL7A1 1294 broad.mit.edu 37 3 48607608 48607608 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:48607608C>T uc003ctz.2 - 97 7445 c.7444G>A c.(7444-7446)Gaa>Aaa p.E2482K NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2482 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGGCCATCTTCACCCTGGATG 0.582000 25 19 0 0 0.010504 0 0 ZBTB11 27107 broad.mit.edu 37 3 101384430 101384430 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:101384430C>T uc003dve.4 - 3 1231 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q NM_014415 NP_055230 O95625 ZBT11_HUMAN Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA. 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 ATTCTGTACTCGTAAGTCCTG 0.428000 41 32 0 0 0.009535 0 0 ITGB5 3693 broad.mit.edu 37 3 124538681 124538681 + Splice_Site SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:124538681C>A uc003eho.3 - 7 1240 c.943_splice c.e7-1 p.D315_splice ITGB5_uc010hrx.3_5'Flank NM_002213 NP_002204 P18084 ITB5_HUMAN Homo sapiens integrin, beta 5 (ITGB5), mRNA. 315 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) GATGGATAGTCCTAGGGCCAA 0.468000 65 37 2.40579e-17 3.26389e-17 0.006230 1 0 KLHL18 23276 broad.mit.edu 37 3 47385374 47385374 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:47385374C>T uc003crd.3 + 9 1794 c.1668C>T c.(1666-1668)ccC>ccT p.P556P KLHL18_uc011bav.2_Silent_p.P444P NM_025010 NP_079286 O94889 KLH18_HUMAN Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA. 556 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TCATGGCCCCCATGGCGTGCC 0.597000 56 54 0 0 0.014410 0 0 CDH7 1005 broad.mit.edu 37 18 63481762 63481762 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:63481762C>T uc002lkb.3 + 3 973 c.547C>T c.(547-549)Cct>Tct p.P183S CDH7_uc002ljz.3_Missense_Mutation_p.P183S|CDH7_uc002lka.3_Missense_Mutation_p.P183S NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 183 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TGCTGATGATCCTACATATGG 0.428000 53 39 0 0 0.011902 0 0 SPINK5 11005 broad.mit.edu 37 5 147469114 147469114 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:147469114G>A uc003lox.2 + 6 605 c.532G>A c.(532-534)Gaa>Aaa p.E178K SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.E150K|SPINK5_uc010jgr.2_Missense_Mutation_p.E159K|SPINK5_uc003low.2_Missense_Mutation_p.E178K|SPINK5_uc003loy.2_Missense_Mutation_p.E178K NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 178 Kazal-like 3. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity p.R177R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCACAAGGGAAAATGATCC 0.448000 52 33 0 0 0.003271 0 0 TLR4 7099 broad.mit.edu 37 9 120476810 120476810 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:120476810C>T uc004bjz.3 + 2 2695 c.2404C>T c.(2404-2406)Ctg>Ttg p.L802L TLR4_uc004bkb.3_Silent_p.L602L|TLR4_uc004bka.3_Silent_p.L762L NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 802 TIR. I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGACAGTGTCCTGGGGCGGCA 0.552000 8 48 0 0 0.014410 0 0 ADCY1 107 broad.mit.edu 37 7 45717493 45717493 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:45717493A>C uc003tne.4 + 8 1649 c.1631A>C c.(1630-1632)gAa>gCa p.E544A NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 544 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACAGCCTCGGAAAAACTCAGA 0.498000 118 52 0 0 0.014410 0 0 ENOX2 10495 broad.mit.edu 37 X 129790564 129790564 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:129790564C>T uc004evw.3 - 10 1625 c.1207G>A c.(1207-1209)Gag>Aag p.E403K ENOX2_uc004evx.3_Missense_Mutation_p.E374K|ENOX2_uc004evy.3_Missense_Mutation_p.E374K|ENOX2_uc004evv.3_Missense_Mutation_p.E230K NM_182314 NP_006366 Q16206 ENOX2_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA. 403 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CCTGATTCCTCAGTTTCTTTT 0.318000 68 41 0 0 0.005524 0 0 CDHR1 92211 broad.mit.edu 37 10 85968030 85968030 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:85968030G>A uc001kcv.3 + 10 1169 c.1064G>A c.(1063-1065)gGa>gAa p.G355E CDHR1_uc001kcw.3_Missense_Mutation_p.G355E|CDHR1_uc009xst.3_Missense_Mutation_p.G114E NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA. 355 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 ACATTCTATGGAGAGAGCGGA 0.592000 22 17 0 0 0.007413 0 0 OPN4 94233 broad.mit.edu 37 10 88417789 88417789 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:88417789G>A uc010qmk.1 + 4 551 c.324_splice c.e4-1 p.Q108_splice OPN4_uc001kdp.3_Splice_Site_p.Q108_splice|OPN4_uc001kdq.3_Splice_Site_p.R97_splice|OPN4_uc009xsx.1_5'Flank NM_001030015 NP_001025186 Q9UHM6 OPN4_HUMAN Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA. 97 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 ATCCTCCCAGGAGCAGAAGCC 0.572000 23 25 0 0 0.003330 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182346 140182346 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140182346C>T uc003lhf.2 + 0 1564 c.1564C>T c.(1564-1566)Ccg>Tcg p.P522S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P522S NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 536 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCTGCAGCCGCTGGACCA 0.682000 83 68 0 0 0.014410 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111474 7111474 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:7111474G>A uc001mfc.2 + 0 1310 c.1123G>A c.(1123-1125)Ggc>Agc p.G375S NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 375 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGTGCCCAGGGGCGGAGGCCG 0.607000 4 4 0 0 0.000602 0 0 NDST1 3340 broad.mit.edu 37 5 149929308 149929308 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:149929308C>T uc003lsk.4 + 12 2887 c.2385C>T c.(2383-2385)ttC>ttT p.F795F NDST1_uc011dcj.2_Silent_p.F738F NM_001543 NP_001534 P52848 NDST1_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA. 795 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCAGAAGTTCCTTGGGGTGA 0.512000 21 20 0 0 0.003330 0 0 ASIC2 40 broad.mit.edu 37 17 31415911 31415911 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:31415911G>A uc002hht.3 - 2 1830 c.957C>T c.(955-957)ttC>ttT p.F319F ASIC2_uc002hhu.3_Silent_p.F268F NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 268 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CAAAGGTCTGGAACCCTGGAG 0.577000 12 14 0 0 0.004007 0 0 RAB3C 115827 broad.mit.edu 37 5 58021869 58021869 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:58021869C>T uc003jrp.3 + 2 390 c.293C>T c.(292-294)gCc>gTc p.A98V NM_138453 NP_612462 Q96E17 RAB3C_HUMAN Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA. 98 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) ATCACCACAGCCTATTATCGT 0.358000 49 37 0 0 0.007835 0 0 WWC3 55841 broad.mit.edu 37 X 10084537 10084537 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:10084537C>T uc004csx.4 + 9 1252 c.1054C>T c.(1054-1056)Cag>Tag p.Q352* WWC3_uc010nds.3_Nonsense_Mutation_p.Q16*|WWC3_uc010ndt.3_Non-coding_Transcript NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN Homo sapiens WWC family member 3 (WWC3), mRNA. 352 Ser-rich. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CCTCCAGTCCCAGTTAAAAAG 0.418000 67 54 0 0 0.014410 0 0 SSPO 23145 broad.mit.edu 37 7 149474858 149474858 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:149474858C>T uc010lpk.3 + 4 657 c.657C>T c.(655-657)taC>taT p.Y219Y SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 219 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTGCACCTACCTGCTGGCGG 0.682000 6 8 0 0 0.004482 0 0 DSP 1832 broad.mit.edu 37 6 7583110 7583110 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:7583110C>T uc003mxp.1 + 23 5894 c.5615C>T c.(5614-5616)tCc>tTc p.S1872F DSP_uc003mxq.1_Missense_Mutation_p.S1273F|DSP_uc021yle.1_Missense_Mutation_p.S1429F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1872 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACTCAATATTCCCGCAAGGAG 0.453000 57 40 0 0 0.005524 0 0 C7orf62 219557 broad.mit.edu 37 7 88423732 88423732 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:88423732G>A uc003ujv.3 - 1 707 c.525C>T c.(523-525)ctC>ctT p.L175L ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.L175L NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA. 175 p.L175fs*15(1) NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 GAGTTTGTGTGAGAAAATCTG 0.423000 95 44 0 0 0.014410 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751401 26751401 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:26751401C>T uc003cdp.3 + 1 827 c.238C>T c.(238-240)Ccc>Tcc p.P80S LRRC3B_uc003cdq.3_Missense_Mutation_p.P80S|LRRC3B_uc021wuj.1_Missense_Mutation_p.P80S NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 80 integral to membrane p.P80P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 CACATCTATTCCCAATGAAAT 0.403000 27 17 0 0 0.004007 0 0 SMARCB1 6598 broad.mit.edu 37 22 24167437 24167437 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:24167437C>T uc002zyd.3 + 6 1055 c.848C>T c.(847-849)tCc>tTc p.S283F SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Missense_Mutation_p.S274F|SMARCB1_uc002zyc.3_Missense_Mutation_p.S265F NM_001007468 NP_001007469 Q12824 SNF5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA. 274 2 X approximate tandem repeats. DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm p53 binding p.?(6)|p.M283fs*77(1)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) GGAAACATTTCCCTGGTGGAC 0.572000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 41 24 0 0 0.008361 0 0 CUX2 23316 broad.mit.edu 37 12 111785488 111785489 + Missense_Mutation DNP GA AT AT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:111785488_111785489GA>AT uc001tsa.2 + 21 3974_3975 c.3820_3821GA>AT c.(3820-3822)gaa>ATa p.E1274I NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1274 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AACCGTGAAGGAACTGGAGCTT 0.619000 21 11 0 0 0.004672 0 0 FTMT 94033 broad.mit.edu 37 5 121188309 121188309 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:121188309G>A uc003kss.3 + 0 660 c.651G>A c.(649-651)aaG>aaA p.K217K NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA. 217 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) ACTTAGTGAAGATGGGGGCCC 0.507000 86 63 0 0 0.014410 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688826 26688826 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:26688826C>T uc003acb.3 + 1 745 c.549C>T c.(547-549)ccC>ccT p.P183P SEZ6L_uc003acd.3_Silent_p.P183P|SEZ6L_uc011akd.2_Silent_p.P183P|SEZ6L_uc003ace.3_Silent_p.P183P|SEZ6L_uc011akc.2_Silent_p.P183P|SEZ6L_uc003acc.3_Silent_p.P183P|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 183 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CAGAAGTGCCCCTTTGGCTGG 0.657000 23 24 0 0 0.008361 0 0 GGT1 2678 broad.mit.edu 37 22 25016896 25016896 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:25016896G>A uc003aan.1 + 8 1079 c.592G>A c.(592-594)Gat>Aat p.D198N GGT1_uc003aas.1_Missense_Mutation_p.D198N|GGT1_uc003aat.1_Missense_Mutation_p.D198N|GGT1_uc003aau.2_Missense_Mutation_p.D198N|GGT1_uc003aav.2_Missense_Mutation_p.D198N|GGT1_uc003aaw.2_Missense_Mutation_p.D198N|GGT1_uc003aax.2_Missense_Mutation_p.D198N NM_013430 NP_038347 P19440 GGT1_HUMAN Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA. 198 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GTTCTGCCGGGATAGAAAGGT 0.642000 16 7 0 0 0.006214 0 0 AHNAK 79026 broad.mit.edu 37 11 62285540 62285541 + Missense_Mutation DNP GG AA AA rs139375615 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:62285540_62285541GG>AA uc001ntl.3 - 4 16648_16649 c.16348_16349CC>TT c.(16348-16350)ccg>TTg p.P5450L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 5450 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GTCCACATTCGGTGCTGAAATC 0.564000 50 33 0 0 0.004672 0 0 KCND2 3751 broad.mit.edu 37 7 119915232 119915232 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:119915232G>A uc003vjj.1 + 0 1511 c.546G>A c.(544-546)acG>acA p.T182T NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 182 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding 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) ACACCAGCACGATGGCCCTGG 0.602000 20 35 0 0 0.013726 0 0 SLC26A7 115111 broad.mit.edu 37 8 92346639 92346639 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:92346639G>A uc003yez.3 + 5 998 c.759G>A c.(757-759)agG>agA p.R253R SLC26A7_uc003yex.3_Silent_p.R253R|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.R253R NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 253 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity p.R253R(3) breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGTTTAAAAGGAAAATTAAAG 0.363000 33 20 0 0 0.010504 0 0 GPR115 221393 broad.mit.edu 37 6 47682281 47682281 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:47682281G>A uc003oyz.1 + 6 1471 c.1471G>A c.(1471-1473)Gag>Aag p.E491K GPR115_uc003oza.1_Missense_Mutation_p.E434K|GPR115_uc003ozb.1_Missense_Mutation_p.E434K|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 434 M -> I (in Ref. 6; AAO85068). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GGTTGTGACGGAGATATCATA 0.483000 73 49 0 0 0.014410 0 0 KCNK5 8645 broad.mit.edu 37 6 39162039 39162039 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:39162039G>A uc003oon.3 - 3 904 c.540C>T c.(538-540)ttC>ttT p.F180F NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 180 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CCATGAATACGAAGGGTGGGA 0.572000 57 18 0 0 0.012319 0 0 LRFN2 57497 broad.mit.edu 37 6 40400569 40400569 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:40400569G>A uc003oph.1 - 1 749 c.284C>T c.(283-285)tCc>tTc p.S95F NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 95 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GTCCAGAAAGGAAAAGGGCTG 0.602000 33 15 0 0 0.004007 0 0 MLL2 8085 broad.mit.edu 37 19 36211154 36211154 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:36211154C>T uc021usv.1 + 2 905 c.905C>T c.(904-906)cCc>cTc p.P302L MLL2_uc021usu.1_5'UTR NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 744 Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGTGGGCTCCCCTTTGTGATC 0.587000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 12 10 0 0 0.008291 0 0 EPB41L1 2036 broad.mit.edu 37 20 34773072 34773072 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:34773072C>T uc002xfb.3 + 6 771 c.600C>T c.(598-600)atC>atT p.I200I EPB41L1_uc002xeu.3_Silent_p.I138I|EPB41L1_uc010zvo.1_Silent_p.I200I|EPB41L1_uc002xev.3_Silent_p.I200I|EPB41L1_uc002xew.3_Silent_p.I103I|EPB41L1_uc002xex.3_Silent_p.I169I|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.I138I NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 200 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GGGCAGACATCATCACGGGCC 0.612000 36 22 0 0 0.003330 0 0 RYR3 6263 broad.mit.edu 37 15 33822854 33822854 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:33822854C>T uc001zhi.3 + 3 411 c.341C>T c.(340-342)tCt>tTt p.S114F RYR3_uc010bar.3_Missense_Mutation_p.S114F NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 114 MIR 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGAGGCACTCTTTCAGCGGA 0.512000 18 11 0 0 0.002450 0 0 SATL1 340562 broad.mit.edu 37 X 84363419 84363419 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:84363419G>A uc004een.3 - 0 556 c.556C>T c.(556-558)Cca>Tca p.P186S NM_001012980 NP_001012998 Q86VE3 SATL1_HUMAN Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA. 242 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CTCATGTTTGGTTGCCTCAGG 0.552000 OREG0019887 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 35 0 0 0.006230 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801035 24801035 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:24801035C>T uc002dmm.3 + 5 1186 c.1072C>T c.(1072-1074)Cca>Tca p.P358S TNRC6A_uc010bxs.3_Missense_Mutation_p.P105S|TNRC6A_uc010vcc.1_Missense_Mutation_p.P105S|TNRC6A_uc002dmn.3_Missense_Mutation_p.P105S|TNRC6A_uc002dmo.3_Missense_Mutation_p.P105S NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA. 358 Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AGGGTTAAATCCAAGCACTTT 0.453000 64 36 0 0 0.008740 0 0 RNF19A 25897 broad.mit.edu 37 8 101300206 101300206 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:101300206G>A uc003yjj.1 - 2 514 c.197C>T c.(196-198)tCa>tTa p.S66L RNF19A_uc003yjk.1_Missense_Mutation_p.S66L|RNF19A_uc003yjl.1_Missense_Mutation_p.S66L NM_015435 NP_904355 Q9NV58 RN19A_HUMAN Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA. 66 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GGAGCCTATTGAAATTCTTCT 0.413000 50 48 0 0 0.014410 0 0 KIAA0753 9851 broad.mit.edu 37 17 6531867 6531867 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:6531867T>A uc002gde.4 - 2 647 c.288A>T c.(286-288)agA>agT p.R96S KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR NM_014804 NP_055619 Q2KHM9 K0753_HUMAN Homo sapiens KIAA0753 (KIAA0753), mRNA. 96 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) CATAGCTAAGTCTCTCTTGGG 0.408000 46 25 0 0 0.004656 0 0 PIP 5304 broad.mit.edu 37 7 142829228 142829228 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:142829228C>T uc003wcf.1 + 0 55 c.19C>T c.(19-21)Ctg>Ttg p.L7L NM_002652 NP_002643 P12273 PIP_HUMAN Homo sapiens prolactin-induced protein (PIP), mRNA. 7 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) GCTCCAGCTCCTGTTCAGGGC 0.562000 150 225 0 0 0.014410 0 0 DCC 1630 broad.mit.edu 37 18 51025679 51025679 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:51025679G>A uc002lfe.2 + 26 4526 c.3910G>A c.(3910-3912)Gga>Aga p.G1304R DCC_uc010dpf.2_Missense_Mutation_p.G937R NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1304 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGTGAGTGAAGGACCAACTAC 0.502000 28 35 0 0 0.006230 0 0 C8B 732 broad.mit.edu 37 1 57397551 57397551 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:57397551C>T uc001cyp.3 - 11 1620 c.1553_splice c.e11-1 p.G518_splice C8B_uc010oon.2_Splice_Site_p.G456_splice|C8B_uc010ooo.2_Splice_Site_p.G466_splice NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 518 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.G518E(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACAGCGTGATCCTGAGAAGAC 0.502000 3 32 0 0 0.004878 0 0 GNB1L 54584 broad.mit.edu 37 22 19776448 19776448 + Silent SNP G A A rs147234999 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:19776448G>A uc002zqf.1 - 7 1005 c.768C>T c.(766-768)atC>atT p.I256I NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA. 256 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) TGACCTCGGCGATCCCGGGAT 0.642000 23 31 0 0 0.013726 0 0 SLC35F1 222553 broad.mit.edu 37 6 118596645 118596645 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:118596645C>T uc003pxx.4 + 4 862 c.661C>T c.(661-663)Ctt>Ttt p.L221F NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA. 221 transport integral to membrane p.D220Y(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GGTAGGGGACCTTCTGGTCTT 0.448000 2 17 0 0 0.004990 0 0 PTPRE 5791 broad.mit.edu 37 10 129875896 129875896 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:129875896G>A uc009yat.3 + 19 2191 c.1774G>A c.(1774-1776)Gag>Aag p.E592K PTPRE_uc001lkb.3_Missense_Mutation_p.E581K|PTPRE_uc009yau.2_Missense_Mutation_p.E581K|PTPRE_uc001lkd.3_Missense_Mutation_p.E523K|PTPRE_uc010quq.1_Missense_Mutation_p.E482K NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 581 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGCCCGCCAGGAGGAGCAGGT 0.667000 11 10 0 0 0.001855 0 0 SALL1 6299 broad.mit.edu 37 16 51172696 51172696 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:51172696G>A uc021tif.1 - 1 3468 c.3146C>T c.(3145-3147)tCg>tTg p.S1049L SALL1_uc021tid.1_Missense_Mutation_p.S1049L|SALL1_uc021tie.1_Missense_Mutation_p.S1146L|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1146 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CAGGGCACTCGATGAGGAGAA 0.507000 13 9 0 0 0.010729 0 0 MLL3 58508 broad.mit.edu 37 7 151970823 151970823 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:151970823A>G uc003wla.3 - 6 1198 c.979T>C c.(979-981)Tgt>Cgt p.C327R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 327 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGTTCTGGACAAAGCAGGAAG 0.388000 N medulloblastoma 229 8 0 0 0.003080 0 0 PAPPA2 60676 broad.mit.edu 37 1 176708800 176708800 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:176708800T>A uc001gkz.3 + 12 5001 c.3837T>A c.(3835-3837)ttT>ttA p.F1279L PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1279 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 GAGCAATTTTTATTTTTTTGA 0.443000 125 39 0 0 0.010771 0 0 OGDHL 55753 broad.mit.edu 37 10 50947747 50947747 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:50947747T>A uc009xog.3 - 15 2394 c.2360A>T c.(2359-2361)aAt>aTt p.N787I OGDHL_uc001jie.3_Missense_Mutation_p.N760I|OGDHL_uc010qgt.2_Missense_Mutation_p.N703I|OGDHL_uc010qgu.2_Missense_Mutation_p.N551I NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 760 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 CACAATGCCATTATGCCGCAC 0.642000 27 17 0 0 0.010504 0 0 FLRT2 23768 broad.mit.edu 37 14 86088939 86088939 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:86088939C>T uc021rxf.1 + 0 1081 c.1081C>T c.(1081-1083)Ccc>Tcc p.P361S FLRT2_uc001xvr.3_Missense_Mutation_p.P361S|FLRT2_uc010atd.3_Missense_Mutation_p.P361S NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 361 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTTGTCCTGTCCCACCACGAC 0.557000 57 66 0 0 0.014410 0 0 NYAP2 57624 broad.mit.edu 37 2 226446677 226446677 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:226446677C>T uc002voe.2 + 3 719 c.544C>T c.(544-546)Cac>Tac p.H182Y NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 182 ACCAAGACCCCACAGCGATGA 0.398000 87 63 0 0 0.014410 0 0 CLCN4 1183 broad.mit.edu 37 X 10181893 10181893 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:10181893C>T uc004csy.4 + 10 2179 c.1749C>T c.(1747-1749)ttC>ttT p.F583F CLCN4_uc011mid.2_Silent_p.F489F NM_001830 NP_001821 P51793 CLCN4_HUMAN Homo sapiens chloride channel 4 (CLCN4), mRNA. 583 early endosome membrane|integral to membrane|late endosome membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGTACCCTTTCCTTGACGTGA 0.607000 32 36 0 0 0.004289 0 0 ELFN2 114794 broad.mit.edu 37 22 37769772 37769772 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:37769772G>A uc003asq.4 - 2 2589 c.1803C>T c.(1801-1803)ttC>ttT p.F601F ELFN2_uc021wph.1_Silent_p.F601F NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 601 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GAGGCGAAAGGAAGCTGGGCC 0.706000 4 6 0 0 0.001984 0 0 CHN1 1123 broad.mit.edu 37 2 175677155 175677155 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:175677155C>T uc002uji.3 - 8 1109 c.768G>A c.(766-768)aaG>aaA p.K256K CHN1_uc010zeq.2_Silent_p.K230K|CHN1_uc002ujj.3_Silent_p.K31K|CHN1_uc002ujg.3_Silent_p.K131K NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 256 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TCAAGTCTGGCTTACAGTCAT 0.403000 T TAF15 extraskeletal myxoid chondrosarcoma 40 25 0 0 0.005443 0 0 DKC1 1736 broad.mit.edu 37 X 153997502 153997502 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:153997502G>A uc004fmm.3 + 8 1042 c.832G>A c.(832-834)Gat>Aat p.D278N DKC1_uc010nvf.3_Missense_Mutation_p.D278N NM_001363 NP_001354 O60832 DKC1_HUMAN Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. 278 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex RNA binding|protein binding|pseudouridine synthase activity|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TAACCACAAGGATGAGAGTTA 0.433000 Congenital Dyskeratosis 173 78 0 0 0.014410 0 0 MLL2 8085 broad.mit.edu 37 12 49433379 49433379 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:49433379G>A uc001rta.4 - 31 8068 c.8068C>T c.(8068-8070)Ctg>Ttg p.L2690L NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2690 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TGCCGAATCAGCAGCTCTCGT 0.572000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 10 12 0 0 0.001855 0 0 PCDP1 200373 broad.mit.edu 37 2 120397388 120397388 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:120397388G>A uc002tmb.3 + 21 2419 c.1307G>A c.(1306-1308)aGc>aAc p.S436N NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 722 cilium calmodulin binding Colorectal(110;0.196) CACTGGAAAAGCTTCCAGTCC 0.483000 36 26 0 0 0.005443 0 0 CWH43 80157 broad.mit.edu 37 4 49040068 49040068 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:49040068G>A uc003gyv.3 + 12 1856 c.1674G>A c.(1672-1674)agG>agA p.R558R CWH43_uc011bzl.2_Silent_p.R531R NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 558 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 ACCTCGACAGGAAACTGCAGG 0.353000 127 105 0 0 0.014410 0 0 MUC5B 727897 broad.mit.edu 37 11 1270696 1270696 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:1270696G>A uc001lta.3 + 30 12645 c.12586G>A c.(12586-12588)Gac>Aac p.D4196N NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4196 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ATGCAGCCTGGACTTTGGCCT 0.632000 50 44 0 0 0.014410 0 0 CCDC22 28952 broad.mit.edu 37 X 49105171 49105171 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:49105171G>A uc004dnd.2 + 11 1577 c.1407G>A c.(1405-1407)agG>agA p.R469R NM_014008 NP_054727 O60826 CCD22_HUMAN Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA. 469 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 AGGCCCGCAGGAAGGAGGAGG 0.607000 10 12 0 0 0.001855 0 0 FAM5C 339479 broad.mit.edu 37 1 190067264 190067264 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:190067264G>A uc001gse.1 - 7 2417 c.2185C>T c.(2185-2187)Cgt>Tgt p.R729C FAM5C_uc010pot.1_Missense_Mutation_p.R627C NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 729 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) AGTCTATGACGAAGCAAGCAA 0.463000 128 56 0 0 0.014410 0 0 THSD1P1 374500 broad.mit.edu 37 13 52854826 52854826 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:52854826C>T uc001vgm.1 - 4 c.446G>A Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA. CCATCACTTTCGTATCACCTT 0.284000 80 23 0 0 0.004656 0 0 ROS1 6098 broad.mit.edu 37 6 117724305 117724305 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:117724305C>T uc003pxp.1 - 5 773 c.574G>A c.(574-576)Gga>Aga p.G192R ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 192 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACCATACCTCCATGAGGATGA 0.413000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 3 42 0 0 0.014410 0 0 AOAH 313 broad.mit.edu 37 7 36633966 36633966 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:36633966C>T uc022abu.1 - 11 1318 c.917G>A c.