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 PCNT 5116 broad.mit.edu 37 21 47831454 47831454 + Missense_Mutation SNP C G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr21:47831454C>G uc002zji.4 + 27 5574 c.5467C>G c.(5467-5469)Cgc>Ggc p.R1823G PCNT_uc002zjj.3_Missense_Mutation_p.R1705G NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1823 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTGCAGCAGCGCCTCCAGGG 0.697000 23 4 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526497 23526497 + Missense_Mutation SNP G T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:23526497G>T uc003jgo.3 + 10 1482 c.1300G>T c.(1300-1302)Gat>Tat p.D434Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 434 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTGCCCAGGGGATCAGAATCA 0.453000 HNSCC(3;0.000094) 85 17 8.00594e-06 8.3305e-06 1 1 0 MSLNL 401827 broad.mit.edu 37 16 825590 825590 + Missense_Mutation SNP A T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr16:825590A>T uc002cjz.1 - 4 1171 c.1171T>A c.(1171-1173)Tgg>Agg p.W391R NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 110 cell adhesion integral to membrane p.W391L(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CTCAGGCCCCAGTCCCCACCC 0.706000 23 6 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26107512 26107512 + Missense_Mutation SNP T A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr1:26107512T>A uc001bkm.2 + 9 1889 c.1559T>A c.(1558-1560)aTc>aAc p.I520N MAN1C1_uc009vry.1_Missense_Mutation_p.I340N NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA. 520 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) AGCTACTACATCCTCCGGCCA 0.612000 81 4 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75263721 75263721 + Silent SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr16:75263721G>A uc002fdv.3 - 6 2447 c.2301C>T c.(2299-2301)acC>acT p.T767T BCAR1_uc002fdt.3_Silent_p.T220T|BCAR1_uc002fdu.3_Silent_p.T557T|BCAR1_uc010vna.2_Silent_p.T765T|BCAR1_uc010cgu.3_Silent_p.T785T|BCAR1_uc010vnb.2_Silent_p.T813T|BCAR1_uc002fdw.3_Silent_p.T767T|BCAR1_uc010vnc.2_Silent_p.T619T|BCAR1_uc010vnd.2_Silent_p.T785T|BCAR1_uc002fdx.3_Silent_p.T785T NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 767 Divergent helix-loop-helix motif. B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGCCACGGCGGTAAAGAAGG 0.632000 88 4 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78380168 78380168 + Missense_Mutation SNP C A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:78380168C>A uc001ozl.4 - 31 7685 c.7222G>T c.(7222-7224)Gat>Tat p.D2408Y ODZ4_uc001ozk.4_Missense_Mutation_p.D633Y NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2408 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GTGAGTGGATCATAGAGGCCA 0.517000 67 16 1.52009e-12 1.69633e-12 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412534 105412534 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr14:105412534C>T uc010axc.1 - 6 9374 c.9254G>A c.(9253-9255)gGc>gAc p.G3085D AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G2985D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3085 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGCTTGGGGCCCTTGACATC 0.632000 234 6 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36680565 36680565 + Missense_Mutation SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:36680565G>A uc003jkj.4 + 7 1639 c.1163G>A c.(1162-1164)aGa>aAa p.R388K SLC1A3_uc011cox.2_Missense_Mutation_p.R281K|SLC1A3_uc010iuy.3_Missense_Mutation_p.R388K NM_004172 NP_004163 P43003 EAA1_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA. 388 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CGCGTCACCAGATTCGTGCTC 0.507000 59 25 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221057861 221057861 + Missense_Mutation SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr1:221057861G>A uc001hmv.4 + 3 1739 c.1282G>A c.(1282-1284)Ggc>Agc p.G428S NM_021958 NP_068777 Q14774 HLX_HUMAN Homo sapiens H2.0-like homeobox (HLX), mRNA. 428 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S427G(1)|p.G431delG(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) tgggagcagcggcggcggcgg 0.642000 22 3 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35719087 35719087 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr19:35719087C>T uc002nyk.1 - 0 542 c.497G>A c.(496-498)cGc>cAc p.R166H NM_152481 NP_689694 Q17R55 F187B_HUMAN Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA. 166 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 CTCAATGTAGCGGTACCCCAG 0.607000 65 4 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78380925 78380925 + Missense_Mutation SNP C A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:78380925C>A uc001ozl.4 - 31 6928 c.6465G>T c.