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 AGRN 375790 broad.mit.edu 37 1 970664 970664 + Silent SNP C C A rs148157593 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:970664C>A ENST00000379370.2 + 3 521 c.471C>A c.(469-471)ccC>ccA p.P157P AGRN_ENST00000477585.1_3'UTR NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 157 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.P157P(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CAGATAAACCCGGGACCCACT 0.617 6 209 --- --- --- --- CDK11A 728642 broad.mit.edu 37 1 1650857 1650857 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:1650857G>T ENST00000356200.3 - 3 397 c.163C>A c.(163-165)Cag>Aag p.Q55K CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q89K|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K|RP1-283E3.8_ENST00000598846.1_RNA cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 GACATTTGCTGGGGTGGTTTG 0.418 8 392 --- --- --- --- WRAP73 49856 broad.mit.edu 37 1 3548782 3548782 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:3548782C>A ENST00000378322.3 - 10 1101 c.1043G>T c.(1042-1044)aGg>aTg p.R348M WRAP73_ENST00000270708.7_Missense_Mutation_p.R348M Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 348 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 CTGACCGTTCCTTGTCGCCAG 0.512 6 131 --- --- --- --- CCDC27 148870 broad.mit.edu 37 1 3670749 3670749 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:3670749C>A ENST00000294600.2 + 2 470 c.386C>A c.(385-387)cCc>cAc p.P129H NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 129 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AGGGTCTTCCCCACGCATCCT 0.587 8 171 --- --- --- --- ZBTB48 3104 broad.mit.edu 37 1 6648255 6648255 + Splice_Site SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:6648255A>T ENST00000377674.4 + 8 1673 c.1515A>T c.(1513-1515)caA>caT p.Q505H NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 505 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) TCCGAACCCAAGGTGAGGTAC 0.622 19 34 --- --- --- --- KIF1B 23095 broad.mit.edu 37 1 10421013 10421013 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:10421013G>T ENST00000377086.1 + 39 4284 c.4082G>T c.(4081-4083)tGg>tTg p.W1361L KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L O60333 KIF1B_HUMAN kinesin family member 1B 1361 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GAGGCTGTGTGGGATAGCTCT 0.483 6 132 --- --- --- --- EXOSC10 5394 broad.mit.edu 37 1 11159800 11159800 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:11159800G>T ENST00000544779.1 - 1 94 c.89C>A c.(88-90)cCg>cAg p.P30Q RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000435388.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q Q01780 EXOSX_HUMAN exosome component 10 30 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GTCGGCGTCCGGGAAGCCTGG 0.677 4 52 --- --- --- --- PRDM2 7799 broad.mit.edu 37 1 14107222 14107222 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:14107222C>A ENST00000235372.7 + 8 3788 c.2932C>A c.(2932-2934)Ccg>Acg p.P978T PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 978 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACCCTGTCCCCCGGTATTAAC 0.607 6 133 --- --- --- --- ARHGEF19 128272 broad.mit.edu 37 1 16534231 16534231 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:16534231C>A ENST00000270747.3 - 4 872 c.736G>T c.(736-738)Ggg>Tgg p.G246W NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 246 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) ACCCGGTCCCCGCTCATCTCT 0.667 4 76 --- --- --- --- ARHGEF10L 55160 broad.mit.edu 37 1 18023820 18023820 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:18023820C>A ENST00000361221.3 + 29 3944 c.3785C>A c.(3784-3786)cCg>cAg p.P1262Q ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1262 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 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) AGGCAGGCCCCGTGTGGGGAG 0.657 5 98 --- --- --- --- UBR4 23352 broad.mit.edu 37 1 19436655 19436655 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:19436655G>T ENST00000375267.2 - 81 12043 c.12040C>A c.(12040-12042)Ctc>Atc p.L4014I UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375254.3_Missense_Mutation_p.L4014I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4014 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGGCACATGAGGGTAATGTTT 0.498 5 96 --- --- --- --- MAP3K6 9064 broad.mit.edu 37 1 27690833 27690833 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:27690833C>A ENST00000374040.3 - 3 793 c.533G>T c.(532-534)cGg>cTg p.R178L MAP3K6_ENST00000493901.1_Missense_Mutation_p.R186L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 186 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACACAGCACCCGACCAGTGGC 0.652 4 89 --- --- --- --- SMPDL3B 27293 broad.mit.edu 37 1 28285189 28285189 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:28285189G>T ENST00000373894.3 + 8 1399 c.1208G>T c.(1207-1209)gGg>gTg p.G403V SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|RP11-460I13.2_ENST00000448015.1_RNA NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 403 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) TACTCTGCTGGGGTCTGCGAC 0.617 7 121 --- --- --- --- KIAA0319L 79932 broad.mit.edu 37 1 35916055 35916055 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:35916055G>T ENST00000325722.3 - 14 2352 c.2118C>A c.(2116-2118)ccC>ccA p.P706P KIAA0319L_ENST00000373266.4_Silent_p.P143P|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 706 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGTGCTCGTGGGTAGGGTAA 0.458 5 104 --- --- --- --- GRIK3 2899 broad.mit.edu 37 1 37499693 37499693 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:37499693C>A ENST00000373091.3 - 1 33 c.17G>T c.(16-18)cGg>cTg p.R6L GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 6 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCGGAGGCGCCGCCAGGGAGC 0.751 3 16 --- --- --- --- ZFP69B 65243 broad.mit.edu 37 1 40928286 40928286 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:40928286C>A ENST00000411995.2 + 6 1005 c.630C>A c.(628-630)ccC>ccA p.P210P ZFP69B_ENST00000361584.3_Silent_p.P108P|ZFP69B_ENST00000484445.1_3'UTR NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B GGCAAATCCCCCTGATGTGCA 0.413 6 148 --- --- --- --- SZT2 23334 broad.mit.edu 37 1 43902871 43902871 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:43902871C>A ENST00000562955.1 + 42 5893 c.5893C>A c.(5893-5895)Cgt>Agt p.R1965S SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2022 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTGTGCGCCCCGTGGGTACCT 0.572 7 120 --- --- --- --- DMAP1 55929 broad.mit.edu 37 1 44680396 44680396 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:44680396C>A ENST00000372289.2 + 3 482 c.219C>A c.(217-219)ccC>ccA p.P73P DMAP1_ENST00000315913.5_Silent_p.P73P|DMAP1_ENST00000361745.6_Silent_p.P73P NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 73 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) CACTGCTACCCAGTGACACTG 0.567 5 65 --- --- --- --- TMEM69 51249 broad.mit.edu 37 1 46159036 46159036 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:46159036C>A ENST00000372025.4 + 3 1360 c.203C>A c.(202-204)cCc>cAc p.P68H TMEM69_ENST00000496366.1_3'UTR NM_016486.3 NP_057570.2 Q5SWH9 TMM69_HUMAN transmembrane protein 69 68 integral to membrane kidney(3)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) CATACATCCCCCTGCAGCTTT 0.468 10 407 --- --- --- --- FAAH 2166 broad.mit.edu 37 1 46874198 46874198 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:46874198C>A ENST00000243167.8 + 8 1103 c.1019C>A c.(1018-1020)cCg>cAg p.P340Q FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 340 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) ATGCCCTCCCCGGCCATGAGG 0.617 8 298 --- --- --- --- CYP4X1 260293 broad.mit.edu 37 1 47514236 47514236 + Splice_Site SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:47514236G>T ENST00000371901.3 + 10 1457 c.e10-1 CYP4X1_ENST00000538609.1_Splice_Site NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCCTTTCTTAGGGATCACCGT 0.428 8 334 --- --- --- --- ELAVL4 1996 broad.mit.edu 37 1 50642827 50642827 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:50642827C>T ENST00000371824.1 + 3 574 c.317C>T c.(316-318)aCt>aTt p.T106I ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 106 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GCCATCAACACTTTAAATGGA 0.398 22 47 --- --- --- --- LRP8 7804 broad.mit.edu 37 1 53716447 53716447 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:53716447G>T ENST00000306052.6 - 17 2692 c.2591C>A c.(2590-2592)cCa>cAa p.P864Q LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q|LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 864 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CCTGTAGACTGGGTTGTCAAA 0.463 5 80 --- --- --- --- CACHD1 57685 broad.mit.edu 37 1 65138882 65138882 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:65138882C>A ENST00000371073.2 + 18 2552 c.2552C>A c.(2551-2553)cCg>cAg p.P851Q CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 851 Cache 2. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GTGGCGCACCCGACTCTCATC 0.483 5 207 --- --- --- --- WDR78 79819 broad.mit.edu 37 1 67313297 67313297 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:67313297C>A ENST00000371026.3 - 8 1216 c.1161G>T c.(1159-1161)gaG>gaT p.E387D WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 387 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 AGTGGTCTTCCTCATCTTCAT 0.308 5 68 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575235 74575235 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:74575235G>T ENST00000354431.4 - 5 901 c.710C>A c.(709-711)cCt>cAt p.P237H LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P237H NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 237 IQ. NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GAAAAACACAGGGCTGAATAT 0.318 6 107 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77510163 77510163 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:77510163G>T ENST00000477717.1 + 3 771 c.536G>T c.(535-537)cGg>cTg p.R179L NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 179 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 TACATGCGGCGGGACGGCAAG 0.602 5 114 --- --- --- --- SYDE2 84144 broad.mit.edu 37 1 85655748 85655748 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:85655748G>T ENST00000341460.5 - 2 1482 c.1433C>A c.(1432-1434)cCt>cAt p.P478H NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 478 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) ACCTGCAAAAGGAGATTTCAA 0.343 6 169 --- --- --- --- WDR47 22911 broad.mit.edu 37 1 109538407 109538407 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:109538407C>A ENST00000357672.3 - 7 1777 c.1402G>T c.(1402-1404)Gag>Tag p.E468* WDR47_ENST00000369962.3_Nonsense_Mutation_p.E496*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504* O94967 WDR47_HUMAN WD repeat domain 47 496 Gln-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) GCTGATACCTCATTACCAAGG 0.353 6 194 --- --- --- --- CYB561D1 284613 broad.mit.edu 37 1 110037802 110037802 + Splice_Site SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:110037802G>T ENST00000430195.2 + 3 315 c.290G>T c.(289-291)cGg>cTg p.R97L CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000420578.2_Splice_Site_p.A62A Q8N8Q1 C56D1_HUMAN cytochrome b561 family, member D1 0 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding breast(1)|large_intestine(3)|prostate(1) 5 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TGGCCTTGGCGGTGAGTTTAG 0.493 7 291 --- --- --- --- OLFML3 56944 broad.mit.edu 37 1 114524121 114524121 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:114524121C>A ENST00000369551.1 + 4 1179 c.891C>A c.(889-891)ccC>ccA p.P297P OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Silent_p.P317P|OLFML3_ENST00000393300.2_Silent_p.P297P Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 317 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CACCATGTCCCAGAGAGAATG 0.572 5 72 --- --- --- --- LOC645166 645166 broad.mit.edu 37 1 148932875 148932875 + RNA SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:148932875G>T ENST00000539543.1 + 0 131 NR_027355.2 GGTGGGAGACGGGTGAGGTAC 0.632 6 155 --- --- --- --- BNIPL 149428 broad.mit.edu 37 1 151011338 151011338 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:151011338C>A ENST00000295294.7 + 4 632 c.23C>A c.(22-24)cCa>cAa p.P8Q BNIPL_ENST00000368931.3_Missense_Mutation_p.P90Q NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 90 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTTCTGCCCCAGAGTTGCGG 0.577 5 62 --- --- --- --- PIP5K1A 8394 broad.mit.edu 37 1 151204728 151204728 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:151204728G>T ENST00000409426.1 + 5 782 c.337G>T c.(337-339)Ggg>Tgg p.G113W PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.G125W|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 125 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) CCACAGTGAAGGGAGCAACCT 0.522 6 151 --- --- --- --- ZNF687 57592 broad.mit.edu 37 1 151262651 151262651 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:151262651C>A ENST00000368879.2 + 7 3116 c.3018C>A c.(3016-3018)ccC>ccA p.P1006P NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 1006 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTCCGCCCCCAGCCTGAGGC 0.602 6 119 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152279709 152279709 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:152279709C>A ENST00000368799.1 - 3 7688 c.7653G>T c.(7651-7653)caG>caT p.Q2551H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2551 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGATTGTCCCTGGCCCACCT 0.587 Ichthyosis 8 324 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152281407 152281407 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:152281407G>T ENST00000368799.1 - 3 5990 c.5955C>A c.(5953-5955)tcC>tcA p.S1985S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1985 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCACGAGAGGAAGACTCTG 0.577 Ichthyosis 11 647 --- --- --- --- CRNN 49860 broad.mit.edu 37 1 152382841 152382841 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:152382841G>T ENST00000271835.3 - 3 779 c.717C>A c.(715-717)acC>acA p.T239T RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 239 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCACAGTCTGGGTGGCACCTG 0.597 9 321 --- --- --- --- PGLYRP4 57115 broad.mit.edu 37 1 153318593 153318593 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:153318593G>T ENST00000368739.3 - 3 482 c.124C>A c.(124-126)Cag>Aag p.Q42K PGLYRP4_ENST00000359650.5_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 42 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCAGTGAGCTGGGAGATGTTC 0.453 8 283 --- --- --- --- INTS3 65123 broad.mit.edu 37 1 153735803 153735803 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:153735803C>A ENST00000456435.1 + 16 2299 c.1113C>A c.(1111-1113)tcC>tcA p.S371S INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000318967.2_Silent_p.S577S Q68E01 INT3_HUMAN integrator complex subunit 3 578 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGATGAGTCCCTGAGGGACA 0.512 6 139 --- --- --- --- NES 10763 broad.mit.edu 37 1 156640356 156640356 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:156640356C>A ENST00000368223.3 - 4 3756 c.3624G>T c.(3622-3624)gaG>gaT p.E1208D NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1208 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTCAGCTTCCTCTGACCCCA 0.647 6 134 --- --- --- --- INSRR 3645 broad.mit.edu 37 1 156811571 156811571 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:156811571C>A ENST00000368195.3 - 20 3809 c.3413G>T c.(3412-3414)cGg>cTg p.R1138L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1138 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATACACGTCCCGAGTCATCCC 0.602 6 154 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158639501 158639501 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:158639501C>A ENST00000368147.4 - 13 1855 c.1675G>T c.(1675-1677)Ggg>Tgg p.G559W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G559W(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGACATACCCCGTCACGGATA 0.433 7 259 --- --- --- --- OR6K3 391114 broad.mit.edu 37 1 158687669 158687669 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:158687669G>T ENST00000368146.1 - 1 284 c.285C>A c.(283-285)ccC>ccA p.P95P OR6K3_ENST00000368145.1_Silent_p.P79P Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AGAGCATCTTGGGAATGGTGG 0.453 8 259 --- --- --- --- PEX19 5824 broad.mit.edu 37 1 160254884 160254884 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:160254884C>A ENST00000368072.5 - 1 52 c.31G>T c.(31-33)Ggg>Tgg p.G11W PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTTCGGCCCCGACACTACAG 0.632 5 112 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162313729 162313729 + Silent SNP A A G TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:162313729A>G ENST00000361897.5 + 6 960 c.558A>G c.(556-558)ggA>ggG p.G186G NOS1AP_ENST00000530878.1_Silent_p.G181G NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 186 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGGAAGATGGAGAGAGCGAGA 0.587 3 66 --- --- --- --- RCSD1 92241 broad.mit.edu 37 1 167663439 167663439 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:167663439C>A ENST00000367854.3 + 5 705 c.374C>A c.(373-375)cCc>cAc p.P125H RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 125 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CCTTCTACCCCCAGCAGCCCT 0.587 6 74 --- --- --- --- LAMC1 3915 broad.mit.edu 37 1 183072514 183072514 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:183072514C>A ENST00000258341.4 + 2 727 c.470C>A c.(469-471)cCg>cAg p.P157Q NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 157 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCAGCCGCCCGGAGAGCTTT 0.493 5 213 --- --- --- --- LAMC2 3918 broad.mit.edu 37 1 183177030 183177030 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:183177030G>T ENST00000264144.4 + 2 159 c.94G>T c.(94-96)Ggg>Tgg p.G32W LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 32 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TGATTGCAATGGGAAGTCCAG 0.423 6 181 --- --- --- --- RGL1 23179 broad.mit.edu 37 1 183881372 183881372 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:183881372C>A ENST00000304685.4 + 16 2273 c.1824C>A c.(1822-1824)ccC>ccA p.P608P RGL1_ENST00000539189.1_Silent_p.P544P|RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000360851.3_Silent_p.P573P NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CCATTACTCCCATGGACACCC 0.527 5 43 --- --- --- --- PTGS2 5743 broad.mit.edu 37 1 186646027 186646027 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:186646027C>A ENST00000367468.5 - 6 797 c.661G>T c.(661-663)Ggt>Tgt p.G221C PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 221 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) AGAGTTTCACCGTAAATATGA 0.313 5 212 --- --- --- --- ASPM 259266 broad.mit.edu 37 1 197094066 197094066 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:197094066C>A ENST00000367409.4 - 12 3358 c.3102G>T c.(3100-3102)aaG>aaT p.K1034N ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1034 CH 1. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCACAATATCCTTAGATAGAA 0.323 6 144 --- --- --- --- DDX59 83479 broad.mit.edu 37 1 200613506 200613506 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:200613506G>T ENST00000331314.6 - 8 1949 c.1736C>A c.(1735-1737)cCa>cAa p.P579Q DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron NM_001031725.4 NP_001026895.2 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 579 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 ATGAAGGTATGGGGAATTTAA 0.358 7 185 --- --- --- --- PPP1R15B 84919 broad.mit.edu 37 1 204378927 204378927 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:204378927C>A ENST00000367188.4 - 1 1992 c.1613G>T c.(1612-1614)gGg>gTg p.G538V RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 538 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) ATCTTCCTCCCCAGAACTATG 0.458 6 56 --- --- --- --- SLC26A9 115019 broad.mit.edu 37 1 205901876 205901876 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:205901876G>T ENST00000367135.3 - 4 443 c.330C>A c.