Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample SPEN 23013 broad.mit.edu 37 1 16257094 16257094 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:16257094C>T ENST00000375759.3 + 11 4563 c.4359C>T c.(4357-4359)tcC>tcT p.S1453S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1453 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.S1453S(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GAGCTAAATCCCTCTCTTCAT 0.363 66 163 --- --- --- --- ARHGEF10L 55160 broad.mit.edu 37 1 17958926 17958926 + Silent SNP C C T rs116425261 by1000genomes TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:17958926C>T ENST00000361221.3 + 16 1854 c.1695C>T c.(1693-1695)ctC>ctT p.L565L ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 565 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.L565L(3) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TCTTCCTGCTCAACGACATGC 0.602 7 288 --- --- --- --- NBPF3 84224 broad.mit.edu 37 1 21799965 21799965 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:21799965C>A ENST00000318220.6 + 10 1707 c.659C>A c.(658-660)tCc>tAc p.S220Y NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 276 cytoplasm p.S276Y(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCTTGTGAGTCCAACCAGCCT 0.493 7 436 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35855556 35855556 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:35855556A>G ENST00000314607.6 + 15 2524 c.2444A>G c.(2443-2445)aAa>aGa p.K815R ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 815 multicellular organismal development DNA binding|zinc ion binding p.K815R(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAGATGGCCAAATGTGATGCT 0.368 24 87 --- --- --- --- NSUN4 387338 broad.mit.edu 37 1 46818651 46818651 + Nonsense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:46818651C>A ENST00000474844.1 + 4 1354 c.704C>A c.(703-705)tCa>tAa p.S235* NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Nonsense_Mutation_p.S186*|NSUN4_ENST00000537428.1_Nonsense_Mutation_p.S186* NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 235 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) CGAGTTACCTCATGGGATGGC 0.517 4 201 --- --- --- --- C1orf173 127254 broad.mit.edu 37 1 75072359 75072359 + Missense_Mutation SNP A A T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:75072359A>T ENST00000326665.5 - 10 1633 c.1415T>A c.(1414-1416)gTg>gAg p.V472E RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 472 Glu-rich. p.V472E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CATTTCCTCCACAGCAGTTAC 0.363 9 495 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91989955 91989955 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:91989955C>A ENST00000428239.1 + 12 1947 c.1688C>A c.(1687-1689)gCt>gAt p.A563D CDC7_ENST00000430031.2_Missense_Mutation_p.A535D|CDC7_ENST00000234626.6_Missense_Mutation_p.A563D NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 563 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A563D(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GCAGAAGAAGCTTTGTTGCAT 0.328 14 263 --- --- --- --- ABCD3 5825 broad.mit.edu 37 1 94980700 94980700 + Splice_Site SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:94980700A>G ENST00000370214.4 + 22 1869 c.e22-1 ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site|ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TCTTTGTATTAGGTTGGCATC 0.328 3 245 --- --- --- --- LRIG2 9860 broad.mit.edu 37 1 113655223 113655223 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:113655223A>G ENST00000361127.5 + 14 2119 c.1921A>G c.(1921-1923)Act>Gct p.T641A LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 Ig-like C2-type 2. cytoplasm|integral to membrane|plasma membrane p.T641A(2) breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AGATGGTGGTACTGACTTTCC 0.493 5 201 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576525 158576525 + Silent SNP C C T rs146841755 TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:158576525C>T ENST00000361284.1 + 1 297 c.297C>T c.(295-297)gcC>gcT p.A99A NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A99A(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GCTGTGCTGCCCAGATGTTCT 0.542 107 396 --- --- --- --- TOR1AIP2 163590 broad.mit.edu 37 1 179833985 179833985 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:179833985G>T ENST00000553856.1 - 1 326 c.327C>A c.(325-327)aaC>aaA p.N109K TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000609928.1_Intron NM_022347.3 NP_071742.1 p.N109K(2) GTAATGCAGGGTTAAAACCAG 0.383 9 276 --- --- --- --- NR5A2 2494 broad.mit.edu 37 1 200089985 200089985 + Missense_Mutation SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:200089985T>C ENST00000367362.3 + 7 1526 c.1280T>C c.(1279-1281)cTc>cCc p.L427P NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P|NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 427 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CTCAACAACCTCATGAGTCAT 0.418 3 209 --- --- --- --- IRF6 3664 broad.mit.edu 37 1 209963071 209963071 + Missense_Mutation SNP A A C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:209963071A>C ENST00000367021.3 - 8 1292 c.1120T>G c.