(6463-6465)caG>caT p.Q2155H ODZ4_uc001ozk.4_Missense_Mutation_p.Q380H NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2155 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 AGATCTCATACTGCACTTCCT 0.468000 82 14 4.36969e-10 4.67314e-10 1 1 0 NOS1AP 9722 broad.mit.edu 37 1 162325027 162325027 + Missense_Mutation SNP A T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr1:162325027A>T uc001gbv.2 + 6 1033 c.646A>T c.(646-648)Act>Tct p.T216S NOS1AP_uc010pkr.1_Missense_Mutation_p.T211S|NOS1AP_uc001gbw.2_Missense_Mutation_p.T211S|NOS1AP_uc010pks.1_Non-coding_Transcript NM_014697 NP_055512 O75052 CAPON_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA. 216 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity PDZ domain binding|nitric-oxide synthase binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) TGCAGAGGAGACTGACATCGA 0.582000 57 15 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18329228 18329228 + Silent SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr19:18329228G>A uc010xqc.2 - 9 1626 c.1146C>T c.(1144-1146)caC>caT p.H382H PDE4C_uc002nik.4_Silent_p.H382H|PDE4C_uc002nil.4_Silent_p.H382H|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Silent_p.H152H|PDE4C_uc010ebk.3_Silent_p.H276H|PDE4C_uc002nii.4_Silent_p.H350H|PDE4C_uc002nif.4_Silent_p.H151H|PDE4C_uc010ebl.3_Silent_p.H96H NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 382 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CCACATTGGCGTGGTAGTGAC 0.617000 153 10 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T C C TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 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 24 4 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr20:33345744C>T uc002xav.3 - 7 3378 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(29) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 40 3 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78380288 78380288 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:78380288C>T uc001ozl.4 - 31 7565 c.7102G>A c.(7102-7104)Gct>Act p.A2368T ODZ4_uc001ozk.4_Missense_Mutation_p.A593T NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2368 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CTAAAGACAGCAAGAGGGGTC 0.478000 255 35 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37173934 37173934 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:37173934C>T uc011cpa.1 - 31 6325 c.6094G>A c.(6094-6096)Gaa>Aaa p.E2032K C5orf42_uc011coy.1_Missense_Mutation_p.E532K|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.E1107K|C5orf42_uc003jkr.1_Missense_Mutation_p.E65K NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2032 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GCCGTGAATTCATTTCTCTGG 0.398000 94 11 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265493 39265493 + Missense_Mutation SNP T G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr13:39265493T>G uc001uwv.3 + 0 4321 c.4012T>G c.(4012-4014)Tct>Gct p.S1338A NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1338 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGAAGACAAATCTTTGGTTTA 0.343000 38 30 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108196953 108196953 + Splice_Site SNP G C C TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:108196953G>C uc001pkb.1 + 47 7360 c.6975_splice c.e47+1 p.A2325_splice ATM_uc009yxr.1_Splice_Site_p.A2325_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Splice_Site_p.A977_splice|ATM_uc001pkg.1_Splice_Site_p.A682_splice NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2325 FAT. DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTGTGCAGCGGTTTGTTTTTT 0.343000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 15 17 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6592235 6592235 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:6592235C>T uc001mdw.4 + 41 14057 c.13493C>T c.(13492-13494)aCg>aTg p.T4498M DNHD1_uc001mea.4_Missense_Mutation_p.T767M|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Missense_Mutation_p.T766M|DNHD1_uc010rao.2_Missense_Mutation_p.T756M|DNHD1_uc009yfg.3_Missense_Mutation_p.T123M NM_144666 NP_653267 Q96M86 DNHD1_HUMAN Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA. 4498 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTGGTGGGCACGCTACAACGC 0.672000 57 7 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831449 47831449 + Missense_Mutation SNP A T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr21:47831449A>T uc002zji.4 + 27 5569 c.5462A>T c.