(328-330)ccC>ccA p.P110P SLC26A9_ENST00000367134.2_Silent_p.P110P|SLC26A9_ENST00000340781.4_Silent_p.P110P NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 110 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AGGTCAGGAGGGGGAAGAAGG 0.592 6 49 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 215844538 215844538 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:215844538G>T ENST00000366943.2 - 64 14295 c.13909C>A c.(13909-13911)Cct>Act p.P4637T USH2A_ENST00000307340.3_Missense_Mutation_p.P4637T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4637 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGATGTGGAGGGGGTTGCATC 0.478 HNSCC(13;0.011) 6 108 --- --- --- --- LBR 3930 broad.mit.edu 37 1 225611726 225611726 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:225611726C>A ENST00000338179.2 - 2 177 c.52G>T c.(52-54)Ggg>Tgg p.G18W LBR_ENST00000272163.4_Missense_Mutation_p.G18W NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 18 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity 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) AGTGAACTCCCAGGCCATCGA 0.373 10 494 --- --- --- --- SDE2 163859 broad.mit.edu 37 1 226175877 226175877 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:226175877G>T ENST00000272091.7 - 6 872 c.854C>A c.(853-855)cCg>cAg p.P285Q NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) GTCAGTCACCGGGATCTGCAG 0.502 7 185 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228462475 228462475 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:228462475G>T ENST00000570156.2 + 24 7085 c.7011G>T c.(7009-7011)ctG>ctT p.L2337L OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1962L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L809L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1962L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1322 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACCTGGTGCTGGAGGACGCGG 0.647 4 14 --- --- --- --- WDR64 128025 broad.mit.edu 37 1 241958523 241958523 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:241958523C>A ENST00000366552.2 + 25 3189 c.2982C>A c.(2980-2982)ccC>ccA p.P994P WDR64_ENST00000437684.2_Silent_p.P827P NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 994 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GAAGATATCCCTTGGAAGGTT 0.443 6 141 --- --- --- --- CNST 163882 broad.mit.edu 37 1 246784922 246784922 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:246784922C>A ENST00000366513.4 + 3 840 c.571C>A c.(571-573)Ctt>Att p.L191I CNST_ENST00000366512.3_Missense_Mutation_p.L191I|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 191 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AGCACTTCCCCTTTGCCTTCA 0.468 8 169 --- --- --- --- OR2L8 391190 broad.mit.edu 37 1 248112853 248112853 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:248112853G>T ENST00000357191.3 + 1 694 c.694G>T c.(694-696)Ggg>Tgg p.G232W OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATCTGCAGAAGGGAGGAAGAA 0.453 6 160 --- --- --- --- PXDN 7837 broad.mit.edu 37 2 1667464 1667464 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:1667464G>T ENST00000252804.4 - 12 1530 c.1480C>A c.(1480-1482)Ctc>Atc p.L494I NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 494 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGGTCGTGGAGGGCAACACCA 0.622 6 117 --- --- --- --- ROCK2 9475 broad.mit.edu 37 2 11367418 11367418 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:11367418C>A ENST00000315872.6 - 6 1278 c.830G>T c.(829-831)tGg>tTg p.W277L ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 277 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TACAGACCACCAATCACATTC 0.368 7 203 --- --- --- --- IFT172 26160 broad.mit.edu 37 2 27688726 27688726 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:27688726C>A ENST00000260570.3 - 17 1819 c.1716G>T c.(1714-1716)cgG>cgT p.R572R NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 572 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTCCCCCGCCCCGCTCCAGAC 0.488 9 407 --- --- --- --- C2orf16 84226 broad.mit.edu 37 2 27804602 27804602 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:27804602C>A ENST00000408964.2 + 1 5214 c.5163C>A c.(5161-5163)ccC>ccA p.P1721P NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1721 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATCGCAGTCCCGCTCGGAGGA 0.567 7 263 --- --- --- --- C2orf16 84226 broad.mit.edu 37 2 27804794 27804794 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:27804794C>A ENST00000408964.2 + 1 5406 c.5355C>A c.(5353-5355)ccC>ccA p.P1785P AC074091.1_ENST00000408604.1_RNA NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1785 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATCACAGTCCCTCAGAGAAAA 0.542 7 234 --- --- --- --- PLEKHH2 130271 broad.mit.edu 37 2 43939470 43939470 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:43939470C>A ENST00000282406.4 + 15 2518 c.2408C>A c.(2407-2409)cCa>cAa p.P803Q NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 803 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCTGCCAACCCACTTTCCCTG 0.468 5 81 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63280185 63280185 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:63280185C>A ENST00000366671.3 + 3 336 c.60C>A c.(58-60)ccC>ccA p.P20P OTX1_ENST00000282549.2_Silent_p.P20P NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 20 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P20P(2) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) TGGCCGGGCCCGCCATGGACC 0.657 5 154 --- --- --- --- LGALSL 29094 broad.mit.edu 37 2 64683534 64683534 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:64683534G>T ENST00000238875.5 + 4 764 c.310G>T c.(310-312)Ggg>Tgg p.G104W LGALSL_ENST00000409537.2_Intron NM_014181.2 NP_054900.2 Q3ZCW2 LEGL_HUMAN lectin, galactoside-binding-like 104 Galectin. intracellular sugar binding TTGTATATCTGGGGAGAGGGG 0.527 8 277 --- --- --- --- CEP68 23177 broad.mit.edu 37 2 65298930 65298930 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:65298930C>A ENST00000377990.2 + 3 903 c.700C>A c.(700-702)Cag>Aag p.Q234K CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 234 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 GGTCGTCCCCCAGGAACCTTC 0.652 8 107 --- --- --- --- POLR1A 25885 broad.mit.edu 37 2 86257427 86257427 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:86257427C>A ENST00000263857.6 - 31 5049 c.4671G>T c.(4669-4671)aaG>aaT p.K1557N POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1557 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGTGATGCCCTTGGTCGCAT 0.478 7 108 --- --- --- --- KDM3A 55818 broad.mit.edu 37 2 86693619 86693619 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:86693619G>T ENST00000409556.1 + 11 1497 c.1132G>T c.(1132-1134)Gga>Tga p.G378* KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378* Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 378 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GATTGGAACTGGAGACTTGAA 0.433 6 218 --- --- --- --- IGKV3-7 28915 broad.mit.edu 37 2 89278096 89278096 + RNA SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:89278096G>T ENST00000390247.2 - 0 335 GAACCTGGCTGGGATGCTAGT 0.537 6 139 --- --- --- --- ZNF514 84874 broad.mit.edu 37 2 95815602 95815602 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:95815602C>A ENST00000295208.2 - 5 1090 c.628G>T c.(628-630)Ggg>Tgg p.G210W ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AAGGACTTCCCACACTCATTA 0.443 6 151 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98451389 98451389 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:98451389C>A ENST00000186436.5 - 9 1033 c.e9-1 TMEM131_ENST00000425805.2_Splice_Site NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GAGGAATTTCCTGACAAGTTA 0.368 6 167 --- --- --- --- IL1RL2 8808 broad.mit.edu 37 2 102804319 102804319 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:102804319G>T ENST00000441515.2 + 2 81 c.72G>T c.(70-72)ccG>ccT p.P24P IL1RL2_ENST00000264257.2_5'UTR|IL1RL2_ENST00000539491.1_5'UTR|IL1RL2_ENST00000481806.1_3'UTR Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 0 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 CTTGCAGCCCGGTTTGGGGAT 0.652 5 103 --- --- --- --- RGPD4 285190 broad.mit.edu 37 2 108487617 108487617 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:108487617G>T ENST00000408999.3 + 20 3234 c.3157G>T c.(3157-3159)Gga>Tga p.G1053* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1053 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ACTTGTAATAGGAGAAGAAGG 0.393 12 856 --- --- --- --- ANAPC1 64682 broad.mit.edu 37 2 112620054 112620054 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:112620054T>C ENST00000341068.3 - 10 1946 c.1174A>G c.(1174-1176)Aat>Gat p.N392D NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 392 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AAGGAGCCATTAGAATTACTA 0.378 6 24 --- --- --- --- MAP3K2 10746 broad.mit.edu 37 2 128066229 128066229 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:128066229C>A ENST00000409947.1 - 16 1848 c.1566G>T c.(1564-1566)acG>acT p.T522T MAP3K2_ENST00000344908.5_Silent_p.T522T Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 522 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) ATGGTGTGCCCGTGACAGACT 0.488 7 348 --- --- --- --- MAP3K2 10746 broad.mit.edu 37 2 128079650 128079650 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:128079650G>T ENST00000409947.1 - 12 1299 c.1017C>A c.(1015-1017)acC>acA p.T339T MAP3K2_ENST00000344908.5_Silent_p.T339T Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 339 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TGTCCATTACGGTCAAAGTAG 0.378 3 25 --- --- --- --- MGAT5 4249 broad.mit.edu 37 2 135076250 135076250 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:135076250C>A ENST00000409645.1 + 5 765 c.513C>A c.(511-513)ccC>ccA p.P171P MGAT5_ENST00000281923.2_Silent_p.P171P Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 171 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GTTCAGATCCCTGCTACGCAG 0.512 7 236 --- --- --- --- THSD7B 80731 broad.mit.edu 37 2 137928433 137928433 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:137928433G>T ENST00000409968.1 + 7 1826 c.1648G>T c.(1648-1650)Ggg>Tgg p.G550W THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGCATCAGAAGGGATCTGTTT 0.537 5 50 --- --- --- --- ZEB2 9839 broad.mit.edu 37 2 145156365 145156365 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:145156365G>T ENST00000558170.2 - 8 3573 c.2389C>A c.(2389-2391)Cac>Aac p.H797N ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 797 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GAACTACTGTGGGAGTTTTTA 0.393 7 185 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152370886 152370886 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:152370886C>A ENST00000427231.2 - 159 23275 c.23073G>T c.(23071-23073)atG>atT p.M7691I NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000172853.10_Missense_Mutation_p.M5990I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 5990 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTGTATCTTCCATTTCAGTGA 0.443 7 320 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152487817 152487817 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:152487817C>A ENST00000427231.2 - 66 9660 c.9458G>T c.(9457-9459)tGg>tTg p.W3153L NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3153 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AATGGGGACCCAGCCAATGCC 0.448 6 78 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166852624 166852624 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:166852624C>A ENST00000423058.2 - 24 4497 c.4480G>T c.(4480-4482)Gga>Tga p.G1494* SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G1494*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1494 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTTGACCTCCAAAGTATAGA 0.308 5 91 --- --- --- --- SLC25A12 8604 broad.mit.edu 37 2 172683358 172683358 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:172683358G>T ENST00000422440.2 - 9 917 c.880C>A c.(880-882)Cca>Aca p.P294T SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 294 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TCAGCCAATGGGGCTATTCTC 0.403 6 116 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197946386 197946386 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:197946386C>A ENST00000328737.2 - 15 1522 c.1446G>T c.(1444-1446)aaG>aaT p.K482N ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 507 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTTCCTTTTCCTTCAGCTCCC 0.408 8 287 --- --- --- --- ATIC 471 broad.mit.edu 37 2 216213941 216213941 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:216213941C>A ENST00000435675.1 + 14 2016 c.1625C>A c.(1624-1626)cCt>cAt p.P542H ATIC_ENST00000236959.9_Missense_Mutation_p.P543H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 543 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GCCTTCTTCCCTTTCCGAGAT 0.433 T ALK ALCL 6 88 --- --- --- --- CYP27A1 1593 broad.mit.edu 37 2 219677402 219677402 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:219677402C>A ENST00000258415.4 + 4 1201 c.774C>A c.(772-774)ccC>ccA p.P258P NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 258 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CCTTCCTCCCCAAGTGGACTC 0.572 10 379 --- --- --- --- DOCK10 55619 broad.mit.edu 37 2 225657754 225657754 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:225657754G>T ENST00000409592.3 - 47 5343 c.5230C>A c.(5230-5232)Ctg>Atg p.L1744M DOCK10_ENST00000258390.7_Missense_Mutation_p.L1750M Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1750 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TCCGAGAGCAGGGATGCTGTG 0.443 8 242 --- --- --- --- DNER 92737 broad.mit.edu 37 2 230450627 230450627 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:230450627C>A ENST00000341772.4 - 4 928 c.794G>T c.(793-795)gGg>gTg p.G265V DNER_ENST00000482831.1_5'UTR NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 265 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GACCAGTCCCCCTGAAGCCTG 0.517 6 82 --- --- --- --- ALPPL2 251 broad.mit.edu 37 2 233273012 233273012 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:233273012C>A ENST00000295453.3 + 6 736 c.684C>A c.(682-684)ccC>ccA p.P228P NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 228 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) ACATGTTTCCCATGGGGACCC 0.617 6 116 --- --- --- --- AGAP1 116987 broad.mit.edu 37 2 236617868 236617868 + Missense_Mutation SNP C C A rs139445824 byFrequency TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:236617868C>A ENST00000304032.8 + 2 789 c.209C>A c.(208-210)cCg>cAg p.P70Q AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q NM_001037131.2 NP_001032208.1 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CGATCTGTCCCGGAGCTCAAA 0.562 5 179 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238266526 238266526 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:238266526C>A ENST00000295550.4 - 22 6924 c.e22-1 COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.?(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGGGTTACCCTGAAAGCAAC 0.527 7 208 --- --- --- --- STK25 10494 broad.mit.edu 37 2 242438544 242438544 + Missense_Mutation SNP C C A rs139865238 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:242438544C>A ENST00000316586.4 - 7 980 c.631G>T c.(631-633)Ggg>Tgg p.G211W STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.G117W NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 211 Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GGAGGCTCCCCCTTGGCCAGC 0.617 5 55 --- --- --- --- SUMF1 285362 broad.mit.edu 37 3 4452617 4452617 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:4452617C>A ENST00000272902.5 - 7 921 c.886G>T c.(886-888)Ggg>Tgg p.G296W SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 296 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CATGCGTTCCCCACTATGTTG 0.413 7 219 --- --- --- --- THUMPD3 25917 broad.mit.edu 37 3 9412787 9412787 + Missense_Mutation SNP C C A rs150258248 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:9412787C>A ENST00000345094.3 + 4 708 c.374C>A c.(373-375)cCa>cAa p.P125Q THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 125 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) GGAAAACTCCCATGGTCAAAC 0.323 6 186 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14200143 14200143 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:14200143G>T ENST00000285021.7 - 9 1454 c.1240C>A c.(1240-1242)Cag>Aag p.Q414K XPC_ENST00000449060.2_Missense_Mutation_p.Q377K NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 414 Arg/Lys-rich (basic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGACGTCGCTGGGTTGCCTTC 0.602 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 198 --- --- --- --- BTD 686 broad.mit.edu 37 3 15677018 15677018 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:15677018C>A ENST00000383778.4 + 2 430 c.72C>A c.(70-72)acC>acA p.T24T BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000303498.5_Silent_p.T44T|BTD_ENST00000437172.1_Silent_p.T46T NM_001281725.1 NP_001268654.1 P43251 BTD_HUMAN biotinidase 44 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 GAGCCCACACCGGGGAGGAGA 0.532 5 151 --- --- --- --- TRIM71 131405 broad.mit.edu 37 3 32915352 32915352 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:32915352C>A ENST00000383763.5 + 2 958 c.895C>A c.(895-897)Cgt>Agt p.R299S NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACCCATCTGTCGTGAGTGCAC 0.592 6 409 --- --- --- --- GOLGA4 2803 broad.mit.edu 37 3 37323637 37323637 + Silent SNP C C A rs150573420 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:37323637C>A ENST00000361924.2 + 3 725 c.351C>A c.(349-351)ccC>ccA p.P117P GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 117 Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TTGATCCACCCTCTGATATGG 0.448 6 128 --- --- --- --- ACAA1 30 broad.mit.edu 37 3 38164548 38164548 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:38164548G>T ENST00000333167.8 - 12 1437 c.1265C>A c.(1264-1266)cCt>cAt p.P422H ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 422 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) TCAGTTCCCAGGGTATTCAAA 0.542 6 110 --- --- --- --- CCR2 729230 broad.mit.edu 37 3 46399335 46399335 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:46399335G>T ENST00000292301.4 + 2 802 c.317G>T c.(316-318)tGg>tTg p.W106L CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000400888.2_Missense_Mutation_p.W106L NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 106 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GCAAATGAGTGGGTCTTTGGG 0.443 8 439 --- --- --- --- SETD2 29072 broad.mit.edu 37 3 47163303 47163303 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:47163303C>A ENST00000409792.3 - 3 2865 c.2823G>T c.(2821-2823)aaG>aaT p.K941N NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 941 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAGCAAATCCCTTTCCTGAAT 0.408 """N, F, S, Mis""" clear cell renal carcinoma 6 145 --- --- --- --- COL7A1 1294 broad.mit.edu 37 3 48612668 48612668 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:48612668C>A ENST00000328333.8 - 74 6295 c.6188G>T c.(6187-6189)cGg>cTg p.R2063L COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2063 Triple-helical region. R -> W (in HS-DEB; also in a mild form). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.R2063Q(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTTCTCTCCCCGTTCTCCCTG 0.632 6 149 --- --- --- --- TEX264 51368 broad.mit.edu 37 3 51733489 51733489 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:51733489C>A ENST00000415259.1 + 4 1629 c.548C>A c.(547-549)cCa>cAa p.P183Q TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q Q9Y6I9 TX264_HUMAN testis expressed 264 183 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TTCATGTGCCCACTGGCACGG 0.557 7 168 --- --- --- --- LINC00696 100128378 broad.mit.edu 37 3 52097350 52097350 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:52097350C>A ENST00000541313.1 - 1 217 c.218G>T c.(217-219)tGg>tTg p.W73L TAATCCATCCCAGTACTCAAT 0.542 6 137 --- --- --- --- NISCH 11188 broad.mit.edu 37 3 52526356 52526356 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:52526356C>A ENST00000345716.4 + 21 4507 c.4373C>A c.