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 CGN 57530 broad.mit.edu 37 1 151491671 151491671 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:151491671G>A uc009wmw.3 + 1 820 c.676G>A c.(676-678)Gaa>Aaa p.E226K NM_020770 NP_065821 Q9P2M7 CING_HUMAN Homo sapiens cingulin (CGN), mRNA. 220 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity p.E225E(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CACCTTTGAGGAACGGGAGCG 0.627000 95 12 0 0 0.000151284 0 0 MIER3 166968 broad.mit.edu 37 5 56219660 56219660 + Splice_Site SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:56219660C>T uc003jrc.1 - 12 1093 c.1068_splice c.e12-1 p.T356_splice MIER3_uc003jqz.1_Splice_Site_p.T288_splice|MIER3_uc003jrd.1_Splice_Site_p.T351_splice|MIER3_uc003jra.1_Splice_Site_p.T350_splice|MIER3_uc003jrb.1_Splice_Site_p.T175_splice|SETD9_uc021xyu.1_Intron NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA. 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) CCATATAGTCCCTGAAAAACA 0.418000 162 17 0 0 0.000958276 0 0 INTS1 26173 broad.mit.edu 37 7 1538686 1538686 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:1538686G>A uc003skn.2 - 7 1163 c.1062C>T c.(1060-1062)ctC>ctT p.L354L INTS1_uc003skq.2_Silent_p.L354L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN Homo sapiens integrator complex subunit 1 (INTS1), mRNA. 354 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) AGGTGGAGGTGAGGAGCCGCA 0.677000 7 4 0 0 0.000602214 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:35930362T>C uc010kxc.3 + 9 1175 c.951T>C c.(949-951)taT>taC p.Y317Y SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y NM_001788 NP_001779 Q16181 SEPT7_HUMAN Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA. 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 66 4 0 0 0.00024832 0 0 IGSF21 84966 broad.mit.edu 37 1 18691797 18691797 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:18691797G>A uc001bau.2 + 5 1004 c.621G>A c.(619-621)caG>caA p.Q207Q IGSF21_uc001bav.2_Silent_p.Q28Q NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 207 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) GCCCCCTACAGGACAGCAGGC 0.607000 39 16 0 0 0.00074312 0 0 CCDC8 83987 broad.mit.edu 37 19 46914505 46914505 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:46914505C>T uc002pep.3 - 0 2415 c.1563G>A c.(1561-1563)ctG>ctA p.L521L NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA. 521 plasma membrane 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) CCTCGGCCCTCAGCACCCTGA 0.647000 61 9 0 0 0.000442599 0 0 FXYD6-FXYD2 100533181 broad.mit.edu 37 11 117711882 117711882 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:117711882T>C uc021qqy.1 - 4 635 c.190A>G c.(190-192)Agt>Ggt p.S64G FXYD6-FXYD2_uc021qqz.1_Intron|FXYD6-FXYD2_uc001prp.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc001prr.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc001prq.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc001pro.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc021qra.1_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc021qrb.1_5'Flank NM_001204268 NP_001191197 Homo sapiens FXYD6-FXYD2 readthrough (FXYD6-FXYD2), transcript variant 1, mRNA. TGATTGAAACTGCACTTGCAC 0.577000 19 9 0 0 0.00010058 0 0 FAT3 120114 broad.mit.edu 37 11 92531411 92531411 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:92531411C>T uc001pdj.4 + 8 5249 c.5232C>T c.(5230-5232)acC>acT p.T1744T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1744 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTCAGGCCACCAATATGGCAG 0.423000 TCGA Ovarian(4;0.039) 391 104 0 0 0.000781405 0 0 FANCD2 2177 broad.mit.edu 37 3 10140621 10140621 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:10140621C>T uc003buw.3 + 42 4481 c.4403C>T c.(4402-4404)cCa>cTa p.P1468L FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.3_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 1468 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGCCCATTTCCATTCCCTCCA 0.403000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 60 22 0 0 0.00047179 0 0 CLDN25 644672 broad.mit.edu 37 11 113650669 113650669 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:113650669G>T uc009yyw.1 + 0 152 c.152G>T c.(151-153)tGg>tTg p.W51L NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN Homo sapiens claudin 25 (CLDN25), mRNA. 51 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 ATGGGGATTTGGGAGGTCTGC 0.562000 68 10 2.17888e-05 0.000274526 0.000442599 1 0 WNT3A 89780 broad.mit.edu 37 1 228238595 228238595 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:228238595C>T uc001hrp.2 + 2 659 c.552C>T c.(550-552)aaC>aaT p.N184N WNT3A_uc001hrq.2_Silent_p.N184N NM_033131 NP_149122 P56704 WNT3A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA. 184 Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CAGCCATGAACCGCCACAACA 0.647000 18 11 0 0 0.000673444 0 0 NOL4 8715 broad.mit.edu 37 18 31523129 31523130 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:31523129_31523130GG>AA uc010dmi.3 - 8 1739_1740 c.1441_1442CC>TT c.(1441-1443)cct>TTt p.P481F NOL4_uc010xbs.2_Missense_Mutation_p.P196F|NOL4_uc002kxr.4_Missense_Mutation_p.P253F|NOL4_uc010xbt.2_Missense_Mutation_p.P407F|NOL4_uc010dmh.3_Missense_Mutation_p.P343F|NOL4_uc010xbu.2_Missense_Mutation_p.P417F|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.P166F NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 481 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 AAGGTGGGAAGGAATAGGTCGA 0.416000 44 18 0 0 6.4e-05 0 0 OR10A3 26496 broad.mit.edu 37 11 7960726 7960727 + Missense_Mutation DNP GA AC AC TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:7960726_7960727GA>AC uc010rbi.2 - 0 341_342 c.341_342TC>GT c.(340-342)ctc>cGT p.L114R NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCGCTCCCAGGAGAAAACATTC 0.406000 22 9 0 0 6.4e-05 0 0 POM121L12 285877 broad.mit.edu 37 7 53103782 53103782 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:53103782G>A uc003tpz.3 + 0 434 c.418G>A c.(418-420)Ggg>Agg p.G140R NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 140 p.I139M(1)|p.I139I(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGTGACCATCGGGATCGCGCC 0.716000 37 8 0 0 0.000274275 0 0 PTBP3 9991 broad.mit.edu 37 9 115013260 115013260 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:115013260G>A uc004bfv.3 - 6 1036 c.853C>T c.(853-855)Cct>Tct p.P285S MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Missense_Mutation_p.P282S|PTBP3_uc004bfw.3_Missense_Mutation_p.P279S|PTBP3_uc011lwu.2_Missense_Mutation_p.P251S|PTBP3_uc004bfz.3_Missense_Mutation_p.P251S|PTBP3_uc004bfy.3_Missense_Mutation_p.P184S|5S_rRNA_uc022bmb.1_5'Flank NM_001244898 NP_001231827 O95758 ROD1_HUMAN Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA. 279 anatomical structure morphogenesis|mRNA processing nucleus RNA binding|nucleotide binding TCACCAGTAGGAAGGTCTAAG 0.448000 117 10 0 0 0.000442599 0 0 SLC39A12 221074 broad.mit.edu 37 10 18276511 18276511 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:18276511C>T uc001ipo.2 + 6 1473 c.1200C>T c.(1198-1200)atC>atT p.I400I SLC39A12_uc001ipn.2_Silent_p.I400I|SLC39A12_uc001ipp.2_Silent_p.I400I|SLC39A12_uc010qck.1_Silent_p.I266I NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA. 400 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.L399F(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ACAGGCTTATCTTACAGCTGT 0.542000 63 22 0 0 0.000375601 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113438 117113438 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:117113438G>T uc003pxj.1 - 5 2670 c.2648C>A c.(2647-2649)cCc>cAc p.P883H GPRC6A_uc003pxk.1_Missense_Mutation_p.P708H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P812H NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 883 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACTAGAGCTGGGATTGGTCAT 0.468000 70 14 4.3838e-07 5.5887e-06 0.000151284 1 0 RGMB 285704 broad.mit.edu 37 5 98115338 98115338 + Missense_Mutation SNP T A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:98115338T>A uc003knc.3 + 3 716 c.314T>A c.(313-315)gTg>gAg p.V105E RGMB_uc003knb.2_Missense_Mutation_p.V105E NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN Homo sapiens RGM domain family, member B (RGMB), mRNA. 64 BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) ACGGACTTCGTGTCCCTGACT 0.493000 115 74 0 0 0.000781405 0 0 LOC729862 729862 broad.mit.edu 37 5 28927107 28927107 + RNA SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:28927107G>A uc003jgz.1 + 0 c.131G>A Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. GAGCAGAAGGGAGGCTCCAAG 0.512000 11 6 0 0 3.59834e-05 0 0 AHR 196 broad.mit.edu 37 7 17373557 17373557 + Silent SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:17373557T>C uc011jxz.1 + 6 1340 c.727T>C c.(727-729)Tta>Cta p.L243L NM_001621 NP_001612 P35869 AHR_HUMAN Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. 243 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CCAAGGGAAGTTAAAGTATCT 0.348000 43 49 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 50 56 0 0 0.000781405 0 0 VHLL 391104 broad.mit.edu 37 1 156268786 156268786 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:156268786G>A uc001fok.3 - 0 643 c.195C>T c.(193-195)atC>atT p.I65I NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA. 65 Beta-domain. protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) CAGGCAGCACGATTCGTGGGC 0.607000 29 11 0 0 0.000673444 0 0 PRB2 653247 broad.mit.edu 37 12 11546316 11546316 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:11546316G>A uc010shk.1 - 2 731 c.696C>T c.(694-696)tcC>tcT p.S232S NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGCACTTTGGGACTTGTTGT 0.602000 423 78 0 0 0.000781405 0 0 KYNU 8942 broad.mit.edu 37 2 143713800 143713800 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:143713800G>A uc010fnm.3 + 6 680 c.464G>A c.(463-465)cGa>cAa p.R155Q KYNU_uc002tvk.3_Missense_Mutation_p.R155Q|KYNU_uc002tvl.3_Missense_Mutation_p.R155Q NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 155 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) ACGCCAAAACGATATAAAATT 0.308000 66 16 0 0 0.000422831 0 0 FBXL5 26234 broad.mit.edu 37 4 15627133 15627133 + Missense_Mutation SNP C A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:15627133C>A uc003goc.2 - 8 1717 c.1592G>T c.(1591-1593)aGt>aTt p.S531I FBXL5_uc010idw.2_Missense_Mutation_p.S444I|FBXL5_uc003gob.2_Missense_Mutation_p.S393I|FBXL5_uc010idx.2_Missense_Mutation_p.S530I|FBXL5_uc003god.2_Missense_Mutation_p.S514I|FBXL5_uc010idy.2_Missense_Mutation_p.S531I NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA. 531 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis SCF ubiquitin ligase complex|perinuclear region of cytoplasm iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CCAACAGACACTAGTCCTTAG 0.413000 29 20 2.4624e-09 3.19592e-08 0.000132079 1 0 GPR126 57211 broad.mit.edu 37 6 142721714 142721714 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:142721714T>C uc010khe.3 + 10 2071 c.1660T>C c.(1660-1662)Ttt>Ctt p.F554L GPR126_uc010khc.3_Missense_Mutation_p.F554L|GPR126_uc010khd.3_Missense_Mutation_p.F526L|GPR126_uc010khf.3_Missense_Mutation_p.F526L NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 554 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CAAGCCTGGCTTTTCTGCTTC 0.458000 20 6 0 0 8.12818e-05 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910937 230910937 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:230910937G>A uc002vqd.2 - 3 1364 c.905C>T c.(904-906)tCg>tTg p.S302L FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.S302L|SLC16A14_uc002vqf.3_Missense_Mutation_p.S302L NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 302 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) AAAGTAGCCCGAATACCAGTC 0.493000 26 12 0 0 0.00010058 0 0 ABCC3 8714 broad.mit.edu 37 17 48757215 48757215 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:48757215C>T uc002isl.3 + 25 3842 c.3762C>T c.(3760-3762)atC>atT p.I1254I ABCC3_uc002isn.3_Silent_p.I8I NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1254 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AATCTAACATCGTGGCTGTGG 0.522000 46 23 0 0 0.000586117 0 0 FAM179B 23116 broad.mit.edu 37 14 45433494 45433494 + Missense_Mutation SNP T A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:45433494T>A uc001wvw.3 + 0 2079 c.1870T>A c.(1870-1872)Tgt>Agt p.C624S FAM179B_uc001wvv.3_Missense_Mutation_p.C624S|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.C624S|FAM179B_uc001wvu.3_Missense_Mutation_p.C624S NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 624 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GAGTGCACACTGTCACTGTGG 0.483000 35 13 0 0 0.00010058 0 0 MUC17 140453 broad.mit.edu 37 7 100675854 100675855 + Missense_Mutation DNP CA AC AC TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:100675854_100675855CA>AC uc003uxp.1 + 2 1210_1211 c.1157_1158CA>AC c.(1156-1158)tca>tAC p.S386Y MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 386 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) ATGCTAACCTCAACTCTTAGTG 0.455000 346 19 0 0 6.4e-05 0 0 PDS5B 23047 broad.mit.edu 37 13 33333804 33333804 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:33333804G>C uc010abf.3 + 28 3534 c.3348G>C c.(3346-3348)atG>atC p.M1116I PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 1116 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CTCCTGAAATGAAATCATTTT 0.294000 44 12 0 0 0.000308642 0 0 VPS13D 55187 broad.mit.edu 37 1 12359295 12359295 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:12359295C>T uc001atv.3 + 24 6211 c.6070C>T c.(6070-6072)Ctg>Ttg p.L2024L VPS13D_uc001atw.3_Silent_p.L2024L|VPS13D_uc001atx.3_Silent_p.L1212L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2024 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) ACGGGTTCTCCTGGATATTGA 0.418000 45 42 0 0 0.000781405 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122047 12122047 + Silent SNP T G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:12122047T>G uc003nac.3 + 3 2198 c.2019T>G c.(2017-2019)tcT>tcG p.S673S HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 673 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTACGGATTCTGGTTACTTTT 0.502000 27 14 0 0 0.000308642 0 0 EYA4 2070 broad.mit.edu 37 6 133836476 133836476 + Missense_Mutation SNP A G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:133836476A>G uc011ecs.2 + 16 1853 c.1537A>G c.(1537-1539)Aag>Gag p.K513E EYA4_uc011ecq.2_Missense_Mutation_p.K453E|EYA4_uc011ecr.2_Missense_Mutation_p.K459E|EYA4_uc003qec.4_Missense_Mutation_p.K507E|EYA4_uc003qed.4_Missense_Mutation_p.K507E|EYA4_uc003qee.4_Missense_Mutation_p.K484E|BC041459_uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 507 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGGCCCTGCCAAGAGGGATGC 0.433000 81 35 0 0 0.000814825 0 0 UBE3B 89910 broad.mit.edu 37 12 109971326 109971326 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:109971326C>T uc001top.3 + 26 3581 c.2978C>T c.(2977-2979)cCa>cTa p.P993L UBE3B_uc001toq.3_Missense_Mutation_p.P993L|UBE3B_uc001tos.3_Missense_Mutation_p.P420L|UBE3B_uc001tot.3_Missense_Mutation_p.P111L|UBE3B_uc010sxp.1_Missense_Mutation_p.P111L NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 993 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTCAAGCCTCCATTCTCCATC 0.632000 80 5 0 0 0.000602214 0 0 ENOX1 55068 broad.mit.edu 37 13 43843642 43843642 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:43843642G>A uc001uza.4 - 12 1818 c.1518C>T c.(1516-1518)tcC>tcT p.S506S ENOX1_uc001uzc.4_Silent_p.S506S|ENOX1_uc001uzb.4_Silent_p.S506S NM_001127615 NP_060463 Q8TC92 ENOX1_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA. 506 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CTTGTGTATGGGACTGCTCTT 0.398000 116 49 0 0 0.000781405 0 0 ZNF436 80818 broad.mit.edu 37 1 23688771 23688771 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:23688771C>T uc001bgt.3 - 2 1485 c.1104G>A c.(1102-1104)ggG>ggA p.G368G ZNF436_uc001bgu.3_Silent_p.G368G NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA. 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TGAAGCTTTTCCCACAAGCAT 0.463000 61 47 0 0 0.000680045 0 0 LYST 1130 broad.mit.edu 37 1 235973516 235973516 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:235973516G>A uc001hxj.2 - 4 777 c.602C>T c.(601-603)cCc>cTc p.P201L LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.P201L NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 201 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTAGCTTTGGGGTGGTCTTG 0.423000 142 7 0 0 0.000157383 0 0 OR56A5 390084 broad.mit.edu 37 11 5989553 5989553 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:5989553G>A uc010qzu.2 - 0 172 c.172C>T c.(172-174)Ctg>Ttg p.L58L NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 58 integral to membrane|plasma membrane olfactory receptor activity GGCTGGTGCAGAGAGGCTTCC 0.602000 30 4 0 0 0.000602214 0 0 DSCAM 1826 broad.mit.edu 37 21 41465790 41465790 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:41465790C>T uc002yyq.1 - 20 4160 c.3708G>A c.(3706-3708)gaG>gaA p.E1236E 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. 