(1120-1122)Tgc>Ggc p.C374G IRF6_ENST00000542854.1_Missense_Mutation_p.C279G NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 374 C -> W (in VWS). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.C374G(1) cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TCCCCAAAGCATAAGTAGATC 0.443 HNSCC(57;0.16) 3 156 --- --- --- --- LBR 3930 broad.mit.edu 37 1 225607439 225607439 + Missense_Mutation SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr1:225607439T>C ENST00000338179.2 - 4 553 c.428A>G c.(427-429)gAc>gGc p.D143G LBR_ENST00000272163.4_Missense_Mutation_p.D143G NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 143 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity p.D143G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) ATGAGGTGCGTCATTTCTCTC 0.348 4 297 --- --- --- --- REG3G 130120 broad.mit.edu 37 2 79255008 79255008 + Missense_Mutation SNP C C G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr2:79255008C>G ENST00000272324.5 + 5 593 c.409C>G c.(409-411)Ccc>Gcc p.P137A REG3G_ENST00000393897.2_Missense_Mutation_p.P137A|REG3G_ENST00000409471.1_Missense_Mutation_p.P91A NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 137 C-type lectin. acute-phase response extracellular region sugar binding p.P137A(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGAGAAAAATCCCTCCACCAT 0.517 70 183 --- --- --- --- ZC3H6 376940 broad.mit.edu 37 2 113089935 113089935 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr2:113089935A>G ENST00000409871.1 + 12 3841 c.3440A>G c.(3439-3441)gAt>gGt p.D1147G ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 1147 nucleic acid binding|zinc ion binding p.D1147G(1) central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CAGTACAGTGATCCAAGGCAG 0.517 6 149 --- --- --- --- GYPC 2995 broad.mit.edu 37 2 127453705 127453705 + Missense_Mutation SNP A A T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr2:127453705A>T ENST00000259254.4 + 4 705 c.374A>T c.(373-375)gAg>gTg p.E125V GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V|GYPC_ENST00000464053.1_3'UTR NM_002101.4 NP_002092.1 P04921 GLPC_HUMAN glycophorin C (Gerbich blood group) 125 cortical cytoskeleton|integral to plasma membrane protein binding p.E125V(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) AGCAGAAAGGAGTACTTTATT 0.547 14 76 --- --- --- --- ACVR1C 130399 broad.mit.edu 37 2 158401075 158401075 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr2:158401075C>A ENST00000243349.8 - 5 1185 c.825G>T c.(823-825)caG>caT p.Q275H ACVR1C_ENST00000409680.3_Missense_Mutation_p.Q225H|ACVR1C_ENST00000335450.7_Missense_Mutation_p.Q195H|ACVR1C_ENST00000348328.5_Missense_Mutation_p.Q118H NM_001111032.1|NM_145259.2 NP_001104502.1|NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 ATAAGGAGCCCTGTTCATGAT 0.383 4 171 --- --- --- --- HOXD3 3232 broad.mit.edu 37 2 177034058 177034058 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr2:177034058C>T ENST00000468418.3 + 3 2306 c.216C>T c.(214-216)agC>agT p.S72S HOXD3_ENST00000410016.1_Silent_p.S72S|HOXD3_ENST00000249440.3_Silent_p.S72S P31249 HXD3_HUMAN homeobox D3 72 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S72S(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CCATCCAGAGCTCTGCCCCTC 0.652 36 101 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218750505 218750505 + Missense_Mutation SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr2:218750505T>C ENST00000171887.4 - 13 1155 c.703A>G c.(703-705)Acc>Gcc p.T235A TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 235 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding p.T235A(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGCTCGATGGTGATGCAGACG 0.532 6 145 --- --- --- --- KLHL2 11275 broad.mit.edu 37 4 166218818 166218818 + Missense_Mutation SNP A A C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr4:166218818A>C ENST00000226725.6 + 7 971 c.712A>C c.(712-714)Atg>Ctg p.M238L KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 238 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity p.M238L(2) endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) GCAAGAGTTTATGGCCCGACT 0.393 4 174 --- --- --- --- CDH12 1010 broad.mit.edu 37 5 21755850 21755850 + Nonsense_Mutation SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:21755850G>A ENST00000382254.1 - 14 2821 c.1735C>T c.(1735-1737)Cag>Tag p.Q579* CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579* NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 579 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Q579*(1) NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GTGCTGCTCTGGACAGGGTAG 0.468 HNSCC(59;0.17) 4 207 --- --- --- --- MTMR12 54545 broad.mit.edu 37 5 32274132 32274132 + Missense_Mutation SNP A A C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:32274132A>C ENST00000382142.3 - 3 409 c.239T>G c.(238-240)tTc>tGc p.F80C MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 80 cytoplasm phosphatase activity p.F80C(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGCAATCTTGAAGTCTGTGCA 0.483 12 310 --- --- --- --- SKIV2L2 23517 broad.mit.edu 37 5 54635836 54635836 + Splice_Site SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:54635836A>G ENST00000230640.5 + 6 769 c.e6-1 SKIV2L2_ENST00000545714.1_Splice_Site NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.?