(4372-4374)cCg>cAg p.P1458Q NISCH_ENST00000479054.1_Missense_Mutation_p.P1458Q NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1458 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCAGGTGGCCCGGCTAGAGCC 0.627 7 292 --- --- --- --- PTPRG 5793 broad.mit.edu 37 3 62142882 62142882 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:62142882C>A ENST00000474889.1 + 7 1201 c.824C>A c.(823-825)cCc>cAc p.P275H PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 275 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AGACCCGTCCCCATCTCTTAC 0.483 5 77 --- --- --- --- PDZRN3 23024 broad.mit.edu 37 3 73433778 73433778 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:73433778G>T ENST00000263666.4 - 10 2053 c.1939C>A c.(1939-1941)Cgc>Agc p.R647S PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 647 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) AGGAGCTCGCGGAAGCGCTCG 0.662 5 114 --- --- --- --- PDZRN3 23024 broad.mit.edu 37 3 73440205 73440205 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:73440205C>A ENST00000263666.4 - 6 1431 c.1317G>T c.(1315-1317)acG>acT p.T439T PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T|PDZRN3_ENST00000466348.1_5'UTR NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 439 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) CTTCATCGTCCGTCCGGTAGC 0.448 7 375 --- --- --- --- CNTN3 5067 broad.mit.edu 37 3 74414719 74414719 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:74414719C>A ENST00000263665.6 - 8 1108 c.1081G>T c.(1081-1083)Gag>Tag p.E361* NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 361 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TACCTTACCTCTAGCACCAGG 0.498 8 316 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77614158 77614158 + Missense_Mutation SNP T T A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:77614158T>A ENST00000461745.1 + 12 2636 c.1736T>A c.(1735-1737)cTc>cAc p.L579H ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 579 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGACCACCCTCTATACTGTA 0.463 33 44 --- --- --- --- TOPBP1 11073 broad.mit.edu 37 3 133342926 133342926 + Silent SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:133342926T>C ENST00000260810.5 - 17 3029 c.2898A>G c.(2896-2898)gtA>gtG p.V966V NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 966 BRCT 6. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 AAACAATGTGTACTCCTCTTT 0.383 Other conserved DNA damage response genes 21 43 --- --- --- --- ZIC1 7545 broad.mit.edu 37 3 147128330 147128330 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:147128330C>A ENST00000282928.4 + 1 1160 c.431C>A c.(430-432)cCc>cAc p.P144H NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 144 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CTCCTCTTCCCCGGGCTTCAC 0.721 4 20 --- --- --- --- PLCH1 23007 broad.mit.edu 37 3 155200582 155200582 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:155200582G>T ENST00000460012.1 - 23 3500 c.3143C>A c.(3142-3144)cCa>cAa p.P1048Q PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1086Q|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1086 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATGCTGCTTTGGGGAGAGAGA 0.512 7 221 --- --- --- --- LXN 56925 broad.mit.edu 37 3 158390192 158390192 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:158390192C>A ENST00000264265.3 - 1 290 c.76G>T c.(76-78)Ggg>Tgg p.G26W GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron NM_020169.3 NP_064554.3 Q9BS40 LXN_HUMAN latexin 26 cytoplasm metalloendopeptidase inhibitor activity|protein binding breast(2)|endometrium(1)|kidney(2) 5 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TGCGGGGTCCCCTGCTGGTAG 0.592 OREG0015899 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 129 --- --- --- --- SERPINI2 5276 broad.mit.edu 37 3 167189620 167189620 + Translation_Start_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:167189620C>A ENST00000476257.1 - 3 301 c.3G>T c.(1-3)atG>atT p.M1I SERPINI2_ENST00000461846.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000471111.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Start_Codon_SNP_p.M1I O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 1 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 AGATTGTGTCCATTTTGACTT 0.343 6 222 --- --- --- --- NCEH1 57552 broad.mit.edu 37 3 172428830 172428830 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:172428830C>A ENST00000538775.1 - 1 178 c.41G>T c.(40-42)cGg>cTg p.R14L NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L NM_001146276.1 NP_001139748.1 Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 0 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 CGATACCACCCGGAGACCTCC 0.642 OREG0015927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 71 --- --- --- --- DCUN1D1 54165 broad.mit.edu 37 3 182679102 182679102 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:182679102C>A ENST00000292782.4 - 4 585 c.432G>T c.(430-432)atG>atT p.M144I DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 144 DCUN1. ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ATTCTTGTTCCATCTTGGGTA 0.303 10 634 --- --- --- --- DVL3 1857 broad.mit.edu 37 3 183887886 183887886 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:183887886C>A ENST00000313143.3 + 14 1839 c.1591C>A c.(1591-1593)Cct>Act p.P531T DVL3_ENST00000431765.1_Missense_Mutation_p.P514T|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 531 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GGGGGCCGCCCCTTGGCCCAT 0.682 5 63 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184910074 184910074 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:184910074C>A ENST00000231887.3 - 7 2187 c.2112G>T c.(2110-2112)caG>caT p.Q704H EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 704 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity p.Q704H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GAGGGTTTCCCTGAGAAGCCA 0.463 6 101 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184922358 184922358 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:184922358C>A ENST00000231887.3 - 6 831 c.756G>T c.(754-756)gaG>gaT p.E252D EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 252 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) ACAGCTCCTCCTCCTTCTTGA 0.527 7 244 --- --- --- --- EVC2 132884 broad.mit.edu 37 4 5687153 5687153 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:5687153C>A ENST00000310917.2 - 6 1251 c.520G>T c.(520-522)Ggg>Tgg p.G174W EVC2_ENST00000344938.1_Missense_Mutation_p.G254W|EVC2_ENST00000344408.5_Missense_Mutation_p.G254W NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 254 integral to membrane p.G254W(1) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCCCCGTTCCCGAGGTCTCCA 0.572 4 111 --- --- --- --- DCAF16 54876 broad.mit.edu 37 4 17805633 17805633 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:17805633G>T ENST00000382247.1 - 3 1192 c.132C>A c.(130-132)ccC>ccA p.P44P DCAF16_ENST00000536863.1_Silent_p.P44P NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 44 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 GCGATAAGTTGGGCACCATAG 0.408 5 104 --- --- --- --- CCKAR 886 broad.mit.edu 37 4 26491107 26491107 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:26491107C>A ENST00000295589.3 - 2 307 c.e2-1 NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GGCTGCCACTCTGCAGAGAGA 0.547 5 75 --- --- --- --- KDR 3791 broad.mit.edu 37 4 55974046 55974046 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:55974046C>A ENST00000263923.4 - 10 1565 c.1270G>T c.(1270-1272)Ggt>Tgt p.G424C NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 424 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GATTTCTCACCAATCTGGGGT 0.453 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 88 --- --- --- --- REST 5978 broad.mit.edu 37 4 57797468 57797468 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:57797468C>A ENST00000309042.7 + 4 2758 c.2444C>A c.(2443-2445)cCt>cAt p.P815H NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 815 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) AAAAAGCCTCCTCTCCGAAAA 0.507 7 199 --- --- --- --- PROL1 58503 broad.mit.edu 37 4 71275452 71275452 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:71275452C>A ENST00000399575.2 + 3 581 c.407C>A c.(406-408)cCt>cAt p.P136H PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 136 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ATTTACCTTCCTATCTCTAAC 0.438 7 110 --- --- --- --- ADAMTS3 9508 broad.mit.edu 37 4 73169752 73169752 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:73169752C>A ENST00000286657.4 - 17 2342 c.2306G>T c.(2305-2307)gGg>gTg p.G769V NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 769 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGCTTCCTCCCCTTTGCCATT 0.388 8 235 --- --- --- --- AGPAT9 84803 broad.mit.edu 37 4 84502812 84502812 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:84502812G>T ENST00000395226.2 + 4 524 c.306G>T c.(304-306)aaG>aaT p.K102N AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 102 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) TCTCCAAGAAGGGATTGGAAG 0.443 6 152 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85605227 85605227 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:85605227C>A ENST00000322366.6 - 62 9951 c.9544G>T c.(9544-9546)Ggg>Tgg p.G3182W WDFY3_ENST00000295888.4_Missense_Mutation_p.G3199W Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3199 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATAGGGTTCCCATTGATGCTC 0.502 5 83 --- --- --- --- AFF1 4299 broad.mit.edu 37 4 88055651 88055651 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:88055651C>A ENST00000307808.6 + 19 3736 c.3316C>A c.(3316-3318)Cca>Aca p.P1106T AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 1106 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCCTCTTTCCCCAATGCCTTC 0.567 9 424 --- --- --- --- NFKB1 4790 broad.mit.edu 37 4 103528375 103528375 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:103528375G>T ENST00000226574.4 + 18 2490 c.2023G>T c.(2023-2025)Ggg>Tgg p.G675W NFKB1_ENST00000505458.1_Missense_Mutation_p.G674W|NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 674 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GGTGGCCGCTGGGGCTGACGT 0.572 6 111 --- --- --- --- C4orf21 55345 broad.mit.edu 37 4 113510868 113510868 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:113510868G>T ENST00000309071.5 - 11 3264 c.3139C>A c.(3139-3141)Cac>Aac p.H1047N C4orf21_ENST00000505019.1_Intron Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 1047 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AGAGCAATGTGGTAACGACTA 0.348 6 58 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126372476 126372476 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:126372476C>A ENST00000394329.3 + 9 10318 c.10305C>A c.(10303-10305)ccC>ccA p.P3435P FAT4_ENST00000335110.5_Silent_p.P1733P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3435 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTCCATCCCCAGCTGGAGCA 0.453 7 144 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140641195 140641195 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:140641195G>T ENST00000509479.2 - 5 3555 c.2699C>A c.(2698-2700)cCg>cAg p.P900Q MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 896 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) AGGTTGCCTCGGTCCCTGGGC 0.522 7 414 --- --- --- --- LRBA 987 broad.mit.edu 37 4 151356741 151356741 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:151356741C>A ENST00000535741.1 - 46 7514 c.7041G>T c.(7039-7041)aaG>aaT p.K2347N LRBA_ENST00000357115.3_Splice_Site_p.K2358N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2358 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ATTTCTGTACCTTAATATCAG 0.358 7 139 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183522255 183522255 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr4:183522255C>A ENST00000511685.1 + 4 813 c.690C>A c.(688-690)ccC>ccA p.P230P TENM3_ENST00000406950.2_Silent_p.P230P teneurin transmembrane protein 3 AAACCACACCCGAGTCCGTCC 0.527 5 146 --- --- --- --- C5orf55 116349 broad.mit.edu 37 5 442821 442821 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:442821C>A ENST00000408966.2 - 1 437 c.117G>T c.(115-117)gcG>gcT p.A39A NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 39 extracellular region large_intestine(1)|lung(2) 3 CAACCTTCTCCGCTTTGGTTT 0.602 7 246 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879725 1879725 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:1879725G>T ENST00000505790.1 - 5 1085 c.629C>A c.(628-630)cCg>cAg p.P210Q IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 210 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CTTGTTCCGCGGCGGCCACGT 0.662 4 55 --- --- --- --- CDH12 1010 broad.mit.edu 37 5 21751918 21751918 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:21751918C>A ENST00000382254.1 - 15 3399 c.2313G>T c.(2311-2313)tgG>tgT p.W771C CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 771 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGCGGGGTCCCCAGTCTGTCA 0.502 HNSCC(59;0.17) 6 117 --- --- --- --- CDH12 1010 broad.mit.edu 37 5 22078761 22078761 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:22078761G>T ENST00000382254.1 - 5 1111 c.25C>A c.(25-27)Ctg>Atg p.L9M CDH12_ENST00000522262.1_Missense_Mutation_p.L9M|CDH12_ENST00000504376.2_Missense_Mutation_p.L9M NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 9 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L9M(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 CAGAGAAGCAGGGATAAACAG 0.438 HNSCC(59;0.17) 7 176 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32087269 32087269 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:32087269C>A ENST00000438447.1 + 20 4103 c.3715C>A c.(3715-3717)Cca>Aca p.P1239T PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T O15018 PDZD2_HUMAN PDZ domain containing 2 1239 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CATCTCTTCCCCAGGGAAGAA 0.552 6 122 --- --- --- --- RAI14 26064 broad.mit.edu 37 5 34823167 34823167 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:34823167C>A ENST00000265109.3 + 15 1507 c.1220C>A c.(1219-1221)cCa>cAa p.P407Q RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 407 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) ACCTCTCCCCCAGACTCCAAA 0.458 5 78 --- --- --- --- NSA2 10412 broad.mit.edu 37 5 74066519 74066519 + Missense_Mutation SNP A A C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:74066519A>C ENST00000296802.5 + 4 775 c.406A>C c.(406-408)Att>Ctt p.I136L NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 136 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 ATTAAAAGTTATTCGAACAGG 0.368 22 59 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80408628 80408628 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:80408628G>T ENST00000265080.4 + 14 2105 c.2038G>T c.(2038-2040)Ggg>Tgg p.G680W NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 680 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGTGGTGCTGGGGAAACTCTC 0.488 7 132 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90024597 90024597 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:90024597C>A ENST00000405460.2 + 49 10369 c.10273C>A c.(10273-10275)Cag>Aag p.Q3425K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3425 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCCATTTCCCAGGCTAATGC 0.498 5 116 --- --- --- --- MAN2A1 4124 broad.mit.edu 37 5 109159447 109159447 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:109159447C>A ENST00000261483.4 + 16 3527 c.2475C>A c.(2473-2475)ccC>ccA p.P825P NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 825 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) CAACACCGCCCTTTGTCAGAG 0.328 6 91 --- --- --- --- DCP2 167227 broad.mit.edu 37 5 112337354 112337354 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:112337354C>A ENST00000389063.2 + 7 987 c.789C>A c.(787-789)ccC>ccA p.P263P DCP2_ENST00000543319.1_Silent_p.P52P|DCP2_ENST00000515408.1_Silent_p.P263P NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 263 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) CGGCTAAACCCACTGTGGAAA 0.383 6 236 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648420 127648420 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:127648420G>T ENST00000508053.1 - 43 5759 c.4785C>A c.(4783-4785)acC>acA p.T1595T FBN2_ENST00000262464.4_Silent_p.T1595T P35556 FBN2_HUMAN fibrillin 2 1595 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.T1595T(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCCCGATCTCGGTGTTGCAAG 0.562 8 314 --- --- --- --- H2AFY 9555 broad.mit.edu 37 5 134705107 134705107 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:134705107G>T ENST00000511689.1 - 4 1059 c.466C>A c.(466-468)Cgg>Agg p.R156R H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Silent_p.R156R NM_001040158.1|NM_138610.2 NP_001035248.1|NP_613258.2 O75367 H2AY_HUMAN H2A histone family, member Y 156 Lys-rich. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTGGATTTCCGGGCCCCTTTC 0.517 7 396 --- --- --- --- BRD8 10902 broad.mit.edu 37 5 137495792 137495792 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:137495792C>A ENST00000254900.5 - 19 2869 c.2498G>T c.(2497-2499)aGa>aTa p.R833I BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 833 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTAGAATCTCTCCCTCGAAG 0.498 7 164 --- --- --- --- DNAJC18 202052 broad.mit.edu 37 5 138755831 138755831 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:138755831C>A ENST00000302060.5 - 7 943 c.863G>T c.(862-864)aGa>aTa p.R288I NM_152686.3 NP_689899.1 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 288 protein folding integral to membrane heat shock protein binding|unfolded protein binding endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGAAGCTCCTCTGTAGGCCTT 0.413 6 103 --- --- --- --- PCDHB3 56132 broad.mit.edu 37 5 140481720 140481720 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:140481720C>A ENST00000231130.2 + 1 1487 c.1487C>A c.(1486-1488)cCg>cAg p.P496Q AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 496 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCAGGACCCGCACCTGCCC 0.647 6 174 --- --- --- --- PCDHGA12 26025 broad.mit.edu 37 5 140812030 140812030 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:140812030C>A ENST00000252085.3 + 1 1846 c.1704C>A c.(1702-1704)ccC>ccA p.P568P PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCCTCCCCACGGACGGTT 0.677 8 215 --- --- --- --- DPYSL3 1809 broad.mit.edu 37 5 146798139 146798139 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:146798139C>A ENST00000343218.5 - 3 723 c.526G>T c.(526-528)Ggg>Tgg p.G176W DPYSL3_ENST00000398514.3_Missense_Mutation_p.G62W|DPYSL3_ENST00000534907.1_Intron NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 62 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCATCTTCCCATTGGCTTCA 0.433 7 228 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156514274 156514274 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:156514274C>A ENST00000307851.4 - 7 1475 c.745G>T c.(745-747)Gga>Tga p.G249* HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221* NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 249 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTGCCAATCCTGAGGGAGGG 0.433 5 74 --- --- --- --- ITK 3702 broad.mit.edu 37 5 156638318 156638318 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:156638318C>A ENST00000422843.3 + 3 416 c.264C>A c.(262-264)ctC>ctA p.L88L CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 88 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACAACTACCTCCTATATGTGT 0.507 T SYK peripheral T-cell lymphoma 7 148 --- --- --- --- BTNL3 10917 broad.mit.edu 37 5 180432842 180432842 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:180432842C>A ENST00000342868.6 + 8 1555 c.1371C>A c.(1369-1371)ccC>ccA p.P457P NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 457 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AGGGGACTCCCATATTCATAT 0.512 4 28 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7542219 7542219 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:7542219C>A ENST00000379802.3 + 1 412 c.71C>A c.