1236 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding 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) AGGCCTCAAACTCGCTGATCA 0.458000 31 12 0 0 0.000219431 0 0 SORCS2 57537 broad.mit.edu 37 4 7719824 7719824 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:7719824C>T uc003gkb.4 + 17 2338 c.2338C>T c.(2338-2340)Ccc>Tcc p.P780S SORCS2_uc011bwi.2_Missense_Mutation_p.P608S NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA. 780 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CCTCACGCCGCCCCGGGGCCT 0.647000 21 8 0 0 0.000274275 0 0 DDX53 168400 broad.mit.edu 37 X 23018475 23018475 + Missense_Mutation SNP A T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:23018475A>T uc004daj.3 + 0 398 c.301A>T c.(301-303)Atg>Ttg p.M101L NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 101 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAATAGGGAAATGAAAGCAAA 0.368000 26 37 0 0 0.000953801 0 0 ARG1 383 broad.mit.edu 37 6 131904954 131904954 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:131904954C>T uc003qcp.2 + 7 954 c.875C>T c.(874-876)aCa>aTa p.T292I ARG1_uc003qco.2_3'UTR|ARG1_uc010kfm.2_Missense_Mutation_p.T300I|MED23_uc003qcq.3_Intron NM_000045 NP_000036 P05089 ARGI1_HUMAN Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA. 292 arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) GTAACTCGAACAGTGAACACA 0.428000 23 7 0 0 8.12818e-05 0 0 TM9SF4 9777 broad.mit.edu 37 20 30745665 30745665 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:30745665G>T uc002wxj.2 + 13 1633 c.1398G>T c.(1396-1398)ttG>ttT p.L466F TM9SF4_uc010zts.1_Missense_Mutation_p.L373F|TM9SF4_uc002wxk.2_Missense_Mutation_p.L449F NM_014742 NP_055557 Q92544 TM9S4_HUMAN Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA. 466 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCGTCTACTTGGGCTACTACT 0.597000 125 7 3.86212e-05 0.000485186 0.000673444 1 0 GRIN3A 116443 broad.mit.edu 37 9 104432571 104432571 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:104432571C>T uc004bbp.2 - 2 2724 c.2123G>A c.(2122-2124)cGa>cAa p.R708Q GRIN3A_uc004bbq.1_Missense_Mutation_p.R708Q NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 708 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACTTCTATTTCGCCCCTTGGG 0.463000 109 11 0 0 0.000151284 0 0 SPAG5 10615 broad.mit.edu 37 17 26938597 26938597 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:26938597G>A uc010crq.2 - 8 831 c.799C>T c.(799-801)Ctt>Ttt p.L267F SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Missense_Mutation_p.L267F NM_001174103 NP_001167574 Q96R06 SPAG5_HUMAN Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA. 0 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) ATGTACTGAAGAGTGCCACAG 0.493000 113 63 0 0 0.000781405 0 0 LOC100132352 100132352 broad.mit.edu 37 9 68728848 68728848 + RNA SNP A C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:68728848A>C uc022bhu.1 + 2 c.633A>C LOC100132352_uc010mnp.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA. aagaagaaaaagagcaaagat 0.279000 40 8 0 0 0.000274275 0 0 ZNF80 7634 broad.mit.edu 37 3 113955133 113955133 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:113955133C>T uc010hqo.3 - 0 1293 c.789G>A c.(787-789)caG>caA p.Q263Q ZNF80_uc003ebf.3_Non-coding_Transcript NM_007136 NP_009067 P51504 ZNF80_HUMAN Homo sapiens zinc finger protein 80 (ZNF80), mRNA. 263 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GGATCTTACTCTGTTGGGCAA 0.413000 45 17 0 0 0.000175454 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C G G rs58074988 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:12887606C>G uc001auk.2 - 2 447 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 84 p.C84S(2) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 293 7 0 0 0.000274275 0 0 RPS11 6205 broad.mit.edu 37 19 50001293 50001293 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:50001293C>T uc002pob.1 + 3 423 c.343C>T c.(343-345)Ccc>Tcc p.P115S NM_001015 NP_001006 P62280 RS11_HUMAN Homo sapiens ribosomal protein S11 (RPS11), mRNA. 115 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) ACACCTGTCCCCCTGCTTCAG 0.557000 41 12 0 0 0.000219431 0 0 RAD50 10111 broad.mit.edu 37 5 131931281 131931281 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:131931281C>T uc003kxi.3 + 12 2387 c.1986C>T c.(1984-1986)gcC>gcT p.A662A RAD50_uc003kxh.3_Silent_p.A523A NM_005732 NP_005723 Q92878 RAD50_HUMAN Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA. 662 Zinc-hook. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGGCTGGAGCCACAGCAGTTT 0.373000 Homologous recombination 17 13 0 0 0.000219431 0 0 GBP1 2633 broad.mit.edu 37 1 89522681 89522681 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:89522681C>T uc001dmx.2 - 6 1231 c.1011G>A c.(1009-1011)caG>caA p.Q337Q NM_002053 NP_002044 P32455 GBP1_HUMAN Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA. 337 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GGCCCATCTGCTGTTCATAGT 0.567000 71 5 0 0 3.59834e-05 0 0 LGALS12 85329 broad.mit.edu 37 11 63279257 63279257 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:63279257C>T uc001nxc.2 + 6 1002 c.661C>T c.(661-663)Ctc>Ttc p.L221F LGALS12_uc001nxa.2_Missense_Mutation_p.L220F|LGALS12_uc001nxb.2_Missense_Mutation_p.L211F|LGALS12_uc001nxd.2_Missense_Mutation_p.L159F|LGALS12_uc001nxe.2_Missense_Mutation_p.L150F|LGALS12_uc009yot.2_Missense_Mutation_p.L180F NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. 220 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 TCCCCAGGGTCTCTCGCCTGG 0.592000 30 20 0 0 0.00047179 0 0 OR4A47 403253 broad.mit.edu 37 11 48511051 48511051 + Nonsense_Mutation SNP C A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:48511051C>A uc010rhx.2 + 0 707 c.707C>A c.(706-708)tCa>tAa p.S236* NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S236*(2) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 AAAGCCCTCTCAACCTGCAGT 0.433000 101 14 1.5842e-08 2.04995e-07 0.000151284 1 0 GNB2L1 10399 broad.mit.edu 37 5 180666103 180666103 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:180666103G>A uc003mni.1 - 4 706 c.600C>T c.(598-600)gtC>gtT p.V200V GNB2L1_uc003mnj.1_Silent_p.V154V|GNB2L1_uc011dhk.1_Silent_p.V200V|GNB2L1_uc010jls.3_3'UTR NM_006098 NP_006089 P63244 GBLP_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA. 200 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) CATCTGGAGAGACAGTCACCG 0.537000 76 44 0 0 0.000781405 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322970 61322970 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:61322970C>T uc002lji.3 - 7 1238 c.1094G>A c.(1093-1095)tGt>tAt p.C365Y SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.C313Y NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 365 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.H364D(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 AGGGTGATTACAATGGAACTC 0.463000 86 27 0 0 0.000586117 0 0 RBM42 79171 broad.mit.edu 37 19 36128163 36128163 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:36128163C>T uc002oan.3 + 8 1315 c.1239C>T c.(1237-1239)atC>atT p.I413I RBM42_uc002oap.3_Silent_p.I383I|RBM42_uc002oaq.3_Silent_p.I384I NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN Homo sapiens RNA binding motif protein 42 (RBM42), mRNA. 413 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus RNA binding|nucleotide binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCAAGGTGATCCGTGACAAGC 0.587000 57 6 0 0 8.12818e-05 0 0 ZFP106 64397 broad.mit.edu 37 15 42743614 42743614 + Missense_Mutation SNP A G G rs139622071 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:42743614A>G uc001zpw.3 - 1 1114 c.787T>C c.(787-789)Tgg>Cgg p.W263R ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.W46R|ZFP106_uc001zpy.1_Missense_Mutation_p.W286R NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 263 nucleolus zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TTCTTGTTCCATAGCATAGTC 0.378000 45 15 0 0 0.000308642 0 0 MC3R 4159 broad.mit.edu 37 20 54824661 54824661 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:54824661C>T uc002xxb.2 + 0 874 c.762C>T c.(760-762)tgC>tgT p.C254C NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 291 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCATCTTCTGCTGGGCCCCCT 0.597000 38 31 0 0 0.000227799 0 0 KDM5A 5927 broad.mit.edu 37 12 438098 438098 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:438098G>A uc001qif.1 - 13 2234 c.1871C>T c.(1870-1872)cCa>cTa p.P624L KDM5A_uc010sdn.1_Missense_Mutation_p.P583L|KDM5A_uc010sdo.1_Missense_Mutation_p.P243L NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 624 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TAAGCATTCTGGATCTGCTGC 0.463000 T NUP98 AML 45 104 0 0 0.000781405 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405530 20405530 + RNA SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:20405530C>T uc002gxb.3 - 4 c.1506G>A Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA. CAATCAGTCCCTGGATCTGGG 0.567000 22 13 0 0 0.000295444 0 0 DDX24 57062 broad.mit.edu 37 14 94545401 94545401 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:94545401T>C uc001ycj.3 - 1 787 c.688A>G c.(688-690)Aaa>Gaa p.K230E DDX24_uc010twq.2_Missense_Mutation_p.K187E|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA. 230 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) ATGTCCAGTTTGTCACGGATG 0.547000 59 27 0 0 0.000147802 0 0 PSKH2 85481 broad.mit.edu 37 8 87076413 87076413 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:87076413C>T uc011lfy.2 - 1 633 c.633G>A c.(631-633)ggG>ggA p.G211G NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN Homo sapiens protein serine kinase H2 (PSKH2), mRNA. 211 Protein kinase. G -> R (in dbSNP:rs36074412). ATP binding|protein serine/threonine kinase activity p.G211W(1) 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) CACTTTTTTTCCCGGAGTATG 0.418000 54 5 0 0 0.000602214 0 0 IL7R 3575 broad.mit.edu 37 5 35876102 35876102 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:35876102C>T uc003jjs.3 + 7 983 c.894C>T c.(892-894)ttC>ttT p.F298F IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 298 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATGTGAGTTTCAATCCTGAAA 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 20 21 0 0 0.000295444 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634311 122634311 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:122634311G>A uc003efz.1 - 13 2268 c.1964C>T c.(1963-1965)gCc>gTc p.A655V SEMA5B_uc011bju.1_Missense_Mutation_p.A597V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.A655V|SEMA5B_uc010hro.1_Missense_Mutation_p.A597V NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 655 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GATGTGGATGGCTGGCCCCAG 0.612000 28 14 0 0 0.000566183 0 0 KRT5 3852 broad.mit.edu 37 12 52913579 52913579 + Missense_Mutation SNP C T T rs58619430 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:52913579C>T uc001san.3 - 0 665 c.502G>A c.(502-504)Gag>Aag p.E168K KRT5_uc009zmh.3_Missense_Mutation_p.E168K NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 168 Coil 1A.|Rod. E -> K (in DM-EBS; dbSNP:rs58619430). 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) TGCTCGCGCTCCTCGGTCCTC 0.507000 80 52 0 0 0.000781405 0 0 PKD2L2 27039 broad.mit.edu 37 5 137228269 137228269 + Silent SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:137228269T>C uc003lby.3 + 2 290 c.234T>C c.(232-234)ttT>ttC p.F78F PKD2L2_uc010jep.1_Silent_p.F18F|PKD2L2_uc003lbw.1_Silent_p.F78F|PKD2L2_uc003lbx.3_Silent_p.F78F NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA. 78 integral to membrane calcium ion binding|ion channel activity p.F78V(1) breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GAACCAACTTTAAGTCCATTC 0.388000 56 33 0 0 0.000191422 0 0 MDH2 4191 broad.mit.edu 37 7 75686799 75686799 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:75686799C>T uc003ueo.3 + 2 393 c.307C>T c.(307-309)Ccc>Tcc p.P103S MDH2_uc011kgh.2_Missense_Mutation_p.P103S|MDH2_uc003uep.3_5'UTR NM_005918 NP_005909 P40926 MDHM_HUMAN Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA. 103 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane L-malate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2) 14 NADH(DB00157) GGCTGGAGTCCCCAGAAAGCC 0.468000 29 27 0 0 0.000339439 0 0 ASTN1 460 broad.mit.edu 37 1 176853551 176853551 + Silent SNP G A A rs150457018 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:176853551G>A uc001glc.3 - 18 3362 c.3150C>T c.(3148-3150)atC>atT p.I1050I ASTN1_uc001glb.1_Silent_p.I1050I|ASTN1_uc001gld.1_Silent_p.I1050I NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1058 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTGCACCCCGATTGGTGGCT 0.547000 71 21 0 0 0.000175454 0 0 MTM1 4534 broad.mit.edu 37 X 149767074 149767074 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:149767074T>C uc004fef.4 + 3 231 c.155T>C c.(154-156)aTa>aCa p.I52T MTM1_uc011mxx.2_Intron|MTM1_uc011mxy.2_Missense_Mutation_p.I52T|MTM1_uc011mxz.2_Intron|MTM1_uc010nte.3_5'UTR NM_000252 NP_000243 Q13496 MTM1_HUMAN Homo sapiens myotubularin 1 (MTM1), mRNA. 52 GRAM. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GTTATTTACATATGTCCTTTC 0.284000 18 31 0 0 0.000814825 0 0 DYSF 8291 broad.mit.edu 37 2 71816787 71816787 + Missense_Mutation SNP A G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:71816787A>G uc010fen.3 + 30 3608 c.3467A>G c.(3466-3468)aAc>aGc p.N1156S DYSF_uc010fei.3_Missense_Mutation_p.N1155S|DYSF_uc010feh.3_Missense_Mutation_p.N1124S|DYSF_uc002sig.4_Missense_Mutation_p.N1124S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.N1169S|DYSF_uc010fee.3_Missense_Mutation_p.N1138S|DYSF_uc010fef.3_Missense_Mutation_p.N1155S|DYSF_uc002sie.3_Missense_Mutation_p.N1138S|DYSF_uc010feo.3_Missense_Mutation_p.N1170S|DYSF_uc010fej.3_Missense_Mutation_p.N1125S|DYSF_uc010fel.3_Missense_Mutation_p.N1125S|DYSF_uc010fem.3_Missense_Mutation_p.N1139S|DYSF_uc002sif.3_Missense_Mutation_p.N1139S|DYSF_uc010fek.3_Missense_Mutation_p.N1156S|DYSF_uc010yqy.2_Missense_Mutation_p.N19S NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1138 C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTCGGTGTGAACAGACCCACG 0.517000 122 8 0 0 6.40141e-05 0 0 SSTR5 6755 broad.mit.edu 37 16 1128917 1128917 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:1128917C>T uc021taf.1 + 1 120 c.49C>T c.(49-51)Ccg>Tcg p.P17S LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.P17S NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 17 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CGCCTCCTCCCCGGGGGCTGC 0.726000 4 4 0 0 0.000602214 0 0 OR7C1 26664 broad.mit.edu 37 19 14910268 14910268 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:14910268C>T uc010xnz.2 - 0 681 c.681G>A c.(679-681)agG>agA p.R227R NM_198944 NP_945182 O76099 OR7C1_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA. 227 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 CTGAGGAAATCCTCAGTATAG 0.438000 35 30 0 0 0.000184323 0 0 RPL23P8 222901 broad.mit.edu 37 7 20866954 20866954 + RNA SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:20866954C>T uc011jyj.1 + 0 c.38C>T Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA. GATGTGGAAGCGAGGACGTGG 0.423000 13 4 0 0 0.000602214 0 0 ZNF479 90827 broad.mit.edu 37 7 57200000 57200000 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:57200000C>T uc010kzo.3 - 1 303 c.32G>A c.(31-33)cGa>cAa p.R11Q NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CACCATTTCTCGGCTTCCAGG 0.552000 33 36 0 0 0.000228196 0 0 CFTR 1080 broad.mit.edu 37 7 117232675 117232675 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:117232675G>A uc003vjd.3 + 13 2586 c.2454G>A c.(2452-2454)ttG>ttA p.L818L CFTR_uc011knq.2_Silent_p.L224L NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 818 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AAACTGGCTTGGAAATAAGTG 0.403000 Cystic Fibrosis 33 34 0 0 0.000491102 0 0 ASH1L 55870 broad.mit.edu 37 1 155448249 155448249 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:155448249G>A uc009wqq.3 - 2 4892 c.4412C>T c.(4411-4413)cCt>cTt p.P1471L ASH1L_uc001fkt.3_Missense_Mutation_p.P1471L|ASH1L_uc009wqr.1_Missense_Mutation_p.P1471L NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 1471 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGCCATCTCAGGAGGAACACT 0.483000 78 16 0 0 0.000958276 0 0 HSPB3 8988 broad.mit.edu 37 5 53751781 53751781 + Silent SNP T A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:53751781T>A uc003jph.2 + 0 351 c.162T>A c.(160-162)ccT>ccA p.P54P NM_006308 NP_006299 Q12988 HSPB3_HUMAN Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA. 54 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) CGCAGTCTCCTCCAGTGGACT 0.562000 25 75 0 0 0.000781405 0 0 DNER 92737 broad.mit.edu 37 2 230377642 230377642 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:230377642G>A uc002vpv.3 - 5 1151 c.1004C>T c.(1003-1005)tCc>tTc p.S335F DNER_uc010zly.1_Missense_Mutation_p.S63F NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 335 EGF-like 3. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACAGGTACAGGAAAAAGTTGC 0.438000 28 13 0 0 0.000151284 0 0 ABLIM1 3983 broad.mit.edu 37 10 116361657 116361657 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:116361657C>T uc021pyx.1 - 1 407 c.308G>A c.