(916-918)gGa>gAa p.G306E AOAH_uc003tfh.4_Missense_Mutation_p.G306E|AOAH_uc011kba.2_Missense_Mutation_p.G274E NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 306 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GTCCAGAAATCCTGTAGCACC 0.443000 49 56 0 0 0.014410 0 0 NTN4 59277 broad.mit.edu 37 12 96106999 96106999 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:96106999C>T uc001tei.3 - 3 1431 c.982G>A c.(982-984)Gag>Aag p.E328K NTN4_uc009ztf.3_Missense_Mutation_p.E328K|NTN4_uc009ztg.3_Missense_Mutation_p.E291K NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 328 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTTCTGCACTCGTTGGGAGCC 0.502000 22 19 0 0 0.008871 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809786 18809786 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:18809786G>A uc001bax.3 + 0 2363 c.2311G>A c.(2311-2313)Gat>Aat p.D771N KLHDC7A_uc009vpg.3_Intron NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 771 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCCCACCCCCGATTTGCCTCA 0.657000 5 58 0 0 0.014410 0 0 MEPE 56955 broad.mit.edu 37 4 88766623 88766623 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:88766623C>T uc021xpx.1 + 3 708 c.696C>T c.(694-696)tcC>tcT p.S232S MEPE_uc021xpu.1_Silent_p.S201S|MEPE_uc021xpv.1_Silent_p.S88S|MEPE_uc021xpw.1_Silent_p.S88S|MEPE_uc010ikn.3_Silent_p.S88S|MEPE_uc003hqy.3_Silent_p.S201S|MEPE_uc021xpy.1_Silent_p.S88S NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 201 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AAAGAGATTCCCAAGCCCAGA 0.383000 32 29 0 0 0.007291 0 0 GRIA1 2890 broad.mit.edu 37 5 153190778 153190778 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:153190778G>A uc011dcy.2 + 15 2771 c.2744G>A c.(2743-2745)gGa>gAa p.G915E GRIA1_uc003lva.4_Missense_Mutation_p.G905E|GRIA1_uc003luy.4_Missense_Mutation_p.G905E|GRIA1_uc003luz.4_Missense_Mutation_p.G810E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G825E|GRIA1_uc011dcx.2_Missense_Mutation_p.G836E|GRIA1_uc011dcz.2_Missense_Mutation_p.G915E NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 905 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGAGCCACGGGATTGTAACTG 0.557000 8 13 0 0 0.002450 0 0 FRMD4A 55691 broad.mit.edu 37 10 13698879 13698879 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:13698879G>A uc001ims.3 - 21 3062 c.2710C>T c.(2710-2712)Ctg>Ttg p.L904L FRMD4A_uc009xjf.1_Silent_p.L904L NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN Homo sapiens FERM domain containing 4A (FRMD4A), mRNA. 904 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GGAGTCCGCAGGATCTGCGAT 0.746000 1 5 0 0 0.000602 0 0 LOC440040 440040 broad.mit.edu 37 11 49597902 49597902 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:49597902C>T uc010rhy.2 + 1 493 c.15C>T c.(13-15)atC>atT p.I5I LOC440040_uc009ymb.3_Silent_p.I5I Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. TGGGTGACATCATTATTGGAG 0.498000 14 23 0 0 0.002780 0 0 MYOM2 9172 broad.mit.edu 37 8 1998971 1998971 + Missense_Mutation SNP G A A rs148337899 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:1998971G>A uc003wpx.4 + 1 229 c.91G>A c.(91-93)Gaa>Aaa p.E31K MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 31 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCTGCTGGACGAATATGCGTC 0.493000 16 16 0 0 0.004990 0 0 CCR8 1237 broad.mit.edu 37 3 39374688 39374688 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:39374688C>T uc010hhr.2 + 1 1004 c.866C>T c.(865-867)tCc>tTc p.S289F CCR8_uc003cjm.2_Missense_Mutation_p.S206F|CCR8_uc021wwe.1_Missense_Mutation_p.S289F NM_005201 NP_005192 P51685 CCR8_HUMAN Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA. 289 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GAAATCATTTCCTTTACTCAC 0.423000 21 28 0 0 0.008361 0 0 PTPRN2 5799 broad.mit.edu 37 7 157414156 157414156 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:157414156C>T uc003wno.3 - 14 2363 c.2242G>A c.(2242-2244)Gag>Aag p.E748K PTPRN2_uc003wnp.3_Missense_Mutation_p.E731K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E719K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E710K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E771K NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 748 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCTTCCCACTCCTTCTCCAGC 0.627000 84 170 0 0 0.014410 0 0 TPTE 7179 broad.mit.edu 37 21 10910308 10910308 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:10910308G>A uc002yip.1 - 22 1817 c.1449_splice c.e22+1 p.S483_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S465_splice|TPTE_uc002yir.1_Splice_Site_p.S445_splice|TPTE_uc010gkv.1_Splice_Site_p.S345_splice NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 483 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTACTCACCGAATAGAAAAA 0.373000 122 16 0 0 0.010504 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101592859 101592859 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:101592859C>T uc003knm.3 - 7 1716 c.1429G>A c.(1429-1431)Gaa>Aaa p.E477K NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 477 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GGCTCATTTTCACATTTGGCA 0.323000 26 25 0 0 0.004656 0 0 SLC37A3 84255 broad.mit.edu 37 7 140080110 140080110 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:140080110A>T uc003vvo.3 - 2 336 c.170T>A c.(169-171)tTt>tAt p.F57Y SLC37A3_uc003vvp.3_Missense_Mutation_p.F57Y|SLC37A3_uc010lnh.3_Missense_Mutation_p.F57Y|SLC37A3_uc011kqz.2_Non-coding_Transcript|SLC37A3_uc011kra.1_Missense_Mutation_p.F57Y|SLC37A3_uc011krb.1_Missense_Mutation_p.F57Y NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA. 57 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) TGACGTGTTAAAAGCACTTGG 0.458000 36 24 0 0 0.008361 0 0 KRT6B 3854 broad.mit.edu 37 12 52840992 52840992 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:52840992C>T uc001sak.3 - 8 1725 c.1677G>A c.(1675-1677)agG>agA p.R559R NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 559 Tail. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TGTAGCTCTTCCTGCTGGAGG 0.617000 37 24 0 0 0.007291 0 0 BC067347 0 broad.mit.edu 37 17 20744515 20744515 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:20744515C>T uc010crb.2 + 0 c.175C>T Homo sapiens cDNA clone IMAGE:6269068, partial cds. GGACCGCCCCCTTGGGGACCC 0.736000 8 15 0 0 0.002450 0 0 SYNJ1 8867 broad.mit.edu 37 21 34072229 34072229 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:34072229G>A uc002yqh.2 - 3 515 c.515C>T c.(514-516)tCt>tTt p.S172F SYNJ1_uc011ads.1_Missense_Mutation_p.S133F|SYNJ1_uc002yqf.2_Missense_Mutation_p.S133F|SYNJ1_uc002yqg.2_Missense_Mutation_p.S133F|SYNJ1_uc002yqi.2_Missense_Mutation_p.S172F NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 133 SAC. 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 GCCAGATGCAGACCATGCAAA 0.383000 14 13 0 0 0.001855 0 0 SYCE2 256126 broad.mit.edu 37 19 13015451 13015451 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:13015451C>T uc002mvr.2 - 2 176 c.161G>A c.(160-162)gGg>gAg p.G54E NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN Homo sapiens synaptonemal complex central element protein 2 (SYCE2), mRNA. 54 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 TCCCGACTTCCCTTCCAGGAC 0.552000 64 55 0 0 0.014410 0 0 TOP2A 7153 broad.mit.edu 37 17 38568058 38568058 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:38568058G>A uc002huq.3 - 7 961 c.802C>T c.(802-804)Cgt>Tgt p.R268C TOP2A_uc002hur.1_5'Flank NM_001067 NP_001058 P11388 TOP2A_HUMAN Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA. 268 DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) ACATAACTACGAAATCCTTTT 0.343000 27 13 0 0 0.013537 0 0 RELN 5649 broad.mit.edu 37 7 103162566 103162566 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:103162566C>T uc022ajr.1 - 47 7731 c.7571G>A c.(7570-7572)cGa>cAa p.R2524Q RELN_uc022ajq.1_Missense_Mutation_p.R2524Q|RELN_uc010liz.3_Missense_Mutation_p.R2524Q NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2524 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.R2524R(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) GGATGGAGCTCGATTGAAGTT 0.547000 57 23 0 0 0.014323 0 0 TNXB 7148 broad.mit.edu 37 6 32015760 32015760 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32015760C>T uc003nzl.2 - 29 10271 c.10069G>A c.(10069-10071)Ggg>Agg p.G3357R 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. 3404 Fibronectin type-III 25. 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 GTCAGCTCCCCCAGGCGGGGA 0.612000 268 128 0 0 0.014410 0 0 PKD1 5310 broad.mit.edu 37 16 2161784 2161784 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:2161784G>A uc002cos.1 - 14 3593 c.3384C>T c.(3382-3384)tcC>tcT p.S1128S TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S1128S NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 1128 PKD 5.|PKD 6. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding p.S1128T(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCACAGCCACGGAGGGCAGGG 0.672000 8 6 0 0 0.001168 0 0 SF1 7536 broad.mit.edu 37 11 64534462 64534462 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:64534462G>A uc001obb.2 - 11 1944 c.1492C>T c.(1492-1494)Ccc>Tcc p.P498S SF1_uc010rnm.2_Missense_Mutation_p.P190S|SF1_uc010rnn.2_Missense_Mutation_p.P472S|SF1_uc001oaz.2_Missense_Mutation_p.P623S|SF1_uc001oba.2_Missense_Mutation_p.P498S|SF1_uc001obd.2_Missense_Mutation_p.S499F|SF1_uc001obc.2_Missense_Mutation_p.P498S|SF1_uc001obe.2_Missense_Mutation_p.S384F|SF1_uc010rno.2_Missense_Mutation_p.P383S|SF1_uc021qky.1_5'Flank NM_004630 NP_001171502 Q15637 SF01_HUMAN Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA. 498 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex RNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TGCCATGGGGGAAGAGGACCA 0.662000 26 37 0 0 0.004878 0 0 FGA 2243 broad.mit.edu 37 4 155509998 155509998 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:155509998G>A uc003iod.1 - 2 369 c.311C>T c.(310-312)tCg>tTg p.S104L FGA_uc003ioe.1_Missense_Mutation_p.S104L|FGA_uc003iof.1_Missense_Mutation_p.S104L NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 104 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGTGGTCAACGAATGAGAATC 0.294000 98 88 0 0 0.014410 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004526 41004526 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:41004526G>A uc003jmj.4 - 36 4606 c.4116C>T c.(4114-4116)atC>atT p.I1372I HEATR7B2_uc003jmi.4_Silent_p.I927I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1372 binding p.I1372T(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GCAGCTCCAGGATTTTTTTTA 0.438000 52 51 0 0 0.014410 0 0 C1orf173 127254 broad.mit.edu 37 1 75036996 75036996 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:75036996C>T uc001dgg.3 - 13 4617 c.4398G>A c.(4396-4398)caG>caA p.Q1466Q NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1466 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTCCTGTCTCCTGCCTCCCAT 0.587000 10 100 0 0 0.014410 0 0 RANBP3 8498 broad.mit.edu 37 19 5932511 5932511 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:5932511G>A uc002mdw.3 - 6 744 c.517C>T c.(517-519)Cgc>Tgc p.R173C RANBP3_uc002mdv.3_5'UTR|RANBP3_uc002mdx.3_Missense_Mutation_p.R173C|RANBP3_uc002mdy.3_Missense_Mutation_p.R105C|RANBP3_uc002mdz.3_Missense_Mutation_p.R105C|RANBP3_uc010duq.3_Missense_Mutation_p.R83C|RANBP3_uc010xix.2_Missense_Mutation_p.R45C NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA. 173 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 ACTGCCGGGCGAAGCACGCTC 0.667000 50 35 0 0 0.006999 0 0 XIRP2 129446 broad.mit.edu 37 2 168074691 168074691 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:168074691G>A uc002udx.3 + 4 828 c.739G>A c.(739-741)Gaa>Aaa p.E247K XIRP2_uc010fpn.3_Missense_Mutation_p.E280K|XIRP2_uc010fpo.3_Missense_Mutation_p.E247K|XIRP2_uc002udy.3_Missense_Mutation_p.E72K|XIRP2_uc010fpq.3_Missense_Mutation_p.E25K|XIRP2_uc010fpr.3_Missense_Mutation_p.E25K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 72 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 GGAAGAATCAGAAATGTGCGC 0.378000 40 34 0 0 0.004878 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855621 12855621 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:12855621A>C uc001auj.2 + 3 1004 c.901A>C c.(901-903)Act>Cct p.T301P NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 301 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTGGAATTAACTTATGGCTA 0.473000 7 88 0 0 0.014410 0 0 PCK1 5105 broad.mit.edu 37 20 56140524 56140524 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:56140524C>T uc002xyn.4 + 9 1696 c.1533C>T c.(1531-1533)atC>atT p.I511I PCK1_uc010zzm.2_Silent_p.I194I NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 511 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TGCCCAAGATCTTCCATGTCA 0.562000 30 22 0 0 0.002780 0 0 VAC14 55697 broad.mit.edu 37 16 70820255 70820255 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:70820255A>G uc002ezm.3 - 1 376 c.118T>C c.(118-120)Ttc>Ctc p.F40L VAC14_uc010cfw.3_Intron|VAC14_uc002ezn.3_5'UTR|TRNA_Gly_uc021tko.1_5'Flank NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA. 40 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TGGGCCACGAACTCCCGGACC 0.617000 30 24 0 0 0.005443 0 0 GABRA6 2559 broad.mit.edu 37 5 161115987 161115987 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:161115987C>T uc003lyu.2 + 3 596 c.258C>T c.(256-258)acC>acT p.T86T GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 86 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCCGCCAGACCTGGACTGATG 0.403000 TCGA Ovarian(5;0.080) 57 30 0 0 0.008740 0 0 ESRRG 2104 broad.mit.edu 37 1 216850662 216850662 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:216850662C>T uc001hkw.2 - 1 401 c.228G>A c.(226-228)caG>caA p.Q76Q ESRRG_uc009xdp.1_Silent_p.Q53Q|ESRRG_uc001hky.1_Silent_p.Q53Q|ESRRG_uc001hkz.2_Silent_p.Q53Q|ESRRG_uc010puc.2_Silent_p.Q53Q|ESRRG_uc001hla.2_Silent_p.Q53Q|ESRRG_uc001hlb.2_Silent_p.Q53Q|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Silent_p.Q53Q|ESRRG_uc001hld.1_Silent_p.Q53Q|ESRRG_uc001hkx.2_Silent_p.Q81Q|ESRRG_uc009xdo.2_Silent_p.Q53Q|ESRRG_uc001hle.2_Silent_p.Q53Q|ESRRG_uc021piz.1_Silent_p.Q53Q NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 76 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CAAGTCCGTTCTGATGGCCAT 0.572000 2 91 0 0 0.014410 0 0 CHST13 166012 broad.mit.edu 37 3 126261167 126261167 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:126261167C>T uc003eja.3 + 2 817 c.772C>T c.(772-774)Cgc>Tgc p.R258C NM_152889 NP_690849 Q8NET6 CHSTD_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA. 258 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) CCACCCGTGTCGCCTCCGCTA 0.716000 3 4 0 0 0.009096 0 0 SOX4 6659 broad.mit.edu 37 6 21595725 21595725 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:21595725C>T uc003ndi.3 + 0 1754 c.960C>T c.(958-960)gaC>gaT p.D320D NM_003107 NP_003098 Q06945 SOX4_HUMAN Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA. 320 DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development mitochondrion|nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) ACCCCAGCGACCCCCTGGGCC 0.776000 10 5 0 0 0.001168 0 0 APOB 338 broad.mit.edu 37 2 21228558 21228558 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:21228558C>T uc002red.3 - 25 11310 c.11182G>A c.(11182-11184)Gat>Aat p.D3728N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3728 D -> N (in Ref. 24; AAA51742). 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) ATGAATTTATCAGCCAAAACT 0.413000 291 253 0 0 0.014410 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34033477 34033477 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:34033477G>A uc003jio.3 - 2 643 c.502C>T c.(502-504)Cga>Tga p.R168* C1QTNF3_uc003jin.3_Nonsense_Mutation_p.R95* NM_181435 NP_852100 Q9BXJ4 C1QT3_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA. 95 C1q. collagen p.P167L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) CGCTCCCCTCGAGGCCCCAGG 0.562000 41 32 0 0 0.003271 0 0 CHMP4C 92421 broad.mit.edu 37 8 82667641 82667641 + Silent SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:82667641C>A uc003ycl.3 + 2 579 c.405C>A c.(403-405)atC>atA p.I135I NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 135 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 TGCAAGAGATCACAGAGCAAC 0.338000 23 15 1.15088e-07 1.55201e-07 0.004007 1 0 PLCL2 23228 broad.mit.edu 37 3 17056385 17056385 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:17056385C>T uc011awc.2 + 3 3072 c.2976C>T c.(2974-2976)atC>atT p.I992I PLCL2_uc011awd.2_Silent_p.I874I NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 1000 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGAAGAAGATCGTAACAACTT 0.483000 60 46 0 0 0.011902 0 0 MACC1 346389 broad.mit.edu 37 7 20201451 20201451 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:20201451C>T uc003sus.4 - 3 344 c.35G>A c.(34-36)gGa>gAa p.G12E MACC1_uc010kug.3_Missense_Mutation_p.G12E NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 12 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TGCAATTCTTCCTGACCGAAA 0.333000 121 107 0 0 0.014410 0 0 ETNK1 55500 broad.mit.edu 37 12 22826574 22826574 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:22826574C>T uc001rft.3 + 5 1214 c.1192C>T c.(1192-1194)Caa>Taa p.Q398* ETNK1_uc009ziz.3_Nonsense_Mutation_p.Q398* NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA. 398 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ACTCTTCATTCAAGTCAATCA 0.353000 21 25 0 0 0.003954 0 0 ART1 417 broad.mit.edu 37 11 3680495 3680495 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:3680495G>A uc001lye.1 + 1 153 c.52G>A c.(52-54)Gaa>Aaa p.E18K ART1_uc009yeb.1_Missense_Mutation_p.E18K NM_004314 NP_004305 P52961 NAR1_HUMAN Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA. 18 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GGGCCTCATGGAAGCACTTCA 0.547000 32 33 0 0 0.006999 0 0 PTPRE 5791 broad.mit.edu 37 10 129866536 129866536 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:129866536C>T uc009yat.3 + 12 1443 c.1026C>T c.(1024-1026)atC>atT p.I342I PTPRE_uc001lkb.3_Silent_p.I331I|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.I331I|PTPRE_uc001lkd.3_Silent_p.I273I|PTPRE_uc010quq.1_Silent_p.I232I NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 331 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CTGGGCCCATCGTGGTCCACT 0.612000 23 20 0 0 0.014323 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32610394 32610394 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32610394G>A uc003obr.3 + 3 674 c.621G>A c.(619-621)gaG>gaA p.E207E HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_3'UTR|HLA-DQA1_uc003obu.3_Non-coding_Transcript|HLA-DQA1_uc021yvy.1_5'Flank NM_002122 NP_002113 P01909 DQA1_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA. 206 Connecting peptide. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CAGAGCCTGAGATTCCAGCCC 0.547000 31 8 0 0 0.013537 0 0 CD163 9332 broad.mit.edu 37 12 7635594 7635594 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:7635594G>A uc001qsz.3 - 12 3223 c.3095C>T c.(3094-3096)tCa>tTa p.S1032L CD163_uc001qta.3_Missense_Mutation_p.S1032L|CD163_uc009zfw.2_Missense_Mutation_p.S1065L NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1032 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTCTGCACTGAAATATCTGT 0.358000 56 40 0 0 0.013114 0 0 CC2D2A 57545 broad.mit.edu 37 4 15518298 15518298 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:15518298C>T uc010idv.2 + 11 1313 c.1068C>T c.(1066-1068)ccC>ccT p.P356P CC2D2A_uc003gnx.3_Silent_p.P307P|CC2D2A_uc003gnv.2_Silent_p.P356P|AX746699_uc003gny.1_5'Flank NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA. 356 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 TGCCAAACCCCATCAAGCCAT 0.468000 22 9 0 0 0.004482 0 0 CA9 768 broad.mit.edu 37 9 35675809 35675809 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:35675809C>T uc003zxo.4 + 2 527 c.485C>T c.(484-486)tCc>tTc p.S162F C9orf100_uc003zxl.3_Non-coding_Transcript NM_001216 NP_001207 Q16790 CAH9_HUMAN Homo sapiens carbonic anhydrase IX (CA9), mRNA. 162 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGCTTCCAGTCCCCGGTGGAT 0.711000 12 7 0 0 0.003080 0 0 MLKL 197259 broad.mit.edu 37 16 74729212 74729212 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:74729212G>A uc002fdb.2 - 1 885 c.444C>T c.(442-444)ttC>ttT p.F148F MLKL_uc002fdc.2_Silent_p.F148F NM_152649 NP_689862 Q8NB16 MLKL_HUMAN Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA. 148 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TTAGCATCTGGAAAGCTCGCC 0.498000 46 40 0 0 0.007835 0 0 LOC440040 440040 broad.mit.edu 37 11 49598031 49598031 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:49598031G>A uc010rhy.2 + 1 622 c.144G>A c.(142-144)agG>agA p.R48R LOC440040_uc009ymb.3_Silent_p.R48R Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. CCCTGGAAAGGATCAATTCAG 0.537000 7 7 0 0 0.001984 0 0 PLCB4 5332 broad.mit.edu 37 20 9317854 9317854 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:9317854G>A uc021wam.1 + 2 180 c.165_splice c.e2+1 p.K55_splice PLCB4_uc010gbw.1_Splice_Site_p.K55_splice|PLCB4_uc010gbx.3_Splice_Site_p.K55_splice|PLCB4_uc021wal.1_Splice_Site_p.K55_splice NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 55 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TGAAGGCAAGGTATGGCCCAA 0.418000 32 25 0 0 0.005443 0 0 TAGAP 117289 broad.mit.edu 37 6 159456927 159456927 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:159456927C>T uc003qrz.3 - 9 2460 c.2128G>A c.(2128-2130)Gtg>Atg p.V710M TAGAP_uc011eft.2_Missense_Mutation_p.V647M|TAGAP_uc003qsa.3_Missense_Mutation_p.V532M NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 710 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity p.V710M(2) NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CATCGTCGCACGAGACAGTCC 0.577000 24 4 0 0 0.009096 0 0 GBX1 2636 broad.mit.edu 37 7 150845828 150845828 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:150845828C>T uc011kvg.2 - 1 1172 c.940G>A c.(940-942)Gcc>Acc p.A314T NM_001098834 NP_001092304 Q14549 GBX1_HUMAN Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA. 314 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCACTTGGCCCGTCGATTC 0.537000 76 33 0 0 0.003755 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23458423 23458423 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:23458423C>T uc003swg.3 - 2 523 c.257G>A c.(256-258)cGa>cAa p.R86Q IGF2BP3_uc003swh.1_Non-coding_Transcript NM_006547 NP_006538 O00425 IF2B3_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA. 86 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CGGGATATTTCGTATCTGAAG 0.303000 9 12 0 0 0.004007 0 0 ZFX 7543 broad.mit.edu 37 X 24229431 24229431 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:24229431C>T uc011mjv.2 + 9 2722 c.2473C>T c.(2473-2475)Cga>Tga p.R825* ZFX_uc004dbd.2_Nonsense_Mutation_p.R786*|ZFX_uc004dbf.3_Nonsense_Mutation_p.R786*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.R786*|ZFX_uc010nfx.2_Nonsense_Mutation_p.R557*|ZFX_uc010nfz.3_Nonsense_Mutation_p.R442* NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 786 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 GAAAGGCTTCCGAAGACCTTC 0.438000 39 22 0 0 0.012319 0 0 VPS13D 55187 broad.mit.edu 37 1 12371954 12371954 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:12371954A>G uc001atv.3 + 28 7048 c.6907A>G c.(6907-6909)Aga>Gga p.R2303G VPS13D_uc001atw.3_Missense_Mutation_p.R2303G|VPS13D_uc001atx.3_Missense_Mutation_p.R1491G|VPS13D_uc001aty.1_Missense_Mutation_p.R41G NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2303 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGATCCAAAAAGAAAAGAAGG 0.378000 31 27 0 0 0.006320 0 0 PNLIP 5406 broad.mit.edu 37 10 118306806 118306806 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:118306806G>A uc001lcm.3 + 3 90 c.47_splice c.e3-1 p.G16_splice NM_000936 NP_000927 P16233 LIPP_HUMAN Homo sapiens pancreatic lipase (PNLIP), mRNA. 16 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GGGATTGCAGGAAAAGAAGTT 0.418000 28 24 0 0 0.004656 0 0 PTPRS 5802 broad.mit.edu 37 19 5244244 5244245 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:5244244_5244245GG>AA uc002mbv.3 - 10 1471_1472 c.1237_1238CC>TT c.(1237-1239)ccc>TTc p.P413F PTPRS_uc002mbu.1_Missense_Mutation_p.P400F|PTPRS_uc010xin.2_Missense_Mutation_p.P400F|PTPRS_uc002mbw.3_Missense_Mutation_p.P400F|PTPRS_uc002mbx.3_Missense_Mutation_p.P404F|PTPRS_uc002mby.3_Missense_Mutation_p.P400F NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 413 Fibronectin type-III 1. 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) GGACTCGCTGGGGGGCCCCTGG 0.678000 22 18 0 0 0.004672 0 0 MYH4 4622 broad.mit.edu 37 17 10348605 10348605 + Silent SNP G A A rs149221663 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10348605G>A uc002gmn.3 - 35 5355 c.5244C>T c.(5242-5244)atC>atT p.I1748I AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1748 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 CTTCCTGGACGATGTCCTCCA 0.468000 69 63 0 0 0.014410 0 0 LMX1A 4009 broad.mit.edu 37 1 165218847 165218847 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:165218847G>A uc001gcz.2 - 3 488 c.294C>T c.(292-294)ttC>ttT p.F98F LMX1A_uc021pdz.1_Silent_p.F98F NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 98 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGATGGCCTCGAAGCAGCCCC 0.542000 0 38 0 0 0.007835 0 0 CDH10 1008 broad.mit.edu 37 5 24488164 24488164 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:24488164C>T uc003jgr.2 - 11 2481 c.1975G>A c.(1975-1977)Gat>Aat p.D659N CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 659 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCACCCTCATCGTTATAGCTC 0.453000 HNSCC(23;0.051) 57 45 0 0 0.014410 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770035 112770035 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:112770035G>A uc003kqm.2 - 0 694 c.502C>T c.(502-504)Cga>Tga p.R168* MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 168 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) AATGCCATTCGACCACTGTCA 0.567000 26 23 0 0 0.006320 0 0 MMADHC 27249 broad.mit.edu 37 2 150436117 150436117 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:150436117G>A uc002txc.3 - 3 405 c.200C>T c.(199-201)cCt>cTt p.P67L NM_015702 NP_056517 Q9H3L0 MMAD_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA. 67 mitochondrion breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2) 11 CTGATCTTGAGGTCCAAAGGG 0.433000 21 31 0 0 0.003755 0 0 BMP5 653 broad.mit.edu 37 6 55659080 55659080 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:55659080C>T uc003pcq.3 - 2 1541 c.829G>A c.