(70-72)cCg>cAg p.P24Q DSP_ENST00000418664.2_Missense_Mutation_p.P24Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 24 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGTCTGGCCCGGACCTGCGC 0.682 3 12 --- --- --- --- RBM24 221662 broad.mit.edu 37 6 17292081 17292081 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:17292081C>A ENST00000379052.5 + 4 678 c.442C>A c.(442-444)Cct>Act p.P148T RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.P90T NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 148 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding p.P103T(2)|p.P148T(1) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CTCCACCACCCCTTACATTGA 0.592 7 194 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30675940 30675940 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:30675940C>A ENST00000376406.3 - 8 3063 c.2416G>T c.(2416-2418)Ggg>Tgg p.G806W MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 806 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding p.G806W(1) breast(2)|kidney(1)|ovary(1) 4 GTCTGCCTCCCTCTGCCTTGA 0.532 Other conserved DNA damage response genes 8 222 --- --- --- --- CCHCR1 54535 broad.mit.edu 37 6 31118575 31118575 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:31118575C>A ENST00000396268.3 - 6 1216 c.1028G>T c.(1027-1029)gGg>gTg p.G343V CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.G254V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 254 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CACTTGTTCCCCAACATATTT 0.537 10 345 --- --- --- --- LTA 4049 broad.mit.edu 37 6 31541429 31541429 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:31541429C>A ENST00000454783.1 + 4 835 c.577C>A c.(577-579)Ctc>Atc p.L193I LTA_ENST00000418386.2_Missense_Mutation_p.L193I NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 193 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CCACCTAGTCCTCAGCCCTAG 0.522 8 207 --- --- --- --- HSPA1A 3303 broad.mit.edu 37 6 31785376 31785376 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:31785376G>T ENST00000375651.5 + 1 2086 c.1843G>T c.(1843-1845)Ggt>Tgt p.G615C HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 615 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 CCAGGGTGCCGGTGGTCCCGG 0.622 5 114 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32164199 32164199 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:32164199C>A ENST00000375023.3 - 29 5339 c.e29-1 NOTCH4_ENST00000443903.2_Intron NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GCAGTTTTCCCTAGGGGACGA 0.657 6 110 --- --- --- --- RPS10-NUDT3 100529239 broad.mit.edu 37 6 34389548 34389548 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:34389548C>A ENST00000605528.1 - 4 375 c.359G>T c.(358-360)gGg>gTg p.G120V RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000326199.8_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR NM_001202470.2 NP_001189399.1 GTCAGCTTCCCCTCTTGTGAG 0.498 8 331 --- --- --- --- SCUBE3 222663 broad.mit.edu 37 6 35213840 35213840 + Missense_Mutation SNP C C A rs142335824 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:35213840C>A ENST00000274938.7 + 20 2719 c.2719C>A c.(2719-2721)Cgt>Agt p.R907S SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 907 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CAACAGCGCCCGTGGCTTCCA 0.542 6 169 --- --- --- --- STK38 11329 broad.mit.edu 37 6 36467677 36467677 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:36467677C>A ENST00000229812.7 - 10 1210 c.925G>T c.(925-927)Ggg>Tgg p.G309W NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 309 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGATCACCCCAAGCGACCAC 0.478 6 126 --- --- --- --- KLHDC3 116138 broad.mit.edu 37 6 42986383 42986383 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:42986383G>T ENST00000326974.4 + 7 941 c.746G>T c.(745-747)gGg>gTg p.G249V KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 249 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGCTACAATGGGGAGCTGTAC 0.512 9 336 --- --- --- --- DST 667 broad.mit.edu 37 6 56483809 56483809 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:56483809G>T ENST00000370765.6 - 23 5130 c.5023C>A c.(5023-5025)Cag>Aag p.Q1675K DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1035 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGGTATTCTGGATGATAATG 0.383 6 154 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69703722 69703722 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:69703722C>A ENST00000370598.1 + 11 2618 c.1797C>A c.(1795-1797)acC>acA p.T599T NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 599 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CCCAGGTGACCAAGACACTGT 0.438 7 281 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90383966 90383966 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:90383966G>T ENST00000369393.3 - 79 13219 c.13104C>A c.(13102-13104)ccC>ccA p.P4368P MDN1_ENST00000428876.1_Silent_p.P4368P|RP1-122O8.7_ENST00000438877.1_RNA Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4368 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGCAACCAGAGGGCAGCTGAC 0.473 5 60 --- --- --- --- EPHA7 2045 broad.mit.edu 37 6 93982058 93982058 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:93982058G>T ENST00000369303.4 - 6 1591 c.1407C>A c.(1405-1407)ccC>ccA p.P469P NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 469 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGACTCCATTGGGATGCTCTG 0.458 6 184 --- --- --- --- FAXC 84553 broad.mit.edu 37 6 99729207 99729207 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:99729207G>T ENST00000389677.5 - 6 1345 c.1063C>A c.(1063-1065)Cac>Aac p.H355N FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N NM_032511.2 NP_115900.1 Q5TGI0 CF168_HUMAN failed axon connections homolog (Drosophila) 355 AGCGGGGTGTGGGTTTTGCTG 0.473 5 74 --- --- --- --- RFX6 222546 broad.mit.edu 37 6 117250126 117250126 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:117250126C>A ENST00000332958.2 + 18 2619 c.2603C>A c.(2602-2604)cCa>cAa p.P868Q NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 868 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTCGAACTCCAGTCCTAGGT 0.393 5 82 --- --- --- --- SLC35F1 222553 broad.mit.edu 37 6 118588180 118588180 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:118588180C>A ENST00000360388.4 + 4 701 c.500C>A c.(499-501)cCa>cAa p.P167Q NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 167 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTTGTGATCCCAGTCGTGATT 0.483 9 354 --- --- --- --- FAM184A 79632 broad.mit.edu 37 6 119345262 119345262 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:119345262C>A ENST00000338891.7 - 2 1319 c.876G>T c.(874-876)caG>caT p.Q292H RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 292 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 CTTCTTGTCCCTGAAATTCTT 0.383 6 150 --- --- --- --- CLVS2 134829 broad.mit.edu 37 6 123319157 123319157 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:123319157C>A ENST00000275162.5 + 2 1570 c.235C>A c.(235-237)Cgg>Agg p.R79R CLVS2_ENST00000368438.1_Intron NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CTTTGAGTACCGGCAGCAGAA 0.557 5 154 --- --- --- --- ENPP1 5167 broad.mit.edu 37 6 132182820 132182820 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:132182820C>A ENST00000360971.2 + 9 1021 c.1001C>A c.(1000-1002)cCa>cAa p.P334Q NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 334 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GGAATTTTCCCAGACATCTAT 0.353 5 96 --- --- --- --- SGK1 6446 broad.mit.edu 37 6 134493334 134493334 + Silent SNP C C A rs139370799 byFrequency TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:134493334C>A ENST00000367858.5 - 10 1665 c.1068G>T c.(1066-1068)ccG>ccT p.P356P SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000237305.7_Silent_p.P261P NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 261 AGC-kinase C-terminal. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CGCCTACCTCCGGCGTGCCAC 0.483 5 206 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815150 137815150 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:137815150C>A ENST00000367734.2 - 1 381 c.158G>T c.(157-159)gGg>gTg p.G53V NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GAGGCTTTCCCCGGGCATCTT 0.617 7 139 --- --- --- --- TULP4 56995 broad.mit.edu 37 6 158873275 158873275 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:158873275C>A ENST00000367097.3 + 5 2191 c.834C>A c.(832-834)ccC>ccA p.P278P TULP4_ENST00000367094.2_Silent_p.P278P NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 278 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) ACTTGTCTCCCACGGTCATCC 0.552 5 63 --- --- --- --- PDE10A 10846 broad.mit.edu 37 6 165832169 165832169 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:165832169C>A ENST00000366882.1 - 12 1076 c.922G>T c.(922-924)Gag>Tag p.E308* PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318* Q9Y233 PDE10_HUMAN phosphodiesterase 10A 308 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCCTTTTCCTCTCCAATATCA 0.418 5 70 --- --- --- --- C6orf120 387263 broad.mit.edu 37 6 170102663 170102663 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr6:170102663C>A ENST00000332290.2 + 1 407 c.108C>A c.(106-108)ccC>ccA p.P36P C6orf120_ENST00000439249.1_Silent_p.P55P NM_001029863.1 NP_001025034.1 Q7Z4R8 CF120_HUMAN chromosome 6 open reading frame 120 36 extracellular region endometrium(1)|lung(2) 3 Breast(66;0.000338) OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015) AGGAGGTCCCCGAGGAGTGGG 0.692 4 34 --- --- --- --- NUDT1 4521 broad.mit.edu 37 7 2289565 2289565 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:2289565G>T ENST00000397049.1 + 4 397 c.295G>T c.(295-297)Ggc>Tgc p.G99C NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C NM_198948.1|NM_198949.1 NP_945186.1|NP_945187.1 P36639 8ODP_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 1 117 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding large_intestine(3)|lung(8)|urinary_tract(1) 12 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) TGAGTTCGTGGGCGAGCCTGA 0.657 Modulation of nucleotide pools 6 119 --- --- --- --- FOXK1 221937 broad.mit.edu 37 7 4780549 4780549 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:4780549C>A ENST00000328914.4 + 2 641 c.641C>A c.(640-642)cCg>cAg p.P214Q FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 214 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCAGCCTCCCCGCTGCGGCCA 0.647 5 198 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11675890 11675890 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:11675890G>T ENST00000423059.4 - 2 1140 c.889C>A c.(889-891)Cgc>Agc p.R297S NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane p.R297C(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATAAGCTCGCGGGCTTCTGGA 0.463 HNSCC(18;0.044) 6 212 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11676569 11676569 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:11676569C>A ENST00000423059.4 - 2 461 c.210G>T c.(208-210)atG>atT p.M70I THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A TSP type-1 1. integral to membrane p.M70I(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATTCATCTCCCATACATCGGC 0.463 HNSCC(18;0.044) 6 124 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21932083 21932083 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:21932083C>A ENST00000328843.6 + 78 12600 c.12569C>A c.(12568-12570)cCa>cAa p.P4190Q DNAH11_ENST00000409508.3_Missense_Mutation_p.P4183Q Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4190 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTGCTGCCCCACCCTACCTA 0.473 Kartagener syndrome 8 287 --- --- --- --- HOXA10 3206 broad.mit.edu 37 7 27211549 27211549 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:27211549C>A ENST00000283921.4 - 2 1201 c.1202G>T c.(1201-1203)cGg>cTg p.R401L HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 401 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 TGTGAGCTCCCGGATCCGGTT 0.512 4 101 --- --- --- --- GPR141 353345 broad.mit.edu 37 7 37780690 37780690 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:37780690G>T ENST00000447769.1 + 4 984 c.695G>T c.(694-696)gGg>gTg p.G232V GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 232 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTTTTTATAGGGGTCATCCTT 0.418 7 190 --- --- --- --- C7orf10 79783 broad.mit.edu 37 7 40789094 40789094 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:40789094C>A ENST00000309930.5 + 14 1274 c.1250C>A c.(1249-1251)cCa>cAa p.P417Q C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.P391Q NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 391 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 ATTTCCGTCCCAGGTCTGAAA 0.388 8 153 --- --- --- --- DDX56 54606 broad.mit.edu 37 7 44612250 44612250 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:44612250G>T ENST00000258772.5 - 4 583 c.477C>A c.(475-477)tcC>tcA p.S159S DDX56_ENST00000431640.1_Silent_p.S159S|DDX56_ENST00000485367.1_5'UTR NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 159 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 AAAGCTCCAGGGAGTCACGAA 0.512 7 173 --- --- --- --- ELN 2006 broad.mit.edu 37 7 73474269 73474269 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:73474269G>T ENST00000252034.7 + 23 1867 c.1468G>T c.(1468-1470)Ggt>Tgt p.G490C ELN_ENST00000320399.6_Missense_Mutation_p.G490C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 519 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TCCTGGTGTCGGTGTGGCTCC 0.602 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 8 283 --- --- --- --- GTF2I 2969 broad.mit.edu 37 7 74105415 74105415 + Missense_Mutation SNP G G T rs146598910 byFrequency TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:74105415G>T ENST00000324896.4 + 3 599 c.210G>T c.(208-210)aaG>aaT p.K70N GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 70 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 ATACCAGAAAGGATTTTCAAA 0.348 7 97 --- --- --- --- HIP1 3092 broad.mit.edu 37 7 75168701 75168701 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:75168701C>A ENST00000336926.6 - 30 3029 c.3003G>T c.(3001-3003)ctG>ctT p.L1001L HIP1_ENST00000434438.2_Silent_p.L950L NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 1001 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GAAGCTCTCCCAGTTTTTGAC 0.488 T PDGFRB CMML 7 373 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98569472 98569472 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:98569472C>A ENST00000359863.4 + 52 7931 c.7722C>A c.(7720-7722)ccC>ccA p.P2574P TRRAP_ENST00000355540.3_Silent_p.P2556P|TRRAP_ENST00000446306.3_Silent_p.P2556P NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2574 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.P2574P(1)|p.P2556P(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCAGCACGCCCAAAACCAAAG 0.463 9 287 --- --- --- --- TAF6 6878 broad.mit.edu 37 7 99706102 99706102 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:99706102C>A ENST00000344095.4 - 13 1871 c.1346G>T c.(1345-1347)cGg>cTg p.R449L AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 449 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAATTCTGCCCGATAGGCGTC 0.612 5 143 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281209 100281209 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:100281209C>A ENST00000275732.5 - 17 3225 c.2016G>T c.(2014-2016)caG>caT p.Q672H NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 672 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GAATTGGACCCTGAGTCGAAG 0.607 7 192 --- --- --- --- CUX1 1523 broad.mit.edu 37 7 101559501 101559501 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:101559501C>A ENST00000360264.3 + 2 190 c.170C>A c.(169-171)cCa>cAa p.P57Q CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P46Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 46 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AAGAACACTCCAGAGGTGAGG 0.537 5 77 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107399369 107399369 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:107399369C>A ENST00000440859.3 + 6 1689 c.1222C>A c.(1222-1224)Cca>Aca p.P408T CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 AGGACCTCCCCCACCTCAACA 0.517 7 185 --- --- --- --- MET 4233 broad.mit.edu 37 7 116339270 116339270 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:116339270C>A ENST00000397752.3 + 2 332 c.132C>A c.(130-132)ccC>ccA p.P44P MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000318493.6_Silent_p.P44P NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 44 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATCAGCTTCCCAACTTCACCG 0.448 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 6 102 --- --- --- --- ARF5 381 broad.mit.edu 37 7 127231036 127231036 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:127231036G>T ENST00000000233.5 + 5 504 c.350G>T c.(349-351)cGg>cTg p.R117L GCC1_ENST00000497650.1_Intron NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 117 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 GACGAGCTGCGGGATGCAGTG 0.582 6 147 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128481390 128481390 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:128481390C>A ENST00000325888.8 + 12 2241 c.1980C>A c.(1978-1980)ccC>ccA p.P660P FLNC_ENST00000346177.6_Silent_p.P660P NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 660 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACATCCTGCCCGCCCCACCTG 0.632 6 198 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140550013 140550013 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:140550013C>A ENST00000288602.6 - 2 199 c.e2-1 NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TATTCCACACCTAAAAAATAT 0.313 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 167 --- --- --- --- OR2A5 393046 broad.mit.edu 37 7 143748279 143748279 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:143748279C>A ENST00000408906.2 + 1 819 c.785C>A c.(784-786)cCc>cAc p.P262H NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TACATGGCCCCCAAGTCCCGC 0.572 6 135 --- --- --- --- GBX1 2636 broad.mit.edu 37 7 150846192 150846192 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:150846192C>A ENST00000297537.4 - 2 575 c.576G>T c.(574-576)ctG>ctT p.L192L NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 192 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGATGCCTCCAGCTTCTCCT 0.582 7 386 --- --- --- --- VIPR2 7434 broad.mit.edu 37 7 158851252 158851252 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:158851252C>A ENST00000262178.2 - 5 560 c.375G>T c.(373-375)ctG>ctT p.L125L VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 125 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TGGCCTTCACCAGAATATAAA 0.443 5 138 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1497602 1497602 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:1497602C>A ENST00000421627.2 + 2 877 c.743C>A c.(742-744)cCc>cAc p.P248H NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 327 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CACTGCTACCCCGACGCGCTG 0.672 7 149 --- --- --- --- CHRNA2 1135 broad.mit.edu 37 8 27327369 27327369 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:27327369C>A ENST00000407991.1 - 3 811 c.203G>T c.(202-204)cGg>cTg p.R68L CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.R68L NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 68 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.R68Q(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GTTGTAGCCCCGGAAGAGGTG 0.632 5 107 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61765453 61765453 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:61765453C>A ENST00000423902.2 + 31 6648 c.6169C>A c.(6169-6171)Cgc>Agc p.R2057S CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2057 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AACTCTGTACCGCATTGAGCT 0.562 5 180 --- --- --- --- MCMDC2 157777 broad.mit.edu 37 8 67809086 67809086 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:67809086C>A ENST00000422365.2 + 12 1689 c.1518C>A c.(1516-1518)ccC>ccA p.P506P MCMDC2_ENST00000313616.5_Silent_p.P506P|MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 506 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 AGTCATCTCCCTGCCACCCAT 0.423 7 236 --- --- --- --- SLCO5A1 81796 broad.mit.edu 37 8 70744881 70744881 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:70744881C>A ENST00000260126.4 - 2 734 c.28G>T c.