(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TCACATTTGTAGGTATGCCAT 0.303 25 120 --- --- --- --- ARSB 411 broad.mit.edu 37 5 78260259 78260259 + Missense_Mutation SNP T T G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:78260259T>G ENST00000264914.4 - 3 1206 c.670A>C c.(670-672)Act>Cct p.T224P ARSB_ENST00000396151.3_Missense_Mutation_p.T224P|ARSB_ENST00000565165.1_Missense_Mutation_p.T224P NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 224 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) GGATGGTTAGTTATGAGGGCT 0.363 3 191 --- --- --- --- SNCAIP 9627 broad.mit.edu 37 5 121786251 121786251 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:121786251G>T ENST00000261367.7 + 12 3278 c.1850G>T c.(1849-1851)aGa>aTa p.R617I SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I|CTC-210G5.1_ENST00000503529.1_RNA Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 570 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 p.R617I(1)|p.R570I(1) 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) CCTGCCTCCAGAAAGTCCCAG 0.458 11 348 --- --- --- --- MATR3 9782 broad.mit.edu 37 5 138643657 138643657 + Silent SNP A A C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:138643657A>C ENST00000394800.2 + 6 1102 c.553A>C c.(553-555)Aga>Cga p.R185R MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000361059.2_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000394805.3_Silent_p.R185R P43243 MATR3_HUMAN matrin 3 185 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding p.R185R(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAGGCACTTTAGAAGAGATAG 0.443 5 143 --- --- --- --- SH3TC2 79628 broad.mit.edu 37 5 148407223 148407223 + Missense_Mutation SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:148407223G>A ENST00000538184.1 - 7 1601 c.713C>T c.(712-714)gCc>gTc p.A238V SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 691 binding p.A576V(1)|p.A691V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGACAGAGGCCACTGCAAG 0.527 49 176 --- --- --- --- ATP10B 23120 broad.mit.edu 37 5 160042863 160042863 + Missense_Mutation SNP T T G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:160042863T>G ENST00000327245.5 - 17 3481 c.2635A>C c.(2635-2637)Aat>Cat p.N879H CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 879 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.N879H(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGAGTTGATTCTCCAGATGC 0.493 114 173 --- --- --- --- HIST1H2BH 8345 broad.mit.edu 37 6 26252136 26252136 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr6:26252136G>T ENST00000356350.2 + 1 258 c.258G>T c.(256-258)aaG>aaT p.K86N NM_003524.2 NP_003515.1 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 86 nucleosome assembly nucleosome|nucleus DNA binding p.K86N(1) NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 17 ATTACAACAAGCGTTCGACCA 0.607 15 167 --- --- --- --- BTN3A1 11119 broad.mit.edu 37 6 26407900 26407900 + Splice_Site SNP A A T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr6:26407900A>T ENST00000289361.6 + 4 803 c.435A>T c.(433-435)gcA>gcT p.A145A BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Splice_Site_p.A145A|BTN3A1_ENST00000476549.2_Splice_Site_p.A145A NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 145 Ig-like V-type 2. lipid metabolic process integral to membrane p.A145A(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CTTCCACAGCACTGGGTTCTG 0.473 4 111 --- --- --- --- ROS1 6098 broad.mit.edu 37 6 117663708 117663708 + Splice_Site SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr6:117663708C>A ENST00000368508.3 - 28 4723 c.e28-1 ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.?(3) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CCTGAAATTCCTGTAATTGAT 0.254 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 14 46 --- --- --- --- ABCB5 340273 broad.mit.edu 37 7 20685387 20685387 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr7:20685387C>T ENST00000404938.2 + 8 1339 c.687C>T c.(685-687)atC>atT p.I229I NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 415 regulation of membrane potential apical plasma membrane|Golgi 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 AGATGGTCATCTCATTGACCA 0.403 4 231 --- --- --- --- SUMF2 25870 broad.mit.edu 37 7 56142370 56142370 + Missense_Mutation SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr7:56142370G>A ENST00000434526.2 + 5 564 c.533G>A c.(532-534)cGg>cAg p.R178Q SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 159 endoplasmic reticulum lumen metal ion binding p.R159L(1)|p.R178L(1) breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGTGCTTGGCGGGGAAAACGA 0.587 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 226 --- --- --- --- SEMA3D 223117 broad.mit.edu 37 7 84694822 84694822 + Silent SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr7:84694822A>G ENST00000284136.6 - 6 679 c.636T>C c.