(5461-5463)cAg>cTg p.Q1821L PCNT_uc002zjj.3_Missense_Mutation_p.Q1703L NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1821 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GAGGCCCTGCAGCAGCGCCTC 0.692000 23 4 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130025091 130025091 + Missense_Mutation SNP A T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr7:130025091A>T uc003vpx.3 + 7 964 c.892A>T c.(892-894)Aac>Tac p.N298Y CPA1_uc003vpw.2_Missense_Mutation_p.N132Y NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 298 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) GGACCATGGGAACATCAAGGC 0.527000 101 5 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55594221 55594221 + Missense_Mutation SNP A G G rs121913512 TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr4:55594221A>G uc010igr.3 + 12 2011 c.1924A>G c.(1924-1926)Aaa>Gaa p.K642E KIT_uc010igs.3_Missense_Mutation_p.K638E|KIT_uc010igt.2_Missense_Mutation_p.K91E NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 642 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K642E(100)|p.K642Q(2) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTCTGAACTCAAAGTCCTGAG 0.438000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 137 122 0 0 1 0 0 LNX2 222484 broad.mit.edu 37 13 28127364 28127364 + Missense_Mutation SNP T C C TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr13:28127364T>C uc001url.4 - 7 2068 c.1759A>G c.(1759-1761)Atg>Gtg p.M587V LNX2_uc001urm.1_Missense_Mutation_p.M587V NM_153371 NP_699202 Q8N448 LNX2_HUMAN Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA. 587 zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CCAAGCCACATGACCCATGAT 0.483000 58 21 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47563064 47563064 + Missense_Mutation SNP G A A rs142329918 TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr4:47563064G>A uc003gxk.1 + 13 2804 c.2640G>A c.(2638-2640)atG>atA p.M880I ATP10D_uc003gxl.1_Missense_Mutation_p.M128I NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 880 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AATCTGCCATGAGGTTGGAGA 0.378000 103 12 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152576787 152576787 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr6:152576787C>T uc021zhb.1 - 100 19422 c.19199G>A c.(19198-19200)cGt>cAt p.R6400H SYNE1_uc003qos.4_Missense_Mutation_p.R924H|SYNE1_uc003qot.4_Missense_Mutation_p.R6329H|SYNE1_uc003qou.4_Missense_Mutation_p.R6400H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6400 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACAAATAAACGTTCTTCAAC 0.448000 HNSCC(10;0.0054) 38 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82546073 82546073 + Missense_Mutation SNP C A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr7:82546073C>A uc003uhx.2 - 6 11518 c.11229G>T c.(11227-11229)atG>atT p.M3743I PCLO_uc003uhv.2_Missense_Mutation_p.M3743I|PCLO_uc010lec.3_Missense_Mutation_p.M708I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3674 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAACTGTGCCCATTGTGCTGA 0.478000 102 5 0.000602214 0.000602214 1 1 0 EHD3 30845 broad.mit.edu 37 2 31489524 31489524 + Missense_Mutation SNP T G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr2:31489524T>G uc002rnu.3 + 5 2170 c.1562T>G c.(1561-1563)cTg>cGg p.L521R EHD3_uc010ymt.2_3'UTR NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 521 EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding p.E520K(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CCCAACGAGCTGCCTGCCCAC 0.612000 76 24 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121785606 121785606 + Silent SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:121785606G>A uc003ksw.1 + 8 1865 c.1659G>A c.(1657-1659)gaG>gaA p.E553E SNCAIP_uc011cwl.1_Silent_p.E111E|SNCAIP_uc003ksy.1_Silent_p.E187E|SNCAIP_uc003ksx.1_Silent_p.E600E|SNCAIP_uc003ksz.1_Silent_p.E187E|SNCAIP_uc010jcu.2_Silent_p.E149E|SNCAIP_uc011cwm.1_Silent_p.E187E|SNCAIP_uc003kta.1_Silent_p.E185E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.E247E|SNCAIP_uc010jcx.1_Silent_p.E493E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.E69E NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 553 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGAAATCAGAGGGCAAGTCAC 0.428000 99 6 0 0 1 0 0 CCDC90B 60492 broad.mit.edu 37 11 82991220 82991220 + Missense_Mutation SNP C G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:82991220C>G uc001pae.3 - 1 546 c.184G>C c.