(28-30)Ggg>Tgg p.G10W SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCTCCCGCCCCGGGCTGCAGT 0.617 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 98 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77616633 77616633 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:77616633C>A ENST00000521891.2 + 2 758 c.310C>A c.(310-312)Cgc>Agc p.R104S ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 104 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R104S(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCCTAATGCCCGCCTTCCTGT 0.502 HNSCC(33;0.089) 5 229 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733633 81733633 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:81733633G>T ENST00000327835.3 - 2 428 c.197C>A c.(196-198)tCc>tAc p.S66Y NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 66 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) ATCAATGTTGGAGGAAACAAC 0.448 9 270 --- --- --- --- KIAA1429 25962 broad.mit.edu 37 8 95565623 95565623 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:95565623G>T ENST00000297591.5 - 1 128 c.53C>A c.(52-54)cCg>cAg p.P18Q KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 18 mRNA processing|RNA splicing nucleus p.P18Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTCAGCGCTCGGGTGTTTAAA 0.537 6 189 --- --- --- --- PLEKHF2 79666 broad.mit.edu 37 8 96166912 96166912 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:96166912G>T ENST00000315367.3 + 2 881 c.640G>T c.(640-642)Ggg>Tgg p.G214W PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W NM_024613.3 NP_078889.1 Q9H8W4 PKHF2_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 2 214 transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) GCTTTCTGCTGGGGACATGGC 0.478 6 163 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103564170 103564170 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:103564170C>A ENST00000285402.3 + 1 371 c.215C>A c.(214-216)cCa>cAa p.P72Q NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 72 2 X 5 AA repeats of [RC]-C-L-C-D. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) GATCTCTACCCATGTTGCCTG 0.483 7 194 --- --- --- --- HAS2 3037 broad.mit.edu 37 8 122641020 122641020 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:122641020C>A ENST00000303924.4 - 2 1098 c.561G>T c.(559-561)tgG>tgT p.W187C NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 187 integral to plasma membrane hyaluronan synthase activity p.W187*(1)|p.W187C(1) HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTTTTCCACCCCATTTTTGCA 0.463 9 279 --- --- --- --- HAS2 3037 broad.mit.edu 37 8 122641109 122641109 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:122641109C>A ENST00000303924.4 - 2 1009 c.472G>T c.(472-474)Ggt>Tgt p.G158C NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 158 integral to plasma membrane hyaluronan synthase activity p.G158S(1) HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TCTGTCTCACCGGGACCCTTT 0.433 6 320 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124693518 124693518 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:124693518C>A ENST00000262219.6 - 12 1103 c.1036G>T c.(1036-1038)Ggg>Tgg p.G346W ANXA13_ENST00000419625.1_Missense_Mutation_p.G305W NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 305 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding p.G346W(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) CGGAAGTCCCCGGAGGTATCT 0.498 8 379 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 125094647 125094647 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:125094647C>A ENST00000522917.1 + 33 4545 c.4339C>A c.(4339-4341)Cgc>Agc p.R1447S FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1447 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCTGGAGAACCGCTTCTACAG 0.488 5 237 --- --- --- --- RNF139 11236 broad.mit.edu 37 8 125498995 125498995 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:125498995G>T ENST00000303545.3 + 2 1477 c.1105G>T c.(1105-1107)Gga>Tga p.G369* NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 369 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTTTATCCATGGAATGACAGA 0.413 7 389 --- --- --- --- TG 7038 broad.mit.edu 37 8 133909917 133909917 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:133909917C>A ENST00000220616.4 + 12 3065 c.3025C>A c.(3025-3027)Cgc>Agc p.R1009S TG_ENST00000377869.1_Missense_Mutation_p.R1009S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1009 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCAGAGACGCCGCTTTTCCCC 0.567 5 227 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144940861 144940861 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:144940861G>T ENST00000525985.1 - 2 6632 c.6561C>A c.(6559-6561)ctC>ctA p.L2187L P58107 EPIPL_HUMAN epiplakin 1 2187 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCTGAGCTGAGGAGTTCAG 0.537 9 357 --- --- --- --- EXOSC4 54512 broad.mit.edu 37 8 145134858 145134858 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:145134858C>A ENST00000316052.5 + 2 287 c.184C>A c.(184-186)Cgg>Agg p.R62R EXOSC4_ENST00000525936.1_Silent_p.R62R NM_019037.2 NP_061910.1 Q9NPD3 EXOS4_HUMAN exosome component 4 62 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding p.R62R(1) lung(4)|prostate(1)|upper_aerodigestive_tract(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGGGGCTCCCGGGCTCGAGC 0.612 6 216 --- --- --- --- UBAP2 55833 broad.mit.edu 37 9 33986767 33986767 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:33986767G>T ENST00000379238.1 - 6 628 c.511C>A c.(511-513)Cgg>Agg p.R171R UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Silent_p.R171R|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 171 p.R171R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CCTCTACCCCGGGCTCGCTTG 0.463 7 449 --- --- --- --- C9orf131 138724 broad.mit.edu 37 9 35043625 35043625 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:35043625C>A ENST00000312292.5 + 2 1046 c.999C>A c.(997-999)ccC>ccA p.P333P C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 333 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AAAAGATGCCCCAAGCTTTTG 0.542 10 362 --- --- --- --- C9orf131 138724 broad.mit.edu 37 9 35045210 35045210 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:35045210C>A ENST00000312292.5 + 2 2631 c.2584C>A c.(2584-2586)Cac>Aac p.H862N C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 862 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CCAGTCCTCCCACTGTCATCA 0.547 8 388 --- --- --- --- FRMPD1 22844 broad.mit.edu 37 9 37746737 37746737 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:37746737C>A ENST00000539465.1 + 16 5301 c.4708C>A c.(4708-4710)Cag>Aag p.Q1570K FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1570 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTGTTTGACCCAGAAGTTCCG 0.622 6 147 --- --- --- --- TRPM3 80036 broad.mit.edu 37 9 73235187 73235187 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:73235187G>T ENST00000377110.3 - 15 2141 c.1898C>A c.(1897-1899)cCc>cAc p.P633H TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P633H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GAAAGGGAAGGGGAAGTGGTT 0.522 7 197 --- --- --- --- PRUNE2 158471 broad.mit.edu 37 9 79252395 79252395 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:79252395G>T ENST00000428286.1 - 14 9028 c.7828C>A c.(7828-7830)Cca>Aca p.P2610T PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2968T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2968 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTCCTTCTTGGGGTTGCACCA 0.398 8 214 --- --- --- --- CTSL 1514 broad.mit.edu 37 9 90343536 90343536 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:90343536G>T ENST00000343150.5 + 5 1323 c.433G>T c.(433-435)Ggt>Tgt p.G145C CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.G145C cathepsin L TAGTGCTACTGGTGCTCTTGA 0.443 6 189 --- --- --- --- SPTLC1 10558 broad.mit.edu 37 9 94797094 94797094 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:94797094G>T ENST00000262554.2 - 14 1331 c.1326C>A c.(1324-1326)ccC>ccA p.P442P NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 442 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAACTGACCTGGGAGGAGGGA 0.388 6 153 --- --- --- --- FANCC 2176 broad.mit.edu 37 9 97873771 97873771 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:97873771C>A ENST00000289081.3 - 13 1557 c.1303G>T c.(1303-1305)Ggg>Tgg p.G435W FANCC_ENST00000375305.1_Missense_Mutation_p.G435W NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 435 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) TGCTGCCTCCCATCACGGGGG 0.632 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 130 --- --- --- --- COL15A1 1306 broad.mit.edu 37 9 101748233 101748233 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:101748233C>A ENST00000375001.3 + 3 910 c.487C>A c.(487-489)Cgc>Agc p.R163S NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 163 TSP N-terminal. R -> H (in dbSNP:rs2075662). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAGGTGGAACCGCTTCGCCAT 0.612 5 133 --- --- --- --- COL15A1 1306 broad.mit.edu 37 9 101785643 101785643 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:101785643G>T ENST00000375001.3 + 14 2189 c.1766G>T c.(1765-1767)gGa>gTa p.G589V NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 589 Nonhelical region 2 (NC2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TTCCAGGCAGGAGCAGAAGCA 0.547 25 43 --- --- --- --- TMEM245 23731 broad.mit.edu 37 9 111849550 111849550 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:111849550C>A ENST00000374586.3 - 6 1254 c.1223G>T c.(1222-1224)tGg>tTg p.W408L NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 408 integral to membrane TATAATGCCCCACCACACATG 0.423 6 103 --- --- --- --- SVEP1 79987 broad.mit.edu 37 9 113217947 113217947 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:113217947G>T ENST00000401783.2 - 22 4046 c.3710C>A c.(3709-3711)cCa>cAa p.P1237Q SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1237 EGF-like 2; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCAAGGCAGTGGGCTGCACTC 0.443 5 35 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117852972 117852972 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:117852972C>A ENST00000350763.4 - 2 737 c.326G>T c.(325-327)cGg>cTg p.R109L TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 109 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GCCACAGGCCCGGCGGGGGAT 0.587 7 429 --- --- --- --- HSPA5 3309 broad.mit.edu 37 9 127999063 127999063 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:127999063C>A ENST00000324460.6 - 8 1976 c.1773G>T c.(1771-1773)aaG>aaT p.K591N NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 591 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) CCATGGTCTCCTTATCTTCAG 0.393 Prostate(1;0.17) 6 131 --- --- --- --- LMX1B 4010 broad.mit.edu 37 9 129455528 129455528 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:129455528C>A ENST00000355497.5 + 4 674 c.667C>A c.(667-669)Cgg>Agg p.R223R LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000373474.4_Silent_p.R223R|LMX1B_ENST00000526117.1_Silent_p.R223R NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 200 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R223G(1)|p.R200G(1) endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 CAAGCGACCCCGGACCATCCT 0.682 Nail-Patella Syndrome 3 9 --- --- --- --- POMT1 10585 broad.mit.edu 37 9 134390831 134390831 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:134390831C>A ENST00000423007.1 + 13 1636 c.1194C>A c.(1192-1194)ccC>ccA p.P398P POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Silent_p.P420P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000404875.2_Silent_p.P281P NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 420 MIR 2. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TTGCAGCCCCCCTGAGCCCCC 0.502 6 109 --- --- --- --- LCN12 286256 broad.mit.edu 37 9 139847376 139847376 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:139847376G>T ENST00000371633.3 + 2 147 c.147G>T c.(145-147)gcG>gcT p.A49A NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 49 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) TGGGCCTGGCGGGCAACAGCT 0.647 6 211 --- --- --- --- AKR1C1 1645 broad.mit.edu 37 10 5014886 5014886 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:5014886G>T ENST00000380872.4 + 7 983 c.791G>T c.(790-792)gGg>gTg p.G264V AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 p.G264V(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 CTACAGCGTGGGGTTGTGGTC 0.602 6 95 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17151726 17151726 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:17151726C>A ENST00000377833.4 - 10 1089 c.1024G>T c.(1024-1026)Ggt>Tgt p.G342C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 342 EGF-like 4; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTCCGTCACCCTGGTACCCT 0.478 5 91 --- --- --- --- SLC39A12 221074 broad.mit.edu 37 10 18276493 18276493 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:18276493G>T ENST00000377369.2 + 7 1455 c.1182G>T c.(1180-1182)gaG>gaT p.E394D SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 394 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ATAGCTGTGAGGAGAACTACA 0.547 8 122 --- --- --- --- GPR158 57512 broad.mit.edu 37 10 25887349 25887349 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:25887349C>A ENST00000376351.3 + 11 3153 c.2794C>A c.(2794-2796)Cag>Aag p.Q932K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 932 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CACTAAATCCCAGAAACCTTT 0.443 7 214 --- --- --- --- ACBD5 91452 broad.mit.edu 37 10 27499963 27499963 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:27499963C>A ENST00000396271.3 - 9 1110 c.984G>T c.(982-984)ttG>ttT p.L328F ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.L337F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 337 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding p.L328F(1)|p.L293F(1) breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 AATGACCACCCAAGTAATACT 0.388 5 100 --- --- --- --- DNA2 1763 broad.mit.edu 37 10 70191661 70191661 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:70191661C>A ENST00000399180.2 - 13 2198 c.2199G>T c.(2197-2199)gtG>gtT p.V733V DNA2_ENST00000358410.3_Silent_p.V647V|DNA2_ENST00000399179.2_Silent_p.V647V P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 647 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 CAGGCATACCCACGATGAGTG 0.363 8 279 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81051939 81051939 + Silent SNP C C A rs78587165 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:81051939C>A ENST00000334512.5 + 11 1355 c.783C>A c.(781-783)ccC>ccA p.P261P ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 261 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTAACGCCCCCGCAGGCATGG 0.662 5 186 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88769144 88769144 + RNA SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:88769144C>A ENST00000444431.1 + 0 3744 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CCGCCTTTCCCGTGTGCGATC 0.527 6 342 --- --- --- --- HTR7 3363 broad.mit.edu 37 10 92508800 92508800 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:92508800C>A ENST00000371721.3 - 2 1333 c.1091G>T c.(1090-1092)tGg>tTg p.W364L HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000336152.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 364 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CCTCTCCACCCACAGTGGGAT 0.532 6 110 --- --- --- --- BTAF1 9044 broad.mit.edu 37 10 93741458 93741458 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:93741458C>A ENST00000265990.6 + 16 2122 c.1814C>A c.(1813-1815)cCa>cAa p.P605Q BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 605 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GCTGCTTGCCCATGGATGGGT 0.423 6 175 --- --- --- --- SLC35G1 159371 broad.mit.edu 37 10 95658490 95658490 + Missense_Mutation SNP C C A rs78174634 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:95658490C>A ENST00000371408.3 + 2 399 c.338C>A c.(337-339)cCt>cAt p.P113H SLC35G1_ENST00000427197.1_Missense_Mutation_p.P114H Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 114 DUF6 1. integral to membrane GTTGTTATCCCTTGCTTAATA 0.338 5 69 --- --- --- --- PLCE1 51196 broad.mit.edu 37 10 95987160 95987160 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:95987160G>T ENST00000371380.3 + 4 2142 c.1907G>T c.(1906-1908)tGg>tTg p.W636L PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAATGCTGCTGGAACATGGGC 0.517 6 178 --- --- --- --- PYROXD2 84795 broad.mit.edu 37 10 100154987 100154987 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:100154987C>A ENST00000370575.4 - 8 799 c.751G>T c.(751-753)Gga>Tga p.G251* PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 251 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GTCATGGCTCCAATCACTGCA 0.572 6 184 --- --- --- --- DCLRE1A 9937 broad.mit.edu 37 10 115609163 115609163 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:115609163G>T ENST00000361384.2 - 2 2618 c.1701C>A c.(1699-1701)ccC>ccA p.P567P DCLRE1A_ENST00000369305.1_Silent_p.P567P NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 567 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CCTTTCTTTTGGGAGGTAGTC 0.383 Other identified genes with known or suspected DNA repair function 6 150 --- --- --- --- DMBT1 1755 broad.mit.edu 37 10 124330412 124330412 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:124330412C>A ENST00000338354.3 + 4 252 c.146C>A c.(145-147)cCa>cAa p.P49Q DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 49 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAGGTTCTCCATTTCCCTCG 0.552 7 195 --- --- --- --- FAM175B 23172 broad.mit.edu 37 10 126490444 126490444 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:126490444C>A ENST00000298492.5 + 1 91 c.46C>A c.(46-48)Cac>Aac p.H16N NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 16 MPN-like. BRISC complex polyubiquitin binding NS(1) 1 TGTGTGTTTCCACAGCGCCAA 0.677 6 150 --- --- --- --- PTPRE 5791 broad.mit.edu 37 10 129867974 129867974 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:129867974G>T ENST00000254667.3 + 13 1305 c.1026G>T c.(1024-1026)acG>acT p.T342T PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 342 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TGGGCCGGACGGGCACCTTCA 0.577 OREG0020623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 217 --- --- --- --- C10orf91 170393 broad.mit.edu 37 10 134261403 134261403 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:134261403C>A ENST00000392630.3 + 3 337 c.276C>A c.(274-276)tcC>tcA p.S92S C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.S92S NM_173541.2 NP_775812.1 Q5T1B1 CJ091_HUMAN chromosome 10 open reading frame 91 92 endometrium(1)|kidney(1)|lung(1)|ovary(2) 5 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) CCCCTGCCTCCGGGCGCCCGC 0.667 6 220 --- --- --- --- LRRC56 115399 broad.mit.edu 37 11 550100 550100 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:550100C>A ENST00000270115.7 + 8 952 c.452C>A c.(451-453)tCg>tAg p.S151* NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 151 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) AACAACATCTCGGACCTGAGC 0.667 5 87 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1255481 1255481 + Silent SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:1255481G>A ENST00000447027.1 + 20 2491 c.2433G>A c.(2431-2433)gcG>gcA p.A811A MUC5B_ENST00000529681.1_Silent_p.A808A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 808 TIL 3. P -> L (in Ref. 2; AAC67545). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAGCTCGGCGGGCACCCCTG 0.692 6 16 --- --- --- --- SBF2 81846 broad.mit.edu 37 11 9868556 9868556 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:9868556G>T ENST00000256190.8 - 23 3018 c.2881C>A c.(2881-2883)Cag>Aag p.Q961K RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 961 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TGCTGTAGCTGGTTCTGCATT 0.413 7 179 --- --- --- --- F2 2147 broad.mit.edu 37 11 46750354 46750354 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:46750354C>A ENST00000311907.5 + 11 1495 c.1439C>A c.