(307-309)gGg>gAg p.G103E ABLIM1_uc021pyw.1_Missense_Mutation_p.G103E|ABLIM1_uc021pyy.1_Missense_Mutation_p.G43E|ABLIM1_uc021pyz.1_Missense_Mutation_p.G37E|ABLIM1_uc021pza.1_Missense_Mutation_p.G43E|ABLIM1_uc021pze.1_Missense_Mutation_p.G27E|ABLIM1_uc021pzf.1_Missense_Mutation_p.G37E|ABLIM1_uc001lbz.1_Missense_Mutation_p.G26E NM_002313 NP_002304 O14639 ABLM1_HUMAN Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA. 103 LIM zinc-binding 1. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GCAAGGCTCCCCACATTTATG 0.512000 44 8 0 0 0.000274275 0 0 TRIM10 10107 broad.mit.edu 37 6 30128351 30128351 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:30128351C>T uc003npo.3 - 0 361 c.285G>A c.(283-285)gaG>gaA p.E95E TRIM10_uc003npn.2_Silent_p.E95E|TRIM15_uc010jrx.3_5'Flank NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 95 cytoplasm zinc ion binding ovary(1) 1 AGACATCCTCCTCTCCCAAAC 0.587000 154 22 0 0 0.000295444 0 0 SLC6A20 54716 broad.mit.edu 37 3 45814059 45814059 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:45814059G>A uc011bai.2 - 4 755 c.631C>T c.(631-633)Ctc>Ttc p.L211F SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 211 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CCCCTGATGAGGTAGATGATG 0.622000 22 7 0 0 0.000442599 0 0 TRIM58 25893 broad.mit.edu 37 1 248039677 248039677 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:248039677C>T uc001ido.3 + 5 1395 c.1347C>T c.(1345-1347)ttC>ttT p.F449F OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 449 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTTACTTTTTCATCTGTGATG 0.423000 56 53 0 0 0.000781405 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835087 12835087 + Missense_Mutation SNP C A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:12835087C>A uc001aui.3 + 0 104 c.77C>A c.(76-78)cCc>cAc p.P26H NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 26 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCCATCCCCACCCTGGAG 0.592000 26 37 6.53348e-20 8.53114e-19 0.000692331 1 0 PLCH1 23007 broad.mit.edu 37 3 155200266 155200266 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:155200266C>T uc021xge.1 - 22 3850 c.3573G>A c.(3571-3573)gaG>gaA p.E1191E PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.E1153E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1191 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AACTGCCCGGCTCATTCTCAT 0.433000 37 17 0 0 0.000566183 0 0 SH3BP4 23677 broad.mit.edu 37 2 235943748 235943748 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:235943748C>T uc002vvp.3 + 2 495 c.102C>T c.(100-102)agC>agT p.S34S SH3BP4_uc010fym.3_Silent_p.S34S|SH3BP4_uc002vvq.3_Silent_p.S34S NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA. 34 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CAGAGACGAGCTTTAATGACA 0.527000 44 19 0 0 0.000375601 0 0 FAM5C 339479 broad.mit.edu 37 1 190195314 190195314 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:190195314G>A uc001gse.1 - 5 1091 c.859C>T c.(859-861)Cca>Tca p.P287S FAM5C_uc010pot.1_Missense_Mutation_p.P185S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 287 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) TTGCATTCTGGAAATTTGGGA 0.438000 35 34 0 0 0.000814825 0 0 LOXL2 4017 broad.mit.edu 37 8 23225594 23225594 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:23225594G>A uc003xdh.1 - 1 610 c.271C>T c.(271-273)Cac>Tac p.H91Y NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA. 91 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TGGGCAGCGTGGATGGAGAAG 0.642000 49 16 0 0 0.000422831 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70958868 70958868 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:70958868C>T uc001jpe.1 + 9 1268 c.1213C>T c.(1213-1215)Ctt>Ttt p.L405F SUPV3L1_uc010qjd.1_Missense_Mutation_p.L274F NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA. 405 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGGGACCAAACTTGCTCAAGC 0.353000 31 15 0 0 0.000308642 0 0 FTSJD2 23070 broad.mit.edu 37 6 37411865 37411865 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:37411865C>T uc003ons.3 + 2 477 c.224C>T c.(223-225)tCt>tTt p.S75F FTSJD2_uc010jwu.2_Missense_Mutation_p.S75F NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA. 75 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 AAAGCAGACTCTCTTGTGGAA 0.468000 80 353 0 0 0.000781405 0 0 OR5M9 390162 broad.mit.edu 37 11 56230195 56230195 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:56230195G>A uc010rjj.2 - 0 683 c.683C>T c.(682-684)tCt>tTt p.S228F OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GCCATCGGCAGAGCGCATGCG 0.498000 17 7 0 0 8.12818e-05 0 0 TLR7 51284 broad.mit.edu 37 X 12905795 12905795 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:12905795G>A uc004cvc.3 + 2 2307 c.2168G>A c.(2167-2169)aGa>aAa p.R723K NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 723 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|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-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AACTGTTCCAGAAGCCTCAAG 0.428000 22 52 0 0 0.000781405 0 0 SPNS3 201305 broad.mit.edu 37 17 4356364 4356364 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:4356364G>A uc002fxt.3 + 7 1021 c.977G>A c.(976-978)gGg>gAg p.G326E SPNS3_uc002fxu.3_Missense_Mutation_p.G199E NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 326 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 GTCATCTTGGGGGCAGAAGCT 0.592000 67 48 0 0 0.000781405 0 0 OR10J3 441911 broad.mit.edu 37 1 159283707 159283708 + Missense_Mutation DNP AC TT TT TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:159283707_159283708AC>TT uc010piu.2 - 0 742_743 c.742_743GT>AA c.(742-744)gtg>AAg p.V248K NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T247R(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GATGATGACCACTGTGAGGTGG 0.515000 62 17 0 0 6.4e-05 0 0 ZNF277 11179 broad.mit.edu 37 7 111846826 111846826 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:111846826G>A uc003vge.2 + 0 184 c.55G>A c.(55-57)Ggg>Agg p.G19R DOCK4_uc003vfx.3_5'Flank|DOCK4_uc003vfy.3_5'Flank|DOCK4_uc003vga.1_5'Flank|DOCK4_uc010ljt.1_5'Flank|ZNF277_uc003vgd.3_Missense_Mutation_p.G19R|ZNF277_uc003vgf.2_5'UTR|ZNF277_uc003vgc.3_Missense_Mutation_p.G19R NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN Homo sapiens zinc finger protein 277 (ZNF277), mRNA. 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G19G(1) breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 AGACCGTGATGGGAGCTGCAG 0.632000 45 11 0 0 0.000308642 0 0 MB 4151 broad.mit.edu 37 22 36003387 36003387 + Missense_Mutation SNP T G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:36003387T>G uc003anz.3 - 2 502 c.422A>C c.(421-423)aAg>aCg p.K141T MB_uc003aoa.3_Missense_Mutation_p.K141T|MB_uc003aob.3_Missense_Mutation_p.K141T NM_005368 NP_976312 P02144 MYG_HUMAN Homo sapiens myoglobin (MB), transcript variant 1, mRNA. 141 heme binding|oxygen transporter activity lung(1) 1 GGCCATGTCCTTCCGGAACAG 0.632000 34 15 0 0 0.000422831 0 0 TCR-alpha 0 broad.mit.edu 37 14 22337313 22337313 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:22337313G>A uc021rpg.1 + 1 167 c.104G>A c.(103-105)gGa>gAa p.G35E TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85. GTCCAGGAGGGAGACAGCGCT 0.438000 43 21 0 0 0.000132079 0 0 SBK2 646643 broad.mit.edu 37 19 56047472 56047472 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:56047472C>T uc010ygc.2 - 1 205 c.190G>A c.(190-192)Gaa>Aaa p.E64K NM_001101401 NP_001094871 P0C263 SBK2_HUMAN Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA. 64 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GGACGCACTTCCTCGTAGAGC 0.662000 14 14 0 0 0.000422831 0 0 GPC5 2262 broad.mit.edu 37 13 92345598 92345598 + Missense_Mutation SNP A T T rs144683011 byFrequency TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:92345598A>T uc010tif.2 + 2 849 c.483A>T c.(481-483)gaA>gaT p.E161D NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 161 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATCCTGAAGAATTTGTAAACA 0.453000 76 26 0 0 0.000184323 0 0 LILRA1 11024 broad.mit.edu 37 19 55086450 55086450 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:55086450C>T uc010ern.3 + 4 1074 c.605C>T c.(604-606)tCt>tTt p.S202F LILRA1_uc002qgg.4_Missense_Mutation_p.S202F|LILRA1_uc002qgf.3_Missense_Mutation_p.S202F|LILRA1_uc010yfe.1_Missense_Mutation_p.S202F|LILRA1_uc010yff.1_Missense_Mutation_p.S190F|LILRA1_uc010ero.3_Missense_Mutation_p.S190F|LILRA1_uc010yfg.1_Missense_Mutation_p.S202F O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 204 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GACTCGAACTCTCCCTATGTG 0.577000 115 20 0 0 0.000295444 0 0 UNC13D 201294 broad.mit.edu 37 17 73835948 73835948 + Missense_Mutation SNP C T T rs150442758 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:73835948C>T uc002jpp.3 - 11 1407 c.1027G>A c.(1027-1029)Gac>Aac p.D343N UNC13D_uc010wsk.1_Missense_Mutation_p.D343N|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.D140N NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 343 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TCGGATAGGTCCTTCTGTGTG 0.667000 Familial Hemophagocytic Lymphohistiocytosis 75 12 0 0 0.00010058 0 0 NT5E 4907 broad.mit.edu 37 6 86180955 86180955 + Splice_Site SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:86180955G>A uc003pko.4 + 3 1119 c.563_splice c.e3-1 p.G188_splice NT5E_uc003pkn.3_Splice_Site_p.G188_splice|NT5E_uc010kbr.3_Splice_Site_p.G188_splice NM_002526 NP_002517 P21589 5NTD_HUMAN Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA. 188 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) tGTTCCTTAGGGACAAATTTA 0.254000 10 4 0 0 0.00024832 0 0 NHSL2 340527 broad.mit.edu 37 X 71359490 71359490 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:71359490G>A uc011mqa.2 + 5 2092 c.2092G>A c.(2092-2094)Gag>Aag p.E698K NHSL2_uc004eak.1_Missense_Mutation_p.E332K|NHSL2_uc010nli.2_Missense_Mutation_p.E467K NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 698 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GGAGGCCAGGGAGATATCATC 0.577000 7 15 0 0 0.000566183 0 0 NKX2-2 4821 broad.mit.edu 37 20 21493043 21493043 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:21493043T>C uc002wsi.3 - 1 697 c.340A>G c.(340-342)Aat>Gat p.N114D NM_002509 NP_002500 O95096 NKX22_HUMAN Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA. 114 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TCCTTGTCATTGTCCGGTGAC 0.697000 19 13 0 0 0.000151284 0 0 CEP70 80321 broad.mit.edu 37 3 138227295 138227295 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:138227295G>T uc003esl.3 - 11 1234 c.1036C>A c.(1036-1038)Cag>Aag p.Q346K CEP70_uc011bmk.2_Missense_Mutation_p.Q326K|CEP70_uc011bml.2_Missense_Mutation_p.Q328K|CEP70_uc011bmm.2_Missense_Mutation_p.Q194K|CEP70_uc003esm.3_Missense_Mutation_p.Q346K NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 346 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 AAGTATCTCTGGTCAATTAGG 0.363000 453 13 0.000422831 0.00523558 0.000422831 1 0 CUX2 23316 broad.mit.edu 37 12 111652026 111652026 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:111652026C>T uc001tsa.2 + 1 240 c.86C>T c.(85-87)tCt>tTt p.S29F CUX2_uc001tsb.2_Missense_Mutation_p.S84F NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 29 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 TCCGTCGCTTCTGAGCTGTCT 0.353000 69 6 0 0 3.59834e-05 0 0 FILIP1 27145 broad.mit.edu 37 6 76023417 76023417 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:76023417G>A uc010kbe.3 - 5 2670 c.2140C>T c.(2140-2142)Cgg>Tgg p.R714W FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.3_Missense_Mutation_p.R612W|FILIP1_uc003pia.3_Missense_Mutation_p.R711W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 711 p.R711W(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTTCCAACCGAAATCTGTGT 0.413000 143 55 0 0 0.000781405 0 0 PSMF1 9491 broad.mit.edu 37 20 1115875 1115875 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:1115875C>T uc002wel.4 + 4 645 c.477C>T c.(475-477)ccC>ccT p.P159P PSMF1_uc010zpo.2_Silent_p.P71P|PSMF1_uc010zpp.2_Intron|PSMF1_uc002wen.4_Silent_p.P159P|PSMF1_uc002wep.4_Silent_p.P110P NM_178578 NP_848693 Q92530 PSMF1_HUMAN Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA. 159 Pro-rich. 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|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 proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 GGGAGTTCCCCCCTGCTACCG 0.582000 17 18 0 0 0.000958276 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419276 37419276 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:37419276C>T uc021ppc.1 + 2 411 c.312C>T c.(310-312)tcC>tcT p.S104S ANKRD30A_uc001iza.1_Silent_p.S104S NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 160 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 AACTGCTGTCCCATGGTGCAG 0.378000 21 6 0 0 0.000157383 0 0 PTCD2 79810 broad.mit.edu 37 5 71622533 71622533 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:71622533G>A uc003kcb.3 + 2 325 c.315G>A c.(313-315)cgG>cgA p.R105R 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. 105 p.R105Q(1) 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) GTGAGTCTCGGGACCATGTGG 0.413000 54 44 0 0 0.000781405 0 0 CSMD3 114788 broad.mit.edu 37 8 113504731 113504731 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:113504731C>T uc003ynu.3 - 30 5424 c.5265G>A c.(5263-5265)ttG>ttA p.L1755L CSMD3_uc003yns.3_Silent_p.L1027L|CSMD3_uc003ynt.3_Silent_p.L1715L|CSMD3_uc011lhx.2_Silent_p.L1651L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1755 Sushi 9. 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 GACAACTTGGCAAGGCTCTAT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 79 16 0 0 0.000566183 0 0 ACO1 48 broad.mit.edu 37 9 32407274 32407274 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:32407274C>T uc003zqw.4 + 2 268 c.113C>T c.(112-114)tCg>tTg p.S38L ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.4_Missense_Mutation_p.S38L|ACO1_uc003zqy.4_Non-coding_Transcript NM_002197 NP_002188 P21399 ACOC_HUMAN Homo sapiens aconitase 1, soluble (ACO1), mRNA. 38 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) TTACCATTTTCGATCAGAGTT 0.383000 59 13 0 0 0.000308642 0 0 SERPINB7 8710 broad.mit.edu 37 18 61460426 61460426 + Missense_Mutation SNP T G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:61460426T>G uc002ljl.3 + 3 347 c.251T>G c.(250-252)tTt>tGt p.F84C SERPINB7_uc002ljm.3_Missense_Mutation_p.F84C|SERPINB7_uc010xet.2_Missense_Mutation_p.F67C|SERPINB7_uc010dqg.3_Missense_Mutation_p.F84C NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 84 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) AAAAGAGTTTTTTCTGATATA 0.343000 49 17 0 0 0.000566183 0 0 BLZF1 8548 broad.mit.edu 37 1 169347625 169347625 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:169347625C>T uc001gfx.2 + 3 963 c.526C>T c.(526-528)Cac>Tac p.H176Y BLZF1_uc001gfy.3_Missense_Mutation_p.H176Y|BLZF1_uc009wvp.1_Missense_Mutation_p.H153Y NM_003666 NP_003657 Q9H2G9 GO45_HUMAN Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA. 176 Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) TCTTCAGTATCACTTTGAACG 0.388000 60 49 0 0 0.000781405 0 0 MICALL1 85377 broad.mit.edu 37 22 38323801 38323801 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:38323801C>T uc003aui.3 + 8 2124 c.1849C>T c.(1849-1851)Cct>Tct p.P617S NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 617 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GGTGCCTTCCCCTGGAAGCTC 0.632000 37 31 0 0 0.00058488 0 0 HADHB 3032 broad.mit.edu 37 2 26501519 26501519 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:26501519C>T uc002rgz.3 + 7 731 c.480C>T c.(478-480)atC>atT p.I160I HADHB_uc010ykv.2_Silent_p.I138I|HADHB_uc010ykw.2_Silent_p.I145I|HADHB_uc010ykx.2_Silent_p.I86I NM_000183 NP_000174 P55084 ECHB_HUMAN Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA. 160 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGATGTGATCGTGGCAGGTG 0.423000 102 34 0 0 0.000437636 0 0 NRG3 10718 broad.mit.edu 37 10 84118519 84118519 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:84118519G>A uc021pvc.1 + 1 875 c.848G>A c.(847-849)cGa>cAa p.R283Q NRG3_uc010qlz.1_Missense_Mutation_p.R283Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R283Q|NRG3_uc001kcp.2_Missense_Mutation_p.R62Q|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Missense_Mutation_p.R62Q|NRG3_uc021pve.1_Missense_Mutation_p.R87Q|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Missense_Mutation_p.R87Q|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.R113Q|NRG3_uc021pvk.1_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 283 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 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) TCCACAGAGCGATCCGAGCAC 0.517000 34 18 0 0 0.000958276 0 0 TARBP1 6894 broad.mit.edu 37 1 234565942 234565942 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:234565942G>A uc001hwd.3 - 14 2500 c.2500C>T c.