(184-186)Gat>Cat p.D62H CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.D53H NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA. 62 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) GCATGGGTATCAAAAGTTAAT 0.393000 126 55 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47939474 47939474 + Missense_Mutation SNP G T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr4:47939474G>T uc003gxu.3 - 9 1385 c.1244C>A c.(1243-1245)gCt>gAt p.A415D BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.A346D NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 346 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 GTATTTTCTAGCCAAACGGCC 0.418000 139 8 3.09899e-07 3.26879e-07 1 1 0 MACC1 346389 broad.mit.edu 37 7 20180699 20180699 + Missense_Mutation SNP A G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr7:20180699A>G uc003sus.4 - 6 2738 c.2429T>C c.(2428-2430)cTt>cCt p.L810P MACC1_uc010kug.3_Missense_Mutation_p.L810P NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 810 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AGCTGACTGAAGGTCTTGTAA 0.353000 122 8 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150901209 150901209 + Missense_Mutation SNP G A A rs142359154 TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:150901209G>A uc003lue.4 - 17 10958 c.10945C>T c.(10945-10947)Cgg>Tgg p.R3649W FAT2_uc003lud.4_Missense_Mutation_p.R342W NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 3649 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCAGGTTCCGCCAGTGGTCA 0.607000 30 20 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73676231 73676231 + Silent SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr2:73676231G>A uc002sje.1 + 7 2685 c.2574G>A c.(2572-2574)gcG>gcA p.A858A ALMS1_uc002sjf.1_Silent_p.A816A|ALMS1_uc002sjg.3_Silent_p.A246A|ALMS1_uc002sjh.1_Silent_p.A246A NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 858 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A858A(2) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTTCCTCTGCGTCCTCTTCAC 0.488000 58 4 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34985290 34985290 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr10:34985290C>T uc010qej.2 - 1 508 c.178G>A c.(178-180)Gac>Aac p.D60N PARD3_uc010qep.2_Missense_Mutation_p.D60N|PARD3_uc010qeq.2_Missense_Mutation_p.D60N|PARD3_uc010qek.2_Missense_Mutation_p.D60N|PARD3_uc010qel.2_Missense_Mutation_p.D60N|PARD3_uc010qem.2_Missense_Mutation_p.D60N|PARD3_uc010qen.2_Missense_Mutation_p.D60N|PARD3_uc010qeo.2_Missense_Mutation_p.D60N|PARD3_uc001ixr.2_Missense_Mutation_p.D60N|PARD3_uc001ixq.2_Missense_Mutation_p.D60N|PARD3_uc001ixp.2_Missense_Mutation_p.D60N|PARD3_uc001ixu.2_Missense_Mutation_p.D60N NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 60 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCATCAAGGTCTAGTATTCCT 0.408000 164 5 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3349757 3349757 + Silent SNP G A A rs148242088 TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr16:3349757G>A uc021tcc.1 - 0 858 c.858C>T c.(856-858)gaC>gaT p.D286D ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Silent_p.D286D NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA. 286 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 TGACGTCCTCGTCATGAAATC 0.413000 43 19 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414449 121414449 + Missense_Mutation SNP C A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr3:121414449C>A uc010hrc.3 - 12 5047 c.4921G>T c.(4921-4923)Gtg>Ttg p.V1641L GOLGB1_uc003eei.4_Missense_Mutation_p.V1636L|GOLGB1_uc003eej.4_Missense_Mutation_p.V1602L|GOLGB1_uc021xcy.1_Missense_Mutation_p.V1561L|GOLGB1_uc011bjm.1_Missense_Mutation_p.V1522L|GOLGB1_uc010hrd.1_Missense_Mutation_p.V1600L NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 1636 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ACAGCTTCCACCACATGCTGA 0.428000 80 10 2.17888e-05 2.23698e-05 1 1 0 CCDC90B 60492 broad.mit.edu 37 11 82991241 82991241 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:82991241C>T uc001pae.3 - 1 525 c.163G>A c.(163-165)Gaa>Aaa p.E55K CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.E46K NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA. 55 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) TTCCTTTGTTCTAAAGGAGTT 0.378000 130 62 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34800252 34800252 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr20:34800252C>T uc010gfq.3 + 5 2798 c.2435C>T c.