(634-636)gaT>gaC p.D212D SEMA3D_ENST00000444867.1_Silent_p.D212D NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 212 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity p.D212D(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGAATGCAGTATCTTTGCCAA 0.423 6 95 --- --- --- --- PON2 5445 broad.mit.edu 37 7 95053856 95053856 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr7:95053856A>G ENST00000536183.1 - 2 362 c.179T>C c.(178-180)cTt>cCt p.L60P PON2_ENST00000433091.2_Missense_Mutation_p.L39P|PON2_ENST00000222572.3_Missense_Mutation_p.L39P NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 39 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding p.L39P(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) GCAGTGTGGAAGGTCTACAGA 0.333 16 183 --- --- --- --- PAXIP1 22976 broad.mit.edu 37 7 154754078 154754078 + Missense_Mutation SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr7:154754078G>A ENST00000404141.1 - 10 2234 c.2080C>T c.(2080-2082)Cac>Tac p.H694Y PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 694 BRCT 3.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix p.H660Y(1)|p.H694Y(1) NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) ACTGGGAAGTGAAGGGCTCGG 0.468 5 163 --- --- --- --- MPDZ 8777 broad.mit.edu 37 9 13224386 13224386 + Missense_Mutation SNP T T G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr9:13224386T>G ENST00000319217.7 - 4 627 c.380A>C c.(379-381)aAa>aCa p.K127T MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 127 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.K127T(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GGCCATATTTTTGATAAGCTG 0.338 53 207 --- --- --- --- MSMP 692094 broad.mit.edu 37 9 35753744 35753744 + Missense_Mutation SNP T T G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr9:35753744T>G ENST00000436428.2 - 2 291 c.152A>C c.(151-153)aAa>aCa p.K51T RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR NM_001044264.2 NP_001037729.1 Q1L6U9 MSMP_HUMAN microseminoprotein, prostate associated 51 extracellular region p.K51T(1) endometrium(2)|kidney(1)|lung(3)|prostate(3) 9 GGTAAAATATTTCCCCTCATA 0.537 9 60 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79938099 79938099 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr9:79938099A>G ENST00000360280.3 + 45 6207 c.5947A>G c.(5947-5949)Aca>Gca p.T1983A VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1983 Golgi to endosome transport|protein transport intracellular protein binding p.T1983A(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCAAATTGATACAGTAGAAGG 0.403 3 186 --- --- --- --- SNX30 401548 broad.mit.edu 37 9 115631068 115631068 + Missense_Mutation SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr9:115631068T>C ENST00000374232.3 + 9 1423 c.1259T>C c.(1258-1260)cTc>cCc p.L420P SNX30_ENST00000604751.1_Intron NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 420 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TTCCAGTGCCTCATGGCGTGG 0.493 3 195 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131023799 131023799 + Missense_Mutation SNP T T A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr9:131023799T>A ENST00000421699.2 - 15 1197 c.1185A>T c.(1183-1185)aaA>aaT p.K395N GOLGA2_ENST00000609374.1_Missense_Mutation_p.K383N NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 395 Golgi cisterna membrane protein binding p.K383N(1)|p.K395N(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 TCTCCGCATATTTATCTCTCT 0.517 9 217 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63851205 63851205 + Missense_Mutation SNP C C G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr10:63851205C>G ENST00000279873.7 + 10 2393 c.1983C>G c.(1981-1983)gaC>gaG p.D661E ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 661 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.D661E(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AAGACAAAGACCTGACTGGGC 0.537 3 59 --- --- --- --- MICU1 10367 broad.mit.edu 37 10 74135571 74135571 + Missense_Mutation SNP C C G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr10:74135571C>G ENST00000398761.4 - 13 1378 c.1246G>C c.(1246-1248)Gat>Cat p.D416H MICU1_ENST00000361114.5_Missense_Mutation_p.D414H|MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 414 EF-hand 2. calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.D414H(1)|p.D416H(1) AACACCACATCACACACGTGG 0.537 6 22 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89692871 89692871 + Missense_Mutation SNP G G T rs139767111 TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr10:89692871G>T ENST00000371953.3 + 5 1712 c.355G>T c.(355-357)Gtt>Ttt p.V119F NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 119 Phosphatase tensin-type. V -> L (in multiple cancers). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGACAATCATGTTGCAGCAAT 0.403 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 58 83 --- --- --- --- CCDC147 159686 broad.mit.edu 37 10 106125599 106125599 + Missense_Mutation SNP A A C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr10:106125599A>C ENST00000369704.3 + 5 759 c.625A>C c.(625-627)Aac>Cac p.N209H CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 209 p.N209H(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GCAACGTCAGAACGAAGCTTC 0.512 4 86 --- --- --- --- OR5T1 390155 broad.mit.edu 37 11 56043918 56043918 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr11:56043918C>T ENST00000313033.2 + 1 890 c.804C>T c.