(2500-2502)Cat>Tat p.H834Y NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 834 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GGCCCAGCATGGAGAGAGTCC 0.557000 64 40 0 0 0.000191422 0 0 PI4KB 5298 broad.mit.edu 37 1 151278757 151278757 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:151278757C>T uc001exr.3 - 5 1940 c.1301G>A c.(1300-1302)cGa>cAa p.R434Q PI4KB_uc001exs.3_Missense_Mutation_p.R407Q|PI4KB_uc001exu.3_Missense_Mutation_p.R407Q|PI4KB_uc010pcw.2_Missense_Mutation_p.R90Q|PI4KB_uc001ext.3_Missense_Mutation_p.R422Q NM_002651 NP_001185704 Q9UBF8 PI4KB_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA. 422 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACTCCGAATTCGGTTCTCGGG 0.527000 35 21 0 0 0.000586117 0 0 SMCHD1 23347 broad.mit.edu 37 18 2688411 2688411 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:2688411C>T uc002klm.4 + 5 847 c.658C>T c.(658-660)Cgt>Tgt p.R220C NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 220 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AGGATATGTTCGTCCAGTACC 0.373000 74 21 0 0 0.000375601 0 0 TCF3 6929 broad.mit.edu 37 19 1622363 1622363 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:1622363G>A uc002ltr.3 - 8 670 c.601C>T c.(601-603)Ccg>Tcg p.P201S TCF3_uc002lto.3_5'Flank|TCF3_uc002ltt.4_Missense_Mutation_p.P201S|TCF3_uc002ltq.3_Missense_Mutation_p.P150S|TCF3_uc002lts.1_Missense_Mutation_p.P117S|TCF3_uc010dso.1_5'Flank NM_003200 NP_003191 P15923 TFE2_HUMAN Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA. 201 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGCGGACGGGTAGGCGGTG 0.716000 T """PBX1, HLF, TFPT""" pre B-ALL 8 6 0 0 0.000442599 0 0 RNF38 152006 broad.mit.edu 37 9 36357773 36357773 + Splice_Site SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:36357773G>A uc003zzh.3 - 5 929 c.738_splice c.e5+1 p.P246_splice RNF38_uc003zzi.3_Splice_Site_p.P196_splice|RNF38_uc003zzj.3_Splice_Site_p.P163_splice|RNF38_uc003zzk.3_Splice_Site_p.P163_splice|RNF38_uc003zzl.3_Splice_Site_p.P170_splice|RNF38_uc003zzm.3_Splice_Site_p.P163_splice NM_022781 NP_919313 Q9H0F5 RNF38_HUMAN Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA. 246 Pro-rich. zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) GAGACTTACTGGAGGAGGCAC 0.483000 21 6 0 0 8.12818e-05 0 0 ASB10 136371 broad.mit.edu 37 7 150873287 150873287 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:150873287C>T uc003wjm.1 - 4 1577 c.1316G>A c.(1315-1317)gGc>gAc p.G439D ASB10_uc003wjl.1_Missense_Mutation_p.G401D|ASB10_uc003wjn.1_Missense_Mutation_p.G424D NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA. 439 SOCS box. intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGCAGGCTGCCCTCCAGGTG 0.667000 18 28 0 0 0.000279167 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 39913 39913 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrGL000218.1:39913C>T uc011mfn.2 - 3 493 c.404G>A c.(403-405)cGg>cAg p.R135Q LOC100233156_uc003jah.2_Missense_Mutation_p.R135Q Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. CATGTTGGGCCGGTGTGAGAG 0.622000 19 6 0 0 8.12818e-05 0 0 TACC2 10579 broad.mit.edu 37 10 123843922 123843922 + Missense_Mutation SNP C T T rs113893072 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:123843922C>T uc001lfv.3 + 3 2267 c.1907C>T c.(1906-1908)cCc>cTc p.P636L TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P636L|TACC2_uc010qtv.2_Missense_Mutation_p.P636L NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 636 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) GCACAGCCACCCAGAAAGGGG 0.592000 23 8 0 0 0.000157383 0 0 POMGNT1 55624 broad.mit.edu 37 1 46657986 46657986 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:46657986C>T uc001cpg.3 - 15 2058 c.1407G>A c.(1405-1407)ccG>ccA p.P469P POMGNT1_uc010olx.2_Silent_p.P447P|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Silent_p.P326P|POMGNT1_uc001cpe.3_Silent_p.P469P|POMGNT1_uc001cpf.3_Silent_p.P136P|POMGNT1_uc001cph.1_Silent_p.P47P|POMGNT1_uc001cpi.1_Silent_p.P136P NM_001243766 NP_001230695 Q8WZA1 PMGT1_HUMAN Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA. 469 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) TTACCTTTTCCGGTGTAGGCC 0.572000 42 23 0 0 0.00047179 0 0 KRT9 3857 broad.mit.edu 37 17 39723595 39723595 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:39723595C>T uc002hxe.4 - 6 1868 c.1802G>A c.(1801-1803)gGa>gAa p.G601E JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 601 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) ttcaccgcctccgtagctgcc 0.562000 29 5 0 0 0.000602214 0 0 GFRAL 389400 broad.mit.edu 37 6 55223697 55223697 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:55223697G>T uc003pcm.1 + 5 799 c.713G>T c.(712-714)aGa>aTa p.R238I NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 238 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGCACTATAGAACATTTCAG 0.388000 78 9 1.76689e-08 2.2795e-07 0.000442599 1 0 FMNL1 752 broad.mit.edu 37 17 43309832 43309832 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:43309832G>A uc002iin.3 + 2 512 c.312G>A c.(310-312)tgG>tgA p.W104* FMNL1_uc002iio.3_Intron|FMNL1_uc002iip.1_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 104 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 CAGCTGATTGGATGTCCAACC 0.527000 23 9 0 0 0.000673444 0 0 SNX33 257364 broad.mit.edu 37 15 75941869 75941869 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:75941869C>T uc002bau.3 + 0 522 c.426C>T c.(424-426)ccC>ccT p.P142P IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'Flank NM_153271 NP_695003 Q8WV41 SNX33_HUMAN Homo sapiens sorting nexin 33 (SNX33), mRNA. 142 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GGCACCCTCCCCTCAACCTCT 0.647000 19 11 0 0 6.40141e-05 0 0 RP1 6101 broad.mit.edu 37 8 55533756 55533756 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:55533756C>T uc003xsd.1 + 1 378 c.230C>T c.(229-231)cCt>cTt p.P77L RP1_uc011ldy.1_Missense_Mutation_p.P77L NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 77 Doublecortin 1. 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 p.L76L(1) 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) GTGCCCCTCCCTTTTGGAGTG 0.612000 66 29 0 0 0.000814825 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408579 2408579 + Silent SNP C A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:2408579C>A uc010xgx.2 + 6 966 c.966C>A c.(964-966)ccC>ccA p.P322P TMPRSS9_uc002lvv.1_Silent_p.P356P NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 322 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity p.P322T(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) TCTTCCCACCCAGCAAGAAGT 0.627000 68 6 0.000157383 0.00196569 0.000157383 1 0 ALPK1 80216 broad.mit.edu 37 4 113356441 113356441 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:113356441G>A uc003ian.4 + 11 3399 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K ALPK1_uc003iap.4_Missense_Mutation_p.E1058K|ALPK1_uc011cfx.2_Missense_Mutation_p.E980K|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E886K NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 1058 Alpha-type protein kinase. 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) TCTTCATCAAGAAGAAATTCT 0.378000 148 79 0 0 0.000781405 0 0 N4BP2 55728 broad.mit.edu 37 4 40123006 40123006 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:40123006T>C uc003guy.4 + 8 3613 c.3275T>C c.(3274-3276)cTt>cCt p.L1092P N4BP2_uc010ifq.3_Missense_Mutation_p.L1012P|N4BP2_uc010ifr.3_Missense_Mutation_p.L1012P NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA. 1092 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding p.N1091D(2) breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TCTGAAAATCTTAACATTCTT 0.348000 42 71 0 0 0.000781405 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182898843 182898843 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:182898843C>T uc001gpu.3 - 5 1406 c.1121G>A c.(1120-1122)gGa>gAa p.G374E SHCBP1L_uc001gpv.3_Missense_Mutation_p.G255E|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G232E|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G94E NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA. 446 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TTCTCTTTTTCCTTTCCTACG 0.274000 60 41 0 0 0.000781405 0 0 SPZ1 84654 broad.mit.edu 37 5 79616163 79616163 + RNA SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:79616163C>T uc011ctk.1 - 1 c.1352G>A SPZ1_uc003kgn.3_Silent_p.S43S Q9BXG8 SPZ1_HUMAN Homo sapiens cDNA FLJ25709 fis, clone TST04944. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) GATCACATTCCCCTTCCTCCT 0.428000 124 20 0 0 0.000175454 0 0 KIAA1033 23325 broad.mit.edu 37 12 105550525 105550525 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:105550525G>A uc010swr.2 + 26 2870 c.2783G>A c.(2782-2784)cGa>cAa p.R928Q KIAA1033_uc001tld.3_Missense_Mutation_p.R927Q|KIAA1033_uc010sws.2_Missense_Mutation_p.R739Q NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 927 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GGCTATGTACGAATGATAAGA 0.313000 91 15 0 0 0.000132079 0 0 EDF1 8721 broad.mit.edu 37 9 139757824 139757824 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:139757824G>A uc004cjt.1 - 2 235 c.207C>T c.(205-207)caC>caT p.H69H EDF1_uc022bpv.1_Silent_p.H69H|EDF1_uc004cju.1_Silent_p.H69H NM_003792 NP_003783 O60869 EDF1_HUMAN Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA. 69 Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1. endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCTGTCATGGTGCAGCTCCT 0.612000 23 5 0 0 3.59834e-05 0 0 ZNF142 7701 broad.mit.edu 37 2 219507131 219507131 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:219507131C>T uc002vin.3 - 7 4544 c.4108G>A c.(4108-4110)Gat>Aat p.D1370N ZNF142_uc002vil.3_Missense_Mutation_p.D1331N|ZNF142_uc010fvt.3_Missense_Mutation_p.D1207N|ZNF142_uc002vim.3_Missense_Mutation_p.D1207N NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CGGTGCTCATCCAGAGCCAGT 0.637000 37 21 0 0 0.000295444 0 0 GPC2 221914 broad.mit.edu 37 7 99769797 99769798 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:99769797_99769798GG>AA uc003utv.3 - 5 1103_1104 c.935_936CC>TT c.(934-936)tcc>tTT p.S312F GPC2_uc010lgr.3_Non-coding_Transcript NM_152742 NP_689955 Q8N158 GPC2_HUMAN Homo sapiens glypican 2 (GPC2), mRNA. 312 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCAGCTCAAAGGAAAAGGGGCC 0.540000 52 8 0 0 6.4e-05 0 0 RNF40 9810 broad.mit.edu 37 16 30783228 30783229 + Nonsense_Mutation DNP CC TT TT TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:30783228_30783229CC>TT uc002dzq.3 + 17 3481_3482 c.2661_2662CC>TT c.(2659-2664)atccag>atTTag p.Q888* RNF40_uc010caa.3_Nonsense_Mutation_p.Q888*|RNF40_uc010cab.3_Nonsense_Mutation_p.Q788*|RNF40_uc010vfa.2_Nonsense_Mutation_p.Q220*|RNF40_uc010vfb.2_Nonsense_Mutation_p.Q580*|RNF40_uc002dzr.3_Nonsense_Mutation_p.Q888*|RNF40_uc010vfc.1_Nonsense_Mutation_p.Q220* NM_014771 NP_055586 O75150 BRE1B_HUMAN Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA. 888 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) TGCGGGAGATCCAGCCCTGCCT 0.649000 28 16 0 0 6.4e-05 0 0 DKFZp686O16217 0 broad.mit.edu 37 14 106054658 106054658 + Silent SNP T G G rs114771275 by1000genomes TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:106054658T>G uc001yrt.3 - 1 124 c.93A>C c.(91-93)gcA>gcC p.A31A abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment; GGACCAGGCATGCGACGACCA 0.622000 42 4 0 0 0.00024832 0 0 SH3BGR 6450 broad.mit.edu 37 21 40834351 40834351 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:40834351C>T uc002yya.3 + 1 339 c.285C>T c.(283-285)atC>atT p.I95I SH3BGR_uc002yxz.3_5'UTR NM_007341 NP_001001713 P55822 SH3BG_HUMAN Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA. 95 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) CGAATAAAATCGACTTTAAGG 0.368000 63 16 0 0 0.000132079 0 0 HECW1 23072 broad.mit.edu 37 7 43477638 43477638 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:43477638G>A uc003tid.1 + 8 1443 c.838G>A c.(838-840)Gaa>Aaa p.E280K HECW1_uc011kbi.1_Missense_Mutation_p.E280K|HECW1_uc003tie.1_Missense_Mutation_p.E312K NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 280 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TGACGTGCTGGAAATTGAGGT 0.498000 80 72 0 0 0.000781405 0 0 HIC2 23119 broad.mit.edu 37 22 21800594 21800594 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:21800594C>T uc002zur.4 + 2 1640 c.1410C>T c.(1408-1410)ttC>ttT p.F470F HIC2_uc002zus.4_Silent_p.F470F NM_015094 NP_055909 Q96JB3 HIC2_HUMAN Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA. 470 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) AAGAGCTGTTCATCAAGGAAG 0.637000 37 12 0 0 0.000219431 0 0 EIF4A3 9775 broad.mit.edu 37 17 78113496 78113496 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:78113496C>T uc010wuc.2 - 6 632 c.559G>A c.(559-561)Gat>Aat p.D187N EIF4A3_uc002jxs.3_Missense_Mutation_p.D187N NM_014740 NP_055555 P38919 IF4A3_HUMAN Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA. 187 Helicase ATP-binding. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TCAGCTTCATCCAAAACCAAC 0.323000 59 30 0 0 0.000279167 0 0 LCLAT1 253558 broad.mit.edu 37 2 30682518 30682519 + Missense_Mutation DNP CC AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:30682518_30682519CC>AA uc002rnj.3 + 1 249_250 c.40_41CC>AA c.(40-42)cca>AAa p.P14K LCLAT1_uc010ymp.2_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.P14K|LCLAT1_uc002rnl.3_Intron|LCLAT1_uc010ymq.2_5'UTR NM_182551 NP_001002257 Q6UWP7 LCLT1_HUMAN Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA. 14 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.P14Q(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 GCTTCTGAACCCATGGTCAATT 0.431000 352 10 0 0 6.4e-05 0 0 IL1R1 3554 broad.mit.edu 37 2 102781300 102781300 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:102781300C>T uc002tbq.3 + 3 446 c.128C>T c.(127-129)cCc>cTc p.P43L IL1R1_uc010fix.3_Missense_Mutation_p.P43L|IL1R1_uc002tbr.3_Missense_Mutation_p.P43L NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 43 Ig-like C2-type 1. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GATGTTCGTCCCTGTCCTCTT 0.368000 57 22 0 0 0.000878237 0 0 ASXL1 171023 broad.mit.edu 37 20 31024546 31024546 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:31024546C>T uc021wbw.1 + 12 4463 c.4031C>T c.(4030-4032)tCc>tTc p.S1344F ASXL1_uc002wxs.3_Missense_Mutation_p.S1343F|ASXL1_uc010geb.3_Missense_Mutation_p.S1235F NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 1344 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGCACAAACTCCATGTCTGGT 0.572000 """F, N, Mis""" """MDS, CMML""" 68 12 0 0 0.000151284 0 0 ABCB5 340273 broad.mit.edu 37 7 20725337 20725337 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:20725337G>A uc010kuh.3 + 15 2125 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K ABCB5_uc003suw.4_Missense_Mutation_p.E185K NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 185 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 AAAAGCTGATGAACAGATGGA 0.348000 32 23 0 0 0.00047179 0 0 AHDC1 27245 broad.mit.edu 37 1 27874537 27874537 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:27874537G>C uc021ojw.1 - 0 4090 c.4090C>G c.(4090-4092)Cac>Gac p.H1364D AHDC1_uc009vsy.3_Missense_Mutation_p.H1364D|AHDC1_uc009vsz.1_Missense_Mutation_p.H1364D NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA. 1364 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGTCGCAGTGGAAGCCTTGG 0.647000 36 21 0 0 0.000132079 0 0 IL15RA 3601 broad.mit.edu 37 10 6002363 6002363 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:6002363C>T uc021pmo.1 - 4 822 c.808G>A c.(808-810)Gaa>Aaa p.E270K IL15RA_uc010qau.2_Missense_Mutation_p.E151K|IL15RA_uc021pmp.1_Missense_Mutation_p.E121K|IL15RA_uc001iiv.3_Missense_Mutation_p.E184K|IL15RA_uc001iiw.3_Missense_Mutation_p.E148K|IL15RA_uc001iiy.3_Missense_Mutation_p.E32K NM_001243539 NP_001230468 Q13261 I15RA_HUMAN Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA. 184 cell proliferation Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 GCTGTGAGTTCCCAGTTCTTG 0.572000 58 21 0 0 0.00047179 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724651 38724651 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:38724651G>A uc001wum.1 - 0 924 c.577C>T c.(577-579)Cgc>Tgc p.R193C NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 193 integral to membrane sugar binding p.R193C(2)|p.R193R(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AAGGGCGCGCGATAGCTCAAG 0.647000 26 20 0 0 0.000958276 0 0 CHD9 80205 broad.mit.edu 37 16 53190375 53190376 + Missense_Mutation DNP GG TT TT TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:53190375_53190376GG>TT uc002ehb.3 + 0 538_539 c.374_375GG>TT c.(373-375)tgg>tTT p.W125F CHD9_uc002egy.3_Missense_Mutation_p.W125F|CHD9_uc002egz.1_Missense_Mutation_p.W125F|CHD9_uc002ehc.3_Missense_Mutation_p.W125F NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 125 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AGTCCAATGTGGGGCCATCAGA 0.416000 175 10 0 0 6.4e-05 0 0 DNAH11 8701 broad.mit.edu 37 7 21781669 21781669 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:21781669C>T uc003svc.3 + 49 8091 c.8060C>T c.(8059-8061)cCc>cTc p.P2687L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2687 AAA 3 (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 AGGAGTGGCCCCACTTTGATC 0.393000 Kartagener syndrome 201 22 0 0 0.000295444 0 0 SNX12 29934 broad.mit.edu 37 X 70281772 70281772 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:70281772G>A uc004dyr.1 - 2 382 c.307C>T c.