(2434-2436)cCg>cTg p.P812L EPB41L1_uc002xeu.3_Missense_Mutation_p.P639L|EPB41L1_uc010zvo.1_Missense_Mutation_p.P713L|EPB41L1_uc002xev.3_Missense_Mutation_p.P713L|EPB41L1_uc002xew.3_Missense_Mutation_p.P604L|EPB41L1_uc002xex.3_Missense_Mutation_p.P533L|EPB41L1_uc002xey.3_Missense_Mutation_p.P491L|EPB41L1_uc002xez.3_Missense_Mutation_p.P639L|EPB41L1_uc002xfb.3_Missense_Mutation_p.P713L NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 713 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AAGATTGAGCCGGAGGCCGTA 0.493000 73 8 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9458656 9458656 + Missense_Mutation SNP C G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr2:9458656C>G uc002qzh.2 + 3 689 c.349C>G c.(349-351)Cag>Gag p.Q117E ASAP2_uc002qzi.2_Missense_Mutation_p.Q117E NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 117 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TTTTTAGATTCAGAATATGAA 0.393000 15 3 0 0 1 0 0 CCDC90B 60492 broad.mit.edu 37 11 82991211 82991211 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:82991211C>T uc001pae.3 - 1 555 c.193G>A c.(193-195)Gca>Aca p.A65T CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.A56T NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA. 65 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) TGAACCAATGCATGGGTATCA 0.388000 124 62 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45954714 45954714 + Splice_Site SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr10:45954714C>T uc001jci.1 - 6 663 c.424_splice c.e6-1 p.W142_splice MARCH8_uc001jch.2_Splice_Site_p.W424_splice|MARCH8_uc001jcj.1_Splice_Site_p.W142_splice|MARCH8_uc001jck.1_Splice_Site_p.W142_splice|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Splice_Site_p.W11_splice NM_001002266 NP_659458 Q5T0T0 MARH8_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA. 142 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 CAACTTCTCCCACTAGAAAGA 0.532000 52 6 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78380919 78380919 + Missense_Mutation SNP C A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:78380919C>A uc001ozl.4 - 31 6934 c.6471G>T c.(6469-6471)gaG>gaT p.E2157D ODZ4_uc001ozk.4_Missense_Mutation_p.E382D NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2157 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 AGCGGAAGATCTCATACTGCA 0.478000 84 16 6.72482e-11 7.29312e-11 1 1 0 LOC338651 338651 broad.mit.edu 37 11 1619504 1619504 + Missense_Mutation SNP G T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:1619504G>T uc009ycx.1 + 1 1355 c.604G>T c.(604-606)Gca>Tca p.A202S MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_5'UTR Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA. TGAGGGTGGAGCAGGTAGAGG 0.622000 157 8 5.16669e-11 5.68335e-11 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302737 145302737 + Missense_Mutation SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr1:145302737G>A uc021oul.1 + 7 1210 c.1175G>A c.(1174-1176)cGc>cAc p.R392H NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R392H|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.R121H|NBPF10_uc021oum.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 392 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGCCTCCCGCTCATTGAAT 0.557000 102 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140181071 140181071 + Missense_Mutation SNP G C C TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:140181071G>C uc003lhf.2 + 0 289 c.289G>C c.(289-291)Ggg>Cgg p.G97R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G97R NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 112 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.G97R(2)|p.G97W(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACTGTGCGGGCGGAGCGC 0.557000 247 5 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465813 10465813 + Missense_Mutation SNP T A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr8:10465813T>A uc003wtc.3 - 3 6024 c.5795A>T c.(5794-5796)gAg>gTg p.E1932V NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1932 intracellular signal transduction p.E1932*(1) 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) TGACTCTGGCTCGTCCTCCCC 0.607000 185 18 0 0 1 0 0 ATP1B3 483 broad.mit.edu 37 3 141644533 141644533 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr3:141644533C>T uc003eug.1 + 6 1004 c.830C>T c.(829-831)gCa>gTa p.A277V ATP1B3_uc011bne.1_Non-coding_Transcript NM_001679 NP_001670 P54709 AT1B3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 3 polypeptide (ATP1B3), mRNA. 277 ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity cervix(1)|endometrium(1)|lung(2) 4 AAAATCACAGCACGTGCATAG 0.393000 90 27 0 0 1 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077303 45077303 + Missense_Mutation SNP G T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr3:45077303G>T uc003cok.4 + 2 592 c.496G>T c.