(802-804)ctC>ctT p.L268L NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L268L(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGACAATCCTCTTCATGTATG 0.428 165 329 --- --- --- --- VWCE 220001 broad.mit.edu 37 11 61034970 61034970 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr11:61034970C>T ENST00000335613.5 - 16 2315 c.1929G>A c.(1927-1929)ccG>ccA p.P643P VWCE_ENST00000535710.1_Silent_p.P108P NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 643 VWFC 5. extracellular region calcium ion binding p.P643P(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CCAGCACAGACGGGAAGGTCT 0.597 40 83 --- --- --- --- FERMT3 83706 broad.mit.edu 37 11 63978262 63978262 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr11:63978262G>T ENST00000279227.5 + 3 435 c.340G>T c.(340-342)Gcc>Tcc p.A114S FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 114 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding p.A114S(2) breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GCGCCTCCGTGCCAGCTTCTC 0.667 6 192 --- --- --- --- TIGD3 220359 broad.mit.edu 37 11 65123663 65123663 + Silent SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr11:65123663A>G ENST00000309880.5 + 2 591 c.384A>G c.(382-384)aaA>aaG p.K128K NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 128 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding p.K128K(1) endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TCCGCTGGAAACGCCGAAACA 0.657 7 62 --- --- --- --- DPP3 10072 broad.mit.edu 37 11 66259193 66259193 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr11:66259193C>T ENST00000532677.1 + 9 1412 c.1011C>T c.(1009-1011)taC>taT p.Y337Y DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000453114.1_Silent_p.Y318Y NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 318 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity p.Y318Y(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCGAGAGCTACCGCGACCCCT 0.612 6 390 --- --- --- --- KIF5A 3798 broad.mit.edu 37 12 57962799 57962799 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr12:57962799C>T ENST00000455537.2 + 9 1042 c.768C>T c.(766-768)aaC>aaT p.N256N KIF5A_ENST00000286452.5_Silent_p.N167N NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 256 Kinesin-motor.|Microtubule-binding. Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover). blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.N256N(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGAATATCAACAAGTCACTGT 0.557 16 97 --- --- --- --- HELB 92797 broad.mit.edu 37 12 66696411 66696411 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr12:66696411C>A ENST00000247815.4 + 1 87 c.28C>A c.(28-30)Caa>Aaa p.Q10K NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 10 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity p.Q10K(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GTACCTGCGCCAACTTCAGGG 0.557 6 116 --- --- --- --- GZMH 2999 broad.mit.edu 37 14 25076555 25076555 + Missense_Mutation SNP T T G rs144759599 TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr14:25076555T>G ENST00000216338.4 - 4 441 c.397A>C c.(397-399)Aag>Cag p.K133Q GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA NM_033423.4 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 133 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity p.K133Q(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) ACCTGGGCCTTGCTGCTAGGT 0.572 7 116 --- --- --- --- OTX2 5015 broad.mit.edu 37 14 57268617 57268617 + Missense_Mutation SNP C C G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr14:57268617C>G ENST00000339475.5 - 5 1006 c.730G>C c.(730-732)Gct>Cct p.A244P OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P|OTX2_ENST00000555006.1_Missense_Mutation_p.A236P NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 236 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding p.A244P(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) GAAAGAGAAGCTGGGGACTGA 0.502 66 128 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 94060090 94060090 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr14:94060090C>A ENST00000553484.1 + 23 3251 c.3097C>A c.(3097-3099)Cat>Aat p.H1033N UNC79_ENST00000256339.4_Missense_Mutation_p.H856N|UNC79_ENST00000555664.1_Missense_Mutation_p.H1033N|UNC79_ENST00000393151.2_Missense_Mutation_p.H1033N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1033 integral to membrane p.H856N(1)|p.H1033N(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCTTCTCCTCCATGCCCTGTC 0.493 5 279 --- --- --- --- TYRO3 7301 broad.mit.edu 37 15 41865931 41865931 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr15:41865931G>T ENST00000263798.3 + 18 2424 c.2200G>T c.(2200-2202)Gct>Tct p.A734S TYRO3_ENST00000559066.1_Missense_Mutation_p.A689S NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 734 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACGCCATATGCTGGCATCGA 0.562 4 189 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 62978869 62978869 + Silent SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr15:62978869G>T ENST00000561311.1 + 11 1217 c.987G>T c.