(829-831)Gat>Aat p.D277N BMP5_uc011dxf.2_Missense_Mutation_p.D277N NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 277 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TGCTTACCATCCCCTGTTTCT 0.348000 36 24 0 0 0.014323 0 0 GRIA1 2890 broad.mit.edu 37 5 153030056 153030056 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:153030056C>T uc011dcy.2 + 3 684 c.657C>T c.(655-657)ctC>ctT p.L219L GRIA1_uc003lva.4_Silent_p.L209L|GRIA1_uc003luy.4_Silent_p.L209L|GRIA1_uc003luz.4_Silent_p.L114L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L129L|GRIA1_uc011dcx.2_Silent_p.L140L|GRIA1_uc011dcz.2_Silent_p.L219L|GRIA1_uc010jia.1_Silent_p.L189L NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 209 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGAACGCCTCAATGCTATCT 0.522000 31 14 0 0 0.003163 0 0 APOA4 337 broad.mit.edu 37 11 116692365 116692365 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:116692365G>A uc001pps.1 - 2 513 c.409C>T c.(409-411)Ccc>Tcc p.P137S NM_000482 NP_000473 Homo sapiens apolipoprotein A-IV (APOA4), mRNA. cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCCGCGTagggctccaggcgc 0.682000 9 70 0 0 0.014410 0 0 NOS1 4842 broad.mit.edu 37 12 117696239 117696239 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:117696239C>T uc001twn.2 - 15 3205 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K NOS1_uc021ren.1_Missense_Mutation_p.E496K|NOS1_uc021reo.1_Missense_Mutation_p.E496K|NOS1_uc001twm.2_Missense_Mutation_p.E832K NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 832 Flavodoxin-like. 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) TGCCTCATTTCCATCAAAGCA 0.498000 34 25 0 0 0.004656 0 0 FAM83B 222584 broad.mit.edu 37 6 54805936 54805936 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:54805936G>A uc003pck.3 + 4 2283 c.2167G>A c.(2167-2169)Gaa>Aaa p.E723K NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 723 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) GGATGAGGAGGAAGTTACCAA 0.403000 38 25 0 0 0.007291 0 0 PTPRB 5787 broad.mit.edu 37 12 70932012 70932012 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:70932012C>T uc001swb.4 - 26 5246 c.5216_splice c.e26-1 p.Y1739_splice BC031864_uc001svz.3_Non-coding_Transcript|PTPRB_uc010sto.2_Splice_Site_p.Y1649_splice|PTPRB_uc010stp.2_Splice_Site_p.Y1649_splice|PTPRB_uc001swc.4_Splice_Site_p.Y1957_splice|PTPRB_uc001swa.4_Splice_Site_p.Y1869_splice NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1739 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTGGCATCATCTGGAAGGAGA 0.478000 25 43 0 0 0.014410 0 0 MCMBP 79892 broad.mit.edu 37 10 121618633 121618633 + Missense_Mutation SNP G A A rs139316442 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:121618633G>A uc001ler.2 - 2 503 c.205C>T c.(205-207)Cgt>Tgt p.R69C MCMBP_uc001les.1_5'UTR|MCMBP_uc021pzr.1_5'Flank NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA. 69 DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 ATCATGCAACGAAATTTCACA 0.343000 27 26 0 0 0.003330 0 0 PSKH2 85481 broad.mit.edu 37 8 87076231 87076231 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:87076231C>T uc011lfy.2 - 1 815 c.815G>A c.(814-816)aGg>aAg p.R272K NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN Homo sapiens protein serine kinase H2 (PSKH2), mRNA. 272 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) CAGAATCTTCCTGTAAAGCCT 0.413000 18 17 0 0 0.012319 0 0 GRXCR1 389207 broad.mit.edu 37 4 42964963 42964963 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:42964963C>T uc003gwt.3 + 1 440 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 147 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity p.R147L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CACCTGCCTTCGTGTGGTCCG 0.388000 48 54 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179588019 179588019 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179588019G>A uc021vsy.1 - 71 18208 c.17983C>T c.(17983-17985)Cat>Tat p.H5995Y TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H2656Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6922 Ig-like 41. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A5994T(1) 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) TCTACAGAATGATCACTTAAT 0.388000 24 16 0 0 0.006122 0 0 MYBL2 4605 broad.mit.edu 37 20 42328579 42328579 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:42328579C>T uc002xlb.1 + 6 1061 c.846C>T c.(844-846)tcC>tcT p.S282S MYBL2_uc010zwj.1_Silent_p.S258S NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 282 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGGAAGGCTCCCCACCAGAAA 0.587000 17 6 0 0 0.001168 0 0 MUCL1 118430 broad.mit.edu 37 12 55250568 55250568 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:55250568G>A uc001sgk.3 + 2 183 c.115G>A c.(115-117)Gat>Aat p.D39N NM_058173 NP_477521 Q96DR8 MUCL1_HUMAN Homo sapiens mucin-like 1 (MUCL1), mRNA. 39 Thr-rich. extracellular region|membrane breast(1)|kidney(1)|lung(1) 3 tcctgctgatgatgaagcccc 0.502000 10 8 0 0 0.003080 0 0 GPX6 257202 broad.mit.edu 37 6 28472176 28472176 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:28472176G>A uc021yrx.1 - 4 609 c.559C>T c.(559-561)Ctg>Ttg p.L187L GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 187 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) GGCCCCACCAGAAATTTCTCA 0.522000 77 31 0 0 0.012213 0 0 EP400 57634 broad.mit.edu 37 12 132491260 132491260 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:132491260C>T uc001ujn.3 + 14 3294 c.3142C>T c.(3142-3144)Cca>Tca p.P1048S EP400_uc021rgq.1_Missense_Mutation_p.P1047S|EP400_uc001ujm.3_Missense_Mutation_p.P1048S NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 1084 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GTTTAATGCTCCATCTTTGTT 0.398000 25 16 0 0 0.004990 0 0 EPPK1 83481 broad.mit.edu 37 8 144942083 144942083 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:144942083C>T uc003zaa.1 - 0 5352 c.5339G>A c.(5338-5340)aGa>aAa p.R1780K NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1780 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TTTTGCAGTTCTGGATTGCAA 0.532000 27 17 0 0 0.004007 0 0 KCNT2 343450 broad.mit.edu 37 1 196309516 196309516 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:196309516G>A uc001gtd.1 - 15 1798 c.1738C>T c.(1738-1740)Cat>Tat p.H580Y KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.H530Y|KCNT2_uc001gtf.1_Missense_Mutation_p.H580Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.H580Y|KCNT2_uc001gth.1_Missense_Mutation_p.H101Y NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 580 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GAAGGTCCATGATAAAACGAC 0.294000 10 131 0 0 0.014410 0 0 OR1D2 4991 broad.mit.edu 37 17 2996105 2996105 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:2996105G>A uc010vrb.2 - 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 62 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GGTTGGCCAGGAAGAAGTACA 0.537000 90 53 0 0 0.014410 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940383 82940383 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:82940383C>T uc003kim.3 - 2 645 c.574G>A c.(574-576)Gac>Aac p.D192N HAPLN1_uc003kin.3_Missense_Mutation_p.D192N NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 192 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TACAGCTGGTCGAAGGAGGCG 0.592000 16 15 0 0 0.003163 0 0 FAM169A 26049 broad.mit.edu 37 5 74077563 74077563 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:74077563G>A uc003kdm.3 - 12 1778 c.1735C>T c.(1735-1737)Ccc>Tcc p.P579S FAM169A_uc010izm.3_Missense_Mutation_p.P519S|FAM169A_uc003kdl.3_Missense_Mutation_p.P397S NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 579 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GTTTCCTGGGGCTCAGATACC 0.458000 16 17 0 0 0.004007 0 0 CACNA1E 777 broad.mit.edu 37 1 181702848 181702848 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:181702848C>T uc009wxt.3 + 20 3419 c.3224C>T c.(3223-3225)cCc>cTc p.P1075L CACNA1E_uc001gow.3_Missense_Mutation_p.P1075L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1056L|CACNA1E_uc001gox.1_Missense_Mutation_p.P301L NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1075 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 GTCGCCATCCCCGACGTGGAC 0.652000 44 11 0 0 0.001855 0 0 FAM113B 91523 broad.mit.edu 37 12 47629524 47629524 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:47629524C>T uc001rpq.3 + 1 1203 c.678C>T c.(676-678)caC>caT p.H226H FAM113B_uc001rpn.3_Silent_p.H226H|FAM113B_uc021qxi.1_Silent_p.H226H NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 226 hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) AGAACCTGCACTGGGACGGGG 0.632000 7 6 0 0 0.001168 0 0 COL2A1 1280 broad.mit.edu 37 12 48374376 48374376 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:48374376G>A uc001rqu.3 - 38 2767 c.2586C>T c.(2584-2586)gcC>gcT p.A862A COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.A793A NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 862 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GAGGACCAGGGGCACCAGCAT 0.622000 8 3 0 0 0.000602 0 0 REG1A 5967 broad.mit.edu 37 2 79348011 79348011 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:79348011C>T uc010ysd.2 + 0 91 c.24C>T c.(22-24)ttC>ttT p.F8F REG1A_uc010ffx.1_Silent_p.F8F|REG1A_uc002snz.3_Silent_p.F8F NM_002909 NP_002900 P05451 REG1A_HUMAN Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA. 8 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.Y7*(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCTCATACTTCATGCTGATCT 0.463000 32 39 0 0 0.011902 0 0 SATB2 23314 broad.mit.edu 37 2 200213545 200213545 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:200213545G>A uc002uuy.2 - 6 1869 c.1052C>T c.(1051-1053)cCa>cTa p.P351L SATB2_uc010fsq.2_Missense_Mutation_p.P233L|SATB2_uc002uva.2_Missense_Mutation_p.P351L|SATB2_uc002uuz.2_Missense_Mutation_p.P351L|SATB2_uc002uvb.1_Missense_Mutation_p.P94L NM_001172509 NP_056080 Q9UPW6 SATB2_HUMAN Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA. 351 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGTTGGCTCTGGCTTAACTGC 0.537000 66 42 0 0 0.011902 0 0 SORL1 6653 broad.mit.edu 37 11 121384872 121384872 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:121384872C>T uc001pxx.3 + 7 1182 c.1053C>T c.(1051-1053)atC>atT p.I351I NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 351 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AATATTACATCGCAGATGCCT 0.438000 3 25 0 0 0.008361 0 0 ALPI 248 broad.mit.edu 37 2 233322730 233322730 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:233322730G>A uc002vst.4 + 7 956 c.879G>A c.(877-879)acG>acA p.T293T ALPI_uc002vsu.4_Silent_p.T204T NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 293 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCGGAGACACGAAATATGAGA 0.622000 28 22 0 0 0.003330 0 0 SOX17 64321 broad.mit.edu 37 8 55370970 55370970 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:55370970C>T uc003xsb.4 + 0 476 c.272C>T c.(271-273)cCa>cTa p.P91L NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA. 91 Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CAGCAGAATCCAGACCTGCAC 0.662000 19 17 0 0 0.008871 0 0 ALOX12B 242 broad.mit.edu 37 17 7984452 7984452 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:7984452C>T uc002gjy.1 - 2 667 c.406G>A c.(406-408)Gag>Aag p.E136K BC046191_uc010cnq.2_Non-coding_Transcript NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 136 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity p.E136delE(2) endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GCTCTGATCTCCTCTTTTCTG 0.632000 Multiple Myeloma(8;0.094) 23 9 0 0 0.013537 0 0 CSNK1A1P1 161635 broad.mit.edu 37 15 37110049 37110049 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:37110049C>T uc001zjg.4 - 0 c.659G>A Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA. AATTGGTCTTCGAGGCTAGGT 0.408000 13 9 0 0 0.004482 0 0 GLRB 2743 broad.mit.edu 37 4 158060056 158060056 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:158060056G>A uc003ipj.2 + 6 908 c.706G>A c.(706-708)Gaa>Aaa p.E236K GLRB_uc021xtp.1_Missense_Mutation_p.E236K|GLRB_uc021xtq.1_Missense_Mutation_p.E236K NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 236 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TATCAAAAAGGAAGATATTGA 0.299000 55 39 0 0 0.005524 0 0 EVPL 2125 broad.mit.edu 37 17 74004689 74004689 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:74004689C>T uc010wss.1 - 21 4891 c.4663G>A c.(4663-4665)Gaa>Aaa p.E1555K EVPL_uc002jqi.2_Missense_Mutation_p.E1533K|EVPL_uc010wst.1_Missense_Mutation_p.E1003K NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1533 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGCTCATCTTCCAGGACGCGG 0.642000 18 23 0 0 0.014323 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146741041 146741041 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:146741041G>A uc003weu.2 + 3 961 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 149 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.H148H(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGTCCGGCACGAATTACAGCA 0.423000 HNSCC(39;0.1) 103 35 0 0 0.003755 0 0 GFOD1 54438 broad.mit.edu 37 6 13365137 13365137 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:13365137G>A uc003nat.2 - 1 1758 c.1011C>T c.(1009-1011)ttC>ttT p.F337F GFOD1_uc021ylt.1_Silent_p.F234F|GFOD1_uc003nas.2_Silent_p.F234F NM_018988 NP_001229559 Q9NXC2 GFOD1_HUMAN Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA. 337 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GGCAGTCGTCGAAGGTGGCGG 0.657000 39 19 0 0 0.014323 0 0 GREM2 64388 broad.mit.edu 37 1 240656347 240656347 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:240656347G>A uc021plf.1 - 0 429 c.429C>T c.(427-429)ccC>ccT p.P143P GREM2_uc001hys.3_Silent_p.P143P NM_022469 NP_071914 Q9H772 GREM2_HUMAN Homo sapiens gremlin 2 (GREM2), mRNA. 143 CTCK. BMP signaling pathway extracellular space cytokine activity p.P142L(1)|p.P142T(1) endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) TGAGTCGGAAGGGTGGGTCCA 0.637000 1 107 0 0 0.014410 0 0 NGF 4803 broad.mit.edu 37 1 115829023 115829023 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:115829023C>T uc021osd.1 - 0 394 c.394G>A c.(394-396)Gaa>Aaa p.E132K NGF_uc001efu.1_Missense_Mutation_p.E132K NM_002506 NP_002497 P01138 NGF_HUMAN Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA. 132 Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling Golgi lumen|endosome growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) ACCGAGAATTCGCCCCTGTGG 0.567000 1 44 0 0 0.009718 0 0 FREM1 158326 broad.mit.edu 37 9 14797617 14797617 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:14797617C>T uc003zlm.3 - 21 4534 c.3718G>A c.(3718-3720)Gat>Aat p.D1240N FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1240 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCTGAGTCATCATGCATGTAC 0.353000 93 60 0 0 0.014410 0 0 VSX2 338917 broad.mit.edu 37 14 74707911 74707911 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:74707911C>T uc001xpq.3 + 1 487 c.397C>T c.(397-399)Cga>Tga p.R133* NM_182894 NP_878314 P58304 VSX2_HUMAN Homo sapiens visual system homeobox 2 (VSX2), mRNA. 133 Ser/Thr-rich. 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) CTCCAGCGATCGAAAAATGTC 0.597000 32 23 0 0 0.003954 0 0 DUOXA2 405753 broad.mit.edu 37 15 45408347 45408347 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:45408347C>T uc001zuo.3 + 2 512 c.231C>T c.(229-231)ttC>ttT p.F77F DUOX2_uc001zun.3_5'Flank|DUOX2_uc010bea.3_5'Flank|DUOXA2_uc010beb.3_Non-coding_Transcript NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA. 77 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CAGAATGGTTCGTGGGTACAG 0.552000 65 62 0 0 0.014410 0 0 RNF114 55905 broad.mit.edu 37 20 48562680 48562680 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:48562680C>T uc002xux.3 + 3 442 c.406C>T c.(406-408)Cca>Tca p.P136S RNF114_uc002xuy.3_Non-coding_Transcript NM_018683 NP_061153 Q9Y508 RN114_HUMAN Homo sapiens ring finger protein 114 (RNF114), mRNA. 136 cell differentiation|multicellular organismal development|spermatogenesis intracellular zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 CAGGAATGTTCCAAACCGTTA 0.408000 18 19 0 0 0.014323 0 0 OR1C1 26188 broad.mit.edu 37 1 247921673 247921673 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247921673G>A uc010pza.2 - 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_012353 NP_036485 Q15619 OR1C1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CCAGAAGGACGAATTCCCTGA 0.408000 39 18 0 0 0.007413 0 0 ABCC12 94160 broad.mit.edu 37 16 48167670 48167670 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:48167670G>A uc002efc.1 - 6 1402 c.1056C>T c.(1054-1056)atC>atT p.I352I ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.I352I|ABCC12_uc010vgj.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 352 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGGTGGACACGATGGGGGCCA 0.502000 35 20 0 0 0.007413 0 0 TLR2 7097 broad.mit.edu 37 4 154624805 154624805 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:154624805C>T uc003inq.3 + 2 965 c.746C>T c.(745-747)tCa>tTa p.S249L TLR2_uc003inr.3_Missense_Mutation_p.S249L|TLR2_uc003ins.3_Missense_Mutation_p.S249L|TLR2_uc021xtl.1_Missense_Mutation_p.S249L NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 249 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding p.S249L(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GAAACAAATTCATTGATTAAA 0.313000 25 23 0 0 0.014323 0 0 OR10A7 121364 broad.mit.edu 37 12 55615027 55615027 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:55615027C>T uc010spf.2 + 0 219 c.219C>T c.(217-219)ttC>ttT p.F73F NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 AAGTATGTTTCACCTTGGTTA 0.408000 81 70 0 0 0.014410 0 0 FGD2 221472 broad.mit.edu 37 6 36993601 36993601 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:36993601G>A uc010jwp.1 + 13 1663 c.1492G>A c.(1492-1494)Gaa>Aaa p.E498K FGD2_uc003ong.2_Missense_Mutation_p.E220K|FGD2_uc011dtv.1_Missense_Mutation_p.E126K|FGD2_uc003onj.1_Missense_Mutation_p.E75K NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 498 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.E498K(2) central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CTACCGGGCCGAACTGAAATA 0.622000 59 17 0 0 0.007413 0 0 PTPRT 11122 broad.mit.edu 37 20 40790031 40790031 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:40790031C>T uc002xkg.3 - 16 2827 c.2643G>A c.(2641-2643)atG>atA p.M881I PTPRT_uc010ggj.3_Missense_Mutation_p.M900I|PTPRT_uc010ggi.3_Missense_Mutation_p.M84I NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 881 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCCTCTCTTCATCTGCGTGA 0.562000 29 22 0 0 0.003330 0 0 PANX1 24145 broad.mit.edu 37 11 93912790 93912790 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:93912790C>T uc001per.3 + 3 953 c.568C>T c.(568-570)Cac>Tac p.H190Y PANX1_uc001peq.3_Missense_Mutation_p.H190Y NM_015368 NP_056183 Q96RD7 PANX1_HUMAN Homo sapiens pannexin 1 (PANX1), mRNA. 190 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATCTGAAAGCCACTTCAAGTA 0.353000 1 10 0 0 0.008291 0 0 CCDC150 284992 broad.mit.edu 37 2 197583330 197583330 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:197583330C>T uc002utp.1 + 17 2105 c.1970C>T c.(1969-1971)gCt>gTt p.A657V CCDC150_uc010zgs.1_Missense_Mutation_p.A304V|CCDC150_uc010zgt.1_Missense_Mutation_p.A74V|CCDC150_uc002utq.1_5'Flank|CCDC150_uc002utr.1_5'Flank NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA. 657 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GACCTCGAGGCTGTGGAGGAC 0.448000 39 27 0 0 0.008361 0 0 MYCBP2 23077 broad.mit.edu 37 13 77642939 77642939 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:77642939G>A uc021rks.1 - 69 12199 c.11932C>T c.(11932-11934)Cgc>Tgc p.R3978C MYCBP2_uc010aev.3_Missense_Mutation_p.R3344C|MYCBP2_uc001vke.3_Missense_Mutation_p.R557C NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 3940 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.R3978C(1)|p.R3940C(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTTCCATGCGAATAGCTTGG 0.388000 42 42 0 0 0.014410 0 0 PRSS58 136541 broad.mit.edu 37 7 141954960 141954960 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:141954960C>T uc003vxb.3 - 2 671 c.351G>A c.(349-351)gtG>gtA p.V117V PRSS58_uc003vxc.4_Silent_p.V117V NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN Homo sapiens protease, serine, 58 (PRSS58), mRNA. 117 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.Y116Y(1) kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TGGCTAATTTCACATAGTCAT 0.403000 84 40 0 0 0.006999 0 0 IL4 3565 broad.mit.edu 37 5 132018273 132018273 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:132018273G>A uc003kxk.1 + 3 826 c.456G>A c.(454-456)tcG>tcA p.S152S IL4_uc003kxl.1_Silent_p.S136S NM_000589 NP_000580 P05112 IL4_HUMAN Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA. 152 B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding p.S152L(1) NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CAAAGTGTTCGAGCTGAATAT 0.299000 18 16 0 0 0.004990 0 0 C2orf53 339779 broad.mit.edu 37 2 27360137 27360137 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:27360137G>A uc002rjb.2 - 2 1641 c.1061C>T c.(1060-1062)cCc>cTc p.P354L PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.P354L NM_178553 NP_848648 Q53SZ7 CB053_HUMAN Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA. 354 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCTGGGAGGGTGTGCCTGG 0.632000 44 42 0 0 0.011902 0 0 HEPHL1 341208 broad.mit.edu 37 11 93754684 93754684 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:93754684G>A uc001pep.2 + 0 307 c.150G>A c.(148-150)ggG>ggA p.G50G NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 50 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTATTACTGGGAAAAGTTTCA 0.453000 3 48 0 0 0.014410 0 0 OR8S1 341568 broad.mit.edu 37 12 48919622 48919622 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:48919622G>A uc010slu.2 + 0 208 c.208G>A c.(208-210)Gat>Aat p.D70N NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CTCTTTTGTTGATCTCTGCTT 0.478000 45 64 0 0 0.014410 0 0 MDH1B 130752 broad.mit.edu 37 2 207611011 207611011 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:207611011C>T uc002vbs.3 - 8 1411 c.1356_splice c.e8+1 p.Q452_splice MDH1B_uc010ziw.2_Splice_Site|MDH1B_uc002vbt.3_Splice_Site|MDH1B_uc010fui.3_Splice_Site_p.Q452_splice|MDH1B_uc021vvm.1_Splice_Site_p.Q354_splice NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA. 452 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) CTGACATTACCTGAATTAGAT 0.368000 36 22 0 0 0.003330 0 0 DMD 1756 broad.mit.edu 37 X 31165473 31165473 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:31165473C>T uc004dda.1 - 74 10960 c.10716G>A c.(10714-10716)ctG>ctA p.L3572L DMD_uc004dcq.1_Silent_p.L843L|DMD_uc004dcr.1_Silent_p.L1002L|DMD_uc004dcs.1_Silent_p.L1002L|DMD_uc004dct.1_Silent_p.L1112L|DMD_uc004dcu.1_Silent_p.L1112L|DMD_uc004dcv.1_Silent_p.L1099L|DMD_uc004dcw.2_Silent_p.L2228L|DMD_uc004dcx.2_Silent_p.L2231L|DMD_uc004dcz.2_Silent_p.L3449L|DMD_uc004dcy.1_Silent_p.L3568L|DMD_uc004ddb.1_Silent_p.L3564L|DMD_uc004dcp.1_Silent_p.L491L|DMD_uc011mkb.1_Silent_p.L394L|DMD_uc004dcm.1_Silent_p.L504L|DMD_uc004dcn.1_Silent_p.L491L|DMD_uc004dco.1_Silent_p.L504L NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3572 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCTGGCTTCCAGGCGGCCTT 0.562000 31 34 0 0 0.013726 0 0 MEI1 150365 broad.mit.edu 37 22 42166941 42166941 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:42166941C>T uc003baz.1 + 19 2545 c.2520C>T c.(2518-2520)atC>atT p.I840I bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.I226I|MEI1_uc003bbc.1_Silent_p.I208I|MEI1_uc010gym.1_Silent_p.I208I|MEI1_uc003bbd.1_Silent_p.I83I NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN Homo sapiens meiosis inhibitor 1 (MEI1), mRNA. 840 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TCAGAAGCATCCCCAGCATCC 0.532000 66 60 0 0 0.014410 0 0 DNAH11 8701 broad.mit.edu 37 7 21628935 21628935 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:21628935G>A uc003svc.3 + 11 2114 c.2083G>A c.(2083-2085)Gat>Aat p.D695N NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 695 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 AAGTAATGTGGATGAAATCTG 0.338000 Kartagener syndrome 96 93 0 0 0.014410 0 0 FUT6 2528 broad.mit.edu 37 19 5832373 5832373 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:5832373C>T uc002mdf.1 - 3 732 c.206G>A c.(205-207)tGg>tAg p.W69* FUT6_uc021unl.1_Nonsense_Mutation_p.W69*|FUT6_uc002mdg.1_Nonsense_Mutation_p.W69*|FUT6_uc002mdh.1_Nonsense_Mutation_p.W69*|FUT6_uc021unm.1_Nonsense_Mutation_p.W69* NM_001040701 NP_001035791 P51993 FUT6_HUMAN Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA. 69 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 GTTAAAAGGCCACGTCCACAG 0.602000 28 15 0 0 0.003163 0 0 TNR 7143 broad.mit.edu 37 1 175365852 175365852 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:175365852C>T uc001gkp.1 - 2 1149 c.1068G>A c.(1066-1068)gtG>gtA p.V356V TNR_uc009wwu.1_Silent_p.V356V|TNR_uc010pmz.1_Intron NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 356 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGTAAGAGATCACATATTCCG 0.622000 134 28 0 0 0.008361 0 0 SCN3A 6328 broad.mit.edu 37 2 166011151 166011151 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:166011151C>T uc002ucx.3 - 10 1683 c.1191G>A c.(1189-1191)ggG>ggA p.G397G SCN3A_uc002ucy.3_Silent_p.G397G|SCN3A_uc002ucz.3_Silent_p.G397G|SCN3A_uc002uda.1_Silent_p.G266G|SCN3A_uc002udb.1_Silent_p.G266G NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 397 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) TGTATGTTTTCCCAGCAGCAC 0.398000 31 24 0 0 0.006320 0 0 ZNF99 7652 broad.mit.edu 37 19 22941304 22941304 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:22941304T>G uc021urt.1 - 3 1562 c.1407A>C c.(1405-1407)agA>agC p.R469S NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTCATGTTTTCTAAGGGCTG 0.353000 36 25 0 0 0.003954 0 0 MYH13 8735 broad.mit.edu 37 17 10212982 10212982 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:10212982C>T uc002gmk.1 - 33 4912 c.4822G>A c.(4822-4824)Gaa>Aaa p.E1608K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1608 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGCGGATTTCAGCATCCAGC 0.557000 13 8 0 0 0.003080 0 0 MKS1 54903 broad.mit.edu 37 17 56291646 56291646 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:56291646G>A uc002ivr.2 - 5 693 c.618C>T c.(616-618)atC>atT p.I206I MKS1_uc010wnq.2_Silent_p.I3I|MKS1_uc021uam.1_Silent_p.I196I NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA. 206 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGTCTGCCATGATGTGCATTG 0.532000 32 35 0 0 0.004289 0 0 UNC79 57578 broad.mit.edu 37 14 94048633 94048633 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:94048633C>T uc001ybv.1 + 16 2298 c.2215C>T c.