(307-309)Cct>Tct p.P103S SNX12_uc004dyp.1_Non-coding_Transcript|BC080535_uc004dyq.3_5'Flank NM_013346 NP_037478 Q9UMY4 SNX12_HUMAN Homo sapiens sorting nexin 12 (SNX12), transcript variant 2, mRNA. 103 PX. cell communication|protein transport membrane phosphatidylinositol binding|protein binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 Renal(35;0.156) CCTCGGAAAGGGAGCTGCCGC 0.522000 12 22 0 0 0.00047179 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255436 9255436 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:9255436C>T uc002knv.3 + 8 2435 c.2171C>T c.(2170-2172)tCa>tTa p.S724L ANKRD12_uc002knw.3_Missense_Mutation_p.S701L|ANKRD12_uc002knx.3_Missense_Mutation_p.S701L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S431L NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 724 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAAAAAAAATCAAAATTGGAA 0.274000 40 9 0 0 0.000274275 0 0 MED17 9440 broad.mit.edu 37 11 93523911 93523911 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:93523911C>T uc001pem.4 + 2 864 c.589C>T c.(589-591)Cga>Tga p.R197* NM_004268 NP_004259 Q9NVC6 MED17_HUMAN Homo sapiens mediator complex subunit 17 (MED17), mRNA. 197 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGGAAACTTCGAAAAGTTGG 0.398000 44 24 0 0 0.000147802 0 0 TLE4 7091 broad.mit.edu 37 9 82267551 82267552 + Missense_Mutation DNP CC TT TT rs3186577 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:82267551_82267552CC>TT uc004ald.3 + 6 1262_1263 c.413_414CC>TT c.(412-414)ccc>cTT p.P138L TLE4_uc004alc.3_Missense_Mutation_p.P145L|TLE4_uc010mpr.3_Missense_Mutation_p.P24L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P113L|TLE4_uc010mps.3_Missense_Mutation_p.P138L|TLE4_uc004alf.3_Missense_Mutation_p.P84L NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 p.P145P(2) 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 CATGGTCTCCCCGTACCTCTGA 0.559000 71 33 0 0 6.4e-05 0 0 ANK3 288 broad.mit.edu 37 10 61802491 61802491 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:61802491C>T uc001jky.3 - 42 13430 c.13092G>A c.(13090-13092)acG>acA p.T4364T ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 4364 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 TTTCTTTCTTCGTTTTCACCT 0.398000 67 29 0 0 0.000227799 0 0 VWC2 375567 broad.mit.edu 37 7 49842381 49842382 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:49842381_49842382GG>AA uc003tot.1 + 2 1327_1328 c.771_772GG>AA c.(769-774)acggag>acAAag p.E258K NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA. 258 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GTCCCCAGACGGAGTGTGTGGA 0.569000 106 12 0 0 6.4e-05 0 0 MLL2 8085 broad.mit.edu 37 12 49420526 49420526 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:49420526C>T uc001rta.4 - 47 15223 c.15223G>A c.(15223-15225)Ggg>Agg p.G5075R NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 5075 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 p.G5075R(1)|p.I5075fs*18(1)|p.G4805R(1) 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 ATCAGTGCCCCGCCCTGGGTC 0.627000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 9 16 0 0 0.000422831 0 0 MYT1L 23040 broad.mit.edu 37 2 1906872 1906872 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:1906872G>A uc002qxe.3 - 13 2839 c.2012C>T c.(2011-2013)tCc>tTc p.S671F MYT1L_uc002qxd.3_Missense_Mutation_p.S669F|MYT1L_uc010ewl.2_Intron NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 671 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) TCCTTTGGGGGATATATCCCT 0.428000 101 50 0 0 0.000781405 0 0 LSR 51599 broad.mit.edu 37 19 35757839 35757839 + Silent SNP A C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:35757839A>C uc002nyl.3 + 7 1480 c.1257A>C c.(1255-1257)cgA>cgC p.R419R LSR_uc010xsr.2_Silent_p.R311R|LSR_uc002nym.3_Silent_p.R400R|LSR_uc002nyn.3_Silent_p.R351R|LSR_uc002nyo.3_Silent_p.R399R|LSR_uc002nyp.3_Silent_p.R361R|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 419 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACCCTTCTCGACCTGGCCCCC 0.612000 29 5 0 0 3.59834e-05 0 0 MAP7 9053 broad.mit.edu 37 6 136667047 136667047 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:136667047C>T uc011edg.2 - 16 2525 c.2276G>A c.(2275-2277)gGg>gAg p.G759E MAP7_uc011edf.2_Missense_Mutation_p.G714E|MAP7_uc010kgu.3_Missense_Mutation_p.G751E|MAP7_uc011edh.2_Missense_Mutation_p.G714E|MAP7_uc010kgv.3_Missense_Mutation_p.G751E|MAP7_uc010kgs.3_Missense_Mutation_p.G583E|MAP7_uc011edi.2_Missense_Mutation_p.G583E|MAP7_uc010kgq.2_Missense_Mutation_p.G635E|MAP7_uc003qgz.3_Missense_Mutation_p.G729E|MAP7_uc003qha.2_Missense_Mutation_p.G692E NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 729 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) CCCAAGTGTCCCTTCATCATC 0.458000 13 10 0 0 6.40141e-05 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13782284 13782284 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:13782284C>T uc002wom.3 + 6 715 c.672C>T c.(670-672)gaC>gaT p.D224D NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Silent_p.D196D NM_024120 NP_077025 Q5TEU4 CT007_HUMAN Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 224 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity CTGTCAATGACCTGGGACATC 0.433000 85 30 0 0 0.000692331 0 0 CD5L 922 broad.mit.edu 37 1 157803299 157803299 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:157803299G>A uc001frk.4 - 4 865 c.722C>T c.(721-723)cCc>cTc p.P241L NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 241 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAAGTCAAAGGGATCTGCAGG 0.458000 72 14 0 0 0.000219431 0 0 XKR5 389610 broad.mit.edu 37 8 6682798 6682798 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:6682798C>T uc022aqv.1 - 2 467 c.316G>A c.(316-318)Gag>Aag p.E106K XKR5_uc003wqq.3_5'UTR NM_207411 NP_997294 Q6UX68 XKR5_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA. 106 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGGTCGGCCTCCTGCAGCTGC 0.612000 19 8 0 0 0.000157383 0 0 SVEP1 79987 broad.mit.edu 37 9 113221255 113221255 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:113221255G>A uc010mtz.3 - 18 3798 c.3461C>T c.(3460-3462)tCc>tTc p.S1154F SVEP1_uc010mua.1_Missense_Mutation_p.S1154F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1154 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GATGGATCTGGAACCAGCGAA 0.448000 56 14 0 0 0.000566183 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502118 140502118 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:140502118C>T uc003lip.1 + 0 538 c.538C>T c.(538-540)Ctc>Ttc p.L180F NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 180 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTCACATTCTCACTCGAAA 0.473000 17 12 0 0 6.40141e-05 0 0 abParts 0 broad.mit.edu 37 14 106926190 106926190 + RNA SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:106926190C>T uc021ser.1 - 325 c.11678G>A Parts of antibodies, mostly variable regions. CACTGTGTATCTTTTGCACAG 0.532000 122 11 0 0 0.000586117 0 0 EYA1 2138 broad.mit.edu 37 8 72184075 72184075 + Missense_Mutation SNP A C C rs146687496 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:72184075A>C uc003xyu.3 - 9 1524 c.884T>G c.(883-885)tTg>tGg p.L295W EYA1_uc003xyt.4_Missense_Mutation_p.L262W|EYA1_uc003xyr.4_Missense_Mutation_p.L290W|EYA1_uc010lzf.3_Missense_Mutation_p.L222W|EYA1_uc003xys.4_Missense_Mutation_p.L295W|EYA1_uc011lfe.2_Missense_Mutation_p.L289W|EYA1_uc003xyv.3_Missense_Mutation_p.L173W NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 295 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ACCTCGACGCAATCGATCAGA 0.458000 141 62 0 0 0.000781405 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947487 57947487 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:57947487G>A uc021qjm.1 + 0 571 c.571G>A c.(571-573)Gag>Aag p.E191K OR9Q1_uc001nmj.3_Missense_Mutation_p.E191K NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G190V(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GACCTGTGGGGAGAGCTACAC 0.473000 35 25 0 0 0.00047179 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619807 77619807 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:77619807C>T uc003yau.2 + 2 3004 c.2617C>T c.(2617-2619)Cgg>Tgg p.R873W ZFHX4_uc003yat.1_Intron|ZFHX4_uc003yaw.1_Intron NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 863 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R873R(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTGAAATCCGGCTTGCCAG 0.433000 HNSCC(33;0.089) 21 4 0 0 0.00024832 0 0 LOC442459 442459 broad.mit.edu 37 X 98974500 98974500 + RNA SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:98974500C>T uc011mrd.1 - 7 c.1843G>A Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA. CTGAATACTCCGCTTGGGCCT 0.453000 2 7 0 0 0.000274275 0 0 PKD1L1 168507 broad.mit.edu 37 7 47968864 47968864 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:47968864C>T uc003tny.2 - 6 1031 c.997G>A c.(997-999)Gaa>Aaa p.E333K NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 333 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGCCTCATTTCAACCCCAGAA 0.522000 112 98 0 0 0.000781405 0 0 ZNF611 81856 broad.mit.edu 37 19 53209661 53209661 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:53209661G>A uc002pzz.3 - 6 964 c.647C>T c.(646-648)tCa>tTa p.S216L ZNF611_uc010eqc.3_Missense_Mutation_p.S146L|ZNF611_uc010ydo.2_Missense_Mutation_p.S146L|ZNF611_uc010ydp.2_Missense_Mutation_p.S216L|ZNF611_uc010ydq.2_Missense_Mutation_p.S216L|ZNF611_uc010ydr.2_Missense_Mutation_p.S147L|ZNF611_uc002qaa.4_Missense_Mutation_p.S146L|ZNF611_uc021uyy.1_Missense_Mutation_p.S147L NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGGGAGTAATGAAGAATTCAG 0.378000 152 40 0 0 0.000680045 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14848843 14848844 + Missense_Mutation DNP CA TT TT TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:14848843_14848844CA>TT uc010dlo.2 + 33 3133_3134 c.2953_2954CA>TT c.(2953-2955)caa>TTa p.Q985L ANKRD30B_uc021uhy.1_Missense_Mutation_p.Q985L|ANKRD30B_uc010xal.1_Missense_Mutation_p.Q127L NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 1070 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TTGTGTACTACAAAAGGAACTG 0.356000 19 6 0 0 6.4e-05 0 0 PARM1 25849 broad.mit.edu 37 4 75938300 75938300 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:75938300G>A uc003hih.2 + 1 962 c.709G>A c.(709-711)Gag>Aag p.E237K NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA. 237 positive regulation of telomerase activity Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CATAGACATGGAGACCACCAC 0.498000 40 13 0 0 0.000219431 0 0 RBM11 54033 broad.mit.edu 37 21 15599221 15599222 + Missense_Mutation DNP AG TA TA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:15599221_15599222AG>TA uc002yjo.4 + 4 495_496 c.453_454AG>TA c.(451-456)ccagtg>ccTAtg p.V152M RBM11_uc002yjn.4_Missense_Mutation_p.V38M|RBM11_uc002yjp.4_Missense_Mutation_p.V38M NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 152 RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TGTATAATCCAGTGCTGCAGCT 0.396000 97 35 0 0 6.4e-05 0 0 NCAM2 4685 broad.mit.edu 37 21 22707868 22707868 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:22707868G>A uc002yld.2 + 6 1030 c.781G>A c.(781-783)Ggg>Agg p.G261R NCAM2_uc011acb.2_Missense_Mutation_p.G119R|NCAM2_uc011acc.2_Missense_Mutation_p.G286R NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 261 Ig-like C2-type 3. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CATATTGAAAGGGAGCAATAC 0.388000 34 4 0 0 0.000602214 0 0 SYT1 6857 broad.mit.edu 37 12 79679739 79679739 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:79679739G>A uc001sys.3 + 5 1010 c.339G>A c.(337-339)acG>acA p.T113T SYT1_uc001syt.3_Silent_p.T113T|SYT1_uc001syu.3_Silent_p.T113T|SYT1_uc001syv.3_Silent_p.T113T NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 113 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TAGGGAAGACGATGAAAGATC 0.274000 19 11 0 0 0.000308642 0 0 SHANK3 85358 broad.mit.edu 37 22 51123067 51123067 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:51123067G>A uc003bne.1 + 8 1018 c.1018G>A c.(1018-1020)Gac>Aac p.D340N NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. 340 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GACCCACAAAGACTCGGATGT 0.572000 44 25 0 0 0.000279167 0 0 CHD1 1105 broad.mit.edu 37 5 98230354 98230354 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:98230354G>A uc003knf.3 - 11 1895 c.1747C>T c.(1747-1749)Cgg>Tgg p.R583W NM_001270 NP_001261 O14646 CHD1_HUMAN Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. 583 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AATTTTAACCGTTTGGTCTGA 0.259000 8 5 0 0 8.12818e-05 0 0 CCDC141 285025 broad.mit.edu 37 2 179702368 179702368 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:179702368T>C uc002une.2 - 22 3696 c.3578A>G c.(3577-3579)gAc>gGc p.D1193G CCDC141_uc002unf.1_Missense_Mutation_p.D672G NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 618 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAGGAGCAGGTCCTGGACGCC 0.562000 75 39 0 0 0.000781405 0 0 IKBKAP 8518 broad.mit.edu 37 9 111641823 111641823 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:111641823G>A uc004bdm.4 - 32 3995 c.3475C>T c.(3475-3477)Cac>Tac p.H1159Y IKBKAP_uc004bdl.3_Missense_Mutation_p.H810Y|IKBKAP_uc011lwc.2_Missense_Mutation_p.H1045Y|IKBKAP_uc010mtq.3_Missense_Mutation_p.H810Y|IKBKAP_uc004bdk.3_Missense_Mutation_p.H163Y|IKBKAP_uc010mtp.3_Non-coding_Transcript NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 1159 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCTTGCCCGTGGGGTACCTCA 0.468000 26 8 0 0 0.000274275 0 0 ACSF2 80221 broad.mit.edu 37 17 48539911 48539911 + Missense_Mutation SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:48539911T>C uc010wmm.1 + 6 936 c.832T>C c.(832-834)Tcc>Ccc p.S278P ACSF2_uc002iqu.2_Missense_Mutation_p.S253P|ACSF2_uc010wml.1_Missense_Mutation_p.S210P|ACSF2_uc010wmn.1_Missense_Mutation_p.S240P|ACSF2_uc010wmo.1_Missense_Mutation_p.S93P NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA. 253 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) GCAGTTCCTGTCCTGCCATGA 0.617000 48 7 0 0 0.000157383 0 0 CHST8 64377 broad.mit.edu 37 19 34263477 34263477 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:34263477G>A uc002nus.4 + 4 1289 c.784G>A c.(784-786)Gag>Aag p.E262K CHST8_uc002nut.4_Missense_Mutation_p.E262K|CHST8_uc002nuu.3_Missense_Mutation_p.E262K NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 262 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CGAGCCCTTCGAGAGGCTGGT 0.617000 42 38 0 0 0.000437636 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886650 9886650 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:9886650C>T uc002koi.4 + 1 623 c.174C>T c.(172-174)gcC>gcT p.A58A TXNDC2_uc002koh.4_5'UTR|TXNDC2_uc021ugx.1_5'Flank NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 58 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 TGGAAATAGCCCAGGCCAAAG 0.478000 41 22 0 0 0.000227799 0 0 PTPRU 10076 broad.mit.edu 37 1 29587201 29587201 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:29587201C>T uc001bru.3 + 6 1059 c.930C>T c.(928-930)tcC>tcT p.S310S PTPRU_uc009vtq.3_Silent_p.S310S|PTPRU_uc009vtr.3_Silent_p.S310S|PTPRU_uc001brw.3_Silent_p.S310S NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 310 Fibronectin type-III 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACACCAACTCCATCATTGGCG 0.657000 33 6 0 0 3.59834e-05 0 0 TP53BP1 7158 broad.mit.edu 37 15 43783950 43783950 + Splice_Site SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:43783950G>A uc001zrs.3 - 4 420 c.272_splice c.e4-1 p.D91_splice TP53BP1_uc010udp.2_Splice_Site_p.D91_splice|TP53BP1_uc001zrq.4_Splice_Site_p.D96_splice|TP53BP1_uc001zrr.4_Splice_Site_p.D96_splice|TP53BP1_uc010udq.1_Splice_Site_p.D96_splice NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 91 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AATCCACAGGGTCTGAAAAAA 0.383000 Other conserved DNA damage response genes 74 50 0 0 0.000781405 0 0 CABP2 51475 broad.mit.edu 37 11 67287292 67287292 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:67287292G>A uc001ome.1 - 5 715 c.627C>T c.(625-627)ctC>ctT p.L209L CABP2_uc001omc.1_Silent_p.L203L Q9NPB3 CABP2_HUMAN Homo sapiens calcium binding protein 2 (CABP2), mRNA. 203 EF-hand 4. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 9 CGTCCCCATTGAGGTCCACGT 0.652000 20 21 0 0 0.000720815 0 0 PDE6B 5158 broad.mit.edu 37 4 619541 619541 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:619541G>A uc003gap.3 + 0 179 c.126G>A c.(124-126)ccG>ccA p.P42P PDE6B_uc003gao.4_Silent_p.P42P NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 42 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.P42Q(1) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGTGCCCGCCGGACTGCGACA 0.642000 43 31 0 0 0.000814825 0 0 LRMP 4033 broad.mit.edu 37 12 25243071 25243071 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:25243071C>T uc001rgh.3 + 12 1640 c.546C>T c.