(985-987)gtG>gtT p.V329V RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V Q9Y4G6 TLN2_HUMAN talin 2 329 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.V329V(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ACAAGCTGGTGCCTCGCCTGC 0.537 12 31 --- --- --- --- LRRK1 79705 broad.mit.edu 37 15 101593153 101593153 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr15:101593153A>G ENST00000284395.5 + 26 4107 c.3707A>G c.(3706-3708)gAg>gGg p.E1236G RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1239 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.E1239G(1)|p.E1251G(1) breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCAAGCTGGAGCACAGCGAG 0.692 3 60 --- --- --- --- SLX4 84464 broad.mit.edu 37 16 3640681 3640681 + Silent SNP G G A rs148111699 TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr16:3640681G>A ENST00000294008.3 - 12 3598 c.2958C>T c.(2956-2958)ctC>ctT p.L986L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 986 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding p.L986L(1) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TTGATGAGAAGAGCTGTTCGT 0.557 Direct reversal of damage 7 180 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18866183 18866183 + Silent SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr16:18866183T>C ENST00000446231.2 - 30 4690 c.4278A>G c.(4276-4278)ctA>ctG p.L1426L SMG1_ENST00000389467.3_Silent_p.L1426L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1426 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTGCTGCTGTTAGACCTAATT 0.438 6 257 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370791 20370791 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr16:20370791C>T ENST00000302451.4 - 12 1853 c.1605G>A c.(1603-1605)tcG>tcA p.S535S NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 535 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.S535S(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 CCAGCTCAGGCGACTGCTGTT 0.502 12 468 --- --- --- --- GNAO1 2775 broad.mit.edu 37 16 56362633 56362633 + Missense_Mutation SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr16:56362633T>C ENST00000262494.7 + 4 654 c.394T>C c.(394-396)Tgg>Cgg p.W132R GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 132 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity p.W132R(3) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) GATGCGGCTCTGGGGCGACTC 0.587 16 91 --- --- --- --- KCNH4 23415 broad.mit.edu 37 17 40328219 40328219 + Missense_Mutation SNP T T G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr17:40328219T>G ENST00000264661.3 - 5 1014 c.682A>C c.(682-684)Atc>Ctc p.I228L KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 228 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) CCGTCCCAGATGGCCTTGGAG 0.592 3 230 --- --- --- --- KIF2B 84643 broad.mit.edu 37 17 51900688 51900688 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr17:51900688G>T ENST00000268919.4 + 1 450 c.294G>T c.(292-294)ttG>ttT p.L98F NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 98 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.L98F(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TATCCCCCTTGGCTCTGGCGC 0.587 6 260 --- --- --- --- TRIM25 7706 broad.mit.edu 37 17 54969322 54969322 + Silent SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr17:54969322G>A ENST00000316881.4 - 9 1681 c.1632C>T c.(1630-1632)cgC>cgT p.R544R TRIM25_ENST00000537230.1_Silent_p.R544R NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 544 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding p.R544R(2) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) AGGCGCTGTTGCGGCCGAGCC 0.602 37 94 --- --- --- --- FSCN2 25794 broad.mit.edu 37 17 79496338 79496338 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr17:79496338G>T ENST00000417245.2 + 1 917 c.781G>T c.(781-783)Gtg>Ttg p.V261L FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L NM_001077182.2|NM_012418.3 NP_001070650.1|NP_036550.1 O14926 FSCN2_HUMAN fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 261 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging p.V261L(2) endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TCACCCACAGGTGGTGCTGGT 0.662 4 7 --- --- --- --- CXADRP3 440224 broad.mit.edu 37 18 14479261 14479261 + RNA SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr18:14479261C>T ENST00000581457.1 - 0 647 NR_024076.1 GCAGCAGGAGCGCCATGGTGG 0.597 4 17 --- --- --- --- PSMA8 143471 broad.mit.edu 37 18 23759096 23759096 + Splice_Site SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr18:23759096T>C ENST00000308268.6 + 6 767 c.e6+2 PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) CCTTTGAAGGTAAGTCATTAA 0.313 3 172 --- --- --- --- UNC13A 23025 broad.mit.edu 37 19 17780382 17780382 + Missense_Mutation SNP G G A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:17780382G>A ENST00000428389.2 - 6 637 c.638C>T c.