(2215-2217)Cct>Tct p.P739S UNC79_uc001ybs.1_Missense_Mutation_p.P739S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 916 integral to membrane p.V738V(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGAGGAGAATCCTGCAAGCAA 0.572000 24 11 0 0 0.010729 0 0 ST18 9705 broad.mit.edu 37 8 53084939 53084939 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:53084939C>T uc003xqz.2 - 4 638 c.482G>A c.(481-483)aGc>aAc p.S161N ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.S126N|ST18_uc011lds.1_Missense_Mutation_p.S66N|ST18_uc003xra.2_Missense_Mutation_p.S161N|ST18_uc003xrb.2_Missense_Mutation_p.S161N NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 161 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGCTTCATCGCTCTCTGCTTT 0.388000 49 40 0 0 0.009718 0 0 OR7A10 390892 broad.mit.edu 37 19 14952516 14952516 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:14952516G>A uc002mzx.1 - 0 174 c.174C>T c.(172-174)ccC>ccT p.P58P NM_001005190 NP_001005190 O76100 OR7AA_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) AGAAGTACATGGGGGTGTGGA 0.522000 42 19 0 0 0.012319 0 0 GPR61 83873 broad.mit.edu 37 1 110086229 110086229 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:110086229T>C uc021orh.1 + 0 585 c.585T>C c.(583-585)tgT>tgC p.C195C GPR61_uc001dxy.2_Silent_p.C195C NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA. 195 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CCCCAGGCTGTTCACTCCAGT 0.572000 0 63 0 0 0.014410 0 0 OR11A1 26531 broad.mit.edu 37 6 29394864 29394864 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:29394864G>A uc003nmg.3 - 0 646 c.555C>T c.(553-555)ttC>ttT p.F185F NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA. 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F185F(2) cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 CCAGGCCCACGAAAAGCATAA 0.512000 26 11 0 0 0.008291 0 0 MAS1L 116511 broad.mit.edu 37 6 29455614 29455614 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:29455614C>T uc011dlq.2 - 0 66 c.66G>A c.(64-66)caG>caA p.Q22Q NM_052967 NP_443199 P35410 MAS1L_HUMAN Homo sapiens MAS1 oncogene-like (MAS1L), mRNA. 22 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 AGAGAGATATCTGTGACTCAG 0.522000 18 45 0 0 0.014410 0 0 ATP9B 374868 broad.mit.edu 37 18 77137262 77137262 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:77137262C>T uc002lmx.3 + 29 3337 c.3323C>T c.(3322-3324)aCc>aTc p.T1108I ATP9B_uc002lmw.1_Missense_Mutation_p.T1097I|ATP9B_uc002lna.3_Missense_Mutation_p.T123I|ATP9B_uc010drb.3_Non-coding_Transcript NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 1108 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GCCTTTATCACCACCGTGACC 0.577000 57 41 0 0 0.014410 0 0 TMED10P1 286102 broad.mit.edu 37 8 146220637 146220637 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:146220637G>A uc003zey.3 + 0 387 c.366G>A c.(364-366)gtG>gtA p.V122V ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA. ACCAACTTGTGATCCTAGACA 0.423000 38 30 0 0 0.013726 0 0 WDR41 55255 broad.mit.edu 37 5 76754909 76754909 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:76754909G>A uc003kff.1 - 4 676 c.389C>T c.(388-390)tCa>tTa p.S130L WDR41_uc011csy.1_Missense_Mutation_p.S130L|WDR41_uc011csz.1_Missense_Mutation_p.S75L|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN Homo sapiens WD repeat domain 41 (WDR41), mRNA. 130 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) CTGGAAGCATGATATTCTCTG 0.279000 53 54 0 0 0.014410 0 0 GPR112 139378 broad.mit.edu 37 X 135431967 135431967 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:135431967A>G uc004ezu.1 + 5 6393 c.6102A>G c.(6100-6102)acA>acG p.T2034T GPR112_uc010nsb.1_Silent_p.T1829T|GPR112_uc010nsc.1_Silent_p.T1801T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2034 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCCTCTACAGTAGAGGTGT 0.453000 121 46 0 0 0.014410 0 0 EIF5A2 56648 broad.mit.edu 37 3 170625451 170625451 + Missense_Mutation SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:170625451C>G uc003fhd.3 - 1 275 c.145G>C c.(145-147)Gga>Cga p.G49R NM_020390 NP_065123 Q9GZV4 IF5A2_HUMAN Homo sapiens eukaryotic translation initiation factor 5A2 (EIF5A2), mRNA. 49 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) CCATGCTTTCCAGTTTTGGAA 0.478000 77 72 0 0 0.014410 0 0 ACO1 48 broad.mit.edu 37 9 32419074 32419074 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:32419074C>T uc003zqw.4 + 6 852 c.697C>T c.(697-699)Cag>Tag p.Q233* ACO1_uc010mjh.1_Nonsense_Mutation_p.Q67*|ACO1_uc003zqx.4_Nonsense_Mutation_p.Q233*|ACO1_uc003zqy.4_Non-coding_Transcript NM_002197 NP_002188 P21399 ACOC_HUMAN Homo sapiens aconitase 1, soluble (ACO1), mRNA. 233 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle Golgi apparatus|cytosol|endoplasmic reticulum 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CATGCTGGGTCAGCCAATCAG 0.512000 21 22 0 0 0.012319 0 0 UGGT2 55757 broad.mit.edu 37 13 96553067 96553067 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:96553067A>G uc001vmt.3 - 21 2798 c.2628T>C c.(2626-2628)aaT>aaC p.N876N NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA. 876 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTACTCTCCCATTGCTGACAA 0.393000 39 26 0 0 0.010818 0 0 GPR98 84059 broad.mit.edu 37 5 90079760 90079760 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:90079760C>T uc003kju.3 + 66 13635 c.13539C>T c.(13537-13539)ccC>ccT p.P4513P GPR98_uc003kjt.3_Silent_p.P2219P|GPR98_uc003kjw.3_Silent_p.P174P NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4513 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTGACTCTCCCTTTGGAGTTA 0.453000 7 7 0 0 0.001984 0 0 PRR4 11272 broad.mit.edu 37 12 10999761 10999761 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:10999761G>A uc001qyz.4 - 2 345 c.306C>T c.(304-306)ctC>ctT p.L102L PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron NM_007244 NP_009175 Q16378 PROL4_HUMAN Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA. 102 visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 GGGGTAGAGAGAGTTGACGGT 0.552000 62 51 0 0 0.014410 0 0 SYTL1 84958 broad.mit.edu 37 1 27680248 27680248 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:27680248G>A uc001bnw.2 + 14 1791 c.1594G>A c.(1594-1596)Gag>Aag p.E532K SYTL1_uc001bnv.2_Missense_Mutation_p.E520K|SYTL1_uc009vsv.2_Missense_Mutation_p.E532K NM_001193308 NP_001180237 Q8IYJ3 SYTL1_HUMAN Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA. 532 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction Rab GTPase binding|neurexin binding p.E520K(1) NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTCCACACCTGAGGAGAAGCA 0.637000 1 28 0 0 0.005443 0 0 C8orf76 84933 broad.mit.edu 37 8 124243746 124243746 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:124243746G>A uc003yqc.2 - 3 661 c.609C>T c.(607-609)tcC>tcT p.S203S C8orf76_uc003yqd.3_Silent_p.S171S NM_032847 NP_116236 Q96K31 CH076_HUMAN Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA. 203 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GTGGAAAGAAGGATTTGATAG 0.448000 59 45 0 0 0.010771 0 0 GRM6 2916 broad.mit.edu 37 5 178410150 178410150 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:178410150C>T uc003mjr.3 - 8 2376 c.2197G>A c.(2197-2199)Gtg>Atg p.V733M GRM6_uc003mjq.3_Missense_Mutation_p.V136M NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 733 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TCGGGGTCCACCGTCCGCTGT 0.627000 11 25 0 0 0.006320 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685969 108685969 + Missense_Mutation SNP C A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:108685969C>A uc009zuw.3 - 2 962 c.771G>T c.(769-771)aaG>aaT p.K257N CMKLR1_uc001tmw.3_Missense_Mutation_p.K257N|CMKLR1_uc001tmv.3_Missense_Mutation_p.K255N|CMKLR1_uc009zuv.3_Missense_Mutation_p.K257N|CMKLR1_uc021rdj.1_Missense_Mutation_p.K255N NM_001142345 NP_004063 Q99788 CML1_HUMAN Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA. 257 chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 TCTTGAAGGGCTTCTTGGTCT 0.547000 33 16 0.00498961 0.00671325 0.004990 1 0 C6orf165 154313 broad.mit.edu 37 6 88126407 88126407 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:88126407C>T uc003plv.3 + 5 616 c.493C>T c.(493-495)Cct>Tct p.P165S C6orf165_uc003plu.2_Missense_Mutation_p.P165S|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 165 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GAGTGTTTTTCCTCAGGCAGA 0.328000 3 20 0 0 0.003330 0 0 SLC9C2 284525 broad.mit.edu 37 1 173490494 173490494 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:173490494A>C uc001giz.2 - 21 3108 c.2685T>G c.(2683-2685)tgT>tgG p.C895W SLC9C2_uc009wwe.2_Missense_Mutation_p.C453W NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 895 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CACCTCCTTTACAAATGGTAT 0.323000 4 84 0 0 0.014410 0 0 TEX14 56155 broad.mit.edu 37 17 56676453 56676453 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:56676453G>A uc010dcz.2 - 13 2389 c.2271C>T c.(2269-2271)atC>atT p.I757I TEX14_uc002iwr.2_Silent_p.I751I|TEX14_uc002iws.2_Silent_p.I751I|TEX14_uc010dda.2_Silent_p.I531I NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 757 cytoplasm ATP binding|protein kinase activity p.D756H(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATATCTGCTCGATATTCCTCA 0.418000 81 58 0 0 0.014410 0 0 DHX40 79665 broad.mit.edu 37 17 57682819 57682819 + Nonsense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:57682819G>T uc002ixn.2 + 16 2131 c.1984G>T c.(1984-1986)Gaa>Taa p.E662* DHX40_uc010woe.2_Nonsense_Mutation_p.E585*|DHX40_uc010wof.2_Nonsense_Mutation_p.E177* NM_024612 NP_078888 Q8IX18 DHX40_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA. 662 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TCATGAACAGGAAACCAAACT 0.363000 14 17 9.7654e-05 0.00013157 0.007413 1 0 SLX4 84464 broad.mit.edu 37 16 3652243 3652243 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3652243A>G uc002cvp.2 - 3 1453 c.826T>C c.(826-828)Ttt>Ctt p.F276L SLX4_uc002cvq.1_Missense_Mutation_p.F276L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 276 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ACCCGTGCAAACTCCTGCTGC 0.547000 Direct reversal of damage 57 43 0 0 0.013114 0 0 TTN 7273 broad.mit.edu 37 2 179648923 179648923 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179648923G>A uc021vsy.1 - 15 2874 c.2649C>T c.(2647-2649)ttC>ttT p.F883F TTN_uc021vsz.1_Silent_p.F837F|TTN_uc021vta.1_Silent_p.F837F|TTN_uc021vtb.1_Silent_p.F837F|TTN_uc002unb.2_Silent_p.F883F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 883 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) GTGTGTCAGCGAAGGGGAACT 0.537000 45 30 0 0 0.013726 0 0 ANXA4 307 broad.mit.edu 37 2 70037755 70037755 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:70037755C>T uc010yqo.2 + 6 689 c.175C>T c.(175-177)Cgc>Tgc p.R59C ANXA4_uc010yqn.1_Non-coding_Transcript|ANXA4_uc002sfr.4_Missense_Mutation_p.R143C|ANXA4_uc002sfs.4_Missense_Mutation_p.R121C NM_001153 NP_001144 P09525 ANXA4_HUMAN Homo sapiens annexin A4 (ANXA4), mRNA. 141 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 AGATGACATTCGCTCTGACAC 0.488000 39 27 0 0 0.012213 0 0 CLCA4 22802 broad.mit.edu 37 1 87043668 87043668 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:87043668C>T uc009wcs.3 + 11 2079 c.2035C>T c.(2035-2037)Cgg>Tgg p.R679W CLCA4_uc009wct.3_Missense_Mutation_p.R442W|CLCA4_uc009wcu.3_Missense_Mutation_p.R499W NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA. 679 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity p.R679W(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CTTAAAAGTTCGGGCTCATGG 0.438000 3 31 0 0 0.013726 0 0 FAM131B 9715 broad.mit.edu 37 7 143056116 143056116 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143056116C>T uc010lpa.3 - 5 413 c.269_splice c.e5-1 p.G90_splice FAM131B_uc010loz.3_Splice_Site_p.G30_splice|FAM131B_uc003wct.3_Splice_Site_p.G62_splice|FAM131B_uc003wcu.4_Splice_Site_p.G62_splice|ZYX_uc011ktd.2_5'Flank NM_001031690 NP_055505 Q86XD5 F131B_HUMAN Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA. 62 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCCGTGAGATCCCTATGGGGC 0.587000 12 6 0 0 0.001984 0 0 TBC1D4 9882 broad.mit.edu 37 13 75863085 75863085 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:75863085G>A uc001vjl.1 - 19 3995 c.3648C>T c.(3646-3648)ctC>ctT p.L1216L TBC1D4_uc010tht.1_Silent_p.L426L|TBC1D4_uc010thu.1_Silent_p.L373L|TBC1D4_uc010aer.2_Silent_p.L1208L|TBC1D4_uc010aes.2_Silent_p.L1153L NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 1216 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ATTTTTCTAGGAGGTCCATGT 0.408000 48 40 0 0 0.009718 0 0 OR51I2 390064 broad.mit.edu 37 11 5475583 5475583 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5475583C>T uc010qzf.2 + 0 946 c.865C>T c.(865-867)Cct>Tct p.P289S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA. 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGCTCAACCCTCTCATTTA 0.463000 80 68 0 0 0.014410 0 0 C9orf171 389799 broad.mit.edu 37 9 135374155 135374155 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:135374155G>A uc004cbn.3 + 2 425 c.377G>A c.(376-378)cGa>cAa p.R126Q C9orf171_uc004cbo.3_Missense_Mutation_p.R90Q NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA. 126 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CTCTACATCCGAGGGCTTGAC 0.577000 0 10 0 0 0.008291 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33802058 33802058 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:33802058C>T uc002hjn.3 - 4 2452 c.1738G>A c.(1738-1740)Gac>Aac p.D580N SLFN12L_uc021tuy.1_Missense_Mutation_p.D551N NM_001195790 NP_001182719 Q6IEE8 SN12L_HUMAN Homo sapiens schlafen family member 12-like (SLFN12L), mRNA. 583 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TTTTCCAAGTCTTTCATTGTT 0.363000 6 13 0 0 0.013537 0 0 PRPF8 10594 broad.mit.edu 37 17 1586852 1586852 + Missense_Mutation SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:1586852G>T uc002fte.3 - 2 358 c.244C>A c.(244-246)Cgc>Agc p.R82S NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 82 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTGTCATGGCGGAACTTCCTG 0.478000 81 5 0.00307968 0.00414545 0.003080 1 0 TAF1L 138474 broad.mit.edu 37 9 32635000 32635000 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:32635000G>A uc003zrg.1 - 0 668 c.578C>T c.(577-579)tCc>tTc p.S193F AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 193 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGCCAAAAAGGAAGGGGCAAT 0.478000 32 26 0 0 0.005443 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102526558 102526558 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:102526558C>T uc003kod.4 + 28 3887 c.3368C>T c.(3367-3369)tCc>tTc p.S1123F PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.S1102F|PPIP5K2_uc003kof.3_Missense_Mutation_p.S305F NM_015216 NP_056031 O43314 VIP2_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA. 1123 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GAATTGTATTCCATGGTGCCA 0.328000 34 15 0 0 0.004007 0 0 DLG3 1741 broad.mit.edu 37 X 69669618 69669618 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:69669618G>A uc004dyi.2 + 3 959 c.612G>A c.(610-612)aaG>aaA p.K204K U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank NM_021120 NP_066943 Q92796 DLG3_HUMAN Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA. 204 PDZ 1. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) AGGCGCTGAAGGAGGCAGGCC 0.657000 12 12 0 0 0.002450 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706011 92706011 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:92706011C>T uc002bqx.2 + 9 1980 c.1779C>T c.(1777-1779)ttC>ttT p.F593F SLCO3A1_uc002bqy.2_Silent_p.F593F|SLCO3A1_uc002bqz.1_Silent_p.F535F NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 593 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CCCTCATCTTCGGGGCTGGCA 0.567000 30 33 0 0 0.003755 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296687 28296687 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:28296687C>T uc002ymg.3 - 7 3207 c.2478G>A c.(2476-2478)acG>acA p.T826T NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 826 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.T826M(1) 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 GAATTTCCTTCGTGGCAGAGT 0.443000 65 59 0 0 0.014410 0 0 AKR1C4 1109 broad.mit.edu 37 10 5248263 5248263 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:5248263G>A uc001ihw.2 + 4 506 c.473G>A c.(472-474)gGa>gAa p.G158E NM_001818 NP_001809 P17516 AK1C4_HUMAN Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA. 158 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) AAGGATGCAGGATTGGCCAAG 0.488000 36 38 0 0 0.004878 0 0 PCDH15 65217 broad.mit.edu 37 10 55569229 55569229 + Silent SNP G A A rs12359240 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:55569229G>A uc021pqw.1 - 35 4985 c.4590C>T c.(4588-4590)atC>atT p.I1530I PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.I1525I|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.K1530N(1)|p.K1530_E1531>N*(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTGGTTTTTCGATAGTTACAA 0.368000 HNSCC(58;0.16) 125 92 0 0 0.014410 0 0 GPR64 10149 broad.mit.edu 37 X 19027767 19027767 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:19027767C>T uc004cyx.3 - 17 1641 c.1399G>A c.(1399-1401)Gcc>Acc p.A467T GPR64_uc004cze.3_Missense_Mutation_p.A437T|GPR64_uc004cza.3_Missense_Mutation_p.A445T|GPR64_uc004czf.3_Missense_Mutation_p.A429T|GPR64_uc004cyy.3_Missense_Mutation_p.A464T|GPR64_uc004czc.3_Missense_Mutation_p.A451T|GPR64_uc004cyz.3_Missense_Mutation_p.A453T|GPR64_uc004czb.3_Missense_Mutation_p.A467T|GPR64_uc004czd.3_Missense_Mutation_p.A443T|GPR64_uc004cyw.3_Missense_Mutation_p.A451T|GPR64_uc010nfj.3_Missense_Mutation_p.A437T NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA. 467 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GGGTCTTGGGCCACAAAGGTA 0.423000 44 32 0 0 0.004289 0 0 TMEM95 339168 broad.mit.edu 37 17 7259169 7259169 + Missense_Mutation SNP C T T rs139214770 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:7259169C>T uc002ggg.1 + 2 266 c.239C>T c.(238-240)gCt>gTt p.A80V TMEM95_uc002ggf.1_Missense_Mutation_p.A80V|TMEM95_uc002ggh.1_Missense_Mutation_p.A80V Q3KNT9 TMM95_HUMAN Homo sapiens transmembrane protein 95 (TMEM95), mRNA. 80 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) ATCAAAGAGGCTGTCTCCTCA 0.607000 OREG0024137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 20 0 0 0.012319 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86569381 86569381 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:86569381G>A uc011kha.2 - 5 977 c.792C>T c.(790-792)atC>atT p.I264I KIAA1324L_uc003uie.3_Silent_p.I97I|KIAA1324L_uc011kgz.2_Silent_p.I150I|KIAA1324L_uc003uif.2_Silent_p.I16I NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 264 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) AACCCATAAGGATGCCTGTAG 0.408000 36 71 0 0 0.014410 0 0 ODZ3 55714 broad.mit.edu 37 4 183635383 183635383 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:183635383G>A uc003ivd.1 + 11 2440 c.2365G>A c.(2365-2367)Gga>Aga p.G789R ODZ3_uc003ive.1_Missense_Mutation_p.G195R NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 789 signal transduction integral to membrane p.G789V(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGACAATGAAGGAGGTAAGAA 0.463000 11 10 0 0 0.006214 0 0 ELN 2006 broad.mit.edu 37 7 73474738 73474738 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:73474738G>A uc003tzw.3 + 24 1763 c.1672G>A c.(1672-1674)Gga>Aga p.G558R ELN_uc003tzn.3_Missense_Mutation_p.G552R|ELN_uc003tzy.3_Missense_Mutation_p.G528R|ELN_uc003tzz.3_Missense_Mutation_p.G471R|ELN_uc003tzo.3_Missense_Mutation_p.G504R|ELN_uc003tzp.3_Missense_Mutation_p.G463R|ELN_uc003tzq.3_Missense_Mutation_p.G416R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G533R|ELN_uc003tzt.3_Missense_Mutation_p.G557R|ELN_uc003tzu.3_Missense_Mutation_p.G538R|ELN_uc003tzv.3_Missense_Mutation_p.G523R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G542R|ELN_uc011kff.2_Missense_Mutation_p.G552R NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 581 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding p.G558S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCATCCCTGGACTTGGAGT 0.632000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 65 27 0 0 0.006320 0 0 MKL1 57591 broad.mit.edu 37 22 40827451 40827451 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:40827451G>A uc003ayv.1 - 2 304 c.97C>T c.(97-99)Cgg>Tgg p.R33W MKL1_uc010gyf.1_Missense_Mutation_p.R33W|MKL1_uc003ayw.1_Missense_Mutation_p.R33W|MKL1_uc010gye.1_Missense_Mutation_p.R33W NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 33 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 CTCTCCGGCCGGGAACGAATC 0.473000 T RBM15 acute megakaryocytic leukemia 109 92 0 0 0.014410 0 0 CCDC63 160762 broad.mit.edu 37 12 111321968 111321968 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:111321968G>A uc001trv.1 + 7 1183 c.988G>A c.(988-990)Gag>Aag p.E330K CCDC63_uc010sye.1_Missense_Mutation_p.E290K|CCDC63_uc001trw.1_Missense_Mutation_p.E245K NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 330 p.K329T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCTGGCCAAGGAGGAGAAGAA 0.532000 31 28 0 0 0.007291 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924119 45924119 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:45924119C>T uc001nbr.3 + 4 1126 c.801C>T c.(799-801)atC>atT p.I267I NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 267 JNK-binding domain (JBD). vesicle-mediated transport nucleus|perinuclear region of cytoplasm MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GAGACCGAATCCACTACCAGG 0.687000 12 9 0 0 0.006214 0 0 CPS1 1373 broad.mit.edu 37 2 211456679 211456679 + Missense_Mutation SNP G A A rs149930500 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:211456679G>A uc010fur.3 + 10 1172 c.1090G>A c.(1090-1092)Gat>Aat p.D364N CPS1_uc002vee.4_Missense_Mutation_p.D358N|CPS1_uc010fus.3_5'Flank NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 358 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAATGTCAACGATCAAACAAA 0.378000 17 15 0 0 0.008871 0 0 MEOX2 4223 broad.mit.edu 37 7 15652161 15652161 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:15652161C>T uc003stc.3 - 2 1047 c.766G>A c.(766-768)Gaa>Aaa p.E256K NM_005924 NP_005915 P50222 MEOX2_HUMAN Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA. 256 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R255R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) AGTTCCTTTTCCCGAGCCGCA 0.507000 96 54 0 0 0.014410 0 0 PZP 5858 broad.mit.edu 37 12 9322148 9322148 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:9322148G>A uc001qvl.3 - 15 1908 c.1879C>T c.(1879-1881)Cct>Tct p.P627S PZP_uc009zgl.3_Missense_Mutation_p.P496S|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. p.P627S(2)|p.P496S(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ACATTGTCAGGAAAATTGGTG 0.418000 30 13 0 0 0.013537 0 0 PXDNL 137902 broad.mit.edu 37 8 52284457 52284457 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:52284457G>A uc003xqu.4 - 18 3978 c.3877C>T c.(3877-3879)Cga>Tga p.R1293* PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1293 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCCACACTCGCAGGTCCACC 0.473000 17 10 0 0 0.008291 0 0 CCDC6 8030 broad.mit.edu 37 10 61552677 61552677 + Nonstop_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:61552677A>G uc001jks.4 - 8 1655 c.1423T>C c.(1423-1425)Taa>Caa p.*475Q NM_005436 NP_005427 Q16204 CCDC6_HUMAN Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA. 0 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CTCATGCATTAAGGCTGGGAG 0.562000 T RET NSCLC 73 45 0 0 0.014410 0 0 C6orf195 154386 broad.mit.edu 37 6 2623697 2623697 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:2623697C>T uc003mtw.2 - 2 1345 c.360G>A c.(358-360)agG>agA p.R120R C6orf195_uc021ykp.1_Silent_p.R120R NM_152554 NP_689767 Q96MT4 CF195_HUMAN Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA. 120 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) TGCTAATCTCCCTCTGACGGA 0.488000 43 17 0 0 0.007413 0 0 LAMP3 27074 broad.mit.edu 37 3 182871954 182871954 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:182871954T>A uc003flh.4 - 1 499 c.275A>T c.(274-276)aAa>aTa p.K92I NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA. 92 Thr-rich. cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TGCAGTGTTTTTTGTAGTCGC 0.483000 48 36 0 0 0.004289 0 0 ANKRD22 118932 broad.mit.edu 37 10 90591670 90591670 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:90591670G>A uc001kfj.4 - 1 503 c.135C>T c.(133-135)atC>atT p.I45I NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA. 45 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) TGCAAGCACAGATCAGGGGCG 0.473000 128 113 0 0 0.014410 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112015767 112015767 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:112015767C>T uc004bdz.1 - 11 1528 c.1233G>A c.(1231-1233)agG>agA p.R411R EPB41L4B_uc004bea.3_Silent_p.R411R NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 411 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TACTAGGCTTCCTCTCAAAGG 0.398000 13 60 0 0 0.014410 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801744 185801744 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:185801744A>T uc002uph.3 + 3 2215 c.1621A>T c.(1621-1623)Aat>Tat p.N541Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 541 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 TTCTGGAAAAAATGAGAACAC 0.338000 24 21 0 0 0.012319 0 0 ABHD1 84696 broad.mit.edu 37 2 27352206 27352206 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:27352206G>A uc002rit.3 + 3 641 c.481G>A c.(481-483)Ggc>Agc p.G161S ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Intron NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA. 161 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAACAACCGGGGCTGCCGTGG 0.577000 27 18 0 0 0.010504 0 0 CATSPERB 79820 broad.mit.edu 37 14 92076898 92076898 + Missense_Mutation SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:92076898A>C uc001xzs.1 - 20 2664 c.2524T>G c.(2524-2526)Ttt>Gtt p.F842V CATSPERB_uc010aub.1_Missense_Mutation_p.F364V NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 842 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATGGGATAAATTTGCTAGGA 0.378000 42 25 0 0 0.003954 0 0 DDX51 317781 broad.mit.edu 37 12 132625406 132625406 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:132625406C>T uc001ujy.4 - 8 1449 c.1410G>A c.