(544-546)tcC>tcT p.S182S LRMP_uc010sja.2_Silent_p.S182S|LRMP_uc010sjc.2_Silent_p.S182S|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.S129S|LRMP_uc010sjd.2_Silent_p.S129S NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 238 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AAGAGAGGTCCCGTGACTTGG 0.363000 44 145 0 0 0.000781405 0 0 TM9SF2 9375 broad.mit.edu 37 13 100204470 100204470 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr13:100204470G>C uc001voj.1 + 12 1511 c.1378G>C c.(1378-1380)Gga>Cga p.G460R TM9SF2_uc010afz.1_Missense_Mutation_p.G295R NM_004800 NP_004791 Q99805 TM9S2_HUMAN Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA. 460 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CTGGGGAGAAGGATCTTCAGC 0.418000 68 25 0 0 0.000720815 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152391 133152391 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:133152391C>T uc003ytj.3 - 10 1725 c.1500G>A c.(1498-1500)agG>agA p.R500R KCNQ3_uc003yti.3_Silent_p.R380R|KCNQ3_uc010mdt.3_Silent_p.R500R NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 500 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) TCCCATAGCCCCTGTCTTCCG 0.617000 22 12 0 0 6.40141e-05 0 0 KRT84 3890 broad.mit.edu 37 12 52775309 52775309 + Splice_Site SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:52775309C>T uc001sah.1 - 5 961 c.913_splice c.e5-1 p.E305_splice NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 305 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AACTGGATTTCCTGTGTTGGA 0.542000 86 61 0 0 0.000781405 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777985 110777985 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:110777985C>T uc003puf.3 - 1 356 c.289G>A c.(289-291)Gag>Aag p.E97K SLC22A16_uc003pue.3_Missense_Mutation_p.E78K|SLC22A16_uc003pug.3_Missense_Mutation_p.E97K NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 97 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CTTGAGAGCTCCCAGATCTCA 0.473000 122 17 0 0 0.000229342 0 0 KCTD8 386617 broad.mit.edu 37 4 44177176 44177176 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:44177176G>A uc003gwu.3 - 1 1337 c.1053C>T c.(1051-1053)tcC>tcT p.S351S NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA. 351 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 GCTCATTACAGGAAGTCCCAC 0.468000 HNSCC(17;0.042) 95 23 0 0 0.00047179 0 0 NID1 4811 broad.mit.edu 37 1 236143949 236143950 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:236143949_236143950GG>AA uc001hxo.3 - 16 3333_3334 c.3231_3232CC>TT c.(3229-3234)aacctt>aaTTtt p.L1078F NID1_uc009xgd.3_Missense_Mutation_p.L945F|NID1_uc009xgc.3_Missense_Mutation_p.L159F NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 1078 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) GTCCAGTAAAGGTTCCTGGAGG 0.436000 29 25 0 0 6.4e-05 0 0 CYP11B1 1584 broad.mit.edu 37 8 143959214 143959214 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:143959214G>A uc010mey.3 - 3 574 c.567C>T c.(565-567)ttC>ttT p.F189F CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron 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. 133 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) TGCCCCCAGGGAATGGTGGGG 0.522000 Familial Hyperaldosteronism type I 36 8 0 0 0.00010058 0 0 OR5K4 403278 broad.mit.edu 37 3 98072744 98072744 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:98072744G>A uc011bgv.2 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 ATCCTCATAGGATTTACAAAT 0.418000 49 15 0 0 0.000422831 0 0 C1orf87 127795 broad.mit.edu 37 1 60505724 60505724 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:60505724G>A uc001czs.2 - 4 720 c.612C>T c.(610-612)atC>atT p.I204I NM_152377 NP_689590 Q8N0U7 CA087_HUMAN Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA. 204 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTGGGTCCAGGATCTTCAGCT 0.428000 87 28 0 0 0.000279167 0 0 GPR158 57512 broad.mit.edu 37 10 25887683 25887683 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:25887683C>T uc001isj.3 + 10 3188 c.3128C>T c.(3127-3129)tCc>tTc p.S1043F GPR158_uc001isk.3_Missense_Mutation_p.S418F NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 1043 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 CCCACTTTTTCCTTAAAGGAG 0.453000 48 9 0 0 0.000274275 0 0 HELQ 113510 broad.mit.edu 37 4 84347178 84347179 + Missense_Mutation DNP CC AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:84347178_84347179CC>AA uc003hom.3 - 13 2922_2923 c.2743_2744GG>TT c.(2743-2745)ggg>TTg p.G915L HELQ_uc010ikb.3_Missense_Mutation_p.G848L|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 915 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 TGCTTTCTTCCCAATAAAGCTT 0.391000 Other identified genes with known or suspected DNA repair function 299 10 0 0 6.4e-05 0 0 DSC3 1825 broad.mit.edu 37 18 28576937 28576937 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:28576937C>T uc002kwj.4 - 14 2468 c.2313G>A c.(2311-2313)atG>atA p.M771I DSC3_uc002kwi.4_Missense_Mutation_p.M771I NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 771 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTCCATTTTTCATTCCTGATC 0.443000 24 6 0 0 3.59834e-05 0 0 C15orf55 256646 broad.mit.edu 37 15 34640410 34640410 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:34640410G>A uc010ucc.2 + 2 723 c.341G>A c.(340-342)gGc>gAc p.G114D C15orf55_uc010ucd.2_Missense_Mutation_p.G104D|C15orf55_uc001zif.3_Missense_Mutation_p.G86D NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 86 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GCTGGGGCTGGCAAGGTCATT 0.557000 T """BRD3, BRD4""" lethal midline carcinoma 39 15 0 0 0.000219431 0 0 RGS21 431704 broad.mit.edu 37 1 192335123 192335123 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:192335123G>A uc001gsh.3 + 4 502 c.328G>A c.(328-330)Gag>Aag p.E110K NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 110 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 ATGCTTTGATGAGGCTCAGAA 0.378000 44 62 0 0 0.000781405 0 0 SNX31 169166 broad.mit.edu 37 8 101620768 101620768 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:101620768G>A uc003yjr.3 - 7 786 c.635C>T c.(634-636)tCc>tTc p.S212F SNX31_uc011lha.2_Missense_Mutation_p.S7F|SNX31_uc011lhb.2_Missense_Mutation_p.S113F NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN Homo sapiens sorting nexin 31 (SNX31), mRNA. 212 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CATCAGCACGGAGTCGAGGGA 0.527000 25 25 0 0 0.000878237 0 0 FKBPL 63943 broad.mit.edu 37 6 32096980 32096980 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:32096980G>C uc003nzr.3 - 1 848 c.578C>G c.(577-579)aCt>aGt p.T193S ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.T193S NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 193 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCGGCCTTGAGTGAAGGATGC 0.567000 470 77 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179495667 179495667 + Missense_Mutation SNP C A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:179495667C>A uc021vsy.1 - 186 36539 c.36314G>T c.(36313-36315)cGg>cTg p.R12105L MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R5800L|TTN_uc021vta.1_Missense_Mutation_p.R5733L|TTN_uc021vtb.1_Missense_Mutation_p.R5608L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13032 Ig-like 80. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E12105V(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) TTTAATTTCCCGATCTAGAAA 0.473000 42 13 5.50884e-06 6.96117e-05 0.00010058 1 0 PPRC1 23082 broad.mit.edu 37 10 103906857 103906857 + Missense_Mutation SNP C G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:103906857C>G uc001kum.3 + 8 4147 c.4108C>G c.(4108-4110)Ctt>Gtt p.L1370V PPRC1_uc001kun.3_Missense_Mutation_p.L1250V|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 1370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGCACCCTGCCTTGCCCCATC 0.642000 14 6 0 0 3.59834e-05 0 0 CCBE1 147372 broad.mit.edu 37 18 57103350 57103350 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:57103350G>A uc002lib.3 - 10 1081 c.1011C>T c.(1009-1011)ttC>ttT p.F337F CCBE1_uc010dpq.3_Silent_p.F66F|CCBE1_uc002lia.3_Silent_p.F190F NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 337 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TAAGTAGCAGGAAGTCGAAAG 0.537000 42 26 0 0 0.000227799 0 0 DAB1 1600 broad.mit.edu 37 1 57491655 57491655 + Splice_Site SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:57491655G>A uc009vzx.1 - 10 1106 c.786_splice c.e10+1 p.P262_splice DAB1_uc001cyt.1_Splice_Site_p.P260_splice|DAB1_uc001cyq.1_Splice_Site_p.P260_splice|DAB1_uc001cyr.1_Splice_Site_p.P176_splice|DAB1_uc009vzw.1_Splice_Site_p.P244_splice|DAB1_uc001cys.1_Splice_Site_p.P262_splice NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 295 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 CATACTTACGGGGGGAGAGGT 0.458000 121 29 0 0 0.000692331 0 0 OR8B8 26493 broad.mit.edu 37 11 124310904 124310904 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:124310904G>A uc010sal.2 - 0 78 c.78C>T c.(76-78)ccC>ccT p.P26P NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGAAGAAGAGGGGGATCTGGA 0.512000 40 7 0 0 0.000274275 0 0 FAM179B 23116 broad.mit.edu 37 14 45513962 45513962 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:45513962C>T uc001wvw.3 + 12 4252 c.4043C>T c.(4042-4044)gCt>gTt p.A1348V FAM179B_uc001wvv.3_Missense_Mutation_p.A1348V|FAM179B_uc010anc.3_Non-coding_Transcript NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 1348 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TTGCACAAGGCTGGTGAATCA 0.368000 46 18 0 0 0.00074312 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441562 1441562 + Silent SNP C T T rs112801202 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:1441562C>T uc003jck.3 - 2 456 c.330G>A c.(328-330)ggG>ggA p.G110G NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 110 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AAAGTGGCATCCCAGCAATGA 0.577000 31 4 0 0 0.000602214 0 0 NCOR2 9612 broad.mit.edu 37 12 124841297 124841297 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:124841297C>T uc021rga.1 - 22 3270 c.3153G>A c.(3151-3153)ggG>ggA p.G1051G NCOR2_uc021rgb.1_Silent_p.G1035G|NCOR2_uc010tbb.2_Silent_p.G1044G|NCOR2_uc010tbc.2_Silent_p.G1034G|NCOR2_uc021rgc.1_Silent_p.G1034G|NCOR2_uc010tba.2_Silent_p.G1052G|NCOR2_uc001ugj.1_Silent_p.G1052G NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1052 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AAGGGGGGTCCCCAGGCAGCT 0.692000 6 5 0 0 0.000602214 0 0 ZNF90 7643 broad.mit.edu 37 19 20215083 20215083 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:20215083C>T uc002nor.2 + 1 178 c.39C>T c.(37-39)ttC>ttT p.F13F ZNF90_uc021url.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN Homo sapiens zinc finger protein 90 (ZNF90), mRNA. 13 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 CCATAGAATTCTCTCTGGAGG 0.423000 54 31 0 0 0.000491102 0 0 TBX15 6913 broad.mit.edu 37 1 119427402 119427402 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:119427402C>T uc001ehl.1 - 7 1759 c.1444G>A c.(1444-1446)Ggg>Agg p.G482R TBX15_uc009whj.1_Missense_Mutation_p.G306R NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 588 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Y481F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGAACTGCCCCATACTGCCGG 0.562000 56 40 0 0 0.000781405 0 0 SYT7 9066 broad.mit.edu 37 11 61291401 61291401 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:61291401C>T uc001nrv.3 - 6 857 c.805G>A c.(805-807)Gag>Aag p.E269K SYT7_uc009ynr.3_Missense_Mutation_p.E344K NM_004200 NP_004191 O43581 SYT7_HUMAN Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA. 269 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AAGAGCAGCTCCCCTCGGCTC 0.602000 59 26 0 0 0.000720815 0 0 OR14A16 284532 broad.mit.edu 37 1 247978756 247978756 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:247978756G>A uc001idm.1 - 0 276 c.276C>T c.(274-276)ttC>ttT p.F92F NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F92L(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CACAGCCAAGGAATGAAATGG 0.438000 31 33 0 0 0.00058488 0 0 PGC 5225 broad.mit.edu 37 6 41705561 41705561 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:41705561G>A uc003ora.2 - 7 988 c.921C>T c.(919-921)ctC>ctT p.L307L TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank NM_002630 NP_002621 P20142 PEPC_HUMAN Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA. 307 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TACAGTTCACGAGAAACTGCA 0.532000 29 5 0 0 3.59834e-05 0 0 C7orf26 79034 broad.mit.edu 37 7 6639599 6639599 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:6639599C>T uc003sqo.1 + 3 720 c.720C>T c.(718-720)ctC>ctT p.L240L C7orf26_uc003sqp.1_Intron NM_024067 NP_076972 Q96N11 CG026_HUMAN Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA. 240 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) TCACCCCGCTCGTTGGATTGA 0.483000 79 9 0 0 0.000274275 0 0 CXCR2 3579 broad.mit.edu 37 2 219000495 219000495 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:219000495G>A uc002vgz.2 + 3 1181 c.971G>A c.(970-972)gGa>gAa p.G324E CXCR2_uc002vha.2_Missense_Mutation_p.G324E|CXCR2_uc002vhb.2_Missense_Mutation_p.G324E|CXCR2_uc021vwp.1_Missense_Mutation_p.G324E NM_001168298 NP_001548 P25025 CXCR2_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA. 324 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 TTTCGCCATGGACTCCTCAAG 0.547000 86 38 0 0 0.000680045 0 0 LSM10 84967 broad.mit.edu 37 1 36859386 36859386 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:36859386C>T uc001cao.1 - 1 495 c.345G>A c.(343-345)tgG>tgA p.W115* LSM10_uc021olj.1_Nonsense_Mutation_p.W115* NM_032881 NP_116270 Q969L4 LSM10_HUMAN Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA. 115 RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) GGGGAAATTCCCACCGGCCTT 0.572000 69 13 0 0 0.00010058 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826231 43826231 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:43826231G>A uc010skx.2 - 20 2972 c.2972C>T c.(2971-2973)tCt>tTt p.S991F ADAMTS20_uc001rno.1_Missense_Mutation_p.S145F|ADAMTS20_uc001rnp.1_Missense_Mutation_p.S145F NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 991 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding p.C991W(1) 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) CATACAATAAGATTCTCGAGA 0.378000 38 45 0 0 0.000781405 0 0 ERG 2078 broad.mit.edu 37 21 39774506 39774506 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:39774506G>T uc010gnw.3 - 6 962 c.667C>A c.(667-669)Cca>Aca p.P223T ERG_uc021wjd.1_Missense_Mutation_p.P223T|ERG_uc002yxa.3_Missense_Mutation_p.P216T|ERG_uc011aek.2_Missense_Mutation_p.P124T|ERG_uc010gnv.3_Missense_Mutation_p.P124T|ERG_uc010gnx.3_Missense_Mutation_p.P223T|ERG_uc011ael.2_Missense_Mutation_p.P223T|ERG_uc002yxb.3_Missense_Mutation_p.P223T|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.P223T|ERG_uc010gny.1_Intron NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 223 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ATTAACCGTGGAGAGTTTTGT 0.438000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 37 14 2.23348e-06 2.83896e-05 0.000422831 1 0 TPTEP1 387590 broad.mit.edu 37 22 17179052 17179052 + RNA SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:17179052G>A uc002zls.1 + 2 c.1134G>A Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA. AGTGGCTGCAGAAAAGAGCGA 0.532000 1 3 0 0 0.00024832 0 0 STMN2 11075 broad.mit.edu 37 8 80553695 80553696 + Missense_Mutation DNP AG TA TA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:80553695_80553696AG>TA uc022awk.1 + 2 580_581 c.198_199AG>TA c.(196-201)gaagcc>gaTAcc p.66_67EA>DT STMN2_uc003ybj.3_Missense_Mutation_p.66_67EA>DT|STMN2_uc010lzp.3_Non-coding_Transcript NM_001199214 NP_001186143 Q93045 STMN2_HUMAN Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA. 66 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CTATCTCAGAAGCCCCACGAAC 0.455000 48 20 0 0 6.4e-05 0 0 CXXC11 285093 broad.mit.edu 37 2 242814328 242814328 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:242814328C>T uc010fzu.1 + 1 644 c.621C>T c.(619-621)tcC>tcT p.S207S NM_173821 NP_776182 Q14D33 CB085_HUMAN Homo sapiens CXXC finger protein 11 (CXXC11), mRNA. 207 integral to membrane TCCCCTTCTCCCTTGTGGGTA 0.682000 27 8 0 0 0.000673444 0 0 MAPK12 6300 broad.mit.edu 37 22 50693885 50693885 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr22:50693885G>C uc003bkm.1 - 9 998 c.847C>G c.(847-849)Ctg>Gtg p.L283V MAPK12_uc003bko.2_Missense_Mutation_p.L193V|MAPK12_uc003bkl.1_Missense_Mutation_p.L273V|MAPK12_uc003bkq.2_Missense_Mutation_p.L102V NM_002969 NP_002960 P53778 MK12_HUMAN Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA. 283 Protein kinase. DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation mitochondrion|nucleoplasm ATP binding|MAP kinase activity|magnesium ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCGTACCCAGAGGGCTTGCA 0.612000 28 24 0 0 0.000720815 0 0 LRRC2 79442 broad.mit.edu 37 3 46586549 46586550 + Missense_Mutation DNP CC AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:46586549_46586550CC>AA uc010hji.3 - 2 712_713 c.319_320GG>TT c.