(1438-1440)cCt>cAt p.P480H F2_ENST00000530231.1_Intron NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 480 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TACATTCACCCTGTGTGTCTG 0.577 6 109 --- --- --- --- OR4D6 219983 broad.mit.edu 37 11 59225298 59225298 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:59225298C>A ENST00000300127.2 + 1 888 c.865C>A c.(865-867)Ctg>Atg p.L289M NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CATCTATTCCCTGAGAAATCA 0.512 6 157 --- --- --- --- MRPL16 54948 broad.mit.edu 37 11 59573832 59573832 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:59573832G>T ENST00000300151.4 - 4 957 c.744C>A c.(742-744)ccC>ccA p.P248P NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 248 rRNA binding central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 ACACACGTTTGGGCATGTAGA 0.473 7 233 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62295012 62295012 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:62295012C>A ENST00000378024.4 - 5 7151 c.6877G>T c.(6877-6879)Ggg>Tgg p.G2293W AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2293 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTCAGCTTCCCTTCTGGACCT 0.502 10 301 --- --- --- --- SLC22A8 9376 broad.mit.edu 37 11 62782166 62782166 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:62782166G>T ENST00000336232.2 - 2 400 c.265C>A c.(265-267)Cag>Aag p.Q89K SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_5'UTR NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 89 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 ATGGCCCTCTGGGTGTCATTG 0.597 7 195 --- --- --- --- NAA40 79829 broad.mit.edu 37 11 63721499 63721499 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:63721499C>A ENST00000377793.4 + 7 651 c.550C>A c.(550-552)Cag>Aag p.Q184K NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K|NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit 184 N-acetyltransferase. N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 TGGTGCCTACCAGTTCTTCAG 0.502 6 191 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65325189 65325189 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:65325189C>A ENST00000301873.5 - 1 510 c.242G>T c.(241-243)cGg>cTg p.R81L LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L|LTBP3_ENST00000536982.1_5'UTR NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 81 Gly-rich. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 ACAACTGTCCCGACACTGGCC 0.692 4 70 --- --- --- --- ADRBK1 156 broad.mit.edu 37 11 67051215 67051215 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:67051215C>A ENST00000308595.5 + 16 1656 c.1366C>A c.(1366-1368)Ctg>Atg p.L456M ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 456 AGC-kinase C-terminal. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TTTCCGCTCCCTGGACTGGCA 0.617 6 77 --- --- --- --- FGF3 2248 broad.mit.edu 37 11 69631132 69631132 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:69631132C>A ENST00000334134.2 - 2 370 c.280G>T c.(280-282)Ggg>Tgg p.G94W NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 94 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) AGGTACCGCCCGGAGAAGAGA 0.612 6 119 --- --- --- --- MMP1 4312 broad.mit.edu 37 11 102662178 102662178 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:102662178G>T ENST00000315274.6 - 8 1149 c.1082C>A c.(1081-1083)cCc>cAc p.P361H WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 361 Hemopexin-like 2. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GATGTCCTTGGGGTATCCGTG 0.448 7 259 --- --- --- --- USP28 57646 broad.mit.edu 37 11 113679043 113679043 + Missense_Mutation SNP C C A rs143699311 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:113679043C>A ENST00000003302.4 - 18 2349 c.2281G>T c.(2281-2283)Ggt>Tgt p.G761C USP28_ENST00000545540.1_Missense_Mutation_p.G636C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000544967.1_Missense_Mutation_p.G469C NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 761 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.G761S(1) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GCTTCTACACCGCTCTTCTCA 0.522 5 240 --- --- --- --- FOXR1 283150 broad.mit.edu 37 11 118851309 118851309 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:118851309G>T ENST00000317011.3 + 5 946 c.721G>T c.(721-723)Ggg>Tgg p.G241W NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 241 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CATGCAGGGCGGGGCCAGCAC 0.612 5 131 --- --- --- --- TRIM29 23650 broad.mit.edu 37 11 120008334 120008334 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:120008334G>T ENST00000341846.5 - 1 827 c.406C>A c.(406-408)Cgg>Agg p.R136R NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 136 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GTGGGCTTCCGGGACTCCGAG 0.657 6 196 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124747172 124747172 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:124747172C>A ENST00000397801.1 + 19 3005 c.2813C>A c.(2812-2814)cCg>cAg p.P938Q ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 938 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GTGTCCTTCCCGCACTCAGAG 0.617 6 120 --- --- --- --- RPUSD4 84881 broad.mit.edu 37 11 126079521 126079521 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:126079521C>A ENST00000298317.4 - 3 505 c.452G>T c.(451-453)cGg>cTg p.R151L RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RPUSD4_ENST00000534393.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 151 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CTTGTCCAGCCGGTGGCACAG 0.532 7 313 --- --- --- --- B4GALNT3 283358 broad.mit.edu 37 12 667678 667678 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:667678C>A ENST00000266383.5 + 18 2625 c.2612C>A c.(2611-2613)cCg>cAg p.P871Q NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 871 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCCCAGGACCCGCACAGCATC 0.587 5 194 --- --- --- --- NRIP2 83714 broad.mit.edu 37 12 2943848 2943848 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:2943848G>T ENST00000337508.4 - 1 342 c.302C>A c.(301-303)cCg>cAg p.P101Q NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 101 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCTGTCCAGCGGGAGCAGGTC 0.657 5 128 --- --- --- --- PHC1 1911 broad.mit.edu 37 12 9087015 9087015 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:9087015C>A ENST00000433083.2 + 9 2204 c.2059C>A c.(2059-2061)Cag>Aag p.Q687K PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000543824.1_Missense_Mutation_p.Q732K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 732 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CGTGAAGCCCCAGATTCTCAC 0.552 5 75 --- --- --- --- PZP 5858 broad.mit.edu 37 12 9346733 9346733 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:9346733C>A ENST00000261336.2 - 11 1222 c.1194G>T c.(1192-1194)caG>caT p.Q398H PZP_ENST00000381997.2_Missense_Mutation_p.Q267H NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GTGCAAGACCCTGCTCATTGG 0.413 6 135 --- --- --- --- LRMP 4033 broad.mit.edu 37 12 25243031 25243031 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:25243031G>T ENST00000354454.3 + 13 1335 c.506G>T c.(505-507)tGg>tTg p.W169L LRMP_ENST00000548766.1_Missense_Mutation_p.W169L|LRMP_ENST00000547044.1_Missense_Mutation_p.W169L NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 225 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AAGTGTGACTGGTTTACCTTG 0.398 7 99 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26816707 26816707 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:26816707C>A ENST00000381340.3 - 15 2040 c.1624G>T c.(1624-1626)Ggg>Tgg p.G542W NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 542 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CTTTGATCCCCCAGATCTTCA 0.463 8 337 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950650 27950650 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:27950650C>A ENST00000381271.2 + 3 1380 c.1069C>A c.(1069-1071)Cgg>Agg p.R357R NM_020782.1 NP_065833.1 kelch-like family member 42 TCTTTCAGACCGGAACATGAA 0.473 7 425 --- --- --- --- PTHLH 5744 broad.mit.edu 37 12 28116547 28116547 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:28116547G>T ENST00000535992.1 - 3 604 c.258C>A c.(256-258)ccC>ccA p.P86P PTHLH_ENST00000354417.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000545234.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P P12272 PTHR_HUMAN parathyroid hormone-like hormone 86 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) TCTTTGTGTTGGGAGAGGGCT 0.512 7 207 --- --- --- --- ALG10B 144245 broad.mit.edu 37 12 38712251 38712251 + Silent SNP C C A rs147946662 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:38712251C>A ENST00000308742.4 + 2 676 c.360C>A c.(358-360)ccC>ccA p.P120P ALG10B_ENST00000551464.1_Silent_p.P120P NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 120 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) AGGTACAACCCAGAAACAAGG 0.333 5 127 --- --- --- --- PCED1B 91523 broad.mit.edu 37 12 47629815 47629815 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:47629815C>A ENST00000546455.1 + 4 1700 c.969C>A c.(967-969)ccC>ccA p.P323P PCED1B_ENST00000432328.1_Silent_p.P323P PC-esterase domain containing 1B ctcctcctcccATTCTCCATC 0.602 7 160 --- --- --- --- DNAJC22 79962 broad.mit.edu 37 12 49742879 49742879 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:49742879C>A ENST00000549441.2 + 3 1428 c.224C>A c.(223-225)cCt>cAt p.P75H DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 75 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 GTGACACCCCCTCTGAGTCCC 0.557 6 126 --- --- --- --- DAZAP2 9802 broad.mit.edu 37 12 51636194 51636194 + Missense_Mutation SNP G G T rs11555475 byFrequency TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:51636194G>T ENST00000412716.3 + 4 1075 c.459G>T c.(457-459)aaG>aaT p.K153N DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W Q15038 DAZP2_HUMAN DAZ associated protein 2 153 WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 CTCAGCGGAAGGGGAACTTCT 0.542 9 257 --- --- --- --- KRT83 3889 broad.mit.edu 37 12 52710743 52710743 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:52710743C>A ENST00000293670.3 - 5 877 c.815G>T c.(814-816)cGg>cTg p.R272L NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 272 Linker 12.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GTTCAGGTCCCGGCTGTTGTC 0.562 5 149 --- --- --- --- IL23A 51561 broad.mit.edu 37 12 56733285 56733285 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:56733285C>A ENST00000228534.4 + 2 404 c.238C>A c.(238-240)Caa>Aaa p.Q80K NM_016584.2 NP_057668.1 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 80 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 5 CTGTGACCCCCAAGGACTCAG 0.507 4 35 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57857845 57857845 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:57857845C>A ENST00000228682.2 + 3 255 c.164C>A c.(163-165)cCa>cAa p.P55Q GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 55 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AGTTATGGGCCAGCCAGAGAG 0.567 6 186 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57920645 57920645 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:57920645C>A ENST00000355673.3 + 7 2073 c.1717C>A c.(1717-1719)Cct>Act p.P573T MBD6_ENST00000431731.2_Missense_Mutation_p.P573T NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 573 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ACAACCTCCCCCTGAGCCCCT 0.622 5 64 --- --- --- --- AVPR1A 552 broad.mit.edu 37 12 63543872 63543872 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:63543872C>A ENST00000299178.2 - 1 850 c.745G>T c.(745-747)Ggg>Tgg p.G249W NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 249 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.G249W(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GCCGTCTTCCCGCGGACGTTG 0.612 5 143 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64819661 64819661 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:64819661C>A ENST00000332707.5 + 15 2168 c.1639C>A c.(1639-1641)Ctg>Atg p.L547M NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 547 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GACGGCTTACCTGTTTTCTAG 0.348 10 244 --- --- --- --- ANKS1B 56899 broad.mit.edu 37 12 99145222 99145222 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:99145222C>A ENST00000547776.2 - 25 3582 c.3583G>T c.(3583-3585)Ggg>Tgg p.G1195W ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 1195 PID. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAGTGTCCCCCTTTTCTTGCT 0.473 6 122 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104107524 104107524 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:104107524G>T ENST00000388887.2 + 42 4719 c.4515G>T c.(4513-4515)acG>acT p.T1505T NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1505 EGF-like 12. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAGGCTACACGGGTGATGGCA 0.527 7 240 --- --- --- --- RFX4 5992 broad.mit.edu 37 12 107144484 107144484 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:107144484C>A ENST00000392842.1 + 17 2262 c.1848C>A c.(1846-1848)ccC>ccA p.P616P RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.P625P|RFX4_ENST00000229387.5_Silent_p.P522P NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 616 transcription, DNA-dependent nucleus DNA binding p.P616P(1)|p.P625P(1)|p.P522P(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ATCCTCACCCCATGCAGAGCC 0.507 7 209 --- --- --- --- C12orf23 90488 broad.mit.edu 37 12 107365136 107365136 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:107365136C>A ENST00000280756.4 + 4 736 c.318C>A c.(316-318)ccC>ccA p.P106P C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000547081.1_Silent_p.P106P NM_152261.2 NP_689474.1 Q8WUH6 CL023_HUMAN chromosome 12 open reading frame 23 106 integral to membrane endometrium(1)|lung(2) 3 ACAAAGTGCCCTTAACAGGAA 0.463 5 76 --- --- --- --- CRY1 1407 broad.mit.edu 37 12 107391132 107391132 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:107391132C>A ENST00000008527.5 - 10 2392 c.1525G>T c.(1525-1527)Ggg>Tgg p.G509W NM_004075.4 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 509 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding p.G509W(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 CCTCCATTCCCATTAGGATTA 0.343 7 221 --- --- --- --- CMKLR1 1240 broad.mit.edu 37 12 108685637 108685637 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:108685637C>A ENST00000312143.7 - 3 1466 c.1103G>T c.(1102-1104)aGg>aTg p.R368M CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 368 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.R366M(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GCCGGTCTCCCTCTCATTCAT 0.478 6 114 --- --- --- --- ATXN2 6311 broad.mit.edu 37 12 111893853 111893853 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:111893853G>T ENST00000377617.3 - 23 3885 c.3724C>A c.(3724-3726)Cac>Aac p.H1242N ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1242 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TGGGCCATGTGGGGTGGGTTG 0.512 7 232 --- --- --- --- MED13L 23389 broad.mit.edu 37 12 116435003 116435003 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:116435003G>T ENST00000281928.3 - 15 2808 c.2602C>A c.(2602-2604)Cca>Aca p.P868T NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 868 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AAAGATGGTGGAGTGGGAAAC 0.398 6 91 --- --- --- --- UNC119B 84747 broad.mit.edu 37 12 121154520 121154520 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:121154520C>A ENST00000344651.4 + 3 488 c.448C>A c.(448-450)Cgc>Agc p.R150S NM_001080533.1 NP_001074002.1 A6NIH7 U119B_HUMAN unc-119 homolog B (C. elegans) 150 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGCATTTCTCCGCCTCCGGAC 0.537 6 198 --- --- --- --- TCTN2 79867 broad.mit.edu 37 12 124171483 124171483 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr12:124171483G>T ENST00000303372.5 + 6 793 c.665G>T c.(664-666)gGg>gTg p.G222V TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 222 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGCTCTGCTGGGACGACGACA 0.527 9 277 --- --- --- --- FLT3 2322 broad.mit.edu 37 13 28610092 28610092 + Silent SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:28610092C>T ENST00000380982.4 - 11 1479 c.1398G>A c.(1396-1398)aaG>aaA p.K466K FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K P36888 FLT3_HUMAN fms-related tyrosine kinase 3 466 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTCTGAACACTTCTTCCAGG 0.423 """Mis, O""" """AML, ALL""" 8 296 --- --- --- --- PAN3 255967 broad.mit.edu 37 13 28840863 28840863 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:28840863G>T ENST00000399613.1 + 9 886 c.823G>T c.(823-825)Gag>Tag p.E275* PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000380958.3_Nonsense_Mutation_p.E475* Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 475 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGTTCCTACAGAGGTTGACAG 0.358 8 224 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36396952 36396952 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:36396952C>A ENST00000255448.4 - 11 1679 c.1468G>T c.(1468-1470)Ggg>Tgg p.G490W DCLK1_ENST00000360631.3_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 490 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TACAGCATCCCACTGGCGTCT 0.493 8 125 --- --- --- --- UTP14C 9724 broad.mit.edu 37 13 52603844 52603844 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:52603844G>T ENST00000521776.2 + 2 1637 c.904G>T c.(904-906)Ggg>Tgg p.G302W NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 302 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) CCAAAACAGTGGGAAATGGGC 0.443 6 120 --- --- --- --- SUGT1 10910 broad.mit.edu 37 13 53227224 53227224 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:53227224C>A ENST00000310528.8 + 2 137 c.82C>A c.(82-84)Cag>Aag p.Q28K SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q28K Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) CGAGGACCCCCAGGCGGCGTT 0.582 OREG0022432 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 180 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76415828 76415828 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:76415828G>T ENST00000357063.3 + 25 5156 c.3896G>T c.(3895-3897)tGg>tTg p.W1299L LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L|LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000321797.8_Missense_Mutation_p.W1014L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L Q8WWI1 LMO7_HUMAN LIM domain 7 1299 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CTTGCCACCTGGGAAGCTACC 0.507 6 151 --- --- --- --- OR11H4 390442 broad.mit.edu 37 14 20711366 20711366 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:20711366C>A ENST00000315409.2 + 1 469 c.416C>A c.(415-417)cCa>cAa p.P139Q NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATCTGCCACCCACTGCAGTAC 0.463 6 113 --- --- --- --- TTC5 91875 broad.mit.edu 37 14 20764556 20764556 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:20764556C>A ENST00000258821.3 - 6 745 c.689G>T c.(688-690)aGg>aTg p.R230M NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 230 DNA repair cytoplasm|nucleus binding endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) TACCGTCGCCCTGTTCAGATG 0.423 8 250 --- --- --- --- OSGEP 55644 broad.mit.edu 37 14 20922784 20922784 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:20922784C>A ENST00000206542.4 - 1 480 c.59G>T c.(58-60)cGg>cTg p.R20L OSGEP_ENST00000556252.1_5'UTR NM_017807.3 NP_060277.1 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 20 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) CTTGCCATCCCGCACCACGCC 0.632 5 127 --- --- --- --- RNASE2 6036 broad.mit.edu 37 14 21424072 21424072 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:21424072C>A ENST00000304625.2 + 2 232 c.142C>A c.(142-144)Cag>Aag p.Q48K NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 48 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TATGACCTCCCAGCAATGCAC 0.443 6 65 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23872637 23872637 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:23872637C>A ENST00000405093.3 - 10 888 c.818G>T c.