(1408-1410)tcG>tcA p.S470S NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA. 470 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) CATACTTCCCCGAATCCCCGT 0.617000 32 26 0 0 0.008361 0 0 NPAS4 266743 broad.mit.edu 37 11 66192549 66192549 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:66192549G>A uc001ohx.1 + 6 2364 c.2188G>A c.(2188-2190)Gat>Aat p.D730N NPAS4_uc010rpc.1_Missense_Mutation_p.D520N NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 730 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GGGCTCAGGGGATCCTGAGGC 0.592000 23 21 0 0 0.014323 0 0 TIMP4 7079 broad.mit.edu 37 3 12195141 12195141 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:12195141C>T uc003bwo.3 - 4 1060 c.549G>A c.(547-549)ttG>ttA p.L183L SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA. 183 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 GCTTTCGTTCCAACAGCCAGT 0.537000 201 187 0 0 0.014410 0 0 FGF3 2248 broad.mit.edu 37 11 69625228 69625228 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:69625228C>T uc001oph.3 - 2 1056 c.565G>A c.(565-567)Gag>Aag p.E189K NM_005247 NP_005238 P11487 FGF3_HUMAN Homo sapiens fibroblast growth factor 3 (FGF3), mRNA. 189 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CGCACCATCTCGTGGTCCCTG 0.692000 3 8 0 0 0.006214 0 0 IARS 3376 broad.mit.edu 37 9 95043111 95043111 + Missense_Mutation SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:95043111A>G uc004art.1 - 6 919 c.662T>C c.(661-663)gTt>gCt p.V221A IARS_uc004ars.1_Missense_Mutation_p.V66A|IARS_uc004aru.3_Missense_Mutation_p.V221A|IARS_uc010mqr.2_Missense_Mutation_p.V111A|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA. 221 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TGTCCAAGCAACTAAAGATAC 0.368000 1 24 0 0 0.003954 0 0 FCGBP 8857 broad.mit.edu 37 19 40363084 40363084 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:40363084C>T uc002omp.4 - 31 14994 c.14986G>A c.(14986-14988)Gac>Aac p.D4996N NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4996 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGACAAAGTCGTCACTCCAG 0.642000 17 7 0 0 0.003080 0 0 RPS18 6222 broad.mit.edu 37 6 33240417 33240417 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:33240417C>T uc003odp.1 + 1 61 c.16C>T c.(16-18)Cct>Tct p.P6S VPS52_uc003odm.1_5'Flank|VPS52_uc003odn.1_5'Flank|VPS52_uc003odo.1_5'Flank|VPS52_uc011dqy.1_5'Flank|VPS52_uc011dqz.1_5'Flank|RPS18_uc010jum.1_Non-coding_Transcript NM_022551 NP_072045 P62269 RS18_HUMAN Homo sapiens ribosomal protein S18 (RPS18), mRNA. 6 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 TCTAGTGATCCCTGAAAAGTT 0.428000 195 62 0 0 0.014410 0 0 MUC7 4589 broad.mit.edu 37 4 71347538 71347538 + Silent SNP T C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:71347538T>C uc011cat.2 + 3 1365 c.1077T>C c.(1075-1077)ttT>ttC p.F359F MUC7_uc011cau.2_Silent_p.F359F|MUC7_uc003hfj.3_Silent_p.F359F NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 359 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) TTTCTCGATTTCTTTTATATA 0.363000 39 21 0 0 0.014323 0 0 FOXK2 3607 broad.mit.edu 37 17 80540786 80540787 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:80540786_80540787CC>TT uc002kfn.3 + 4 1250_1251 c.1079_1080CC>TT c.(1078-1080)acc>aTT p.T360I FOXK2_uc002kfm.1_Missense_Mutation_p.T360I|FOXK2_uc010diu.3_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 360 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TGCTTTAGAACCCCTCTGGGAC 0.470000 20 9 0 0 0.004672 0 0 PCDH11X 27328 broad.mit.edu 37 X 91723302 91723302 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:91723302C>T uc004efk.2 + 5 4193 c.3348C>T c.(3346-3348)ttC>ttT p.F1116F PCDH11X_uc004efl.2_Silent_p.F1106F|PCDH11X_uc010nmv.2_Missense_Mutation_p.S1062L|PCDH11X_uc004efm.2_Intron|PCDH11X_uc004efn.2_Intron|PCDH11X_uc004efo.2_Silent_p.F1079F NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 1116 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TTTTAGCTTTCATACCTGGAC 0.269000 5 4 0 0 0.004007 0 0 MED12L 116931 broad.mit.edu 37 3 150877703 150877703 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:150877703G>A uc003eyp.3 + 6 1051 c.922G>A c.(922-924)Gat>Aat p.D308N MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.D308N|MED12L_uc003eyo.3_Missense_Mutation_p.D308N NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 308 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTGCTGAGCGATAGCCCCAA 0.577000 83 64 0 0 0.014410 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449609 105449609 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:105449609C>T uc022cca.1 + 0 184 c.184C>T c.(184-186)Caa>Taa p.Q62* MUM1L1_uc004emg.2_Nonsense_Mutation_p.Q62*|MUM1L1_uc004emf.2_Nonsense_Mutation_p.Q62* NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 62 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAATAAATCTCAAATTGAAGC 0.398000 23 20 0 0 0.002780 0 0 ACTL7A 10881 broad.mit.edu 37 9 111624630 111624630 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:111624630G>A uc004bdj.1 + 0 28 c.28G>A c.(28-30)Ggg>Agg p.G10R NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN Homo sapiens actin-like 7A (ACTL7A), mRNA. 10 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGCAATCATGGGGGATGGGCC 0.597000 4 25 0 0 0.004656 0 0 C1orf150 148823 broad.mit.edu 37 1 247737503 247737503 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247737503C>T uc001idf.3 + 4 374 c.227C>T c.(226-228)cCc>cTc p.P76L C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 76 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AATCACATCCCCCATCAGAGA 0.453000 1 114 0 0 0.014410 0 0 CPNE9 151835 broad.mit.edu 37 3 9754705 9754705 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:9754705C>T uc021wst.1 + 9 763 c.592C>T c.(592-594)Cct>Tct p.P198S CPNE9_uc003bsd.3_Missense_Mutation_p.P197S NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 198 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CACGCTGAATCCTGTGTGGCA 0.532000 24 18 0 0 0.007413 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640632 99640632 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:99640632G>A uc001tge.2 - 12 2184 c.1767C>T c.(1765-1767)tcC>tcT p.S589S ANKS1B_uc001tgf.2_Silent_p.S169S|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Silent_p.S555S NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 589 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CATCCTGTCGGGAGAGGTCAT 0.478000 90 75 0 0 0.014410 0 0 OR6F1 343169 broad.mit.edu 37 1 247875604 247875604 + Missense_Mutation SNP C A A rs138812909 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:247875604C>A uc001idj.1 - 0 454 c.454G>T c.(454-456)Ggt>Tgt p.G152C NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCCACGAAACCACACACCCAG 0.582000 85 56 4.09171e-25 5.56145e-25 0.014410 1 0 MYRIP 25924 broad.mit.edu 37 3 40231918 40231918 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:40231918C>T uc003cka.3 + 9 1764 c.1629C>T c.(1627-1629)tcC>tcT p.S543S MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.S543S|MYRIP_uc010hhw.3_Silent_p.S454S|MYRIP_uc011ayz.2_Silent_p.S356S|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 543 Actin-binding.|Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AACCATCTTCCCCCAGCGCCC 0.602000 22 11 0 0 0.002450 0 0 SUMO2 6613 broad.mit.edu 37 17 73170892 73170892 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:73170892G>A uc002jne.3 - 2 349 c.180C>T c.(178-180)ttC>ttT p.F60F SUMO2_uc002jnf.3_Intron NM_006937 NP_008868 P61956 SUMO2_HUMAN Homo sapiens SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) (SUMO2), transcript variant 1, mRNA. 60 Ubiquitin-like. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding NS(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) CGTCAAATCGGAATCTGATCT 0.338000 14 16 0 0 0.012319 0 0 NSD1 64324 broad.mit.edu 37 5 176638709 176638709 + Silent SNP C T T rs142096976 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:176638709C>T uc003mfr.4 + 4 3447 c.3309C>T c.(3307-3309)gaC>gaT p.D1103D NSD1_uc003mft.4_Silent_p.D834D|NSD1_uc003mfs.1_Silent_p.D1000D|NSD1_uc011dfx.2_Silent_p.D751D NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 1103 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAGATGGTGACCATTTTTCTG 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 31 32 0 0 0.009535 0 0 EVC 2121 broad.mit.edu 37 4 5811294 5811294 + Missense_Mutation SNP C T T rs148823298 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:5811294C>T uc003gil.1 + 18 2922 c.2738C>T c.(2737-2739)cCc>cTc p.P913L EVC_uc003gim.1_Non-coding_Transcript NM_153717 NP_714928 P57679 EVC_HUMAN Homo sapiens Ellis van Creveld syndrome (EVC), mRNA. 913 muscle organ development integral to membrane p.P913L(2) NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) GCCCGAGTGCCCCTTGCTGAA 0.562000 19 29 0 0 0.006230 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854664 79854664 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:79854664C>T uc010jam.3 - 3 1525 c.1175G>A c.(1174-1176)gGa>gAa p.G392E ANKRD34B_uc003kgw.3_Missense_Mutation_p.G392E|ANKRD34B_uc010jan.3_Missense_Mutation_p.G392E|ANKRD34B_uc021yax.1_Missense_Mutation_p.G392E NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA. 392 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CTTTTTCTTTCCTATAAGTGC 0.473000 28 21 0 0 0.010504 0 0 WAC 51322 broad.mit.edu 37 10 28897159 28897159 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:28897159C>T uc001iuf.3 + 7 1052 c.964C>T c.(964-966)Cct>Tct p.P322S WAC_uc001iud.3_Missense_Mutation_p.P277S|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.P277S|WAC_uc001iug.3_Missense_Mutation_p.P219S|WAC_uc001iuh.3_Missense_Mutation_p.P277S NM_016628 NP_057712 Q9BTA9 WAC_HUMAN Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA. 322 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck RNA polymerase II core binding|chromatin binding p.P322H(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TTGCACAACTCCTTCCACGTC 0.448000 56 44 0 0 0.014410 0 0 TRPM6 140803 broad.mit.edu 37 9 77339641 77339641 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:77339641G>A uc004ajl.1 - 38 6195 c.5957C>T c.(5956-5958)tCc>tTc p.S1986F TRPM6_uc004ajk.1_Missense_Mutation_p.S1981F|TRPM6_uc022bib.1_Missense_Mutation_p.S1981F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S937F|TRPM6_uc010mpd.1_Missense_Mutation_p.S819F|TRPM6_uc010mpe.1_Missense_Mutation_p.S533F|TRPM6_uc004ajj.1_Missense_Mutation_p.S942F NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1986 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCTTTCAGGGGAATAGTCATT 0.413000 7 30 0 0 0.009535 0 0 DEFB119 245932 broad.mit.edu 37 20 29965206 29965206 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:29965206C>T uc002wvt.3 - 1 218 c.98G>A c.(97-99)gGa>gAa p.G33E DEFB119_uc002wvs.3_3'UTR NM_153289 NP_695021 Q8N690 DB119_HUMAN Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA. 33 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCTACAAATTCCACTGTTACC 0.428000 60 48 0 0 0.014410 0 0 POTEE 445582 broad.mit.edu 37 2 132020967 132020967 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:132020967G>A uc002tsn.2 + 14 1991 c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247K|POTEE_uc002tsl.2_Missense_Mutation_p.E229K|POTEE_uc010fmy.1_Missense_Mutation_p.E111K NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 647 ATP binding CGTCTTGCATGAAAATAGTAC 0.353000 25 29 0 0 0.003271 0 0 OR5I1 10798 broad.mit.edu 37 11 55703181 55703181 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:55703181A>G uc010ris.2 - 0 696 c.696T>C c.(694-696)tcT>tcC p.S232S NM_006637 NP_006628 Q13606 OR5I1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R231C(1)|p.R231G(1)|p.R231H(1)|p.R231S(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCCCACTGAAAGAGCGGATCT 0.458000 7 6 0 0 0.001168 0 0 POU3F4 5456 broad.mit.edu 37 X 82763704 82763704 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:82763704C>T uc004eeg.2 + 0 436 c.372C>T c.(370-372)atC>atT p.I124I NM_000307 NP_000298 P49335 PO3F4_HUMAN Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA. 124 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 ACCCGTCTATCACGTCAAGCG 0.662000 15 16 0 0 0.006122 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558497 140558497 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140558497G>A uc011dai.2 + 0 1127 c.882G>A c.(880-882)aaG>aaA p.K294K PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 294 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACTTTTAAGGTCGATTTCT 0.413000 310 58 0 0 0.014410 0 0 SCAND3 114821 broad.mit.edu 37 6 28540746 28540746 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:28540746C>T uc003nlo.3 - 3 3538 c.2920G>A c.(2920-2922)Gct>Act p.A974T NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 974 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gtcattgaagctgcaccatca 0.368000 50 70 0 0 0.014410 0 0 ANO4 121601 broad.mit.edu 37 12 101295595 101295595 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:101295595G>A uc010svm.1 + 1 604 c.32G>A c.(31-33)gGa>gAa p.G11E ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G11E|ANO4_uc001thx.2_Missense_Mutation_p.G11E NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 11 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATCACTAATGGAAAAACCAAA 0.493000 HNSCC(74;0.22) 65 27 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179393070 179393070 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179393070C>T uc021vsy.1 - 309 99829 c.99604G>A c.(99604-99606)Gga>Aga p.G33202R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26897R|TTN_uc021vta.1_Missense_Mutation_p.G26830R|TTN_uc021vtb.1_Missense_Mutation_p.G26705R|TTN_uc002umq.3_Missense_Mutation_p.G219R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 34129 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) GTGTACTTTCCACTGTCGCTG 0.413000 30 31 0 0 0.012213 0 0 OR4K5 79317 broad.mit.edu 37 14 20388892 20388892 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:20388892C>T uc010tkw.2 + 0 127 c.127C>T c.(127-129)Ctt>Ttt p.L43F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTGGGAAATCTTCTCATTAT 0.403000 108 44 0 0 0.014410 0 0 FBXO10 26267 broad.mit.edu 37 9 37537215 37537215 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:37537215G>A uc004aac.3 - 2 1439 c.1359C>T c.(1357-1359)ttC>ttT p.F453F FBXO10_uc004aab.3_Silent_p.F437F|FBXO10_uc004aad.3_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 437 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) TCCCGTCCCGGAAGAGGCACT 0.587000 22 21 0 0 0.010504 0 0 HK2 3099 broad.mit.edu 37 2 75101507 75101507 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:75101507C>T uc002snd.3 + 6 2732 c.806C>T c.(805-807)tCg>tTg p.S269L NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 269 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 GACGATGGCTCGCTCAACGAC 0.572000 8 10 0 0 0.006214 0 0 HOXC13 3229 broad.mit.edu 37 12 54333195 54333195 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:54333195G>A uc001sei.3 + 0 620 c.505G>A c.(505-507)Gcc>Acc p.A169T NM_017410 NP_059106 P31276 HXC13_HUMAN Homo sapiens homeobox C13 (HOXC13), mRNA. 169 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 GTCCTCTAGGGCCAAGGAGTT 0.672000 T NUP98 AML 7 6 0 0 0.001984 0 0 BCMO1 53630 broad.mit.edu 37 16 81279168 81279168 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:81279168C>T uc002fgn.1 + 1 371 c.153C>T c.(151-153)ttC>ttT p.F51F BCMO1_uc002fgm.1_Silent_p.F51F|BCMO1_uc010vnp.1_Nonsense_Mutation_p.R26* NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 51 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ACCATTGGTTCGACGGCCTTG 0.577000 48 38 0 0 0.009718 0 0 UPK3A 7380 broad.mit.edu 37 22 45683288 45683288 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:45683288C>T uc003bfy.3 + 2 471 c.444C>T c.(442-444)ttC>ttT p.F148F UPK3A_uc010gzy.3_Intron NM_006953 NP_008884 O75631 UPK3A_HUMAN Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. 148 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ATCCCAACTTCCAGGGCCTCT 0.607000 5 5 0 0 0.001984 0 0 NAV3 89795 broad.mit.edu 37 12 78574770 78574770 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:78574770G>A uc001syp.3 + 29 5810 c.5637G>A c.(5635-5637)agG>agA p.R1879R NAV3_uc001syo.3_Silent_p.R1857R|NAV3_uc010sub.2_Silent_p.R1336R|NAV3_uc009zsf.3_Silent_p.R688R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 1879 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATCTTCCAGGCAGTCATTAG 0.473000 HNSCC(70;0.22) 52 40 0 0 0.008740 0 0 PPFIA2 8499 broad.mit.edu 37 12 82070582 82070582 + Silent SNP C G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:82070582C>G uc001szo.2 - 3 452 c.291G>C c.(289-291)ggG>ggC p.G97G PPFIA2_uc021rbi.1_Silent_p.G97G|PPFIA2_uc021rbj.1_Silent_p.G97G|PPFIA2_uc021rbk.1_Intron|PPFIA2_uc021rbl.1_Silent_p.G97G NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 14 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GTGGATCAGCCCCCTTAGAAC 0.403000 12 13 0 0 0.003163 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609835 32609835 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32609835C>T uc003obr.3 + 2 471 c.418C>T c.(418-420)Cct>Tct p.P140S HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.P140S|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank NM_002122 NP_002113 P01909 DQA1_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA. 139 Alpha-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CAACATCTTTCCTCCTGTGGT 0.498000 34 12 0 0 0.007413 0 0 TMEM132D 121256 broad.mit.edu 37 12 130015696 130015696 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:130015696G>A uc009zyl.1 - 2 1351 c.1023C>T c.(1021-1023)tcC>tcT p.S341S NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 341 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CATCCCAAATGGAAGGGCTGC 0.537000 39 32 0 0 0.003755 0 0 XIRP2 129446 broad.mit.edu 37 2 168106510 168106510 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:168106510C>T uc002udx.3 + 8 8697 c.8608C>T c.(8608-8610)Cag>Tag p.Q2870* XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.Q2695*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.Q2648*|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2695 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 TCAGAATTTTCAGCAAACACA 0.388000 61 48 0 0 0.014410 0 0 DIAPH2 1730 broad.mit.edu 37 X 96502837 96502837 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:96502837C>T uc004efu.4 + 23 3240 c.2844_splice c.e23+1 p.T948_splice DIAPH2_uc004eft.4_Splice_Site_p.T948_splice NM_006729 NP_006720 O60879 DIAP2_HUMAN Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA. 948 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus Rho GTPase binding|receptor binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GAAAAGATGACCATATCCTTT 0.343000 33 33 0 0 0.004289 0 0 OR51G1 79324 broad.mit.edu 37 11 4944777 4944777 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4944777G>A uc010qyr.2 - 0 793 c.793C>T c.(793-795)Cgc>Tgc p.R265C NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R265C(2)|p.R265H(1) NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCACCAAAGCGATGCACAAGA 0.517000 46 34 0 0 0.003271 0 0 SYNJ2 8871 broad.mit.edu 37 6 158484847 158484847 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:158484847G>A uc003qqx.2 + 8 1258 c.1152G>A c.(1150-1152)atG>atA p.M384I SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.M384I|SYNJ2_uc003qqy.2_Missense_Mutation_p.M147I|SYNJ2_uc011efn.1_Missense_Mutation_p.M312I|SYNJ2_uc010kjo.1_Missense_Mutation_p.M333I|SYNJ2_uc003qqz.2_Missense_Mutation_p.M1I NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 384 SAC. RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTTTGCGGATGAACTGTCTTG 0.512000 9 54 0 0 0.014410 0 0 CARD14 79092 broad.mit.edu 37 17 78162280 78162280 + Silent SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:78162280G>C uc002jxw.1 + 4 974 c.780G>C c.(778-780)ggG>ggC p.G260G CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.G260G|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.G23G|CARD14_uc010dhu.1_Silent_p.G58G NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 260 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGGAGTCCGGGGATGAGGAGC 0.597000 17 17 0 0 0.006122 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673385 141673385 + Silent SNP G A A rs144536521 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:141673385G>A uc003vwx.1 - 0 189 c.105C>T c.(103-105)ttC>ttT p.F35F NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 35 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CCAAGAAAACGAAGGCATTGG 0.483000 53 33 0 0 0.004289 0 0 CGREF1 10669 broad.mit.edu 37 2 27324350 27324350 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:27324350C>T uc010eyr.2 - 4 1120 c.1115G>A c.(1114-1116)gGa>gAa p.G372E CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Missense_Mutation_p.G250E|CGREF1_uc021vfa.1_Missense_Mutation_p.G250E|CGREF1_uc010eys.2_Missense_Mutation_p.G250E|CGREF1_uc002rir.2_Missense_Mutation_p.G250E NM_006569 NP_006560 Q99674 CGRE1_HUMAN Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA. 250 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGGCATCTCCTTCAGCCTC 0.706000 74 43 0 0 0.008740 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778487 56778487 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:56778487C>T uc003jrm.3 - 0 150 c.48G>A c.(46-48)ggG>ggA p.G16G NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN Homo sapiens actin, beta-like 2 (ACTBL2), mRNA. 16 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CCTTGCACATCCCTGACCCAT 0.567000 22 16 0 0 0.004007 0 0 MID1 4281 broad.mit.edu 37 X 10463689 10463689 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:10463689C>T uc004cte.4 - 3 989 c.799G>A c.(799-801)Gat>Aat p.D267N MID1_uc004ctd.4_5'UTR|MID1_uc004ctg.4_Missense_Mutation_p.D267N|MID1_uc004cth.4_Missense_Mutation_p.D229N|MID1_uc004ctk.4_Missense_Mutation_p.D267N|MID1_uc004ctj.4_Missense_Mutation_p.D267N|MID1_uc004cti.4_Missense_Mutation_p.D267N|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Missense_Mutation_p.D318N|MID1_uc004ctn.2_Missense_Mutation_p.D267N|MID1_uc004cto.2_Missense_Mutation_p.D229N|MID1_uc010ndw.1_5'UTR|MID1_uc004cts.1_Missense_Mutation_p.D34N|MID1_uc004ctt.3_Missense_Mutation_p.D318N|MID1_uc004ctu.3_Missense_Mutation_p.D267N|MID1_uc004ctv.3_Missense_Mutation_p.D280N|MID1_uc004ctw.3_Missense_Mutation_p.D229N|MID1_uc010ndy.2_Intron|MID1_uc004ctc.4_Missense_Mutation_p.D34N|MID1_uc004ctp.1_Non-coding_Transcript|MID1_uc004ctq.1_Missense_Mutation_p.D34N|MID1_uc004ctr.1_Missense_Mutation_p.D34N|MID1_uc010ndu.1_Missense_Mutation_p.D34N|MID1_uc010ndv.1_5'UTR|MID1_uc010ndx.2_Non-coding_Transcript NM_001193277 NP_150632 O15344 TRI18_HUMAN Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA. 267 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 ATGAGAAGATCACACTCCTCT 0.383000 45 31 0 0 0.007835 0 0 GSTM2P1 442245 broad.mit.edu 37 6 111368202 111368202 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:111368202A>G uc003puq.3 - 0 556 c.421T>C c.(421-423)Ttg>Ctg p.L141L Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA. AAGGCGTCCAACCACTTGGGC 0.493000 2 46 0 0 0.014410 0 0 ITGA5 3678 broad.mit.edu 37 12 54799659 54799659 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:54799659C>T uc001sga.3 - 9 1026 c.958G>A c.(958-960)Gaa>Aaa p.E320K ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 320 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CTTACCTGTTCCCCTGAGAAG 0.542000 52 31 0 0 0.005524 0 0 DNAH8 1769 broad.mit.edu 37 6 38820989 38820989 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:38820989C>T uc021yzh.1 + 40 5708 c.5599C>T c.(5599-5601)Cct>Tct p.P1867S DNAH8_uc003ooe.2_Missense_Mutation_p.P1650S NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGCCAAAGGTCCTGTGGAGAT 0.313000 56 25 0 0 0.008361 0 0 SRP9 6726 broad.mit.edu 37 1 225971047 225971047 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:225971047G>C uc001hpg.3 + 1 246 c.118G>C c.(118-120)Gtt>Ctt p.V40L SRP9_uc001hpf.4_Non-coding_Transcript|SRP9_uc001hph.3_Missense_Mutation_p.V40L|SRP9_uc001hpi.4_Non-coding_Transcript NM_003133 NP_003124 P49458 SRP09_HUMAN Homo sapiens signal recognition particle 9kDa (SRP9), transcript variant 2, mRNA. 40 SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding endometrium(1)|kidney(1)|skin(1) 3 GAACTTGTGTGTTAAAGTAAC 0.269000 4 153 0 0 0.014410 0 0 KIF15 56992 broad.mit.edu 37 3 44856487 44856487 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:44856487C>T uc003cnx.4 + 19 2617 c.2468C>T c.(2467-2469)tCa>tTa p.S823L KIF15_uc010hiq.3_Missense_Mutation_p.S726L|KIF15_uc010hir.3_5'UTR NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 823 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GAATATAGTTCATTCAAAACG 0.353000 39 38 0 0 0.006999 0 0 FGF9 2254 broad.mit.edu 37 13 22275471 22275471 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:22275471G>A uc001uog.2 + 2 1361 c.524G>A c.(523-525)gGg>gAg p.G175E NM_002010 NP_002001 P31371 FGF9_HUMAN Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA. 175 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding p.G175E(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) CCGAGAGAAGGGACTAGGACT 0.418000 24 26 0 0 0.004656 0 0 ACSF2 80221 broad.mit.edu 37 17 48551589 48551589 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:48551589C>T uc010wmm.1 + 15 1937 c.1833C>T c.(1831-1833)atC>atT p.I611I ACSF2_uc002iqu.2_Silent_p.I586I|ACSF2_uc010wml.1_Silent_p.I543I|ACSF2_uc010wmn.1_Silent_p.I573I|ACSF2_uc010wmo.1_Silent_p.I426I|ACSF2_uc010dbt.1_Silent_p.I90I NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA. 586 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CGAAGTACATCGTGTTTGTCA 0.592000 56 38 0 0 0.008740 0 0 ERAP2 64167 broad.mit.edu 37 5 96215576 96215576 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:96215576C>T uc003kmq.3 + 1 897 c.187C>T c.(187-189)Cct>Tct p.P63S ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.P63S|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.P57S|ERAP2_uc003kmu.3_Non-coding_Transcript NM_022350 NP_071745 Q6P179 ERAP2_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA. 63 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GGAACGATTTCCTTGGCAGGA 0.493000 22 20 0 0 0.010504 0 0 NBAS 51594 broad.mit.edu 37 2 15519910 15519910 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:15519910G>A uc002rcc.1 - 29 3432 c.3406C>T c.(3406-3408)Cac>Tac p.H1136Y NBAS_uc010exl.1_Missense_Mutation_p.H208Y|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 1136 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CCAGCCAGGTGGATGTTTTCA 0.448000 57 42 0 0 0.013114 0 0 CUL9 23113 broad.mit.edu 37 6 43173928 43173928 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:43173928C>T uc003ouk.3 + 24 5052 c.4977C>T c.