(319-321)ggg>TTg p.G107L LRRC2_uc003cpu.4_Missense_Mutation_p.G107L NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA. 107 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) CCAGTGCTCCCCAGAAAGTTCA 0.530000 181 9 0 0 6.4e-05 0 0 DNAH11 8701 broad.mit.edu 37 7 21934243 21934243 + Silent SNP T A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:21934243T>A uc003svc.3 + 78 12805 c.12774T>A c.(12772-12774)gtT>gtA p.V4258V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 4258 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 GATTTAAGGTTAAGAATGTCT 0.328000 Kartagener syndrome 102 24 0 0 0.00047179 0 0 PPP1R10 5514 broad.mit.edu 37 6 30572382 30572382 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:30572382G>A uc003nqn.1 - 11 1637 c.1085C>T c.(1084-1086)cCg>cTg p.P362L PPP1R10_uc010jsc.1_Missense_Mutation_p.P16L NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 362 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CATGAGCTCCGGGACTTCAAC 0.542000 197 44 0 0 0.000781405 0 0 TBC1D9 23158 broad.mit.edu 37 4 141598154 141598154 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:141598154G>A uc010ioj.3 - 5 1225 c.953C>T c.(952-954)cCa>cTa p.P318L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 318 GRAM 2. intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTTGTTAAATGGAGTCCAGAG 0.453000 84 60 0 0 0.000781405 0 0 MGAM 8972 broad.mit.edu 37 7 141803141 141803141 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:141803141G>A uc003vwy.3 + 46 5452 c.5398G>A c.(5398-5400)Gaa>Aaa p.E1800K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1800 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) GGGCTACATTGAAATCTGGGG 0.428000 32 5 0 0 0.000602214 0 0 ADNP 23394 broad.mit.edu 37 20 49509856 49509856 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:49509856G>A uc002xvt.1 - 4 1740 c.1395C>T c.(1393-1395)ttC>ttT p.F465F ADNP_uc002xvu.1_Silent_p.F465F NM_015339 NP_852107 Q9H2P0 ADNP_HUMAN Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA. 465 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F465F(2) NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GTTCTTTTTCGAAGTGCACAC 0.388000 198 79 0 0 0.000781405 0 0 CPXM1 56265 broad.mit.edu 37 20 2777035 2777035 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:2777035C>T uc002wgu.3 - 8 1174 c.1100G>A c.(1099-1101)cGg>cAg p.R367Q CPXM1_uc010gas.3_Missense_Mutation_p.R367Q NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 367 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AAGCAACTCCCGCCCCAGGGC 0.652000 63 16 0 0 0.00074312 0 0 NRXN1 9378 broad.mit.edu 37 2 50170887 50170887 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:50170887C>T uc021vhh.1 - 19 5002 c.4081G>A c.(4081-4083)Gat>Aat p.D1361N NRXN1_uc010fbp.3_Missense_Mutation_p.D326N|NRXN1_uc002rxb.4_Missense_Mutation_p.D1063N|NRXN1_uc021vhg.1_Missense_Mutation_p.D1431N|NRXN1_uc021vhi.1_Missense_Mutation_p.D1427N|NRXN1_uc021vhj.1_Missense_Mutation_p.D1357N|NRXN1_uc002rxa.4_Missense_Mutation_p.D26N|NRXN1_uc010yon.2_Missense_Mutation_p.D26N NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 1361 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCCTCATCATCGCTGGGACAC 0.438000 21 14 0 0 0.000308642 0 0 C1orf168 199920 broad.mit.edu 37 1 57185941 57185941 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:57185941C>T uc001cym.4 - 17 2442 c.2036G>A c.(2035-2037)gGa>gAa p.G679E C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 679 p.G679V(2) 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 ATCAAATATTCCATTTCTTGA 0.348000 63 22 0 0 0.00047179 0 0 USH2A 7399 broad.mit.edu 37 1 216465577 216465577 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:216465577G>A uc001hku.1 - 9 2167 c.1780C>T c.(1780-1782)Cct>Tct p.P594S USH2A_uc001hkv.3_Missense_Mutation_p.P594S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 594 Laminin EGF-like 2. 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) TGCTCAAAAGGAAATGGGTCT 0.433000 HNSCC(13;0.011) 95 5 0 0 8.12818e-05 0 0 LPIN3 64900 broad.mit.edu 37 20 39978454 39978454 + Nonsense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:39978454G>T uc010ggh.3 + 5 773 c.682G>T c.(682-684)Gag>Tag p.E228* LPIN3_uc002xjx.3_Nonsense_Mutation_p.E227*|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 227 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GAGCGACTCGGAGCTGGAGGT 0.632000 27 10 5.50884e-06 6.96117e-05 0.00010058 1 0 TMPRSS4 56649 broad.mit.edu 37 11 117965536 117965536 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:117965536G>A uc021qrd.1 + 1 300 c.9G>A c.(7-9)caG>caA p.Q3Q TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Silent_p.Q3Q|TMPRSS4_uc010rxo.2_Splice_Site_p.D2_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.D2_splice|TMPRSS4_uc010rxq.2_Splice_Site|TMPRSS4_uc010rxr.2_Splice_Site|TMPRSS4_uc010rxt.2_5'UTR NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 3 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TTCAATTACAGGATCCTGACA 0.512000 11 4 0 0 8.12818e-05 0 0 PRSS12 8492 broad.mit.edu 37 4 119256736 119256736 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:119256736G>A uc003ica.2 - 2 759 c.712C>T c.(712-714)Cgt>Tgt p.R238C NM_003619 NP_003610 P56730 NETR_HUMAN Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA. 238 SRCR 1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 CCTCGGCAACGGACATTGCTC 0.453000 73 30 0 0 0.000491102 0 0 DIP2A 23181 broad.mit.edu 37 21 47971610 47971611 + Missense_Mutation DNP CC GT GT TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:47971610_47971611CC>GT uc002zjo.2 + 23 3086_3087 c.2903_2904CC>GT c.(2902-2904)tcc>tGT p.S968C DIP2A_uc011afy.1_Missense_Mutation_p.S904C|DIP2A_uc011afz.1_Missense_Mutation_p.S964C NM_015151 NP_055966 Q14689 DIP2A_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA. 968 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) GCTCAGGCTTCCGGGAGAGAGC 0.624000 23 8 0 0 6.4e-05 0 0 PARP9 83666 broad.mit.edu 37 3 122269585 122269585 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:122269585G>A uc010hri.3 - 5 1422 c.1277C>T c.(1276-1278)tCc>tTc p.S426F PARP9_uc003eff.4_Missense_Mutation_p.S391F|PARP9_uc011bjs.2_Missense_Mutation_p.S391F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S391F|PARP9_uc003efh.3_Missense_Mutation_p.S426F|PARP9_uc003efj.2_Missense_Mutation_p.S391F NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 426 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GGCAGGAAAGGAAATGGAAGT 0.348000 27 14 0 0 0.00074312 0 0 PLS3 5358 broad.mit.edu 37 X 114863527 114863527 + Missense_Mutation SNP A C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:114863527A>C uc004eqe.3 + 3 389 c.255A>C c.(253-255)aaA>aaC p.K85N PLS3_uc010nqf.3_Non-coding_Transcript|PLS3_uc010nqg.3_Intron|PLS3_uc004eqd.3_Missense_Mutation_p.K85N|PLS3_uc011mtf.2_Missense_Mutation_p.K63N|PLS3_uc011mth.2_Missense_Mutation_p.K40N|PLS3_uc011mtg.2_Missense_Mutation_p.K58N NM_001136025 NP_005023 P13797 PLST_HUMAN Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA. 85 EF-hand 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 AAGAGGTAAAAAGTAGTGATA 0.333000 8 9 0 0 0.000274275 0 0 RP1 6101 broad.mit.edu 37 8 55540336 55540336 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:55540336C>T uc003xsd.1 + 3 4042 c.3894C>T c.(3892-3894)ttC>ttT p.F1298F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1298 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) AGGCTTGTTTCCTAGGAGAGG 0.413000 81 57 0 0 0.000781405 0 0 AGBL1 123624 broad.mit.edu 37 15 86790961 86790961 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:86790961C>T uc002blz.1 + 5 528 c.448C>T c.(448-450)Cag>Tag p.Q150* NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 150 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.Q150R(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CGGGCTGCACCAGGACTGGCA 0.632000 13 9 0 0 0.000442599 0 0 TMEM184A 202915 broad.mit.edu 37 7 1595015 1595015 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:1595015C>T uc003skv.4 - 1 423 c.106G>A c.(106-108)Gac>Aac p.D36N TMEM184A_uc021zyr.1_5'UTR NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN Homo sapiens transmembrane protein 184A (TMEM184A), mRNA. 36 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CCCATGTGGTCCATCTGCGGC 0.687000 38 50 0 0 0.000781405 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880595 105880595 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:105880595G>A uc001piy.3 - 2 878 c.705C>T c.(703-705)atC>atT p.I235I MSANTD4_uc001piz.3_Silent_p.I235I NM_032424 NP_115800 Q8NCY6 K1826_HUMAN Homo sapiens KIAA1826 (KIAA1826), mRNA. 235 nucleus TCTCTTTCTCGATTTGTAGGC 0.453000 67 36 0 0 0.000191422 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891372 89891372 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:89891372C>T uc001pdf.4 + 6 965 c.856C>T c.(856-858)Ccc>Tcc p.P286S NAALAD2_uc009yvx.3_Missense_Mutation_p.P286S|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.P286S|NAALAD2_uc001pde.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 286 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACCTGTACATCCCATTGGATA 0.299000 112 33 0 0 0.000814825 0 0 IDE 3416 broad.mit.edu 37 10 94267908 94267908 + Missense_Mutation SNP A T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr10:94267908A>T uc001kia.3 - 7 1191 c.1115T>A c.(1114-1116)tTt>tAt p.F372Y NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 372 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATGATAAAAAACATAAAACC 0.353000 201 52 0 0 0.000781405 0 0 SOGA2 23255 broad.mit.edu 37 18 8826060 8826060 + Silent SNP T C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:8826060T>C uc002knr.2 + 14 4694 c.4552T>C c.(4552-4554)Tta>Cta p.L1518L SOGA2_uc002knq.2_Silent_p.L1477L|SOGA2_uc002kns.2_Silent_p.L858L NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 1828 GAAGCAGGACTTATCTGCTCC 0.602000 9 3 0 0 6.4e-05 0 0 FASTKD2 22868 broad.mit.edu 37 2 207652766 207652766 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:207652766G>C uc002vbu.3 + 8 2110 c.1700G>C c.(1699-1701)cGg>cCg p.R567P FASTKD2_uc002vbv.3_Missense_Mutation_p.R567P|FASTKD2_uc002vbx.3_Missense_Mutation_p.R567P|FASTKD2_uc002vbw.1_Missense_Mutation_p.R567P NM_001136193 NP_055744 Q9NYY8 FAKD2_HUMAN Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA. 567 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CAGCTGCCGCGGGAGCTGCCA 0.493000 53 4 0 0 0.000602214 0 0 BTNL8 79908 broad.mit.edu 37 5 180374511 180374511 + Splice_Site SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:180374511G>A uc003mmp.3 + 4 908 c.674_splice c.e4-1 p.D225_splice BTNL8_uc003mmq.3_Splice_Site_p.D225_splice|BTNL8_uc010jll.3_Splice_Site_p.D225_splice|BTNL8_uc011dhg.2_Splice_Site_p.D100_splice|BTNL8_uc010jlm.3_Splice_Site_p.D109_splice|BTNL8_uc011dhh.2_Splice_Site_p.D41_splice NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 225 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGTTTTTCAGATACCTTTTT 0.393000 168 26 0 0 0.000147802 0 0 AX747991 0 broad.mit.edu 37 19 12799935 12799935 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:12799935G>A uc002mul.1 + 0 321 c.193G>A c.(193-195)Ggg>Agg p.G65R FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_3'UTR|FBXW9_uc010dyx.2_3'UTR Homo sapiens cDNA FLJ35888 fis, clone TESTI2009136. TAGGCCCACGGGGCGGAGGCA 0.662000 5 8 0 0 0.000157383 0 0 MUC16 94025 broad.mit.edu 37 19 9085057 9085057 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:9085057G>A uc002mkp.3 - 0 6962 c.6758C>T c.(6757-6759)tCc>tTc p.S2253F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2253 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2253F(3) 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 AGGGGAGGGGGAAAAGGAGAC 0.458000 37 6 0 0 8.12818e-05 0 0 ALDH7A1 501 broad.mit.edu 37 5 125891679 125891679 + Missense_Mutation SNP A G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:125891679A>G uc003ktx.3 - 11 1229 c.1037T>C c.(1036-1038)gTt>gCt p.V346A ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Intron NM_001201377 NP_001188306 P49419 AL7A1_HUMAN Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. 346 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) TCTGTTTACAACCTCATCATG 0.378000 38 5 0 0 3.59834e-05 0 0 IGSF22 283284 broad.mit.edu 37 11 18738353 18738353 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:18738353C>T uc009yht.2 - 9 1358 c.1168G>A c.(1168-1170)Gat>Aat p.D390N IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 390 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 AGTCTGGCATCCTTAATCTTA 0.527000 78 50 0 0 0.000781405 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087253 39087253 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:39087253G>A uc011aej.1 - 2 260 c.207C>T c.(205-207)aaC>aaT p.N69N KCNJ6_uc002ywo.2_Silent_p.N69N NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 69 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TCTCCCTCACGTTGCCGTGAT 0.478000 67 33 0 0 0.000814825 0 0 MYH1 4619 broad.mit.edu 37 17 10418201 10418201 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:10418201G>A uc002gmo.3 - 5 611 c.517C>T c.(517-519)Cag>Tag p.Q173* AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 173 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AAGATAGACTGATTCTCCCGA 0.323000 170 55 0 0 0.000781405 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506018 44506018 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:44506018C>T uc002xqd.3 + 1 1066 c.821C>T c.(820-822)tCc>tTc p.S274F ZSWIM3_uc010zxg.2_Missense_Mutation_p.S268F NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA. 274 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GAGTTCAACTCCGATTGGCCC 0.532000 35 27 0 0 0.000878237 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834783 27834783 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr6:27834783C>T uc003njx.3 - 0 577 c.525G>A c.(523-525)aaG>aaA p.K175K NM_005322 NP_005313 P16401 H15_HUMAN Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA. 175 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CCTTGGCCTTCTTAGGGCTCT 0.592000 57 55 0 0 0.000781405 0 0 SH3TC1 54436 broad.mit.edu 37 4 8221096 8221096 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:8221096G>T uc003gkv.4 + 8 1052 c.951G>T c.(949-951)caG>caT p.Q317H SH3TC1_uc003gkw.4_Missense_Mutation_p.Q241H|SH3TC1_uc003gkx.4_Non-coding_Transcript NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 317 SH3. 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 CAGACTTCCAGGGCTCGGGGC 0.672000 130 12 1.15088e-07 1.47593e-06 0.000422831 1 0 EIF2C1 26523 broad.mit.edu 37 1 36384665 36384665 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:36384665C>T uc001bzl.3 + 17 2488 c.2275C>T c.(2275-2277)Cga>Tga p.R759* EIF2C1_uc001bzk.3_Nonsense_Mutation_p.R684*|EIF2C1_uc009vuy.3_Non-coding_Transcript NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 759 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGGCACCAGCCGACCATCCCA 0.527000 15 16 0 0 0.000132079 0 0 RP1L1 94137 broad.mit.edu 37 8 10469228 10469228 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:10469228C>T uc003wtc.3 - 3 2609 c.2380G>A c.(2380-2382)Gaa>Aaa p.E794K NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 794 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) CTGGCCTCTTCCCCCAGGCTG 0.692000 56 26 0 0 0.000339439 0 0 NOSIP 51070 broad.mit.edu 37 19 50060402 50060403 + Missense_Mutation DNP GA AC AC TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:50060402_50060403GA>AC uc002pok.3 - 5 514_515 c.362_363TC>GT c.(361-363)atc>aGT p.I121S NOSIP_uc002pol.3_Missense_Mutation_p.I121S|NOSIP_uc010yay.1_Non-coding_Transcript NM_015953 NP_057037 Q9Y314 NOSIP_HUMAN Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA. 121 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) GCCGGCTCACGATAGCCGACTC 0.688000 24 6 0 0 6.4e-05 0 0 C7 730 broad.mit.edu 37 5 40937743 40937743 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:40937743G>A uc003jmh.3 + 5 632 c.518G>A c.(517-519)gGa>gAa p.G173E C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 173 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGTGGGGATGGAAAAGATTTC 0.393000 13 5 0 0 0.000602214 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055492 9055492 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:9055492G>A uc003brf.1 - 15 2524 c.1848C>T c.(1846-1848)atC>atT p.I616I SRGAP3_uc003brg.1_Silent_p.I592I NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 616 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGATTTGTTGGATCTGGTGCA 0.527000 T RAF1 pilocytic astrocytoma 35 20 0 0 0.00047179 0 0 MED12L 116931 broad.mit.edu 37 3 150877703 150877703 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb 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 81 30 0 0 0.000279167 0 0 ARMC5 79798 broad.mit.edu 37 16 31471181 31471181 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:31471181C>T uc010vfn.2 + 2 745 c.621C>T c.(619-621)tcC>tcT p.S207S ARMC5_uc010vfo.2_Silent_p.S144S|ARMC5_uc002ecc.3_Silent_p.S112S|ARMC5_uc002eca.4_Silent_p.S112S|ARMC5_uc002ecb.2_Silent_p.S112S|ARMC5_uc010vfp.2_Silent_p.S112S NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 112 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ccgcccccTCCGCTGTGTCGT 0.741000 5 6 0 0 3.59834e-05 0 0 CNTN6 27255 broad.mit.edu 37 3 1424655 1424655 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:1424655G>A uc003boz.3 + 17 2463 c.2196G>A c.