(817-819)cGg>cTg p.R273L MYH6_ENST00000356287.3_Missense_Mutation_p.R273L NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 273 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GAAGATCACCCGGGACTTCTC 0.572 5 172 --- --- --- --- PSME2 5721 broad.mit.edu 37 14 24614267 24614267 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:24614267C>A ENST00000216802.5 - 6 999 c.360G>T c.(358-360)ctG>ctT p.L120L PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Splice_Site_p.L109L NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 120 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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) CCAGGCTTACCAGAATGCATT 0.502 7 239 --- --- --- --- TGM1 7051 broad.mit.edu 37 14 24731088 24731088 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:24731088C>A ENST00000206765.6 - 3 444 c.321G>T c.(319-321)gaG>gaT p.E107D TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 107 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTAGCATGCCCTCTGCAAGGA 0.577 5 81 --- --- --- --- NFATC4 4776 broad.mit.edu 37 14 24838791 24838791 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:24838791C>A ENST00000413692.2 + 3 520 c.376C>A c.(376-378)Cga>Aga p.R126R NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000556279.1_Silent_p.R95R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000250373.4_Silent_p.R63R|NFATC4_ENST00000422617.3_Silent_p.R51R NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 63 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CGGTATTCCCCGACCTCCACC 0.677 5 178 --- --- --- --- EAPP 55837 broad.mit.edu 37 14 34985607 34985607 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:34985607G>T ENST00000250454.3 - 6 848 c.767C>A c.(766-768)cCa>cAa p.P256Q NM_018453.3 NP_060923.2 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 256 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) GCACATGACTGGGTGATAGAT 0.453 7 226 --- --- --- --- KLHDC1 122773 broad.mit.edu 37 14 50199529 50199529 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:50199529C>A ENST00000359332.2 + 9 908 c.818C>A c.(817-819)cCa>cAa p.P273Q KLHDC1_ENST00000554512.1_3'UTR NM_172193.2 NP_751943.1 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 273 cytoplasm kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12 all_epithelial(31;0.00244)|Breast(41;0.00964) GATAATATCCCATTAAGTAAG 0.313 4 40 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75230236 75230236 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:75230236C>A ENST00000325680.7 + 1 168 c.44C>A c.(43-45)cCg>cAg p.P15Q YLPM1_ENST00000552421.1_Missense_Mutation_p.P15Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 15 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGCCACTATCCGCCGCCACCG 0.701 3 21 --- --- --- --- POMT2 29954 broad.mit.edu 37 14 77751965 77751965 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:77751965C>A ENST00000261534.4 - 13 1545 c.1343G>T c.(1342-1344)gGg>gTg p.G448V NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 448 MIR 2. protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding p.G448V(1) breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) ATTTGAGTCCCCTGTTCCATT 0.438 11 659 --- --- --- --- GTF2A1 2957 broad.mit.edu 37 14 81658967 81658967 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:81658967C>A ENST00000553612.1 - 7 1232 c.829G>T c.(829-831)Ggg>Tgg p.G277W GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W NM_001278940.1|NM_015859.3 NP_001265869.1|NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 277 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(234;0.0287) GATGTATCCCCAGTTCCATCA 0.483 8 130 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105419316 105419316 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:105419316C>A ENST00000333244.5 - 7 2591 c.2472G>T c.(2470-2472)aaG>aaT p.K824N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 824 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGTCACCTCCTTGTCGGCCA 0.592 9 377 --- --- --- --- IGHG2 3501 broad.mit.edu 37 14 106109863 106109863 + RNA SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:106109863C>A ENST00000390545.2 - 0 658 CGGGGCTGCCCTGTAGGGACA 0.652 8 339 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25438468 25438468 + RNA SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:25438468G>T ENST00000424208.1 + 0 1327 SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA NR_003305.1 GCCCTGAGTTGGGTCGATGAT 0.527 7 285 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28473497 28473497 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:28473497C>A ENST00000261609.7 - 35 5439 c.5331G>T c.(5329-5331)ctG>ctT p.L1777L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1777 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGATGGTCCCCAGGCTCGGTC 0.567 5 56 --- --- --- --- MAPKBP1 23005 broad.mit.edu 37 15 42107849 42107849 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:42107849G>T ENST00000457542.2 + 12 1631 c.1345G>T c.(1345-1347)Ggg>Tgg p.G449W MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G455W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 455 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CTATGTGGATGGGAACACCCA 0.557 4 27 --- --- --- --- GANC 2595 broad.mit.edu 37 15 42641676 42641676 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:42641676C>A ENST00000318010.8 + 22 2754 c.2514C>A c.(2512-2514)tcC>tcA p.S838S CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 838 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) CATTCTGTTCCAGTGTTCTGA 0.393 5 119 --- --- --- --- UBR1 197131 broad.mit.edu 37 15 43328436 43328436 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:43328436C>A ENST00000290650.4 - 19 2208 c.2130G>T c.(2128-2130)ctG>ctT p.L710L UBR1_ENST00000382177.2_Silent_p.L710L NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 710 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TCTGAAGTACCAGTAACAAGA 0.338 7 300 --- --- --- --- TP53BP1 7158 broad.mit.edu 37 15 43712632 43712632 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:43712632C>A ENST00000263801.3 - 21 4789 c.4537G>T c.(4537-4539)Ggg>Tgg p.G1513W TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1513 Interaction with dimethylated histone H4. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TTATACTTCCCAGCTCCGACA 0.483 Other conserved DNA damage response genes 7 341 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48717950 48717950 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:48717950C>A ENST00000316623.5 - 59 7771 c.7316G>T c.(7315-7317)gGg>gTg p.G2439V NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2439 EGF-like 41; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACAGGAAGTCCCAGTTATATC 0.363 6 74 --- --- --- --- OAZ2 4947 broad.mit.edu 37 15 64982648 64982648 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:64982648C>A ENST00000326005.6 - 4 510 c.278G>T c.(277-279)tGg>tTg p.W93L OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR O95190 OAZ2_HUMAN ornithine decarboxylase antizyme 2 93 polyamine metabolic process|regulation of cellular amino acid metabolic process cytosol|nucleus ornithine decarboxylase inhibitor activity|protein binding L-Ornithine(DB00129) GACTGCATCCCAAGAAGAGAC 0.517 7 196 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65917307 65917307 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:65917307G>T ENST00000261892.6 + 2 1176 c.889G>T c.(889-891)Ggg>Tgg p.G297W SLC24A1_ENST00000339868.6_Missense_Mutation_p.G297W|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G297W|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G297W NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 297 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCATCCCTGGGGGTTAGTGGG 0.537 6 122 --- --- --- --- FEM1B 10116 broad.mit.edu 37 15 68582486 68582486 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:68582486C>A ENST00000306917.4 + 2 1405 c.790C>A c.(790-792)Cgt>Agt p.R264S NM_015322.4 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 264 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TGCAAATGACCGTGAGAACTA 0.418 7 177 --- --- --- --- PARP6 56965 broad.mit.edu 37 15 72552964 72552964 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:72552964C>A ENST00000569795.1 - 10 1298 c.611G>T c.(610-612)cGg>cTg p.R204L PARP6_ENST00000287196.9_Missense_Mutation_p.R204L|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 204 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 GCGCCCAACCCGAAGCTCTGG 0.532 8 557 --- --- --- --- BBS4 585 broad.mit.edu 37 15 73028174 73028174 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:73028174C>A ENST00000268057.4 + 14 1156 c.1115C>A c.(1114-1116)cCt>cAt p.P372H BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 372 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 AGGTGTAACCCTTTAGTAAAC 0.463 Bardet-Biedl syndrome 7 232 --- --- --- --- ARNT2 9915 broad.mit.edu 37 15 80866543 80866543 + Silent SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:80866543A>T ENST00000533983.1 + 14 1677 c.1338A>T c.(1336-1338)tcA>tcT p.S446S ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 457 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) ATGGATTGTCATCGTATGACT 0.483 29 58 --- --- --- --- TMC3 342125 broad.mit.edu 37 15 81625417 81625417 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:81625417G>T ENST00000558726.1 - 22 2784 c.2649C>A c.(2647-2649)ccC>ccA p.P883P RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.P882P Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 882 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TGGGGGCGTGGGGCCTGGGAC 0.468 6 121 --- --- --- --- C15orf40 123207 broad.mit.edu 37 15 83674445 83674445 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:83674445C>A ENST00000304177.5 - 4 400 c.e4-1 RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000513601.2_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site NM_001160114.1|NM_144597.2 NP_001153586.1|NP_653198.2 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 large_intestine(3)|lung(2)|skin(1) 6 ATTTACCACCCTGGACCAAAA 0.393 8 462 --- --- --- --- ITFG3 83986 broad.mit.edu 37 16 304439 304439 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:304439C>A ENST00000399932.3 + 3 478 c.27C>A c.(25-27)gcC>gcA p.A9A ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A NM_001284497.1 NP_001271426.1 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 9 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) ACTTAGAGGCCGAAATCCACC 0.493 OREG0003695 type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 233 --- --- --- --- METRN 79006 broad.mit.edu 37 16 767145 767145 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:767145C>A ENST00000568223.2 + 4 815 c.640C>A c.(640-642)Cgt>Agt p.R214S METRN_ENST00000568415.1_Missense_Mutation_p.R81S NM_024042.2 NP_076947.1 Q9UJH8 METRN_HUMAN meteorin, glial cell differentiation regulator 214 skin(1) 1 Hepatocellular(780;0.00335) GGTGGCCGCCCGTGTCCTCCG 0.662 3 12 --- --- --- --- IFT140 9742 broad.mit.edu 37 16 1570280 1570280 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:1570280C>A ENST00000426508.2 - 28 4088 c.3725G>T c.(3724-3726)aGg>aTg p.R1242M IFT140_ENST00000361339.5_Missense_Mutation_p.R436M NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1242 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TTCCTTCTGCCTGGACACGCT 0.567 6 153 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2813480 2813480 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:2813480C>A ENST00000301740.8 + 11 3500 c.2951C>A c.(2950-2952)cCg>cAg p.P984Q NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 984 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCTGAAACACCGCCAAGACAA 0.488 5 201 --- --- --- --- SEPT12 124404 broad.mit.edu 37 16 4829717 4829717 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:4829717C>A ENST00000268231.8 - 8 1060 c.797G>T c.(796-798)cGg>cTg p.R266L SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 266 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity p.R266Q(1) NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 CTTGGTCTTCCGGCCCAGGAC 0.602 5 135 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18823153 18823153 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:18823153C>A ENST00000446231.2 - 62 11250 c.10838G>T c.(10837-10839)tGg>tTg p.W3613L SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3613 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 CACTCTCTTCCACACACTCAC 0.418 9 499 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19063038 19063038 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:19063038C>A ENST00000421369.3 + 13 1999 c.1441C>A c.(1441-1443)Ccc>Acc p.P481T TMC7_ENST00000304381.5_Missense_Mutation_p.P591T|TMC7_ENST00000569532.1_Missense_Mutation_p.P591T NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 591 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CAGACCCTCCCCCAGGCCGTT 0.413 7 142 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27474868 27474868 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:27474868C>A ENST00000356183.4 - 35 5933 c.5918G>T c.(5917-5919)cGg>cTg p.R1973L GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1973 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CCACCTTTCCCGTGCTGCCTG 0.582 6 189 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28847439 28847439 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:28847439C>A ENST00000336783.4 + 22 3248 c.3081C>A c.(3079-3081)ccC>ccA p.P1027P ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1027 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCGGACACCCCCAAGGTGAGC 0.632 6 117 --- --- --- --- SPN 6693 broad.mit.edu 37 16 29675312 29675312 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:29675312C>A ENST00000360121.3 + 2 355 c.263C>A c.(262-264)cCt>cAt p.P88H SPN_ENST00000395389.2_Missense_Mutation_p.P88H NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 88 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 ACTGGTTCCCCTTTACCTGAG 0.542 6 135 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30735154 30735154 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:30735154C>A ENST00000262518.4 + 25 4794 c.4409C>A c.(4408-4410)cCa>cAa p.P1470Q SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1470 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCTTCGGGCCCAGCTCTGTTG 0.612 6 170 --- --- --- --- VKORC1 79001 broad.mit.edu 37 16 31105608 31105608 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:31105608C>A ENST00000394971.3 - 1 262 c.215G>T c.(214-216)cGg>cTg p.R72L VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000354895.4_Intron Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 0 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) CCTGCCTCCCCGCCTTTCCTG 0.617 9 245 --- --- --- --- NETO2 81831 broad.mit.edu 37 16 47165907 47165907 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:47165907C>A ENST00000562435.1 - 2 448 c.64G>T c.(64-66)Ggg>Tgg p.G22W NETO2_ENST00000303155.5_Missense_Mutation_p.G22W NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 22 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) ACGGCAATCCCTTCCACTACC 0.338 HNSCC(25;0.065) 8 288 --- --- --- --- MMP2 4313 broad.mit.edu 37 16 55525775 55525775 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:55525775C>A ENST00000219070.4 + 8 1752 c.1243C>A c.(1243-1245)Caa>Aaa p.Q415K MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K|MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 415 Collagenase-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GGAGCACTCCCAAGACCCTGG 0.582 5 90 --- --- --- --- CES1 1066 broad.mit.edu 37 16 55844530 55844530 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:55844530C>A ENST00000422046.2 - 11 1492 c.1211G>T c.(1210-1212)gGa>gTa p.G404V CES1_ENST00000361503.4_Missense_Mutation_p.G405V|CES1_ENST00000360526.3_Missense_Mutation_p.G406V P23141 EST1_HUMAN carboxylesterase 1 405 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GTCTGTTCCTCCTAAGTATTT 0.483 7 171 --- --- --- --- AMFR 267 broad.mit.edu 37 16 56423201 56423201 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:56423201C>A ENST00000290649.5 - 9 1382 c.1172G>T c.(1171-1173)aGg>aTg p.R391M NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 391 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 ATGTTCTTCCCTGACACGATT 0.458 6 111 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57752294 57752294 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:57752294G>T ENST00000360716.3 + 9 1334 c.1113G>T c.(1111-1113)tgG>tgT p.W371C CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C|CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C Q8IY82 CC135_HUMAN coiled-coil domain containing 135 371 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CTGTGAGATGGGAGTACATGC 0.527 8 172 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66426285 66426285 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:66426285G>T ENST00000563425.2 + 6 1329 c.1216G>T c.(1216-1218)Ggg>Tgg p.G406W CDH5_ENST00000341529.3_Splice_Site_p.G406* P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 406 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GCATAGCATTGGGTAAGGGGG 0.557 6 120 --- --- --- --- TPPP3 51673 broad.mit.edu 37 16 67424507 67424507 + Nonsense_Mutation SNP C C A rs11552321 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:67424507C>A ENST00000564104.1 - 2 1058 c.217G>T c.(217-219)Gag>Tag p.E73* TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*|TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73* Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 73 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TTGAACTCCTCATAGTTGATG 0.552 7 230 --- --- --- --- SLC12A4 6560 broad.mit.edu 37 16 67980429 67980429 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:67980429C>A ENST00000422611.2 - 17 2394 c.2355G>T c.(2353-2355)ctG>ctT p.L785L SLC12A4_ENST00000316341.3_Silent_p.L783L|SLC12A4_ENST00000572037.1_Silent_p.L735L|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Silent_p.L783L|SLC12A4_ENST00000537830.2_Silent_p.L777L NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 783 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCATGCCTCCCAGGCCACAGG 0.627 5 93 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68713813 68713813 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:68713813T>C ENST00000264012.4 + 7 1347 c.803T>C c.(802-804)cTc>cCc p.L268P CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 268 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CCACACGACCTCATGTTCACC 0.552 4 98 --- --- --- --- AARS 16 broad.mit.edu 37 16 70303597 70303597 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:70303597G>T ENST00000261772.8 - 7 1029 c.886C>A c.(886-888)Cgg>Agg p.R296R NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 296 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GCCAGCACCCGGTAGGCCATG 0.587 6 213 --- --- --- --- WWOX 51741 broad.mit.edu 37 16 78466600 78466600 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:78466600G>T ENST00000566780.1 + 8 1373 c.1007G>T c.(1006-1008)tGg>tTg p.W336L WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron NM_016373.2 NP_057457.1 Q9NZC7 WWOX_HUMAN WW domain containing oxidoreductase 336 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 7 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) CGCAGCTGGTGGGTGTACACA 0.552 8 273 --- --- --- --- KLHDC4 54758 broad.mit.edu 37 16 87782413 87782413 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:87782413C>A ENST00000270583.5 - 5 430 c.372G>T c.(370-372)gcG>gcT p.A124A KLHDC4_ENST00000347925.5_Silent_p.A124A|KLHDC4_ENST00000353170.5_Silent_p.A67A NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 124 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GCACTACCACCGCCTGTGAAA 0.577 6 169 --- --- --- --- SLC7A5 8140 broad.mit.edu 37 16 87874706 87874706 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:87874706C>A ENST00000261622.4 - 3 785 c.720G>T c.(718-720)gtG>gtT p.V240V SLC7A5_ENST00000565644.1_5'UTR NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 240 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) CAATGTTCCCCACATCCAGTT 0.517 6 90 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89348394 89348394 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:89348394C>A ENST00000301030.4 - 9 5016 c.4556G>T c.