(496-498)Gat>Tat p.D166Y NM_003278 NP_003269 P05452 TETN_HUMAN Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA. 166 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCGCAACCCGATGGCGGCAA 0.657000 53 23 1.1804e-14 1.37713e-14 1 1 0 TIMD4 91937 broad.mit.edu 37 5 156349163 156349163 + Missense_Mutation SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:156349163G>A uc003lwh.2 - 6 1016 c.959C>T c.(958-960)gCc>gTc p.A320V TIMD4_uc010jii.2_Missense_Mutation_p.A292V|TIMD4_uc003lwg.2_Missense_Mutation_p.A22V NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 320 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAAGGAGGGGGCGATGATCAT 0.527000 32 3 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393443 139393443 + Missense_Mutation SNP A G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr9:139393443A>G uc004chz.3 - 32 6088 c.6088T>C c.(6088-6090)Tcc>Ccc p.S2030P NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 2030 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGCAGGGCGGACTTGCCTGCG 0.622000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 83 12 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78372521 78372521 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:78372521C>T uc001ozl.4 - 32 7987 c.7524G>A c.(7522-7524)atG>atA p.M2508I ODZ4_uc001ozk.4_Missense_Mutation_p.M733I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2508 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CCTGCGTTTTCATCTGTGTGT 0.527000 56 7 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9236941 9236941 + Missense_Mutation SNP G T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr19:9236941G>T uc010xkl.2 - 0 686 c.686C>A c.(685-687)cCa>cAa p.P229Q NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 ACCAGCTGATGGAATTTTCAT 0.423000 158 14 1.52009e-12 1.69633e-12 1 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T C C rs148060711 by1000genomes TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr21:14414844T>C uc002yiy.3 + 1 c.281T>C ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. ACTGGGCCTGTGCCAATGGCC 0.433000 35 3 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56322100 56322100 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr4:56322100C>T uc003haz.1 - 13 1872 c.946G>A c.(946-948)Gat>Aat p.D316N CLOCK_uc003hba.1_Missense_Mutation_p.D316N NM_004898 NP_004889 O15516 CLOCK_HUMAN Homo sapiens clock homolog (mouse) (CLOCK), mRNA. 316 PAS 2. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TCTAGGTCATCCACATGATAG 0.348000 238 6 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49494741 49494741 + Splice_Site SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr19:49494741C>T uc002plp.3 - 2 360 c.119_splice c.e2-1 p.V40_splice GYS1_uc010emm.3_Splice_Site_p.V40_splice|GYS1_uc010xzz.2_Intron|GYS1_uc010yaa.1_Intron|RUVBL2_uc010yab.2_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 40 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) ATGCCACCCACTGTGGGCCCA 0.677000 193 10 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672004 186672004 + Missense_Mutation SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr2:186672004G>A uc002upl.3 + 16 18238 c.18238G>A c.(18238-18240)Gcc>Acc p.A6080T FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. p.A689T(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CCAAAAGTTGGCCCAAACAGC 0.353000 72 13 0 0 1 0 0 GZMH 2999 broad.mit.edu 37 14 25077538 25077538 + Silent SNP G T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr14:25077538G>T uc001wpr.1 - 1 181 c.136C>A c.(136-138)Cgg>Agg p.R46R GZMH_uc010aly.1_Silent_p.R46R|GZMH_uc010alz.1_Silent_p.R46R NM_033423 NP_219491 P20718 GRAH_HUMAN Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA. 46 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) CACCTCTTCCGACTCTTCTCT 0.562000 189 5 0.000157383 0.000159454 1 1 0 BIRC5 332 broad.mit.edu 37 17 76212766 76212766 + Silent SNP G C C TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr17:76212766G>C uc002jvg.3 + 2 364 c.243G>C c.