(2194-2196)gaG>gaA p.E732E CNTN6_uc011asj.2_Silent_p.E660E|CNTN6_uc003bpa.3_Silent_p.E732E NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 732 Fibronectin type-III 2. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGAATGGGGAGGGATTTGGAT 0.398000 52 8 0 0 0.000442599 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 155062 155062 + Missense_Mutation SNP G C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:155062G>C uc003jak.2 + 5 1047 c.997G>C c.(997-999)Ggc>Cgc p.G333R NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 333 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGACCTCGACGGCTCCTTTCC 0.562000 27 33 0 0 0.000409698 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383349 61383349 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:61383349G>A uc002ljk.4 + 5 606 c.435G>A c.(433-435)agG>agA p.R145R SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Silent_p.R32R|SERPINB11_uc002ljj.4_Silent_p.R32R|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 146 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) AAGAAACGAGGAAAACGATTA 0.358000 21 11 0 0 0.00010058 0 0 MAP2K7 5609 broad.mit.edu 37 19 7968862 7968862 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:7968862C>T uc002mit.3 + 0 98 c.33C>T c.(31-33)tcC>tcT p.S11S MAP2K7_uc002mis.1_Silent_p.S11S|MAP2K7_uc002miv.2_Silent_p.S11S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_5'UTR|MAP2K7_uc010xkb.2_Silent_p.S11S NM_145185 NP_660186 O14733 MP2K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA. 11 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|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|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) AGAAGCTGTCCCGCCTGGAAG 0.697000 9 10 0 0 6.40141e-05 0 0 IQCH 64799 broad.mit.edu 37 15 67664977 67664977 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:67664977G>A uc002aqo.2 + 8 1379 c.1282G>A c.(1282-1284)Gag>Aag p.E428K IQCH_uc010ujv.2_Missense_Mutation_p.E247K|IQCH_uc002aqn.2_Missense_Mutation_p.E255K|IQCH_uc002aqp.2_Missense_Mutation_p.E180K|IQCH_uc002aqq.2_Missense_Mutation_p.E176K NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 428 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GAGACACCTGGAGAATTTTCG 0.453000 92 19 0 0 0.000295444 0 0 DBC1 1620 broad.mit.edu 37 9 122075564 122075564 + Missense_Mutation SNP G T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr9:122075564G>T uc004bkc.2 - 1 526 c.70C>A c.(70-72)Cac>Aac p.H24N DBC1_uc004bkd.2_Missense_Mutation_p.H24N NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 24 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GGTTCCTGGTGGGAGGGCTGC 0.512000 32 18 0.000175454 0.00218506 0.000175454 1 0 BTNL3 10917 broad.mit.edu 37 5 180424410 180424410 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:180424410G>A uc003mmr.3 + 2 779 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 199 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TATAGTCCAGGAAAATGCTGG 0.488000 19 14 0 0 0.000151284 0 0 WDR72 256764 broad.mit.edu 37 15 53908382 53908382 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr15:53908382C>T uc002acj.2 - 14 2063 c.2021G>A c.(2020-2022)tGg>tAg p.W674* WDR72_uc010bfi.1_Nonsense_Mutation_p.W674* NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 674 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AACGTTACTCCATTTTGTCTT 0.368000 26 14 0 0 0.000422831 0 0 DSCAM 1826 broad.mit.edu 37 21 41725649 41725649 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr21:41725649G>A uc002yyq.1 - 4 1129 c.677C>T c.(676-678)tCc>tTc p.S226F 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. 226 Ig-like C2-type 3. 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.S226S(1) 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) ATCCAGTATGGATGGGGCTGA 0.512000 15 6 0 0 3.59834e-05 0 0 TBCK 93627 broad.mit.edu 37 4 107157662 107157662 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:107157662G>A uc010ilv.2 - 13 1600 c.1235C>T c.(1234-1236)cCt>cTt p.P412L TBCK_uc003hyb.2_Missense_Mutation_p.P155L|TBCK_uc003hye.2_Missense_Mutation_p.P373L|TBCK_uc003hyc.2_Missense_Mutation_p.P349L|TBCK_uc003hyd.2_Missense_Mutation_p.P240L|TBCK_uc003hyf.2_Missense_Mutation_p.P412L NM_001163435 NP_001156908 Q8TEA7 TBCK_HUMAN Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA. 412 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GTTTGAATGAGGTAAATTAGA 0.338000 39 36 0 0 0.000814825 0 0 FBXO46 23403 broad.mit.edu 37 19 46215078 46215078 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:46215078C>T uc002pcz.3 - 1 1799 c.1676G>A c.(1675-1677)gGa>gAa p.G559E FBXO46_uc002pcy.3_Missense_Mutation_p.G559E|FBXO46_uc021uvz.1_Missense_Mutation_p.G559E NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN Homo sapiens F-box protein 46 (FBXO46), mRNA. 559 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GTAGGAACGTCCGTAAGGCAG 0.642000 15 17 0 0 0.000132079 0 0 TXNDC2 84203 broad.mit.edu 37 18 9888079 9888079 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr18:9888079G>A uc002koi.4 + 1 2052 c.1603G>A c.(1603-1605)Gat>Aat p.D535N TXNDC2_uc002koh.4_Missense_Mutation_p.D468N|TXNDC2_uc021ugx.1_Missense_Mutation_p.D468N NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 535 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AGAAAAGGTGGATGAACTTTG 0.428000 10 13 0 0 0.000151284 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7806707 7806707 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:7806707G>A uc010lro.1 + 3 351 c.69G>A c.(67-69)atG>atA p.M23I NM_001193630 NP_001180559 P0CI00 Z705L_HUMAN Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA. 23 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 AGTGGGACATGATGGACACAT 0.418000 176 58 0 0 0.000781405 0 0 CDH17 1015 broad.mit.edu 37 8 95183181 95183182 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr8:95183181_95183182GG>AA uc003ygh.2 - 7 940_941 c.815_816CC>TT c.(814-816)tcc>tTT p.S272F CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.S272F NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 272 Cadherin 3. 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) TGTCAACTAAGGAATATTGTGC 0.450000 47 36 0 0 6.4e-05 0 0 GIF 2694 broad.mit.edu 37 11 59611398 59611398 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:59611398C>T uc001noi.3 - 1 258 c.210G>A c.(208-210)aaG>aaA p.K70K GIF_uc010rkz.1_Silent_p.K70K NM_005142 NP_005133 P27352 IF_HUMAN Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA. 70 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GCTTCTGGGCCTTCAAGTTGT 0.522000 29 18 0 0 0.00074312 0 0 TNRC18 84629 broad.mit.edu 37 7 5348975 5348976 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:5348975_5348976GG>AA uc003soi.4 - 27 8761_8762 c.8412_8413CC>TT c.(8410-8415)gcccgc>gcTTgc p.R2805C NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 2805 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AAGAGCTTGCGGGCCTTGCCCT 0.668000 19 8 0 0 6.4e-05 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810581 65810581 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr11:65810581C>T uc001ogv.3 - 1 853 c.693G>A c.(691-693)gtG>gtA p.V231V GAL3ST3_uc001ogw.3_Silent_p.V231V NM_033036 NP_149025 Q96A11 G3ST3_HUMAN Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA. 231 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 AAACCTCCTCCACCTGGCGGA 0.662000 55 11 0 0 0.000219431 0 0 RNASE10 338879 broad.mit.edu 37 14 20979015 20979015 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr14:20979015G>A uc001vxp.2 + 1 873 c.469G>A c.(469-471)Gag>Aag p.E157K RNASE10_uc010tlj.2_Missense_Mutation_p.E129K NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA. 129 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.E129*(1) endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 12 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CAAGATGAAGGAGCCCAGTCA 0.458000 13 11 0 0 0.00010058 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + Missense_Mutation SNP G A A rs143538588 by1000genomes TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:142482242G>A uc011ksq.2 + 4 705 c.622G>A c.(622-624)Gga>Aga p.G208R TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. GGTCTGCAATGGACAGCTTCA 0.493000 69 5 0 0 3.59834e-05 0 0 EEF2 1938 broad.mit.edu 37 19 3978042 3978042 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:3978042G>A uc002lze.3 - 11 1925 c.1842C>T c.(1840-1842)gcC>gcT p.A614A NM_001961 NP_001952 P13639 EF2_HUMAN Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA. 614 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CGATGTCCTCGGCCAGGCCGT 0.647000 10 4 0 0 0.00024832 0 0 MYH3 4621 broad.mit.edu 37 17 10537449 10537449 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:10537449C>T uc002gmq.2 - 31 4495 c.4407G>A c.(4405-4407)gaG>gaA p.E1469E NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1469 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCAGGGATGCCTCCAGCTCTG 0.507000 109 32 0 0 0.000814825 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510755 26510755 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:26510755C>T uc001bln.4 + 10 1056 c.998C>T c.(997-999)cCc>cTc p.P333L CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.P326L|CNKSR1_uc009vsd.3_Missense_Mutation_p.P68L|CNKSR1_uc009vse.3_Missense_Mutation_p.P68L NM_006314 NP_006305 Q969H4 CNKR1_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA. 333 Pro-rich. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) AACCCCAGTCCCGGACCCAGC 0.627000 92 20 0 0 0.000295444 0 0 WDR53 348793 broad.mit.edu 37 3 196288262 196288262 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:196288262C>T uc003fwt.3 - 2 556 c.85G>A c.(85-87)Gag>Aag p.E29K NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN Homo sapiens WD repeat domain 53 (WDR53), mRNA. 29 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TCTCCGCCCTCTGCTCCAGAA 0.542000 8 10 0 0 0.000673444 0 0 RNF126 55658 broad.mit.edu 37 19 651671 651671 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr19:651671C>T uc010drs.3 - 3 495 c.383G>A c.(382-384)cGc>cAc p.R128H NM_194460 NP_919442 Q9BV68 RN126_HUMAN Homo sapiens ring finger protein 126 (RNF126), mRNA. 128 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCGGGCGCGGGGCTGTCG 0.781000 5 6 0 0 3.59834e-05 0 0 NOMO1 23420 broad.mit.edu 37 16 14968902 14968902 + Silent SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr16:14968902C>T uc002dcv.3 + 18 2130 c.2064C>T c.(2062-2064)atC>atT p.I688I Mir_548_uc021tdj.1_5'Flank NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 688 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GGTCTTCCATCGACAGTGAAC 0.562000 80 29 0 0 0.000191422 0 0 PLXNB3 5365 broad.mit.edu 37 X 153043033 153043033 + Silent SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:153043033G>A uc010nuk.2 + 31 5491 c.5220G>A c.(5218-5220)gtG>gtA p.V1740V PLXNB3_uc004fii.2_Silent_p.V1717V|PLXNB3_uc011mzd.1_Silent_p.V1356V|SRPK3_uc004fik.3_5'UTR NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 1717 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TTCTCAGCGTGAACCGGCCCA 0.612000 53 6 0 0 3.59834e-05 0 0 ZNF282 8427 broad.mit.edu 37 7 148895701 148895701 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:148895701G>A uc003wfm.3 + 1 547 c.442G>A c.(442-444)Gag>Aag p.E148K ZNF282_uc011kun.1_Missense_Mutation_p.E148K|ZNF282_uc003wfn.3_Missense_Mutation_p.E88K|ZNF282_uc003wfo.3_Missense_Mutation_p.E88K NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN Homo sapiens zinc finger protein 282 (ZNF282), mRNA. 148 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) GAACCACATGGAGAGCAAGTG 0.627000 44 52 0 0 0.000781405 0 0 DEFB119 245932 broad.mit.edu 37 20 29977001 29977001 + Silent SNP A G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr20:29977001A>G uc002wvu.1 - 1 214 c.94T>C c.(94-96)Ttg>Ctg p.L32L DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron NM_153323 NP_697018 Q8N690 DB119_HUMAN Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA. 38 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) TCTTTGCACAACAACCGGCAG 0.443000 117 45 0 0 0.000781405 0 0 KRT20 54474 broad.mit.edu 37 17 39041305 39041306 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr17:39041305_39041306GG>AA uc002hvl.3 - 0 190_191 c.132_133CC>TT c.(130-135)atccgc>atTTgc p.R45C NM_019010 NP_061883 P35900 K1C20_HUMAN Homo sapiens keratin 20 (KRT20), mRNA. 45 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TTGGAGATGCGGATGCCCCGGC 0.599000 63 14 0 0 6.4e-05 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302185 128302185 + Missense_Mutation SNP G A A rs142676290 byFrequency TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr5:128302185G>A uc003kuy.3 + 1 751 c.355G>A c.(355-357)Gtt>Att p.V119I SLC27A6_uc003kuz.3_Missense_Mutation_p.V119I NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 119 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GCCGGACTTCGTTCACGTGTG 0.572000 12 12 0 0 0.000219431 0 0 FAM123B 139285 broad.mit.edu 37 X 63411447 63411447 + Missense_Mutation SNP G A A TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chrX:63411447G>A uc022byb.1 - 0 1720 c.1720C>T c.(1720-1722)Cgg>Tgg p.R574W FAM123B_uc004dvo.3_Missense_Mutation_p.R574W NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 574 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) 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 TGCTCCCGCCGAAGCTCCCAA 0.592000 26 30 0 0 0.00058488 0 0 CELSR2 1952 broad.mit.edu 37 1 109806907 109806907 + Missense_Mutation SNP C G G TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:109806907C>G uc001dxa.4 + 9 5270 c.5209C>G c.(5209-5211)Ctg>Gtg p.L1737V NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1737 Laminin G-like 2. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCTGCATGGTCTGCACCTGAG 0.667000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 208 177 0 0 0.000781405 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681886 69681886 + Missense_Mutation SNP A C C TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:69681886A>C uc003hee.3 + 0 174 c.149A>C c.(148-150)cAt>cCt p.H50P UGT2B10_uc011cam.2_Missense_Mutation_p.H50P NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 50 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CAGAGAGGTCATGAGGTGACT 0.418000 117 92 0 0 0.000781405 0 0 TANC1 85461 broad.mit.edu 37 2 160007007 160007007 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr2:160007007C>T uc002uag.3 + 6 896 c.622C>T c.(622-624)Ccc>Tcc p.P208S TANC1_uc010fol.1_Intron|TANC1_uc010zcm.2_Missense_Mutation_p.P207S|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA. 208 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CAACAAAAGTCCCTGTGAGAC 0.507000 34 22 0 0 0.00047179 0 0 CCDC158 339965 broad.mit.edu 37 4 77300459 77300459 + Missense_Mutation SNP C T T TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr4:77300459C>T uc003hkb.4 - 7 1166 c.1013G>A c.(1012-1014)aGg>aAg p.R338K CCDC158_uc003hkd.3_Missense_Mutation_p.R338K NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 338 p.R338R(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTCATACATCCTTTTGGCTTC 0.353000 67 53 0 0 0.000781405 0 0 VAV3 10451 broad.mit.edu 37 1 108507542 108507544 + Splice_Site DEL GCC - - rs71796067 TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr1:108507542_108507544delGCC uc001dvk.1 - 1 1 c.-53_splice c.e1-1 VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CAAGGATGCGgccgccgccgccg 0.773 --- 3 --- --- 3 --- QRICH1 54870 broad.mit.edu 37 3 49114419 49114426 + Frame_Shift_Del DEL AAGGAGAT - - TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr3:49114419_49114426delAAGGAGAT uc010hkq.3 - 2 321_328 c.25_32delATCTCCTT c.(25-33)atctcctttfs p.I9fs QRICH1_uc003cvu.3_Frame_Shift_Del_p.I9fs|QRICH1_uc003cvv.3_Frame_Shift_Del_p.I9fs NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA. 9 CARD. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GTACTCTTCAAAGGAGATGGTGTTCTCT 0.452 --- 103 --- --- 10 --- MLL5 55904 broad.mit.edu 37 7 104715133 104715133 + Frame_Shift_Del DEL G - - TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr7:104715133delG uc003vcm.3 + 7 1134 c.600delG c.(598-600)gtgfs p.V200fs MLL5_uc010lja.1_Frame_Shift_Del_p.V54fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.V200fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.V200fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.V200fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 200 DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 AGGTTCCTGTGGAATTATATA 0.328 --- 171 --- --- 44 --- CLEC4A 50856 broad.mit.edu 37 12 8281937 8281937 + Frame_Shift_Del DEL A - - TCGA-FS-A1ZM-06A-12D-A197-08 TCGA-FS-A1ZM-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d1db56b-5464-45e7-8bca-0cb4655fbfc4 1245a11a-f1d1-448a-a29a-7a2d6e6efacb g.chr12:8281937delA uc001qtz.1 + 2 524 c.277delA c.(277-279)aaafs p.K93fs CLEC4A_uc009zga.1_Frame_Shift_Del_p.K54fs|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA. 93 cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) GGAGTGTGTGAAAAAAAATAT 0.333 --- 219 --- --- 8 ---