(637-639)aCg>aTg p.T213M UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 125 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.T213M(2)|p.T125M(2) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CTCAAAGCGCGTGTCCAGGAG 0.612 3 64 --- --- --- --- ZNF676 163223 broad.mit.edu 37 19 22364321 22364321 + Missense_Mutation SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:22364321C>T ENST00000397121.2 - 3 515 c.198G>A c.(196-198)atG>atA p.M66I NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.M66I(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCTCAATATCATTTTTTGGA 0.303 5 148 --- --- --- --- ZNF98 148198 broad.mit.edu 37 19 22585674 22585674 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:22585674G>T ENST00000357774.5 - 3 291 c.170C>A c.(169-171)tCt>tAt p.S57Y ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S57Y(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTCTGGCTTAGAGGCAGCAAT 0.393 34 130 --- --- --- --- ZNF492 57615 broad.mit.edu 37 19 22836734 22836734 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:22836734C>A ENST00000456783.2 + 3 291 c.47C>A c.(46-48)tCt>tAt p.S16Y NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S16Y(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATTGCTGCCTCTAAGCCAGAC 0.398 14 151 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 31039026 31039026 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:31039026A>G ENST00000355537.3 + 4 2647 c.2500A>G c.(2500-2502)Agg>Ggg p.R834G NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 834 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R834G(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCTGTTCATCAGGCCAGACAT 0.587 5 225 --- --- --- --- GPI 2821 broad.mit.edu 37 19 34887247 34887247 + Silent SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:34887247A>G ENST00000415930.3 + 13 1307 c.1137A>G c.(1135-1137)ggA>ggG p.G379G GPI_ENST00000356487.5_Silent_p.G368G|GPI_ENST00000586425.1_Silent_p.G368G NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 368 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCAAATCTGGAACCCGTGTGG 0.502 4 209 --- --- --- --- SUPT5H 6829 broad.mit.edu 37 19 39959750 39959750 + Missense_Mutation SNP A A G TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:39959750A>G ENST00000599117.1 + 16 1542 c.1175A>G c.(1174-1176)gAg>gGg p.E392G SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 392 Interaction with RNA polymerase II. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity p.E392G(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACACTCTCTGAGCTGGAAAAG 0.567 17 115 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41009977 41009977 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:41009977C>A ENST00000352632.3 + 12 1689 c.1603C>A c.(1603-1605)Ctt>Att p.L535I SPTBN4_ENST00000595535.1_Missense_Mutation_p.L535I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L535I Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 535 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.L535I(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAGCAGAACCTTGCCCTGCA 0.667 4 121 --- --- --- --- PSG8 440533 broad.mit.edu 37 19 43259290 43259290 + Missense_Mutation SNP G G T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:43259290G>T ENST00000404209.4 - 4 934 c.838C>A c.(838-840)Ctc>Atc p.L280I PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I|PSG8_ENST00000306511.4_Missense_Mutation_p.L280I NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 280 Ig-like C2-type 2. extracellular region p.L280I(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CTGACCGGGAGGCTCTGACCA 0.448 95 584 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47589711 47589711 + Missense_Mutation SNP C C T rs653615 TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:47589711C>T ENST00000253048.5 - 6 837 c.800G>A c.(799-801)gGc>gAc p.G267D ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 267 Gly-rich. nucleic acid binding|zinc ion binding p.G267D(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCTGCCCCTGCCTCGGCTGCC 0.667 4 81 --- --- --- --- LILRA5 353514 broad.mit.edu 37 19 54823141 54823141 + Silent SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr19:54823141C>A ENST00000301219.3 - 4 521 c.402G>T c.(400-402)gtG>gtT p.V134V LILRA5_ENST00000446712.3_Silent_p.V122V|LILRA5_ENST00000432233.3_Silent_p.V134V|LILRA5_ENST00000346508.3_Silent_p.V122V|AC008984.2_ENST00000507363.1_RNA NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 134 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CACCTGTCACCACCAGCTCCA 0.632 4 176 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47845307 47845307 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr20:47845307C>T ENST00000371764.4 + 8 864 c.855C>T c.(853-855)cgC>cgT p.R285R DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 285 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R285R(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATAAACCCCGCCAGGCTCCAG 0.572 109 226 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099193 56099193 + Silent SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr20:56099193C>T ENST00000608263.1 - 1 730 c.69G>A c.