(241-243)tcG>tcC p.S81S BIRC5_uc002jve.1_Intron|BIRC5_uc002jvd.1_Silent_p.S104S|BIRC5_uc010dhl.1_Silent_p.S129S|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc002jvf.3_Silent_p.S104S|BIRC5_uc002jvh.3_Intron|BIRC5_uc002jvi.3_Non-coding_Transcript NM_001168 NP_001159 O15392 BIRC5_HUMAN Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA. 81 G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) AAAAGCATTCGTCCGGTTGCG 0.448000 76 12 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90419893 90419893 + Missense_Mutation SNP A G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr7:90419893A>G uc003uky.2 + 4 692 c.470A>G c.(469-471)aAt>aGt p.N157S CDK14_uc003ukt.1_Missense_Mutation_p.N111S|CDK14_uc003ukv.1_Missense_Mutation_p.N111S|CDK14_uc003uku.1_Missense_Mutation_p.N111S|CDK14_uc003ukx.1_Non-coding_Transcript|CDK14_uc003ukz.1_Missense_Mutation_p.N139S|CDK14_uc010les.1_Missense_Mutation_p.N111S|CDK14_uc011khl.1_Missense_Mutation_p.N28S NM_012395 NP_036527 O94921 CDK14_HUMAN Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA. 157 Protein kinase. G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 CACAGGGTAAATGGGAAGTTG 0.363000 46 12 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74872667 74872667 + Silent SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:74872667C>T uc003kdw.3 + 5 699 c.603C>T c.(601-603)taC>taT p.Y201Y POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kea.3_Silent_p.Y201Y|POLK_uc003keb.3_Silent_p.Y201Y|POLK_uc010izq.3_Silent_p.Y201Y|POLK_uc003kec.3_Silent_p.Y111Y|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Silent_p.Y111Y|POLK_uc003kee.3_Silent_p.Y201Y NM_016218 NP_057302 Q9UBT6 POLK_HUMAN Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA. 201 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) ATGAAGCCTACTTGAATATAA 0.338000 DNA polymerases (catalytic subunits) 22 13 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321635 40321635 + Missense_Mutation SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr17:40321635G>A uc002hzb.2 - 8 1783 c.1450C>T c.(1450-1452)Cgc>Tgc p.R484C NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 484 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGCGAGCGGCGCGAGTACATG 0.647000 63 7 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156635998 156635998 + Silent SNP G A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:156635998G>A uc003lwo.1 + 1 319 c.237G>A c.(235-237)ccG>ccA p.P79P NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 79 PH. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P79P(2) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATAAATACCCGTTTCAGGTAA 0.488000 T SYK peripheral T-cell lymphoma 22 8 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113943774 113943774 + Missense_Mutation SNP G C C TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr2:113943774G>C uc002tjc.3 + 4 1753 c.1570G>C c.(1570-1572)Gcc>Ccc p.A524P PSD4_uc002tjd.3_Missense_Mutation_p.A145P|PSD4_uc002tje.3_Missense_Mutation_p.A495P|PSD4_uc002tjf.3_Missense_Mutation_p.A145P NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 524 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGAAGGAACAGCCAGGCCTGC 0.517000 18 17 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475156 32475156 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr2:32475156C>T uc002roi.3 - 3 2038 c.1777G>A c.(1777-1779)Gat>Aat p.D593N NLRC4_uc021vfq.1_Missense_Mutation_p.D593N|NLRC4_uc002roj.2_Missense_Mutation_p.D593N|NLRC4_uc010ezt.2_Intron NM_001199138 NP_001186067 Q9NPP4 NLRC4_HUMAN Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA. 593 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.D593N(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AATAAGTAATCGGGGATGTTC 0.398000 49 30 0 0 1 0 0 CCDC90B 60492 broad.mit.edu 37 11 82989807 82989807 + Missense_Mutation SNP C G G TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:82989807C>G uc001pae.3 - 2 648 c.286G>C c.(286-288)Gat>Cat p.D96H CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.D87H NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA. 96 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) TAGATAGTATCCAGGCTGACA 0.328000 107 66 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110384573 110384573 + Missense_Mutation SNP C A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr4:110384573C>A uc003hzk.3 + 1 705 c.650C>A c.(649-651)cCg>cAg p.P217Q SEC24B_uc003hzl.3_Missense_Mutation_p.P217Q|SEC24B_uc011cfp.2_Missense_Mutation_p.P248Q|SEC24B_uc011cfq.2_Missense_Mutation_p.P217Q|SEC24B_uc011cfr.2_Missense_Mutation_p.P217Q NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 217 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAGAATGCTCCGACTGTTAGG 0.458000 57 25 2.44723e-14 2.81249e-14 1 1 0 WHSC1L1 54904 broad.mit.edu 37 8 38146118 38146118 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr8:38146118C>T uc003xli.3 - 18 3906 c.3388G>A c.