(4975-4977)ttC>ttT p.F1659F CUL9_uc003oul.3_Silent_p.F1659F|CUL9_uc010jyk.3_Silent_p.F811F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 1659 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACAAGTTGTTCTTggagcagg 0.567000 13 11 0 0 0.008291 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6624750 6624750 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:6624750C>T uc003sqi.3 + 7 958 c.600C>T c.(598-600)acC>acT p.T200T ZDHHC4_uc003sql.3_Silent_p.T200T|ZDHHC4_uc003sqj.3_Silent_p.T200T|ZDHHC4_uc003sqh.3_Silent_p.T200T NM_001134388 NP_060576 Q9NPG8 ZDHC4_HUMAN Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA. 200 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) ACGTCTTGACCTTGACGGCCT 0.522000 58 20 0 0 0.012319 0 0 TFG 10342 broad.mit.edu 37 3 100438853 100438853 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:100438853C>T uc003duf.3 + 2 404 c.219C>T c.(217-219)gaC>gaT p.D73D TFG_uc003due.3_Silent_p.D73D|TFG_uc003dug.3_Silent_p.D73D|TFG_uc003dui.3_Silent_p.D73D NM_001007565 NP_006061 Q92734 TFG_HUMAN Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA. 73 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 ATAGTTCTGACCTTTCCTTTG 0.249000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 49 27 0 0 0.008361 0 0 FAT2 2196 broad.mit.edu 37 5 150929031 150929031 + Silent SNP G A A rs145042858 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:150929031G>A uc003lue.4 - 7 4627 c.4614C>T c.(4612-4614)ttC>ttT p.F1538F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1538 Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCACCCACACGAAGTTCCTCT 0.537000 25 16 0 0 0.004990 0 0 ZNF521 25925 broad.mit.edu 37 18 22805882 22805882 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:22805882G>A uc002kvk.2 - 3 2247 c.2000C>T c.(1999-2001)cCt>cTt p.P667L ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.P667L|ZNF521_uc002kvl.2_Missense_Mutation_p.P447L NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 667 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTTGCACTGAGGACAGGTCAA 0.413000 T PAX5 ALL 78 58 0 0 0.014410 0 0 FAM135B 51059 broad.mit.edu 37 8 139163757 139163757 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:139163757G>A uc003yuy.3 - 12 3132 c.2961C>T c.(2959-2961)ccC>ccT p.P987P FAM135B_uc003yux.3_Silent_p.P888P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.P549P|FAM135B_uc003yvb.3_Silent_p.P549P NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 987 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGGTCACAGTGGGGCACACAG 0.488000 HNSCC(54;0.14) 40 31 0 0 0.008361 0 0 SEMA4D 10507 broad.mit.edu 37 9 92002362 92002362 + Silent SNP G A A rs146117514 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:92002362G>A uc004aqo.1 - 13 1841 c.1269C>T c.(1267-1269)atC>atT p.I423I SEMA4D_uc011ltm.1_Silent_p.I423I|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.I423I NM_006378 NP_006369 Q92854 SEM4D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA. 423 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGTCCACCACGATCTGGGTGT 0.532000 4 29 0 0 0.008361 0 0 ADAD2 161931 broad.mit.edu 37 16 84230263 84230263 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:84230263G>A uc002fhq.2 + 9 1897 c.1783G>A c.(1783-1785)Ggg>Agg p.G595R ADAD2_uc002fhr.2_Missense_Mutation_p.G513R|AK123582_uc002fhs.1_Intron NM_139174 NP_631913 Q8NCV1 ADAD2_HUMAN Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA. 513 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TGCCGCCCTGGGGCCTCCCTC 0.607000 69 62 0 0 0.014410 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482344 140482344 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140482344C>T uc003lio.3 + 0 2111 c.2111C>T c.(2110-2112)tCg>tTg p.S704L BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 704 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCTTTTCGGTGCTCCTG 0.692000 121 84 0 0 0.014410 0 0 TAF1L 138474 broad.mit.edu 37 9 32634574 32634574 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:32634574G>A uc003zrg.1 - 0 1094 c.1004C>T c.(1003-1005)cCt>cTt p.P335L AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 335 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GGACTCCACAGGAACCATCAT 0.493000 54 39 0 0 0.006999 0 0 MEIS3P1 4213 broad.mit.edu 37 17 15690787 15690787 + Silent SNP G T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:15690787G>T uc002gpc.3 + 0 624 c.603G>T c.(601-603)acG>acT p.T201T Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA. CGCAGGACACGGGGCTTACCA 0.577000 40 33 1.42033e-22 1.92872e-22 0.004289 1 0 APOBEC3H 164668 broad.mit.edu 37 22 39497339 39497339 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:39497339G>A uc021wpt.1 + 2 375 c.248G>A c.(247-249)aGc>aAc p.S83N APOBEC3H_uc021wps.1_Missense_Mutation_p.S83N|APOBEC3H_uc021wpu.1_Missense_Mutation_p.S83N|APOBEC3H_uc021wpv.1_Missense_Mutation_p.S83N NM_001166003 NP_001159475 Q6NTF7 ABC3H_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA. 83 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) CTCACGTGGAGCCCCTGCTCC 0.537000 34 22 0 0 0.012319 0 0 DIP2A 23181 broad.mit.edu 37 21 47924366 47924366 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:47924366C>T uc002zjo.2 + 5 931 c.748C>T c.(748-750)Cgg>Tgg p.R250W DIP2A_uc011afy.1_Missense_Mutation_p.R186W|DIP2A_uc011afz.1_Missense_Mutation_p.R250W|DIP2A_uc002zjl.3_Missense_Mutation_p.R250W|DIP2A_uc002zjm.3_Missense_Mutation_p.R250W|DIP2A_uc010gql.3_Intron|DIP2A_uc002zjn.3_Missense_Mutation_p.R250W|DIP2A_uc002zjp.1_5'UTR NM_015151 NP_055966 Q14689 DIP2A_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA. 250 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AAGTGTTCCTCGGGGGTGCAG 0.532000 18 13 0 0 0.003163 0 0 NLRP14 338323 broad.mit.edu 37 11 7091629 7091629 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:7091629G>C uc001mfb.1 + 10 3411 c.3088G>C c.(3088-3090)Gga>Cga p.G1030R NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 1030 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGGATATGAAGGAATTGTGAA 0.383000 35 18 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9076958 9076958 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:9076958C>T uc002mkp.3 - 2 10692 c.10488G>A c.(10486-10488)gaG>gaA p.E3496E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3497 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 CCCTCAGAGTCTCAAGCCCTA 0.517000 35 29 0 0 0.006320 0 0 PDGFC 56034 broad.mit.edu 37 4 157771443 157771443 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:157771443C>T uc003iph.2 - 1 735 c.244G>A c.(244-246)Gaa>Aaa p.E82K PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA. 82 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) CATACATTTTCCTCTACTGCT 0.368000 25 22 0 0 0.002780 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458398 45458398 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:45458398C>T uc001rol.3 - 0 c.797G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TACCTGTTTTCCTTTGGCTCC 0.522000 14 11 0 0 0.013537 0 0 PLCB4 5332 broad.mit.edu 37 20 9353693 9353693 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:9353693G>A uc021wam.1 + 9 702 c.687_splice c.e9-1 p.I229_splice PLCB4_uc010gbw.1_Splice_Site_p.I229_splice|PLCB4_uc010gbx.3_Splice_Site_p.I229_splice|PLCB4_uc021wal.1_Splice_Site_p.I229_splice|PLCB4_uc002wnh.3_Splice_Site_p.I76_splice NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 229 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTCTTTTCAGCAATGGAGAC 0.289000 9 9 0 0 0.006214 0 0 R3HDML 140902 broad.mit.edu 37 20 42965979 42965979 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:42965979G>A uc002xls.1 + 0 354 c.182G>A c.(181-183)aGa>aAa p.R61K NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN Homo sapiens R3H domain containing-like (R3HDML), mRNA. 61 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) ATCTCTGTGAGAGACATGAAT 0.617000 26 21 0 0 0.014323 0 0 CSF2RA 1438 broad.mit.edu 37 X 1409240 1409240 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:1409240G>A uc010nct.2 + 7 806 c.484G>A c.(484-486)Gag>Aag p.E162K CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.E162K|CSF2RA_uc004cpq.2_Missense_Mutation_p.E162K|CSF2RA_uc004cpn.2_Missense_Mutation_p.E162K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E162K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E29K|CSF2RA_uc004cpp.2_Missense_Mutation_p.E162K|CSF2RA_uc010ncv.2_Missense_Mutation_p.E162K|CSF2RA_uc004cpr.2_Missense_Mutation_p.E162K NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 162 extracellular region|integral to plasma membrane cytokine receptor activity p.R161K(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GAGAAGGAGGGAGATCCGGTG 0.388000 104 58 0 0 0.014410 0 0 KIF3C 3797 broad.mit.edu 37 2 26203482 26203482 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:26203482C>T uc002rgu.2 - 0 1962 c.1305G>A c.(1303-1305)gaG>gaA p.E435E KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.E435E NM_002254 NP_002245 O14782 KIF3C_HUMAN Homo sapiens kinesin family member 3C (KIF3C), mRNA. 435 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTTGTCATCCTCCTCTTCTG 0.632000 43 37 0 0 0.008740 0 0 LRP2 4036 broad.mit.edu 37 2 170127566 170127566 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:170127566G>A uc002ues.3 - 15 2381 c.2168C>T c.(2167-2169)cCg>cTg p.P723L LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 723 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAAGGTGAACGGGATCCCACG 0.448000 28 26 0 0 0.004656 0 0 ITGB8 3696 broad.mit.edu 37 7 20441498 20441498 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:20441498G>A uc003suu.3 + 9 2141 c.1436G>A c.(1435-1437)gGa>gAa p.G479E ITGB8_uc011jyh.2_Missense_Mutation_p.G344E NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 479 Cysteine-rich tandem repeats. 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 GGACCTAAAGGAAAGTGTGTA 0.358000 98 69 0 0 0.014410 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956018 18956018 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:18956018G>A uc001mpg.3 - 0 532 c.314C>T c.(313-315)tCc>tTc p.S105F NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 105 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGCAAAGTAGGAAAACATCAT 0.547000 112 49 0 0 0.014410 0 0 ALDH7A1 501 broad.mit.edu 37 5 125887820 125887820 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:125887820G>A uc003ktx.3 - 13 1402 c.1210C>T c.(1210-1212)Cgc>Tgc p.R404C ALDH7A1_uc003ktv.3_Missense_Mutation_p.R25C|ALDH7A1_uc011cxa.2_Missense_Mutation_p.R367C NM_001201377 NP_001188306 P49419 AL7A1_HUMAN Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. 404 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TTTCCAGGGCGATCCATAACC 0.398000 13 13 0 0 0.003163 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17053075 17053075 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:17053075G>A uc003wxe.3 + 3 712 c.315G>A c.(313-315)caG>caA p.Q105Q NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA. 105 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) AAGCCCATCAGGAAGTTCTTA 0.403000 29 27 0 0 0.005443 0 0 RAB3C 115827 broad.mit.edu 37 5 58120906 58120906 + Missense_Mutation SNP T G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:58120906T>G uc003jrp.3 + 3 510 c.413T>G c.(412-414)gTt>gGt p.V138G NM_138453 NP_612462 Q96E17 RAB3C_HUMAN Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA. 138 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AATGCCCAAGTTATTCTGGTT 0.398000 22 30 0 0 0.010818 0 0 USH2A 7399 broad.mit.edu 37 1 215972453 215972453 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:215972453G>A uc001hku.1 - 49 10141 c.9754C>T c.(9754-9756)Cca>Tca p.P3252S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3252 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) TGTTCATCTGGACAGCATACT 0.403000 HNSCC(13;0.011) 3 56 0 0 0.014410 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833249 43833249 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:43833249C>T uc002zbe.3 + 3 555 c.471C>T c.(469-471)ctC>ctT p.L157L UBASH3A_uc002zbf.3_Silent_p.L157L|UBASH3A_uc010gpe.3_Silent_p.L157L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 157 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 TCAGCTACCTCGGCTTCTTCG 0.632000 39 38 0 0 0.006999 0 0 FAM5B 57795 broad.mit.edu 37 1 177249596 177249596 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:177249596G>A uc001glf.3 + 7 1596 c.1284G>A c.(1282-1284)ggG>ggA p.G428G FAM5B_uc001glg.3_Silent_p.G323G NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 428 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TCTACTGTGGGGAAAGCACCT 0.542000 3 118 0 0 0.014410 0 0 PREP 5550 broad.mit.edu 37 6 105733416 105733416 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:105733416G>A uc003prc.3 - 11 1727 c.1494C>T c.(1492-1494)atC>atT p.I498I NM_002726 NP_002717 P48147 PPCE_HUMAN Homo sapiens prolyl endopeptidase (PREP), mRNA. 498 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) CCACTGCCAGGATACCACCCA 0.453000 5 36 0 0 0.007835 0 0 OR8G2 26492 broad.mit.edu 37 11 124096207 124096207 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:124096207C>T uc010saf.2 + 0 810 c.810C>T c.(808-810)ttC>ttT p.F270F NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 270 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTGCAGCATTCATGTACCTGC 0.517000 3 19 0 0 0.003330 0 0 PDE1A 5136 broad.mit.edu 37 2 183066172 183066172 + Silent SNP G A A rs149666537 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:183066172G>A uc002uos.3 - 10 1251 c.1167C>T c.(1165-1167)ttC>ttT p.F389F PDE1A_uc010zfp.1_Silent_p.F285F|PDE1A_uc002uoq.1_Silent_p.F389F|PDE1A_uc010zfq.1_Silent_p.F389F|PDE1A_uc002uor.3_Silent_p.F373F|PDE1A_uc002uou.3_Silent_p.F355F NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 389 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.F389F(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GCACCTGCAGGAAAAACTCCT 0.483000 68 58 0 0 0.014410 0 0 PREX2 80243 broad.mit.edu 37 8 69136846 69136846 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:69136846C>T uc003xxv.1 + 38 4787 c.4760C>T c.(4759-4761)cCa>cTa p.P1587L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1587 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GACCGGACTCCACAGTCTGCA 0.493000 25 19 0 0 0.008871 0 0 CSF1R 1436 broad.mit.edu 37 5 149457753 149457753 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:149457753C>T uc003lrl.3 - 3 846 c.651G>A c.(649-651)ggG>ggA p.G217G CSF1R_uc011dcd.2_Silent_p.G69G|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.G217G|CSF1R_uc011dce.1_Silent_p.G217G|CSF1R_uc011dcf.2_Silent_p.G217G NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 217 Ig-like C2-type 3. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGGCAGCCTCCCCTCGAATCC 0.592000 38 37 0 0 0.003755 0 0 SLX4 84464 broad.mit.edu 37 16 3639402 3639402 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:3639402G>A uc002cvp.2 - 11 4864 c.4237C>T c.(4237-4239)Ccc>Tcc p.P1413S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1413 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TCCAGTGGGGGGCTTCTGTTG 0.607000 Direct reversal of damage 47 39 0 0 0.006999 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140236230 140236230 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140236230G>A uc003lhx.2 + 0 597 c.597G>A c.(595-597)ctG>ctA p.L199L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.L199L|PCDHAC2_uc011dad.2_Silent_p.L199L NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 215 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGCTGCTGGATCGTGAAG 0.398000 50 35 0 0 0.005524 0 0 MUSK 4593 broad.mit.edu 37 9 113563105 113563105 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:113563105G>A uc022blv.1 + 14 2581 c.2447G>A c.(2446-2448)cGa>cAa p.R816Q MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R727Q|MUSK_uc022blu.1_Missense_Mutation_p.R717Q NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 816 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TACTACGTGCGAGATGGCAAC 0.557000 3 13 0 0 0.004007 0 0 NME8 51314 broad.mit.edu 37 7 37901739 37901739 + Missense_Mutation SNP G A A rs151218163 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:37901739G>A uc003tfn.3 + 6 752 c.380G>A c.(379-381)cGa>cAa p.R127Q NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 127 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.R127L(1) GAAATGGCTCGACCTCAGGTA 0.363000 17 21 0 0 0.002780 0 0 SCN1A 6323 broad.mit.edu 37 2 166929996 166929996 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:166929996C>T uc002udo.4 - 2 363 c.136G>A c.(136-138)Gaa>Aaa p.E46K SCN1A_uc010fpk.3_Missense_Mutation_p.E46K|SCN1A_uc021vsb.1_Missense_Mutation_p.E46K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 46 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D45D(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGCCATTTTCGTCGTCATCT 0.448000 112 77 0 0 0.014410 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365821 7365821 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:7365821G>A uc002ghc.4 - 3 2730 c.2480C>T c.(2479-2481)tCc>tTc p.S827F ZBTB4_uc002ghd.4_Missense_Mutation_p.S827F NM_001128833 NP_065950 Q9P1Z0 ZBTB4_HUMAN Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA. 827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CTCACCGCTGGATGAGGAGAC 0.632000 12 9 0 0 0.006214 0 0 PTPRR 5801 broad.mit.edu 37 12 71095033 71095033 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:71095033G>A uc001swi.2 - 6 1492 c.1078C>T c.(1078-1080)Cca>Tca p.P360S PTPRR_uc001swh.2_Missense_Mutation_p.P115S|PTPRR_uc009zrs.3_Missense_Mutation_p.P154S|PTPRR_uc010stq.2_Missense_Mutation_p.P248S|PTPRR_uc010str.1_Missense_Mutation_p.P209S NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 360 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CGTGGTGTTGGTATAGACACA 0.458000 51 34 0 0 0.004289 0 0 IRF8 3394 broad.mit.edu 37 16 85954808 85954808 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:85954808C>T uc002fjh.3 + 8 1258 c.1201C>T c.(1201-1203)Cag>Tag p.Q401* NM_002163 NP_002154 Q02556 IRF8_HUMAN Homo sapiens interferon regulatory factor 8 (IRF8), mRNA. 401 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GCCGCCAGACCAGGTCTTCCG 0.572000 28 30 0 0 0.007291 0 0 IPO11 51194 broad.mit.edu 37 5 61763082 61763082 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:61763082C>T uc011cqr.2 + 5 891 c.761C>T c.(760-762)tCa>tTa p.S254L IPO11_uc003jtc.3_Missense_Mutation_p.S214L NM_001134779 NP_057422 Q9UI26 IPO11_HUMAN Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA. 214 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) ACACTGCTATCATTGAAAGGT 0.403000 50 40 0 0 0.011902 0 0 ZNF17 7565 broad.mit.edu 37 19 57931662 57931662 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:57931662C>T uc002qop.1 + 3 1074 c.808C>T c.(808-810)Cac>Tac p.H270Y ZNF17_uc021vck.1_Missense_Mutation_p.H261Y|ZNF17_uc002qoo.1_Missense_Mutation_p.H268Y NM_006959 NP_008890 P17021 ZNF17_HUMAN Homo sapiens zinc finger protein 17 (ZNF17), mRNA. 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CCAGAAAATTCACACTGGAGA 0.433000 34 22 0 0 0.014323 0 0 ZNF320 162967 broad.mit.edu 37 19 53385134 53385134 + Missense_Mutation SNP A G G rs138794752 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:53385134A>G uc002qag.3 - 3 436 c.245T>C c.(244-246)aTt>aCt p.I82T ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.I28T|ZNF320_uc002qai.3_Missense_Mutation_p.I82T NM_207333 NP_997216 A2RRD8 ZN320_HUMAN Homo sapiens zinc finger protein 320 (ZNF320), mRNA. 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) AAATGCTCCAATGTGATAACT 0.413000 102 68 0 0 0.014410 0 0 ART3 419 broad.mit.edu 37 4 77003456 77003456 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:77003456T>A uc003hjo.3 + 2 683 c.549T>A c.(547-549)ttT>ttA p.F183L ART3_uc003hji.3_Missense_Mutation_p.F183L|ART3_uc003hjj.3_Missense_Mutation_p.F183L|ART3_uc003hjk.3_Missense_Mutation_p.F183L|ART3_uc010ija.2_Missense_Mutation_p.F183L|ART3_uc003hjn.3_Missense_Mutation_p.F183L|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.F153L|ART3_uc010ijc.3_Missense_Mutation_p.F153L|ART3_uc010ijd.3_Missense_Mutation_p.F153L NM_001130016 NP_001123488 Q13508 NAR3_HUMAN Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA. 183 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTGGCCATTTTACCTTGGCAT 0.433000 21 16 0 0 0.003163 0 0 SPAM1 6677 broad.mit.edu 37 7 123593796 123593796 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:123593796G>A uc003vle.3 + 2 611 c.172G>A c.(172-174)Gaa>Aaa p.E58K SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E58K|SPAM1_uc022aks.1_Missense_Mutation_p.E58K|SPAM1_uc003vlf.4_Missense_Mutation_p.E58K|SPAM1_uc010lku.3_Missense_Mutation_p.E58K NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 58 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGCCCCAAGTGAATTTTGTCT 0.448000 25 29 0 0 0.009535 0 0 LILRB1 10859 broad.mit.edu 37 19 55146569 55146569 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:55146569G>A uc002qgj.3 + 11 1838 c.1498G>A c.(1498-1500)Gat>Aat p.D500N LILRB1_uc010erp.1_Missense_Mutation_p.D115N|LILRB1_uc002qgl.3_Missense_Mutation_p.D500N|LILRB1_uc002qgk.3_Missense_Mutation_p.D501N|LILRB1_uc002qgm.3_Missense_Mutation_p.D501N|LILRB1_uc010erq.3_Missense_Mutation_p.D484N|LILRB1_uc010err.3_Intron NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 500 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GAGAAAGGCTGATTTCCAACA 0.607000 HNSCC(37;0.09) 10 4 0 0 0.006214 0 0 RAB27B 5874 broad.mit.edu 37 18 52555255 52555255 + Missense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:52555255A>T uc002lfr.3 + 4 616 c.373A>T c.(373-375)Aat>Tat p.N125Y NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 125 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TTATTGTGAAAATCCAGATAT 0.408000 58 62 0 0 0.014410 0 0 ADAM30 11085 broad.mit.edu 37 1 120437687 120437687 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:120437687G>A uc001eij.3 - 0 1461 c.1273C>T c.(1273-1275)Cgg>Tgg p.R425W NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 425 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R425Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TGGCAACACCGATCTTTCTGA 0.448000 38 514 0 0 0.014410 0 0 PHF2P1 266695 broad.mit.edu 37 13 19622291 19622291 + RNA SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:19622291G>A uc001umb.1 - 9 c.3520C>T Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA. TCAAGCAGGCGACGATGGGGG 0.577000 16 15 0 0 0.002450 0 0 C8orf74 203076 broad.mit.edu 37 8 10557840 10557840 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:10557840G>A uc003wtd.1 + 3 773 c.744G>A c.(742-744)ttG>ttA p.L248L C8orf74_uc003wte.1_Non-coding_Transcript NM_001040032 NP_001035121 Q6P047 CH074_HUMAN Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA. 248 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) TCGCCATCTTGGACCTGAAGC 0.617000 39 38 0 0 0.005524 0 0 RNF10 9921 broad.mit.edu 37 12 121014413 121014413 + Silent SNP A C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:121014413A>C uc001typ.4 + 16 2863 c.2380A>C c.(2380-2382)Aga>Cga p.R794R RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Silent_p.R705R NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 794 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) aggaaagaaaagaaaaaaaca 0.448000 48 34 0 0 0.003271 0 0 PDE1C 5137 broad.mit.edu 37 7 31867938 31867938 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:31867938C>T uc003tcm.2 - 11 1714 c.1253G>A c.(1252-1254)cGa>cAa p.R418Q PDE1C_uc003tcn.1_Missense_Mutation_p.R418Q|PDE1C_uc003tco.2_Missense_Mutation_p.R478Q|PDE1C_uc003tcr.3_Missense_Mutation_p.R418Q|PDE1C_uc003tcs.3_Missense_Mutation_p.R418Q NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 418 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) AGTGGACTTTCGGTCACACAG 0.468000 19 41 0 0 0.011902 0 0 TNXB 7148 broad.mit.edu 37 6 32015758 32015758 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32015758C>T uc003nzl.2 - 29 10273 c.10071G>A c.(10069-10071)ggG>ggA p.G3357G 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. 3404 Fibronectin type-III 25. 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 CAGTCAGCTCCCCCAGGCGGG 0.622000 284 119 0 0 0.014410 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364144 47364144 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:47364144C>T uc021qis.1 - 16 1664 c.1609G>A c.(1609-1611)Gag>Aag p.E537K MYBPC3_uc021qir.1_Missense_Mutation_p.E189K|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 536 Ig-like C2-type 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) ACAATGAGCTCAGCCAGCGCC 0.652000 5 12 0 0 0.010729 0 0 CSMD2 114784 broad.mit.edu 37 1 34209078 34209078 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:34209078G>A uc001bxm.1 - 13 2153 c.1976C>T c.(1975-1977)gCc>gTc p.A659V CSMD2_uc001bxn.1_Missense_Mutation_p.A619V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 619 CUB 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCGTTGAAGGCCAGGTGGAT 0.602000 6 67 0 0 0.014410 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953751 8953751 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:8953751C>T uc002mko.2 + 0 483 c.397C>T c.(397-399)Cct>Tct p.P133S NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA. 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GGAGATAATTCCTGCAGAGGG 0.522000 11 17 0 0 0.006122 0 0 OR51F2 119694 broad.mit.edu 37 11 4843076 4843076 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:4843076G>A uc010qyn.2 + 0 461 c.461G>A c.(460-462)cGa>cAa p.R154Q NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCAATGCCCGAATTGCCAAG 0.463000 109 84 0 0 0.014410 0 0 SGCZ 137868 broad.mit.edu 37 8 13948015 13948015 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:13948015G>A uc003wwq.3 - 7 1536 c.876C>T c.(874-876)taC>taT p.Y292Y SGCZ_uc010lss.3_Silent_p.Y245Y NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 279 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGGAGAAAGGTAAAGTTTGC 0.488000 67 40 0 0 0.006230 0 0 DRD1 1812 broad.mit.edu 37 5 174869875 174869875 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:174869875C>T uc003mcz.3 - 1 1173 c.228G>A c.(226-228)ctG>ctA p.L76L DRD1_uc021yia.1_Silent_p.L76L NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 76 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding p.L76M(1)|p.V75I(1)|p.V75V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AGGGCATGACCAGGACGGCCA 0.552000 19 15 0 0 0.002450 0 0 WDR44 54521 broad.mit.edu 37 X 117529212 117529212 + Splice_Site SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:117529212G>A uc004eqn.3 + 6 1389 c.958_splice c.e6-1 p.E320_splice WDR44_uc004eqo.3_Splice_Site_p.E320_splice|WDR44_uc011mtr.2_Splice_Site_p.E295_splice|WDR44_uc010nqi.3_Splice_Site_p.E30_splice NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA. 320 Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 ATATTTCCAGGAAAATGGAAA 0.348000 27 18 0 0 0.008871 0 0 SERPINA3 12 broad.mit.edu 37 14 95080886 95080886 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:95080886G>A uc001ydp.3 + 1 267 c.108G>A c.