(67-69)ccG>ccA p.P23P CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.3_Silent_p.P23P|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.P23P|CTCFL_ENST00000608425.1_Silent_p.P23P|CTCFL_ENST00000609232.1_Silent_p.P23P|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608158.1_Silent_p.P23P|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000481655.2_Silent_p.P23P|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000608440.1_Silent_p.P23P NM_001269041.1 NP_001255970.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.P23P(1) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GGCCTTTTTCCGGCATCAACT 0.507 241 498 --- --- --- --- DYRK1A 1859 broad.mit.edu 37 21 38884778 38884778 + Missense_Mutation SNP G G C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr21:38884778G>C ENST00000339659.4 + 11 3679 c.2209G>C c.(2209-2211)Gaa>Caa p.E737Q DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E746Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity p.E746Q(1) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGCTGATAGAGAAGAGTCCCC 0.438 7 178 --- --- --- --- RFPL1 5988 broad.mit.edu 37 22 29837851 29837851 + Missense_Mutation SNP C C T TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr22:29837851C>T ENST00000354373.2 + 2 903 c.694C>T c.(694-696)Ccg>Tcg p.P232S RFPL1S_ENST00000461286.3_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 232 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CAGCACGGTGCCGCTGACTTT 0.522 4 163 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50716066 50716066 + Missense_Mutation SNP T T C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr22:50716066T>C ENST00000449103.1 - 33 5290 c.5150A>G c.(5149-5151)cAg>cGg p.Q1717R PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R O15031 PLXB2_HUMAN plexin B2 1717 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity p.Q1760R(1) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATGAAGGTCTGCGCGATGAC 0.627 3 119 --- --- --- --- TSPAN7 7102 broad.mit.edu 37 X 38540490 38540490 + Missense_Mutation SNP G G C TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chrX:38540490G>C ENST00000378482.2 + 6 807 c.630G>C c.(628-630)gaG>gaC p.E210D TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 210 interspecies interaction between organisms integral to plasma membrane p.E210D(2)|p.E205D(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 GTTTCATGGAGACTAACATGG 0.478 59 105 --- --- --- --- ABCB7 22 broad.mit.edu 37 X 74318818 74318818 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chrX:74318818C>A ENST00000253577.3 - 4 439 c.415G>T c.(415-417)Gct>Tct p.A139S ABCB7_ENST00000373394.3_Missense_Mutation_p.A138S|ABCB7_ENST00000339447.4_Intron NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 138 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity p.A139S(1) breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 GCAACTCTAGCTCGTAGATCT 0.363 55 70 --- --- --- --- PDZRN3 23024 broad.mit.edu 37 3 73437147 73437148 + Frame_Shift_Ins INS - - A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr3:73437147_73437148insA ENST00000263666.4 - 8 1603_1604 c.1489_1490insT c.(1489-1491)tcafs p.S497fs PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.S154fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.S154fs|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.S214fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.S219fs NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 497 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AATCAGCAATGAAAAGTTTTTA 0.421 265 502 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150886733 150886733 + Frame_Shift_Del DEL A A - TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr5:150886733delA ENST00000261800.5 - 22 12511 c.12499delT c.(12499-12501)tggfs p.W4167fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4167 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) TCGCTGGACCAGGTTCTCTTA 0.557 57 163 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24621084 24621085 + Frame_Shift_Del DEL GA GA - TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr14:24621084_24621085delGA ENST00000558468.1 + 3 438_439 c.438_439delGA c.(436-441)aggaacfs p.N147fs RNF31_ENST00000559275.1_Frame_Shift_Del_p.N521fs|RNF31_ENST00000324103.6_Frame_Shift_Del_p.N672fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.N521fs AGACACCCAGGAACTATGAGTT 0.634 29 213 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061220 38061225 + In_Frame_Del DEL CGTTCT CGTTCT - TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr14:38061220_38061225delCGTTCT ENST00000250448.2 - 2 825_830 c.764_769delAGAACG c.(763-771)gagaacggc>ggc p.EN255del FOXA1_ENST00000540786.1_In_Frame_Del_p.EN222del|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 255 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AAGTAGCAGCCGTTCTCGAACATGTT 0.694 12 24 --- --- --- --- OSER1 51526 broad.mit.edu 37 20 42831694 42831697 + Frame_Shift_Del DEL ACAG ACAG - TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 993b5404-5434-45a7-8e8b-e099c11884bd ba42b097-f2e5-46f4-b7fe-1209b3d5af9b g.chr20:42831694_42831697delACAG ENST00000372970.2 - 5 275_278 c.95_98delCTGT c.(94-99)tctgttfs p.SV32fs OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs oxidative stress responsive serine-rich 1 GCCTTCTCCAACAGACAGAGATGC 0.417 35 72 --- --- --- ---