(3388-3390)Gct>Act p.A1130T WHSC1L1_uc011lbm.2_Missense_Mutation_p.A1130T|WHSC1L1_uc010lwe.3_Missense_Mutation_p.A1081T NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 1130 AWS. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CGATCTCCAGCTGGGCACACC 0.527000 T NUP98 AML 36 20 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165584 50165584 + Splice_Site SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr19:50165584C>T uc002poy.2 - 5 1621 c.602_splice c.e5-1 p.E201_splice IRF3_uc021uxp.1_Splice_Site_p.E55_splice|IRF3_uc021uxq.1_Splice_Site_p.E55_splice|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Splice_Site_p.E201_splice|IRF3_uc021uxo.1_Splice_Site_p.E166_splice|IRF3_uc002pou.3_Splice_Site_p.E201_splice|IRF3_uc010end.2_Splice_Site_p.E201_splice|IRF3_uc002poz.1_Splice_Site_p.E201_splice|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank NM_001197126 NP_001184055 Q14653 IRF3_HUMAN Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA. 201 Involved in HERC5 binding. MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CGAACTCCCACTCTGAGCAGC 0.662000 54 5 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102826367 102826367 + Missense_Mutation SNP G A A rs148856037 TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:102826367G>A uc001phl.3 - 0 97 c.68C>T c.(67-69)cCc>cTc p.P23L NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 23 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) ACCACCACTGGGAAGGGGCAG 0.517000 661 17 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833659 31833659 + Missense_Mutation SNP C T T TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr6:31833659C>T uc010jti.3 - 13 1544 c.1478G>A c.(1477-1479)cGc>cAc p.R493H NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.R417H|SLC44A4_uc011dom.2_Missense_Mutation_p.R451H NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 493 R -> C (in dbSNP:rs6915800). integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) CCGGAGTGTGCGGATGAAGGC 0.607000 79 4 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39906910 39906911 + Frame_Shift_Ins INS - A A TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr1:39906910_39906911insA uc021olw.1 + 38 13914_13915 c.13914_13915insA c.(13912-13917)tgggagfs p.W4638fs MACF1_uc021ols.1_Frame_Shift_Ins_p.W4133fs|MACF1_uc021olt.1_Frame_Shift_Ins_p.W4136fs NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 6204 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATAATGCTTGGGAGAACTTAAA 0.436 --- 140 --- --- 9 --- CNTN3 5067 broad.mit.edu 37 3 74350629 74350630 + Frame_Shift_Del DEL TC - - TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr3:74350629_74350630delTC uc003dpm.1 - 14 2094_2095 c.2014_2015delGA c.(2014-2016)gaafs p.E672fs NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 672 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AACCCGAAATTCATATTCCACC 0.426 --- 100 --- --- 13 --- C5orf42 65250 broad.mit.edu 37 5 37173877 37173877 + Frame_Shift_Del DEL C - - TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr5:37173877delC uc011cpa.1 - 31 6382 c.6151delG c.(6151-6153)gaafs p.E2051fs C5orf42_uc011coy.1_Frame_Shift_Del_p.E551fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.E1126fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.E84fs NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2051 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTAAACATTTCATCTTGCAGC 0.378 --- 104 --- --- 20 --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + Splice_Site INS - T T rs35342965 by1000genomes TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr11:102738793_102738794insT uc001phk.3 - 5 727 c.630_splice c.e5+1 p.T210_splice NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 210 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 --- 140 --- --- 32 --- ZNF207 7756 broad.mit.edu 37 17 30693707 30693710 + Frame_Shift_Del DEL AAGT - - TCGA-EB-A57M-01A-51D-A30X-08 TCGA-EB-A57M-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a344a0d5-f9bd-4b46-9a41-d4fd881eaca2 32d9ed88-5030-4295-bd1e-5c1d052a18f8 g.chr17:30693707_30693710delAAGT uc010csz.3 + 9 1208_1211 c.861_864delAAGT c.(859-864)tcaagtfs p.S287fs ZNF207_uc002hhj.4_Frame_Shift_Del_p.S284fs|ZNF207_uc002hhh.4_Frame_Shift_Del_p.S268fs|ZNF207_uc002hhi.4_Intron|ZNF207_uc002hhk.1_Frame_Shift_Del_p.S284fs|ZNF207_uc002hhl.1_Non-coding_Transcript O43670 ZN207_HUMAN Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA. 268 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TCACAAGCTCAAGTACAGCTTCAT 0.387 --- 54 --- --- 7 ---