(106-108)caG>caA p.Q36Q SERPINA3_uc001ydo.4_Silent_p.Q61Q|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Silent_p.Q36Q|SERPINA3_uc001yds.3_Silent_p.Q36Q NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 36 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ATCTGACCCAGGAGAACCAAG 0.592000 62 32 0 0 0.008740 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045721 142045721 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:142045721C>T uc003vxp.4 + 1 358 c.249C>T c.(247-249)ttC>ttT p.F83F TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CAAGTCGCTTCTCACCTGAAT 0.483000 172 145 0 0 0.014410 0 0 DEFA5 1670 broad.mit.edu 37 8 6914077 6914077 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:6914077C>T uc003wra.1 - 0 183 c.143G>A c.(142-144)gGa>gAa p.G48E NM_021010 NP_066290 Q01523 DEF5_HUMAN Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA. 48 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GAGTCCATTTCCTGCAAAGGA 0.488000 58 56 0 0 0.014410 0 0 RPTOR 57521 broad.mit.edu 37 17 78811795 78811795 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:78811795C>T uc002jyt.1 + 9 2015 c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W RPTOR_uc010wuf.1_Missense_Mutation_p.R219W|RPTOR_uc010wug.1_Missense_Mutation_p.R404W NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 404 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CACTGCGTTTCGGGTGAGTCC 0.627000 7 5 0 0 0.001984 0 0 RDX 5962 broad.mit.edu 37 11 110134900 110134900 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:110134900G>A uc009yxy.3 - 4 562 c.252C>T c.(250-252)ttC>ttT p.F84F RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Silent_p.F52F|RDX_uc001pku.3_Silent_p.F84F|RDX_uc010rwe.2_Intron NM_002906 NP_002897 P35241 RADI_HUMAN Homo sapiens radixin (RDX), mRNA. 84 FERM. actin filament capping Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) CTTCAGGAAAGAATTTAGCTC 0.313000 1 24 0 0 0.002780 0 0 CCDC92 80212 broad.mit.edu 37 12 124422086 124422086 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:124422086G>A uc001ufw.1 - 4 662 c.515C>T c.(514-516)tCc>tTc p.S172F CCDC92_uc001ufv.1_Missense_Mutation_p.S155F|CCDC92_uc001ufx.1_Missense_Mutation_p.S172F NM_025140 NP_079416 Q53HC0 CCD92_HUMAN Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA. 172 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GGTCCCGCTGGAGCTCATGAG 0.667000 24 15 0 0 0.002450 0 0 PPAPDC2 403313 broad.mit.edu 37 9 4663160 4663160 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:4663160C>T uc003zin.3 + 0 863 c.785C>T c.(784-786)gCt>gTt p.A262V SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron NM_203453 NP_982278 Q8IY26 PPAC2_HUMAN Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA. 262 integral to membrane hydrolase activity endometrium(1)|large_intestine(2)|lung(1) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) ACCGACGTAGCTTTTGGCTTT 0.552000 42 35 0 0 0.003271 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940367 82940367 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:82940367G>A uc003kim.3 - 2 661 c.590C>T c.(589-591)gCc>gTc p.A197V HAPLN1_uc003kin.3_Missense_Mutation_p.A197V NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 197 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.A197D(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GCCCCGCCAGGCGTCGTACAG 0.612000 24 17 0 0 0.006122 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675767 167675767 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:167675767G>A uc011cjq.1 - 6 916 c.859C>T c.(859-861)Ctt>Ttt p.L287F SPOCK3_uc021xuf.1_Missense_Mutation_p.L278F|SPOCK3_uc011cjr.1_Missense_Mutation_p.L158F|SPOCK3_uc003iri.1_Missense_Mutation_p.L278F|SPOCK3_uc011cjs.1_Missense_Mutation_p.L227F|SPOCK3_uc003irj.1_Missense_Mutation_p.L275F|SPOCK3_uc011cjt.1_Missense_Mutation_p.L186F|SPOCK3_uc011cjp.2_Missense_Mutation_p.L235F|SPOCK3_uc011cju.1_Missense_Mutation_p.L182F|SPOCK3_uc011cjv.1_Missense_Mutation_p.L180F|SPOCK3_uc003irk.4_Missense_Mutation_p.L275F NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 278 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TTCTTATCAAGGTAAATGCTT 0.403000 39 36 0 0 0.004289 0 0 ASAH2 56624 broad.mit.edu 37 10 52005019 52005019 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:52005019C>T uc001jjd.3 - 1 323 c.323G>A c.(322-324)cGa>cAa p.R108Q ASAH2_uc009xos.3_Missense_Mutation_p.R108Q NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 108 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GCAGTCAGCTCGTCCAACACC 0.448000 134 116 0 0 0.014410 0 0 LDHC 3948 broad.mit.edu 37 11 18456337 18456337 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:18456337C>T uc001mon.4 + 4 581 c.469C>T c.(469-471)Cgt>Tgt p.R157C LDHC_uc001mom.4_Missense_Mutation_p.R157C|LDHC_uc009yhp.3_Missense_Mutation_p.R157C|LDHC_uc001moo.4_Missense_Mutation_p.R41C|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_Missense_Mutation_p.R41C NM_017448 NP_059144 P07864 LDHC_HUMAN Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA. 157 glycolysis cytoplasm L-lactate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) ACCTGTAACTCGTGTAATTGG 0.368000 82 63 0 0 0.014410 0 0 KCTD5 54442 broad.mit.edu 37 16 2732687 2732687 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:2732687C>T uc002crd.3 + 0 193 c.138C>T c.(136-138)gtC>gtT p.V46V NM_018992 NP_061865 Q9NXV2 KCTD5_HUMAN Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA. 46 BTB. interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 CCAAGTGGGTCCGACTCAACG 0.726000 16 15 0 0 0.004007 0 0 TAF1L 138474 broad.mit.edu 37 9 32632418 32632418 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr9:32632418C>T uc003zrg.1 - 0 3250 c.3160G>A c.(3160-3162)Gaa>Aaa p.E1054K AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1054 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGAGCCTGTTCTGTTGACATT 0.473000 106 96 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179459340 179459340 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:179459340T>A uc021vsy.1 - 244 50402 c.50177A>T c.(50176-50178)aAa>aTa p.K16726I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K10421I|TTN_uc021vta.1_Missense_Mutation_p.K10354I|TTN_uc021vtb.1_Missense_Mutation_p.K10229I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17653 Fibronectin type-III 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A16726A(1)|p.A16726V(1) 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) AGTAACTTCTTTGACTTCCAG 0.378000 56 45 0 0 0.014410 0 0 PLCB3 5331 broad.mit.edu 37 11 64026159 64026159 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:64026159C>T uc009ypi.3 + 10 1354 c.1227C>T c.(1225-1227)atC>atT p.I409I PLCB3_uc009ypg.2_Silent_p.I409I|PLCB3_uc009yph.2_Silent_p.I342I NM_000932 NP_000923 Q01970 PLCB3_HUMAN Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA. 409 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 ACCCCGTCATCCTCTCCTTCG 0.597000 42 26 0 0 0.009535 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594891 41594891 + Missense_Mutation SNP G A A rs147576381 by1000genomes TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:41594891G>A uc002opt.3 + 1 247 c.238G>A c.(238-240)Gtg>Atg p.V80M NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 80 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCGGGTCGTGGTGCTGTGCGG 0.637000 32 31 0 0 0.009718 0 0 EML2 24139 broad.mit.edu 37 19 46116831 46116831 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:46116831G>A uc010xxm.2 - 20 2468 c.2395C>T c.(2395-2397)Cac>Tac p.H799Y EML2_uc002pcn.3_Missense_Mutation_p.H598Y|EML2_uc002pcp.3_Missense_Mutation_p.H482Y|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.H745Y NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 598 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CTAAACAGGTGAACTTTGCCA 0.582000 34 29 0 0 0.010818 0 0 CSMD2 114784 broad.mit.edu 37 1 33985159 33985159 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:33985159C>T uc001bxm.1 - 69 11032 c.10855G>A c.(10855-10857)Gag>Aag p.E3619K CSMD2_uc001bxn.1_Missense_Mutation_p.E3475K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3475 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AACTCCGCCTCGCTGGCCATG 0.612000 8 177 0 0 0.014410 0 0 STRN 6801 broad.mit.edu 37 2 37111159 37111159 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:37111159G>A uc002rpn.3 - 8 1111 c.1102C>T c.(1102-1104)Cct>Tct p.P368S STRN_uc010ezx.3_Missense_Mutation_p.P331S NM_003162 NP_003153 O43815 STRN_HUMAN Homo sapiens striatin, calmodulin binding protein (STRN), mRNA. 368 Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TGCAATGAAGGAAGTTCATCA 0.433000 34 19 0 0 0.008871 0 0 KLKB1 3818 broad.mit.edu 37 4 187158058 187158058 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:187158058C>T uc003iyy.3 + 4 523 c.452C>T c.(451-453)tCa>tTa p.S151L KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.S113L NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 151 Apple 2. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CAGTTTTTTTCATATGCCACG 0.413000 32 25 0 0 0.005443 0 0 ACSM4 341392 broad.mit.edu 37 12 7469768 7469768 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:7469768G>A uc001qsx.1 + 3 656 c.656G>A c.(655-657)gGa>gAa p.G219E NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 219 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GTGGAAACAGGAAGTCAAGAA 0.502000 14 8 0 0 0.004482 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997178 82997178 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:82997178C>T uc003uhy.2 - 16 2673 c.2052G>A c.(2050-2052)aaG>aaA p.K684K SEMA3E_uc022agy.1_Silent_p.K624K 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. 684 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) CCTCATCGTCCTTGTTAAACA 0.483000 38 68 0 0 0.014410 0 0 TEX261 113419 broad.mit.edu 37 2 71216111 71216111 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:71216111G>A uc002shn.3 - 4 523 c.409C>T c.(409-411)Ccg>Tcg p.P137S TEX261_uc010fdy.3_Missense_Mutation_p.P90S NM_144582 NP_653183 Q6UWH6 TX261_HUMAN Homo sapiens testis expressed 261 (TEX261), mRNA. 137 integral to membrane NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 AACGCAAACGGAATTATCCAC 0.577000 14 10 0 0 0.013537 0 0 CEACAM16 388551 broad.mit.edu 37 19 45207314 45207314 + Missense_Mutation SNP G C C TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:45207314G>C uc010xxd.2 + 3 615 c.409G>C c.(409-411)Gcc>Ccc p.A137P NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 137 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) CACAGTCTTGGCCAACAGCAC 0.667000 17 22 0 0 0.003954 0 0 ACSM4 341392 broad.mit.edu 37 12 7475888 7475888 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:7475888G>A uc001qsx.1 + 7 1184 c.1184G>A c.(1183-1185)gGa>gAa p.G395E NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 395 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ATGGGGAAAGGAATGCTGCCC 0.383000 13 8 0 0 0.004482 0 0 UTP20 27340 broad.mit.edu 37 12 101750436 101750436 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:101750436C>T uc001tia.1 + 41 5655 c.5499C>T c.(5497-5499)tcC>tcT p.S1833S NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 1833 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TAATGCAGTCCCTTCCACAAG 0.363000 22 15 0 0 0.006122 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089707 113089707 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:113089707C>T uc002thq.1 + 11 3606 c.3212C>T c.(3211-3213)tCa>tTa p.S1071L NM_198581 NP_940983 P61129 ZC3H6_HUMAN Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA. 1071 nucleic acid binding|zinc ion binding p.S1071L(2) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 GGAGAAAACTCAAAGAACCAG 0.433000 16 9 0 0 0.006214 0 0 POTEE 445582 broad.mit.edu 37 2 131976230 131976230 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:131976230C>T uc002tsn.2 + 0 307 c.255C>T c.(253-255)gaC>gaT p.D85D PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 85 ATP binding CTTCTGGAGACCACGACGACT 0.607000 57 39 0 0 0.014410 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175075 143175075 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:143175075G>A uc003wdc.1 + 0 110 c.110G>A c.(109-111)cGa>cAa p.R37Q LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 37 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) GAGTGGCTGCGATATGGCAGG 0.557000 65 22 0 0 0.010818 0 0 ITIH5 80760 broad.mit.edu 37 10 7618605 7618605 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:7618605C>T uc021pmv.1 - 9 1895 c.1789G>A c.(1789-1791)Gag>Aag p.E597K ITIH5_uc021pmu.1_Missense_Mutation_p.E383K|ITIH5_uc001ijr.2_Missense_Mutation_p.E597K NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 597 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.E597E(1) 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 CGCTCCTTCTCCGGTTCATCG 0.637000 25 13 0 0 0.014323 0 0 KCNH2 3757 broad.mit.edu 37 7 150649632 150649632 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:150649632C>T uc003wic.3 - 5 1839 c.1438G>A c.(1438-1440)Gag>Aag p.E480K KCNH2_uc003wib.3_Missense_Mutation_p.E140K|KCNH2_uc011kux.2_Missense_Mutation_p.E384K|KCNH2_uc003wid.3_Missense_Mutation_p.E140K|KCNH2_uc003wie.3_Missense_Mutation_p.E480K NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 480 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.E480E(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) ACCACCTCCTCGTTGGCATTG 0.597000 34 81 0 0 0.014410 0 0 PTH2R 5746 broad.mit.edu 37 2 209302345 209302345 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:209302345C>T uc010zjb.2 + 2 581 c.295C>T c.(295-297)Cct>Tct p.P99S PTH2R_uc002vdb.3_Missense_Mutation_p.P88S NM_005048 NP_005039 P49190 PTH2R_HUMAN Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA. 88 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCCATGCCCTCCTTATATTTA 0.323000 25 18 0 0 0.010504 0 0 F13B 2165 broad.mit.edu 37 1 197026252 197026252 + Silent SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:197026252A>G uc001gtt.1 - 6 1106 c.1062T>C c.(1060-1062)taT>taC p.Y354Y NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 354 Sushi 6. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CCCCATTGTAATAAATCTTAG 0.413000 3 103 0 0 0.014410 0 0 BRAF 673 broad.mit.edu 37 7 140453193 140453193 + Splice_Site SNP T C C rs121913370 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:140453193T>C uc003vwc.4 - 15 1803 c.1742_splice c.e15-1 p.N581_splice NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). 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.N581S(9)|p.N581I(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) AAGAAATATATCTGAGGTGTA 0.358000 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 33 39 0 0 0.009718 0 0 NALCN 259232 broad.mit.edu 37 13 101721152 101721152 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:101721152C>T uc001vox.1 - 37 4414 c.4225G>A c.(4225-4227)Gaa>Aaa p.E1409K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1409 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) TATGTAAATTCATCTGGAGTA 0.398000 19 15 0 0 0.004007 0 0 FAM55C 91775 broad.mit.edu 37 3 101540558 101540558 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:101540558C>T uc003dvn.3 + 7 2077 c.1440C>T c.(1438-1440)gtC>gtT p.V480V FAM55C_uc010hpn.3_Silent_p.V480V NM_145037 NP_659474 Q969Y0 FA55C_HUMAN Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA. 480 extracellular region breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 32 CCGTGGTGGTCATCCGGACGG 0.572000 56 40 0 0 0.008740 0 0 EML1 2009 broad.mit.edu 37 14 100364580 100364580 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:100364580C>T uc001ygr.3 + 8 964 c.895C>T c.(895-897)Cat>Tat p.H299Y EML1_uc010avt.1_Missense_Mutation_p.H267Y|EML1_uc010tww.2_Missense_Mutation_p.H268Y|EML1_uc001ygq.3_Missense_Mutation_p.H299Y|EML1_uc001ygs.3_Missense_Mutation_p.H280Y NM_001008707 NP_001008707 O00423 EMAL1_HUMAN Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA. 280 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CCTAGCAGTTCATCCTGATCG 0.363000 12 8 0 0 0.008291 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267729 43267729 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:43267729G>A uc021yzt.1 + 4 851 c.752G>A c.(751-753)gGg>gAg p.G251E SLC22A7_uc010jyl.1_Missense_Mutation_p.G252E|SLC22A7_uc003ous.3_Missense_Mutation_p.G249E|SLC22A7_uc003out.3_Missense_Mutation_p.G249E NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 251 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) GCACTGGTTGGGTACCTGATA 0.647000 90 35 0 0 0.005524 0 0 NCOA5 57727 broad.mit.edu 37 20 44692190 44692190 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:44692190G>A uc002xrd.3 - 5 1487 c.959C>T c.(958-960)gCc>gTc p.A320V NCOA5_uc002xrc.3_Missense_Mutation_p.A208V|NCOA5_uc002xre.3_Missense_Mutation_p.A320V NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CTGCAGGATGGCTTCATCGGC 0.582000 15 21 0 0 0.014323 0 0 NLRP4 147945 broad.mit.edu 37 19 56363466 56363466 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:56363466C>T uc002qmd.4 + 1 442 c.20C>T c.(19-21)tCt>tTt p.S7F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 7 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCTTTCTTCTCTGATTTTGGT 0.393000 83 55 0 0 0.014410 0 0 FASN 2194 broad.mit.edu 37 17 80041436 80041436 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:80041436G>A uc002kdu.3 - 30 5415 c.5298C>T c.(5296-5298)ttC>ttT p.F1766F FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1766 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CAATTTCCAGGAAGCGACCGT 0.642000 14 11 0 0 0.010729 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100231438 100231438 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:100231438G>A uc003knk.3 - 1 493 c.165C>T c.(163-165)atC>atT p.I55I ST8SIA4_uc003knl.3_Silent_p.I55I NM_005668 NP_005659 Q92187 SIA8D_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. 55 N-glycan processing|axon guidance integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CCTTTCGAATGATTTTATCAG 0.378000 27 23 0 0 0.002780 0 0 PNMA5 114824 broad.mit.edu 37 X 152159858 152159858 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:152159858G>A uc022chn.1 - 0 285 c.285C>T c.(283-285)ccC>ccT p.P95P PNMA5_uc010ntx.3_Silent_p.P95P|PNMA5_uc010ntw.3_Silent_p.P95P|PNMA5_uc004fgy.4_Silent_p.P95P|PNMA5_uc022chm.1_Silent_p.P95P NM_052926 NP_443158 Q96PV4 PNMA5_HUMAN Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA. 95 apoptosis p.P95P(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ctgggttacggggttttacca 0.512000 73 115 0 0 0.014410 0 0 HR 55806 broad.mit.edu 37 8 21976782 21976783 + Missense_Mutation DNP GG AA AA rs150573552 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:21976782_21976783GG>AA uc003xas.3 - 14 3656_3657 c.2991_2992CC>TT c.(2989-2994)caccgg>caTTgg p.R998W HR_uc003xat.3_Missense_Mutation_p.R998W NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 998 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AGGTGTCCCCGGTGCGGGCTCA 0.599000 10 10 0 0 0.004672 0 0 PAMR1 25891 broad.mit.edu 37 11 35456238 35456238 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:35456238C>T uc001mwf.3 - 10 1542 c.1499G>A c.(1498-1500)gGa>gAa p.G500E PAMR1_uc001mwg.3_Missense_Mutation_p.G483E|PAMR1_uc010rew.2_Missense_Mutation_p.G372E|PAMR1_uc010rex.2_Missense_Mutation_p.G443E NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 483 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GAACCACGCTCCCTTGTGTAG 0.607000 30 32 0 0 0.010818 0 0 KCTD19 146212 broad.mit.edu 37 16 67327786 67327786 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:67327786G>A uc002esu.2 - 11 1930 c.1879C>T c.(1879-1881)Cct>Tct p.P627S KCTD19_uc002est.2_Missense_Mutation_p.P399S|KCTD19_uc010vjj.1_Missense_Mutation_p.P370S NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 627 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GTGGCGGGAGGGTCTTTGGTT 0.527000 54 65 0 0 0.014410 0 0 ITIH1 3697 broad.mit.edu 37 3 52816039 52816039 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:52816039G>A uc003dfs.3 + 6 801 c.771G>A c.(769-771)aaG>aaA p.K257K ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.K115K|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 257 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GGCACTTCAAGGTGACCTACG 0.587000 34 22 0 0 0.010504 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010752 173010752 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:173010752T>A uc001giu.2 - 2 356 c.355A>T c.(355-357)Att>Ttt p.I119F NM_005092 NP_005083 Q9UNG2 TNF18_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA. 119 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 TGGCCATAAATTAAATATAAG 0.403000 7 248 0 0 0.014410 0 0 COL4A3 1285 broad.mit.edu 37 2 228135599 228135599 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr2:228135599G>A uc002vom.2 + 24 1851 c.1689G>A c.(1687-1689)ggG>ggA p.G563G BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 563 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GCCAACCTGGGAGAAAGGGCT 0.537000 30 17 0 0 0.006122 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995230 140995230 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:140995230G>A uc004fbt.3 + 3 2364 c.2040G>A c.(2038-2040)gaG>gaA p.E680E MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.E339E NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 680 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) AGAGTCCTGAGAGTGCTCCTG 0.567000 HNSCC(15;0.026) 47 88 0 0 0.014410 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422257 47422257 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:47422257C>T uc010ekv.3 + 0 325 c.325C>T c.(325-327)Cga>Tga p.R109* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA. 109 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TCAACCTCATCGAAGCACGGC 0.498000 68 52 0 0 0.014410 0 0 C12orf42 374470 broad.mit.edu 37 12 103696155 103696155 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:103696155G>A uc001tjt.2 - 5 902 c.814C>T c.(814-816)Ccc>Tcc p.P272S C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.P272S|C12orf42_uc001tju.2_Missense_Mutation_p.P177S NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 272 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 TTTCCGACGGGATTTCCGGAC 0.657000 23 21 0 0 0.003330 0 0 OR11G2 390439 broad.mit.edu 37 14 20665809 20665809 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:20665809C>T uc010tlb.2 + 0 315 c.315C>T c.(313-315)tcC>tcT p.S105S NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCAACTTCTCCTTCTTGGAGA 0.532000 24 34 0 0 0.004289 0 0 SLC22A14 9389 broad.mit.edu 37 3 38355425 38355426 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:38355425_38355426CC>TT uc003cib.2 + 6 1444_1445 c.1371_1372CC>TT c.(1369-1374)ctccct>ctTTct p.P458S SLC22A14_uc010hhc.1_Missense_Mutation_p.P458S|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 458 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TCCTTTTCCTCCCTGAAGGTAC 0.604000 24 33 0 0 0.004672 0 0 PCSK4 54760 broad.mit.edu 37 19 1489865 1489865 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:1489865C>T uc002ltb.1 - 1 283 c.221G>A c.(220-222)cGg>cAg p.R74Q PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. 74 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 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) GCCCCGGTGCCGCAGGTGAAA 0.692000 5 5 0 0 0.000602 0 0 BCR 613 broad.mit.edu 37 22 23630295 23630295 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:23630295C>T uc002zww.3 + 11 3134 c.2538C>T c.(2536-2538)ttC>ttT p.F846F BCR_uc002zwx.3_Silent_p.F846F|BCR_uc011aiy.2_Silent_p.F435F|BCR_uc002zwy.2_Silent_p.F132F NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 846 PH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GTTACACGTTCCTGATCTCCT 0.562000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 40 31 0 0 0.003271 0 0 CDH17 1015 broad.mit.edu 37 8 95201490 95201490 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:95201490C>T uc003ygh.2 - 2 200 c.75G>A c.(73-75)ggG>ggA p.G25G CDH17_uc011lgo.1_Silent_p.G25G|CDH17_uc011lgp.1_Silent_p.G25G NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 25 integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CACTAAACTTCCCCTCTTGGC 0.398000 46 34 0 0 0.005524 0 0 KDM4B 23030 broad.mit.edu 37 19 5039969 5039969 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:5039969C>T uc010xim.2 + 2 372 c.264C>T c.(262-264)atC>atT p.I88I KDM4B_uc010xil.1_Silent_p.I88I|KDM4B_uc002mbq.4_Silent_p.I88I NM_015015 NP_055830 O94953 KDM4B_HUMAN Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA. 88 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGTACAATATCCAGAAGAAGG 0.677000 31 19 0 0 0.010504 0 0 GPR158 57512 broad.mit.edu 37 10 25701203 25701203 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:25701203C>T uc001isj.3 + 3 1196 c.1136C>T c.(1135-1137)tCa>tTa p.S379L NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 379 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAGCATATTTCAGGAAGTACA 0.468000 64 48 0 0 0.014410 0 0 ZNF396 252884 broad.mit.edu 37 18 32954069 32954069 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:32954069G>A uc010xcf.1 - 1 320 c.188C>T c.(187-189)tCa>tTa p.S63L NM_145756 NP_665699 Q96N95 ZN396_HUMAN Homo sapiens zinc finger protein 396 (ZNF396), mRNA. 63 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 GGGCCCAGGTGAATCCTGGTA 0.592000 23 19 0 0 0.006122 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37507968 37507968 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:37507968G>A uc021ppc.1 + 33 3259 c.3160G>A c.(3160-3162)Gaa>Aaa p.E1054K ANKRD30A_uc001iza.1_Missense_Mutation_p.E1054K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1110 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTTGAAAAAGGAAATTGCCAT 0.289000 19 22 0 0 0.010504 0 0 GRID2 2895 broad.mit.edu 37 4 94690473 94690473 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:94690473G>A uc011cdt.2 + 14 2731 c.2473G>A c.(2473-2475)Gcc>Acc p.A825T GRID2_uc011cdu.2_Missense_Mutation_p.A730T NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 825 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAAAGGAGGCGCCCTGGACAT 0.517000 35 36 0 0 0.005524 0 0 OR5P2 120065 broad.mit.edu 37 11 7818403 7818403 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:7818403G>A uc001mfp.1 - 0 87 c.87C>T c.(85-87)atC>atT p.I29I NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCATGAAGAGGATGACTCGAA 0.433000 10 10 0 0 0.008291 0 0 MTMR7 9108 broad.mit.edu 37 8 17228656 17228656 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr8:17228656C>T uc003wxm.3 - 2 439 c.200G>A c.(199-201)gGa>gAa p.G67E NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 67 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CAGAGGGCATCCGGTAGCGGT 0.433000 67 37 0 0 0.013114 0 0 FANCM 57697 broad.mit.edu 37 14 45633577 45633577 + Missense_Mutation SNP C T T rs146151355 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:45633577C>T uc001wwd.4 + 9 1696 c.1597C>T c.(1597-1599)Cgt>Tgt p.R533C FANCM_uc001wwc.2_Missense_Mutation_p.R533C|FANCM_uc010anf.3_Missense_Mutation_p.R507C|FANCM_uc001wwe.4_Intron NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 533 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAAACAGTTTCGTGACGGTGG 0.363000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 25 0 0 0.005443 0 0 WDR25 79446 broad.mit.edu 37 14 100995455 100995455 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:100995455C>T uc010avx.3 + 5 1416 c.1323C>T c.(1321-1323)ttC>ttT p.F441F WDR25_uc001yhn.3_Silent_p.F441F|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Silent_p.F184F NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 441 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) AGCCCGTGTTCCTGGCACAGA 0.597000 17 11 0 0 0.013537 0 0 TRAT1 50852 broad.mit.edu 37 3 108572665 108572665 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:108572665C>T uc003dxi.1 + 5 646 c.502C>T c.(502-504)Cat>Tat p.H168Y TRAT1_uc010hpx.1_Missense_Mutation_p.H131Y NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 168 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 GGAAAACATTCATGATGATCC 0.438000 45 40 0 0 0.006230 0 0 CUL9 23113 broad.mit.edu 37 6 43184184 43184185 + Missense_Mutation DNP CC AT AT TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:43184184_43184185CC>AT uc003ouk.3 + 30 6300_6301 c.6225_6226CC>AT c.(6223-6228)agcccc>agATcc p.2075_2076SP>RS CUL9_uc003oul.3_Missense_Mutation_p.2047_2048SP>RS|CUL9_uc010jyk.3_Missense_Mutation_p.1227_1228SP>RS|CUL9_uc003oun.3_Intron NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 2075 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TCTGTGTGAGCCCCCTGGGGTG 0.639000 138 33 0 0 0.004672 0 0 DSCAM 1826 broad.mit.edu 37 21 41719705 41719705 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:41719705C>T uc002yyq.1 - 5 1554 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 368 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E368Q(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATAAGGTTTTCGTGGTTGATC 0.512000 154 109 0 0 0.014410 0 0 DAB1 1600 broad.mit.edu 37 1 57476384 57476384 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:57476384G>A uc009vzx.1 - 13 1972 c.1652C>T c.(1651-1653)cCa>cTa p.P551L DAB1_uc001cyt.1_Missense_Mutation_p.P549L|DAB1_uc001cyq.1_Missense_Mutation_p.P549L|DAB1_uc001cyr.1_Missense_Mutation_p.P465L|DAB1_uc009vzw.1_Missense_Mutation_p.P533L|DAB1_uc001cys.1_Missense_Mutation_p.P551L NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 584 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ACCGGCCTGTGGACTTATATT 0.468000 6 84 0 0 0.014410 0 0 BAZ1B 9031 broad.mit.edu 37 7 72861688 72861688 + Silent SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:72861688A>T uc003tyc.3 - 15 4102 c.3750T>A c.(3748-3750)gcT>gcA p.A1250A NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA. 1250 ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TGTCCTCAGAAGCAGACTCTT 0.458000 34 65 0 0 0.014410 0 0 SELP 6403 broad.mit.edu 37 1 169576202 169576202 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:169576202G>A uc001ggi.4 - 8 1569 c.1504C>T c.(1504-1506)Cct>Tct p.P502S SELP_uc001ggh.3_Missense_Mutation_p.P337S|SELP_uc009wvr.3_Missense_Mutation_p.P502S NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 502 Sushi 5. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CATTCTGGAGGAACAGAATTC 0.433000 4 137 0 0 0.014410 0 0 MLLT6 4302 broad.mit.edu 37 17 36873715 36873715 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:36873715C>T uc002hqi.4 + 10 1695 c.1682C>T c.(1681-1683)tCc>tTc p.S561F MLLT6_uc002hqj.3_5'UTR|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA. 561 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GACCCCATCTCCCACAGTGGC 0.662000 T MLL AL 43 27 0 0 0.012213 0 0 CD276 80381 broad.mit.edu 37 15 73994903 73994903 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:73994903C>T uc002avv.1 + 2 621 c.387C>T c.(385-387)ttC>ttT p.F129F CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Silent_p.F129F|CD276_uc002avw.1_Silent_p.F129F|CD276_uc010ulb.1_Silent_p.F75F NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA. 129 Ig-like V-type 1. T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 TCCGGGATTTCGGCAGCGCTG 0.682000 13 9 0 0 0.003163 0 0 MCF2 4168 broad.mit.edu 37 X 138708447 138708447 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:138708447C>T uc011mwn.1 - 8 1033 c.1027G>A c.(1027-1029)Gat>Aat p.D343N MCF2_uc004fav.3_Missense_Mutation_p.D198N|MCF2_uc004fau.3_Missense_Mutation_p.D198N|MCF2_uc010nsh.2_Missense_Mutation_p.D198N|MCF2_uc011mwm.2_Missense_Mutation_p.D159N|MCF2_uc011mwl.2_Missense_Mutation_p.D159N|MCF2_uc011mwo.1_Missense_Mutation_p.D258N|MCF2_uc004faw.2_Missense_Mutation_p.D258N NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 198 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding p.D198N(1)|p.D258N(1) NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GTTTCCATATCATGTACTTGA 0.348000 92 31 0 0 0.003755 0 0 RXRB 6257 broad.mit.edu 37 6 33167028 33167028 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:33167028G>A uc003odb.3 - 1 580 c.401C>T c.(400-402)cCa>cTa p.P134L RXRB_uc003odc.3_Missense_Mutation_p.P134L|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_Missense_Mutation_p.P134L|RXRB_uc011dqu.1_Intron|JA611279_uc021ywi.1_5'Flank|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank NM_021976 NP_068811 P28702 RXRB_HUMAN Homo sapiens retinoid X receptor, beta (RXRB), mRNA. 134 Modulating (By similarity).|Pro-rich. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) ACTGATGACTGGAAAGGGAGA 0.667000 7 3 0 0 0.004672 0 0 MCOLN1 57192 broad.mit.edu 37 19 7595174 7595174 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr19:7595174C>T uc002mgo.3 + 11 1503 c.1362C>T c.(1360-1362)ttC>ttT p.F454F MCOLN1_uc002mgp.3_Silent_p.F419F NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN Homo sapiens mucolipin 1 (MCOLN1), mRNA. 454 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCTGGCAGTTCCGCTCACTCT 0.647000 59 50 0 0 0.014410 0 0 DSP 1832 broad.mit.edu 37 6 7585490 7585490 + Silent SNP G A A rs35379048 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:7585490G>A uc003mxp.1 + 23 8274 c.7995G>A c.(7993-7995)acG>acA p.T2665T DSP_uc003mxq.1_Silent_p.T2066T|DSP_uc021yle.1_Silent_p.T2222T NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2665 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.T2665T(4) 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) ACCCAACCACGGGCCAGAAGC 0.577000 104 57 0 0 0.014410 0 0 MIPEP 4285 broad.mit.edu 37 13 24433009 24433009 + Missense_Mutation SNP G A A rs149545169 byFrequency TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr13:24433009G>A uc001uox.4 - 9 1224 c.1096C>T c.(1096-1098)Cgt>Tgt p.R366C NM_005932 NP_005923 Q99797 MIPEP_HUMAN Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA. 366 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) CTTTCTGCACGAATCACACCA 0.408000 20 16 0 0 0.010504 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515701 140515701 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:140515701C>T uc003liq.3 + 0 902 c.685C>T c.(685-687)Cgc>Tgc p.R229C NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 229 Cadherin 2. 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) CACCACAATTCGCATTGTCGT 0.552000 87 74 0 0 0.014410 0 0 MRS2 57380 broad.mit.edu 37 6 24423845 24423845 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:24423845G>A uc011djl.2 + 11 1386 c.1264G>A c.(1264-1266)Gat>Aat p.D422N MRS2_uc003neb.3_Missense_Mutation_p.D419N|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.D369N NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 419 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 TCTTCTGGCAGATAGAAGCAT 0.373000 34 13 0 0 0.004007 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5626672 5626672 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5626672G>A uc001mbf.3 + 3 972 c.709G>A c.(709-711)Gag>Aag p.E237K HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.E183K|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.E209K|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.E237K|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.E34K NM_001003819 NP_067629 B2RNG4 B2RNG4_HUMAN Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA. 237 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) GGAACAGGAAGAGAAGAAGGG 0.512000 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 29 0 0 0.007291 0 0 SLC28A2 9153 broad.mit.edu 37 15 45554216 45554216 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr15:45554216G>A uc001zva.2 + 3 239 c.174G>A c.(172-174)agG>agA p.R58R NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 58 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TTATTAGGAGGAGTCGGTGGC 0.403000 84 48 0 0 0.014410 0 0 RPL23P8 222901 broad.mit.edu 37 7 20867419 20867419 + RNA SNP A G G TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:20867419A>G uc011jyj.1 + 0 c.503A>G Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA. AAAATTTTAAACCCATTAAAA 0.338000 20 13 0 0 0.013537 0 0 DIP2A 23181 broad.mit.edu 37 21 47986563 47986563 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:47986563C>T uc002zjo.2 + 36 4613 c.4430C>T c.(4429-4431)tCt>tTt p.S1477F DIP2A_uc011afz.1_Missense_Mutation_p.S1473F|DIP2A_uc002zjs.2_Missense_Mutation_p.S157F|DIP2A_uc002zjt.2_Non-coding_Transcript NM_015151 NP_055966 Q14689 DIP2A_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA. 1477 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) ATTGAGACCTCTGTCATCCGA 0.592000 37 25 0 0 0.006320 0 0 AK7 122481 broad.mit.edu 37 14 96953373 96953373 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:96953373G>A uc001yfn.2 + 16 2157 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 705 DPY-30. cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CGTCCGACCCGAAGACCCTGT 0.413000 32 31 0 0 0.004289 0 0 SLC5A4 6527 broad.mit.edu 37 22 32647781 32647781 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:32647781G>A uc003ami.3 - 2 290 c.288C>T c.(286-288)gtC>gtT p.V96V NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA. 96 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTACGGTGGCGACTCCTGAAG 0.473000 63 51 0 0 0.014410 0 0 TMEM134 80194 broad.mit.edu 37 11 67235031 67235031 + Silent SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:67235031G>A uc001olq.1 - 2 338 c.270C>T c.(268-270)tcC>tcT p.S90S TMEM134_uc001olp.1_Silent_p.S81S|TMEM134_uc001olr.1_Silent_p.S90S|TMEM134_uc001ols.1_Non-coding_Transcript|TMEM134_uc010rpt.1_Silent_p.S81S|TMEM134_uc009yrx.2_Silent_p.S90S|TMEM134_uc010rpu.1_Missense_Mutation_p.P85L|TMEM134_uc001olu.3_Missense_Mutation_p.P94L NM_025124 NP_079400 Q9H6X4 TM134_HUMAN Homo sapiens transmembrane protein 134 (TMEM134), transcript variant 1, mRNA. 90 integral to membrane endometrium(1)|lung(1) 2 AGGACCACTGGGAGCTGCGGA 0.657000 30 29 0 0 0.009535 0 0 MYOM3 127294 broad.mit.edu 37 1 24433595 24433595 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:24433595G>A uc001bin.4 - 3 533 c.370C>T c.(370-372)Cag>Tag p.Q124* MYOM3_uc001bio.3_Nonsense_Mutation_p.Q124*|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 124 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCCCGCCTCTGGCGCAGCAGC 0.692000 0 10 0 0 0.013537 0 0 PKD1L2 114780 broad.mit.edu 37 16 81180978 81180978 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr16:81180978C>T uc002fgh.1 - 29 5113 c.5113G>A c.(5113-5115)Ggg>Agg p.G1705R PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1705 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AACACCTGCCCTGATGTGTTC 0.522000 62 80 0 0 0.014410 0 0 POU5F1 5460 broad.mit.edu 37 6 31138094 31138094 + RNA SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:31138094C>T uc011dng.1 + 0 c.102C>T POU5F1_uc003nsv.3_Missense_Mutation_p.G102R Q01860 PO5F1_HUMAN Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003057_AS. BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 CTCTCCACCCCGACTCCTGCT 0.662000 T EWSR1 sarcoma 37 9 0 0 0.008291 0 0 ZBED1 9189 broad.mit.edu 37 X 2408288 2408288 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:2408288G>A uc022brx.1 - 0 473 c.473C>T c.(472-474)cCc>cTc p.P158L DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P158L|ZBED1_uc004cqg.2_Missense_Mutation_p.P158L|ZBED1_uc022brw.1_Missense_Mutation_p.P158L NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 158 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCATACCGGGGGTCGGCCGT 0.662000 56 45 0 0 0.014410 0 0 OR4N5 390437 broad.mit.edu 37 14 20611898 20611898 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:20611898G>A uc010tla.2 + 0 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AGAAATTATGGAAACACAGAA 0.368000 44 39 0 0 0.007835 0 0 PLCB4 5332 broad.mit.edu 37 20 9343600 9343600 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:9343600C>T uc021wam.1 + 4 442 c.427C>T c.(427-429)Cca>Tca p.P143S PLCB4_uc010gbw.1_Missense_Mutation_p.P143S|PLCB4_uc010gbx.3_Missense_Mutation_p.P143S|PLCB4_uc021wal.1_Missense_Mutation_p.P143S NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 143 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAACGTCAGTCCAATGACATG 0.418000 13 13 0 0 0.006122 0 0 OR52J3 119679 broad.mit.edu 37 11 5068617 5068617 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:5068617C>T uc010qyv.2 + 0 862 c.862C>T c.(862-864)Ctc>Ttc p.L288F NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCACCCTCTCTCAACCCCAT 0.388000 35 35 0 0 0.003755 0 0 C7orf63 79846 broad.mit.edu 37 7 89897657 89897657 + Missense_Mutation SNP T A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:89897657T>A uc010lep.3 + 5 742 c.491T>A c.(490-492)gTt>gAt p.V164D C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Intron|C7orf63_uc010leo.2_Missense_Mutation_p.V162D NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA. 164 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AAGTGTATTGTTGATTTTTAT 0.338000 43 19 0 0 0.010504 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83320119 83320119 + Splice_Site SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:83320119C>T uc004eej.2 - 21 2008 c.1972_splice c.e21-1 p.D658_splice RPS6KA6_uc011mqt.2_Splice_Site_p.D658_splice|RPS6KA6_uc011mqu.2_Splice_Site_p.D555_splice NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 658 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GAAAGCAAATCCTAAATTAAA 0.338000 28 20 0 0 0.012319 0 0 FAM50B 26240 broad.mit.edu 37 6 3850681 3850681 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:3850681C>T uc003mvu.3 + 1 748 c.636C>T c.(634-636)ttC>ttT p.F212F FAM50B_uc021ykt.1_Silent_p.F212F NM_012135 NP_036267 Q9Y247 FA50B_HUMAN Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA. 212 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) TGCAGCAGTTCCTGAAGAAGG 0.652000 44 18 0 0 0.007413 0 0 BSN 8927 broad.mit.edu 37 3 49662657 49662657 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:49662657C>T uc003cxe.4 + 1 588 c.474C>T c.(472-474)gtC>gtT p.V158V NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 158 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.V158F(1)|p.V158I(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCTACTCCGTCCCTCAGATCG 0.637000 22 23 0 0 0.003954 0 0 SPIC 121599 broad.mit.edu 37 12 101880268 101880268 + Nonsense_Mutation SNP A T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:101880268A>T uc001tid.3 + 5 625 c.466A>T c.(466-468)Aaa>Taa p.K156* SPIC_uc010svp.2_Nonsense_Mutation_p.K156*|SPIC_uc009zua.3_Nonsense_Mutation_p.K31*|SPIC_uc021rcq.1_Nonsense_Mutation_p.K31* NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA. 156 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 GCTTTGGGGGAAAAGAAAAGG 0.423000 35 22 0 0 0.010504 0 0 ADAM19 8728 broad.mit.edu 37 5 156932732 156932732 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr5:156932732C>T uc003lwz.3 - 10 1154 c.1075G>A c.(1075-1077)Gat>Aat p.D359N ADAM19_uc003lww.2_Missense_Mutation_p.D92N|ADAM19_uc003lwy.3_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.D290N NM_033274 NP_150377 Q9H013 ADA19_HUMAN Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. 359 Peptidase M12B. proteolysis integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding p.S358S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGCAGCAATCTGCAGAATCA 0.602000 15 10 0 0 0.008291 0 0 MED1 5469 broad.mit.edu 37 17 37580986 37580986 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr17:37580986G>A uc002hrv.4 - 10 957 c.745C>T c.(745-747)Cga>Tga p.R249* MED1_uc010wee.2_Nonsense_Mutation_p.R77*|MED1_uc002hru.2_Nonsense_Mutation_p.R249* NM_004774 NP_004765 Q15648 MED1_HUMAN Homo sapiens mediator complex subunit 1 (MED1), mRNA. 249 Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CCCAAAGATCGAGAAACTGGG 0.373000 HNSCC(31;0.082) 39 30 0 0 0.010818 0 0 TRPC6 7225 broad.mit.edu 37 11 101375405 101375405 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:101375405C>T uc001pgk.4 - 1 720 c.295G>A c.(295-297)Gag>Aag p.E99K TRPC6_uc009ywy.3_Missense_Mutation_p.E99K|TRPC6_uc009ywz.1_Missense_Mutation_p.E99K NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 99 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AAGCGTTCCTCCTCTATAGAT 0.478000 3 67 0 0 0.014410 0 0 FLNC 2318 broad.mit.edu 37 7 128489238 128489238 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:128489238C>T uc003vnz.4 + 28 5140 c.4931C>T c.(4930-4932)tCc>tTc p.S1644F FLNC_uc003voa.4_Missense_Mutation_p.S1644F NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1644 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTTCCAGTGTCCATTGGAGGC 0.662000 31 11 0 0 0.001855 0 0 PI3 5266 broad.mit.edu 37 20 43804764 43804764 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:43804764C>T uc002xng.3 + 1 366 c.342C>T c.(340-342)ttC>ttT p.F114F NM_002638 NP_002629 P19957 ELAF_HUMAN Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA. 114 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TGGCCTGTTTCGTTCCCCAGT 0.567000 31 38 0 0 0.006230 0 0 DOCK3 1795 broad.mit.edu 37 3 51251646 51251646 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr3:51251646G>A uc011bds.2 + 13 1243 c.1220G>A c.(1219-1221)aGa>aAa p.R407K NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 407 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCAATTACAAGAAAATTGGGA 0.453000 11 13 0 0 0.013537 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69337307 69337307 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:69337307C>T uc003hdz.4 + 4 520 c.456C>T c.(454-456)ccC>ccT p.P152P NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 152 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CTGTAGGACCCCCTAAAGTAG 0.338000 72 48 0 0 0.014410 0 0 SLC39A8 64116 broad.mit.edu 37 4 103236961 103236961 + Silent SNP G A A rs139422652 TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:103236961G>A uc003hwb.1 - 1 775 c.246C>T c.(244-246)tcC>tcT p.S82S SLC39A8_uc011ceo.1_Silent_p.S82S|SLC39A8_uc003hwa.1_Silent_p.S15S|SLC39A8_uc003hwc.2_Silent_p.S82S NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA. 82 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) AGCCATGAAGGGAAAAGATCT 0.353000 32 43 0 0 0.010771 0 0 VPS16 64601 broad.mit.edu 37 20 2846048 2846048 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr20:2846048C>T uc002whe.3 + 21 2226 c.2178C>T c.(2176-2178)ctC>ctT p.L726L PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Silent_p.L582L|VPS16_uc002whg.3_Silent_p.L412L NM_022575 NP_072097 Q9H269 VPS16_HUMAN Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA. 726 intracellular protein transport HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CCTGCAGGCTCTGGTGGCTGA 0.572000 18 12 0 0 0.002450 0 0 SLIT1 6585 broad.mit.edu 37 10 98820540 98820540 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr10:98820540C>T uc001kmw.2 - 8 1050 c.798G>A c.(796-798)caG>caA p.Q266Q SLIT1_uc009xvh.1_Silent_p.Q266Q NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 266 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CCGCTTCTCCCTGGCCTGCAG 0.637000 5 9 0 0 0.006214 0 0 EIF3L 51386 broad.mit.edu 37 22 38273863 38273863 + Silent SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:38273863C>T uc003auf.3 + 10 1338 c.1260C>T c.(1258-1260)ttC>ttT p.F420F EIF3L_uc011ann.2_Silent_p.F372F|EIF3L_uc003aug.3_Silent_p.F312F NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA. 420 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.F420F(2) kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCCCCAAGTTCCTGTCGCCTG 0.502000 29 31 0 0 0.010818 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524285 73524285 + Missense_Mutation SNP C T T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chrX:73524285C>T uc004ebs.4 + 0 261 c.184C>T c.(184-186)Ctt>Ttt p.L62F NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA. 62 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 GAACTGTGTCCTTCTCGGAAA 0.517000 35 21 0 0 0.014323 0 0 ANO4 121601 broad.mit.edu 37 12 101333101 101333101 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:101333101G>A uc010svm.1 + 3 741 c.169G>A c.(169-171)Gat>Aat p.D57N ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.D22N|ANO4_uc001thx.2_Missense_Mutation_p.D57N NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 57 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGTGGCCAAGGATGTCAATAT 0.383000 HNSCC(74;0.22) 61 39 0 0 0.014410 0 0 GLRA3 8001 broad.mit.edu 37 4 175649639 175649639 + Missense_Mutation SNP G A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:175649639G>A uc003ity.1 - 3 981 c.478C>T c.(478-480)Ctt>Ttt p.L160F GLRA3_uc003itz.1_Missense_Mutation_p.L160F NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 160 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) ATTGAATAAAGAACATTTCCA 0.343000 26 30 0 0 0.006320 0 0 PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr1:214557049_214557051delCCT uc001hkk.2 - 12 2800_2802 c.2147_2149delAGG c.(2146-2151)gaggct>gct p.E716del PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(2) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 --- 79 --- --- 10 --- FRAS1 80144 broad.mit.edu 37 4 79373459 79373460 + Frame_Shift_Del DEL AA - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr4:79373459_79373460delAA uc003hlb.2 + 46 7154_7155 c.6714_6715delAA c.(6712-6717)agaatcfs p.R2238fs NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2237 cell communication integral to membrane|plasma membrane metal ion binding p.R2239T(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGATCTACAGAATCACCAGACA 0.460 --- 18 --- --- 19 --- TNXB 7148 broad.mit.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr6:32063513_32063514delAC uc003nzl.2 - 2 2318_2319 c.2116_2117delGT c.(2116-2118)gtafs p.V706fs NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 706 EGF-like 18. 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 GAAGCCCTCTACACACACACAC 0.668 --- 342 --- --- 11 --- DPY19L2P2 349152 broad.mit.edu 37 7 102850713 102850713 + Splice_Site DEL C - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr7:102850713delC uc003vbh.4 - 19 3201 c.1010_splice c.e19+1 p.R337_splice DPY19L2P2_uc003vbg.4_Splice_Site|DPY19L2P2_uc010lit.3_Splice_Site Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA. GATATAATTACCTTAGATAAA 0.254 --- 9 --- --- 9 --- USP35 57558 broad.mit.edu 37 11 77921051 77921053 + In_Frame_Del DEL AGA - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr11:77921051_77921053delAGA uc021qny.1 + 9 2506_2508 c.2150_2152delAGA c.(2149-2154)gagaag>gag p.K718del USP35_uc001oze.2_In_Frame_Del_p.K474del|USP35_uc001ozc.3_In_Frame_Del_p.K286del|USP35_uc010rsp.2_In_Frame_Del_p.K150del|USP35_uc001ozd.3_In_Frame_Del_p.K329del|USP35_uc001ozf.3_In_Frame_Del_p.K449del NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA. 718 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) gaggaagaagagaaggtggagaa 0.591 --- 11 --- --- 14 --- ASUN 55726 broad.mit.edu 37 12 27089698 27089705 + Frame_Shift_Del DEL AACAAACA - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr12:27089698_27089705delAACAAACA uc001rhk.4 - 1 569_576 c.32_39delTGTTTGTT c.(31-39)gtgtttgttfs p.V11fs ASUN_uc010sjk.2_Intron|FGFR1OP2_uc001rhl.3_5'Flank|FGFR1OP2_uc001rhm.3_5'Flank|FGFR1OP2_uc001rhn.3_5'Flank NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA. 11 cell division|mitosis|regulation of mitotic cell cycle protein binding AGTGATCCACAACAAACACTGTTTTATG 0.365 --- 27 --- --- 8 --- abParts 0 broad.mit.edu 37 14 107183650 107183650 + RNA DEL C - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr14:107183650delC uc021ser.1 - 29 c.1928delG Parts of antibodies, mostly variable regions. GTCTCAGGGACCCCCCAGGCT 0.592 --- 84 --- --- 14 --- SERPINB2 5055 broad.mit.edu 37 18 61564981 61564982 + Frame_Shift_Ins INS - A A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr18:61564981_61564982insA uc010xeu.2 + 5 771_772 c.438_439insA c.(436-441)cagaaafs p.Q146fs SERPINB2_uc002ljo.3_Frame_Shift_Ins_p.Q146fs|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 146 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GACTCTGTCAGAAATATTACTC 0.376 --- 52 --- --- 39 --- POFUT2 23275 broad.mit.edu 37 21 46707783 46707783 + Frame_Shift_Del DEL C - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr21:46707783delC uc002zhc.3 - 0 29 c.4delG c.(4-6)gcgfs p.A2fs POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Frame_Shift_Del_p.A2fs|POFUT2_uc011afp.1_Frame_Shift_Del_p.A2fs|POFUT2_uc011afq.1_Frame_Shift_Del_p.A2fs|LOC642852_uc002zhf.3_5'Flank NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA. 2 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) CTGAGTGTCGCCATGGCCCCG 0.716 --- 4 --- --- 2 --- LGALS2 3957 broad.mit.edu 37 22 37967935 37967935 + Frame_Shift_Del DEL C - - TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx e371e0ec-1c86-4cc2-922a-ab7b07ebce63 24788398-b611-4cfa-877c-539ab2224df8 g.chr22:37967935delC uc003ata.3 - 1 122 c.10delG c.(10-12)gaafs p.E4fs NM_006498 NP_006489 P05162 LEG2_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA. 4 Galectin. p.G3G(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) ACCTCAAGTTCCCCCTGGGCC 0.547 --- 49 --- --- 27 ---