(4555-4557)aGg>aTg p.R1519M ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1519 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCCCTCGTCCCTGGACTTGTC 0.612 6 91 --- --- --- --- FANCA 2175 broad.mit.edu 37 16 89806480 89806480 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:89806480G>T ENST00000389301.3 - 39 3886 c.3856C>A c.(3856-3858)Cac>Aac p.H1286N FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1286 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCACAAACGTGGAAAGCCTTT 0.542 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 297 --- --- --- --- GEMIN4 50628 broad.mit.edu 37 17 649429 649429 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:649429G>T ENST00000576778.1 - 1 3162 c.1821C>A c.(1819-1821)ccC>ccA p.P607P GEMIN4_ENST00000319004.5_Silent_p.P618P P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 618 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TTTCTTCCTTGGGTGTAGAGA 0.507 8 161 --- --- --- --- TUSC5 286753 broad.mit.edu 37 17 1198824 1198824 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:1198824C>A ENST00000333813.3 + 2 766 c.427C>A c.(427-429)Cgg>Agg p.R143R NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 143 response to biotic stimulus integral to membrane p.R143W(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGACGGCGCCCGGAGGCTGGG 0.622 6 172 --- --- --- --- METTL16 79066 broad.mit.edu 37 17 2323643 2323643 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:2323643C>A ENST00000263092.6 - 10 1437 c.1310G>T c.(1309-1311)cGg>cTg p.R437L METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 CTCGCCTTCCCGCAGAGCAGG 0.647 6 175 --- --- --- --- OR1A1 8383 broad.mit.edu 37 17 3119035 3119035 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:3119035G>T ENST00000304094.1 + 1 121 c.121G>T c.(121-123)Gga>Tga p.G41* NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CACATTGATTGGAAACCTGCT 0.458 7 253 --- --- --- --- PLD2 5338 broad.mit.edu 37 17 4713047 4713047 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:4713047C>A ENST00000263088.6 + 8 807 c.676C>A c.(676-678)Cga>Aga p.R226R PLD2_ENST00000572940.1_Silent_p.R226R NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 226 PH. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) CTGCTGTGGCCGAGACCAAGT 0.597 5 157 --- --- --- --- SAT2 112483 broad.mit.edu 37 17 7530473 7530473 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:7530473C>A ENST00000269298.5 - 3 409 c.190G>T c.(190-192)Ggg>Tgg p.G64W SAT2_ENST00000380466.2_5'UTR|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron NM_133491.3 NP_597998.1 Q96F10 SAT2_HUMAN spermidine/spermine N1-acetyltransferase family member 2 64 N-acetyltransferase. cytoplasm diamine N-acetyltransferase activity p.?(1) kidney(1)|large_intestine(2) 3 READ - Rectum adenocarcinoma(115;0.166) Spermine(DB00127) AGTAGCTTCCCGGGCGCTGGA 0.547 5 94 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7696466 7696466 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:7696466C>A ENST00000572933.1 + 48 8972 c.7512C>A c.(7510-7512)ctC>ctA p.L2504L DNAH2_ENST00000389173.2_Silent_p.L2504L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2504 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGATCCGCCTCTGGATTGACT 0.517 5 88 --- --- --- --- GLP2R 9340 broad.mit.edu 37 17 9757884 9757884 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:9757884C>A ENST00000262441.5 + 5 1090 c.577C>A c.(577-579)Ctc>Atc p.L193I GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 193 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TCTTATCTCCCTCTTCCTGGC 0.512 8 345 --- --- --- --- MYH8 4626 broad.mit.edu 37 17 10295964 10295964 + Splice_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:10295964C>A ENST00000403437.2 - 38 5558 c.e38-1 RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTCACGTACCTGCAGCCAAG 0.478 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 168 --- --- --- --- SMCR8 140775 broad.mit.edu 37 17 18219210 18219210 + Missense_Mutation SNP C C A rs147939354 byFrequency TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:18219210C>A ENST00000406438.3 + 1 587 c.107C>A c.(106-108)cCc>cAc p.P36H NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 36 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 CCGCTCTTCCCCTTCGCCAGT 0.567 6 79 --- --- --- --- SPAG5 10615 broad.mit.edu 37 17 26910636 26910636 + Nonsense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:26910636G>A ENST00000321765.5 - 15 2910 c.2578C>T c.(2578-2580)Cag>Tag p.Q860* NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 860 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TCTTGCTCCTGGTTATCTGCT 0.468 4 107 --- --- --- --- TLCD1 116238 broad.mit.edu 37 17 27051565 27051565 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:27051565G>T ENST00000292090.3 - 4 817 c.707C>A c.(706-708)cCc>cAc p.P236H TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H NM_138463.3 NP_612472.1 Q96CP7 TLCD1_HUMAN TLC domain containing 1 236 integral to membrane breast(2)|endometrium(1)|kidney(2)|lung(2) 7 Lung NSC(42;0.00431) TTGCTTCTTGGGGACATGCTC 0.527 7 184 --- --- --- --- MRM1 79922 broad.mit.edu 37 17 34958334 34958334 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:34958334G>T ENST00000250156.7 + 1 334 c.95G>T c.(94-96)gGg>gTg p.G32V NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 32 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CGGCCTGGTGGGGAGGAGCTA 0.677 6 106 --- --- --- --- MRM1 79922 broad.mit.edu 37 17 34964758 34964758 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:34964758C>A ENST00000250156.7 + 5 1208 c.969C>A c.(967-969)ccC>ccA p.P323P MRM1_ENST00000585770.1_Silent_p.P128P NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 323 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCCAAGACCCCCAAGAACCCT 0.567 7 157 --- --- --- --- MLLT6 4302 broad.mit.edu 37 17 36865473 36865473 + Silent SNP G G T rs144559323 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:36865473G>T ENST00000325718.7 + 5 493 c.402G>T c.(400-402)tcG>tcT p.S134S MLLT6_ENST00000378137.5_Silent_p.S134S NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 134 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding p.S134S(1) breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) AGGCGGCCTCGGGAGCCTGCA 0.642 T MLL AL 8 278 --- --- --- --- KRT13 3860 broad.mit.edu 37 17 39659272 39659272 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:39659272G>T ENST00000246635.3 - 4 860 c.814C>A c.(814-816)Cgc>Agc p.R272S KRT13_ENST00000336861.3_Missense_Mutation_p.R272S|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S NM_153490.2 NP_705694 P13646 K1C13_HUMAN keratin 13 272 Linker 12.|Rod. epidermis development intermediate filament structural molecule activity p.R272S(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GCCAGCACGCGGGTCAGGTCA 0.602 6 329 --- --- --- --- STAT3 6774 broad.mit.edu 37 17 40481454 40481454 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:40481454C>A ENST00000264657.5 - 14 1567 c.1255G>T c.(1255-1257)Ggg>Tgg p.G419W STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 419 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CCCCCATTCCCACATCTCTGC 0.522 Hyperimmunoglobulin E Recurrent Infection Syndrome 8 325 --- --- --- --- TUBG1 7283 broad.mit.edu 37 17 40764504 40764504 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:40764504C>A ENST00000251413.3 + 5 521 c.459C>A c.(457-459)ctC>ctA p.L153L NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 153 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GTTCCTACCTCTTAGAACGGC 0.517 6 160 --- --- --- --- BRCA1 672 broad.mit.edu 37 17 41246133 41246133 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:41246133G>T ENST00000309486.4 - 9 1554 c.527C>A c.(526-528)cCc>cAc p.P176H BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H|BRCA1_ENST00000357654.3_Missense_Mutation_p.P472H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 472 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTTAAGTTGGGGAGGCTTGC 0.358 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 7 149 --- --- --- --- PPP1R9B 84687 broad.mit.edu 37 17 48216821 48216821 + Silent SNP G G T rs72840637 by1000genomes TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:48216821G>T ENST00000316878.6 - 8 1988 c.1986C>A c.(1984-1986)ccC>ccA p.P662P AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 662 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity p.P661P(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 CCAGCTTCTCGGGCTCCATGT 0.632 6 216 --- --- --- --- PPP1R9B 84687 broad.mit.edu 37 17 48221049 48221049 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:48221049C>A ENST00000316878.6 - 5 1535 c.1533G>T c.(1531-1533)atG>atT p.M511I AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 511 Interacts with RGS2 (By similarity).|PDZ. cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 CCCCGGCGCCCATGCCGATGA 0.632 7 113 --- --- --- --- C17orf47 284083 broad.mit.edu 37 17 56619235 56619235 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:56619235C>A ENST00000321691.3 - 2 1835 c.1654G>T c.(1654-1656)Ggg>Tgg p.G552W RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 552 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTGTCCTCCCATCCCCCAAG 0.488 6 158 --- --- --- --- CA4 762 broad.mit.edu 37 17 58236707 58236707 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:58236707G>T ENST00000300900.4 + 8 960 c.861G>T c.(859-861)ccG>ccT p.P287P NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 287 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCGGGGCCCCGGGTCGGCCGC 0.662 4 11 --- --- --- --- USP32 84669 broad.mit.edu 37 17 58422902 58422902 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:58422902C>A ENST00000300896.4 - 2 320 c.126G>T c.(124-126)atG>atT p.M42I USP32_ENST00000393003.3_Missense_Mutation_p.M42I NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 42 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AGTGCTGGCCCATGTAATATG 0.438 5 78 --- --- --- --- EVPL 2125 broad.mit.edu 37 17 74003831 74003831 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:74003831C>A ENST00000301607.3 - 22 5708 c.5455G>T c.(5455-5457)Ggg>Tgg p.G1819W EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1819 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCACCGAGCCCGAGAGAGAAG 0.597 5 166 --- --- --- --- ST6GALNAC1 55808 broad.mit.edu 37 17 74622831 74622831 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:74622831C>A ENST00000156626.7 - 5 1412 c.1213G>T c.(1213-1215)Ggg>Tgg p.G405W NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 405 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GTCCGAGTCCCCACATCCTGT 0.522 8 291 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77808663 77808663 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:77808663C>A ENST00000269397.4 - 5 955 c.778G>T c.(778-780)Gga>Tga p.G260* NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 260 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) ACGATGCGTCCGTTCTTGTTC 0.592 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 340 --- --- --- --- SLC25A10 1468 broad.mit.edu 37 17 79682751 79682751 + Silent SNP C C A rs141437548 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:79682751C>A ENST00000331531.5 + 4 477 c.357C>A c.(355-357)ccC>ccA p.P119P SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000571730.1_Silent_p.P274P|SLC25A10_ENST00000350690.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 119 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGGGGACGCCCGCAGACTTGG 0.657 6 139 --- --- --- --- HEXDC 284004 broad.mit.edu 37 17 80399061 80399061 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:80399061C>A ENST00000337014.6 + 10 1645 c.1171C>A c.(1171-1173)Ctg>Atg p.L391M HEXDC_ENST00000327949.9_Missense_Mutation_p.P361H|HEXDC_ENST00000577944.1_Silent_p.P363P NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 0 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GGCTCCTTCCCTGGCAGCAAC 0.657 6 126 --- --- --- --- PPP4R1 9989 broad.mit.edu 37 18 9570166 9570166 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:9570166G>T ENST00000400556.3 - 11 1635 c.1562C>A c.(1561-1563)cCa>cAa p.P521Q PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 521 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TTTAACATCTGGATCATCAAT 0.353 5 100 --- --- --- --- ESCO1 114799 broad.mit.edu 37 18 19154035 19154035 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:19154035G>T ENST00000269214.5 - 4 1707 c.770C>A c.(769-771)cCg>cAg p.P257Q NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 257 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding p.P257Q(1) breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 ATTCTTTTTCGGGACCACTGA 0.413 7 327 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19780663 19780663 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:19780663C>A ENST00000269216.3 + 7 1942 c.1665C>A c.(1663-1665)ccC>ccA p.P555P RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 555 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCACCAATCCCGAGAACAGCG 0.607 5 134 --- --- --- --- DSG4 147409 broad.mit.edu 37 18 28993143 28993143 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:28993143G>T ENST00000359747.4 + 15 2794 c.2765G>T c.(2764-2766)gGg>gTg p.G922V DSG4_ENST00000308128.4_Missense_Mutation_p.G903V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 903 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTGGTCCATGGGGATATTATT 0.423 6 138 --- --- --- --- ST8SIA5 29906 broad.mit.edu 37 18 44260212 44260212 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:44260212C>A ENST00000315087.7 - 7 1584 c.924G>T c.(922-924)gcG>gcT p.A308A ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A|ST8SIA5_ENST00000538168.1_Silent_p.A344A NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 308 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GCTCCAGCGCCGCAGTGACCA 0.607 4 100 --- --- --- --- ST8SIA5 29906 broad.mit.edu 37 18 44284609 44284609 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:44284609C>A ENST00000315087.7 - 2 810 c.150G>T c.(148-150)gaG>gaT p.E50D ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 50 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 CAAAAGGCCCCTCATAAAATT 0.512 6 128 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812543 47812543 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:47812543C>A ENST00000285106.6 - 4 1022 c.308G>T c.(307-309)cGg>cTg p.R103L CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 103 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding p.R103L(1) autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCCTCATCCCGGGGCTCACT 0.642 6 166 --- --- --- --- DSEL 92126 broad.mit.edu 37 18 65179270 65179270 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:65179270G>T ENST00000310045.7 - 2 4079 c.2606C>A c.(2605-2607)tCa>tAa p.S869* CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 859 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) ACCAGGAAGTGAGGTAATGAC 0.428 7 356 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74637406 74637406 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:74637406C>A ENST00000253159.8 + 22 4115 c.3917C>A c.(3916-3918)cCa>cAa p.P1306Q ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1306 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCTACTGACCCAAACGTGTTT 0.488 5 105 --- --- --- --- AES 166 broad.mit.edu 37 19 3055700 3055700 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:3055700C>A ENST00000221561.8 - 5 639 c.460G>T c.(460-462)Ggg>Tgg p.G154W AES_ENST00000327141.4_Missense_Mutation_p.G87W|AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.G31W NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 87 Gly/Pro-rich (GP domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCACAAATCCCGTTCAGCCTT 0.652 4 79 --- --- --- --- MYO1F 4542 broad.mit.edu 37 19 8595449 8595449 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:8595449G>T ENST00000338257.8 - 20 2319 c.2052C>A c.(2050-2052)ctC>ctA p.L684L NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 684 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCTCCTCCAGGAGGAAAAGCT 0.652 6 104 --- --- --- --- CCDC151 115948 broad.mit.edu 37 19 11531589 11531589 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:11531589C>A ENST00000356392.4 - 13 1789 c.1702G>T c.(1702-1704)Gag>Tag p.E568* CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377* NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 568 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 GTCACTACCTCGTTGTCCTCC 0.577 4 96 --- --- --- --- SYDE1 85360 broad.mit.edu 37 19 15224692 15224692 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:15224692C>A ENST00000600252.1 + 5 2739 c.1097C>A c.(1096-1098)cCg>cAg p.P366Q SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.P709Q Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 709 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CCCTTCAACCCGCACCTGAAT 0.607 7 201 --- --- --- --- CYP4F12 66002 broad.mit.edu 37 19 15794491 15794491 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:15794491C>A ENST00000550308.1 + 7 1216 c.836C>A c.(835-837)cCc>cAc p.P279H CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CGCACCCTCCCCACTCAGGGT 0.532 7 141 --- --- --- --- KLHL26 55295 broad.mit.edu 37 19 18780060 18780060 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:18780060C>A ENST00000599006.1 + 4 441 c.414C>A c.(412-414)ccC>ccA p.P138P KLHL26_ENST00000300976.4_3'UTR Q53HC5 KLH26_HUMAN kelch-like family member 26 0 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGGTAGCCCCCAAGACCCCCG 0.701 5 70 --- --- --- --- NCAN 1463 broad.mit.edu 37 19 19339217 19339217 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:19339217C>A ENST00000252575.6 + 8 2887 c.2788C>A c.(2788-2790)Cct>Act p.P930T NCAN_ENST00000538881.1_Missense_Mutation_p.P381T NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGCTGTTCCTCCTGGGACACC 0.637 7 146 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 31039790 31039790 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:31039790G>T ENST00000355537.3 + 4 3411 c.3264G>T c.(3262-3264)ctG>ctT p.L1088L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1088 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) AGGAGACTCTGGGAGAGCAGA 0.517 5 67 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769360 31769360 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:31769360G>T ENST00000240587.4 - 2 1666 c.1339C>A c.(1339-1341)Ctg>Atg p.L447M NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 447 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTGGCTGCCAGGGGCACGGAC 0.557 6 123 --- --- --- --- GPI 2821 broad.mit.edu 37 19 34857283 34857283 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:34857283G>T ENST00000415930.3 + 3 443 c.273G>T c.(271-273)ctG>ctT p.L91L GPI_ENST00000356487.5_Silent_p.L52L|GPI_ENST00000586425.1_Silent_p.L52L NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 52 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) GGCATATCCTGGTGGATTACT 0.552 7 160 --- --- --- --- GAPDHS 26330 broad.mit.edu 37 19 36027833 36027833 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:36027833C>A ENST00000222286.4 + 2 302 c.186C>A c.(184-186)ccC>ccA p.P62P NM_014364.4 NP_055179.1 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 62 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) CTCCTCACCCCGCTACTCCTC 0.592 5 99 --- --- --- --- CLIP3 25999 broad.mit.edu 37 19 36508789 36508789 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:36508789C>A ENST00000360535.4 - 10 1515 c.1288G>T c.(1288-1290)Ggg>Tgg p.G430W CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 430 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGCACGATCCCCTGCTTCTGG 0.632 6 106 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36594583 36594583 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:36594583C>A ENST00000401500.2 + 30 3888 c.3853C>A c.(3853-3855)Ctg>Atg p.L1285M WDR62_ENST00000270301.7_Missense_Mutation_p.L1280M NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 1280 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGAGCCTGCCCTGCGTTCCTG 0.662 6 100 --- --- --- --- ZNF585A 199704 broad.mit.edu 37 19 37646805 37646805 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:37646805C>A ENST00000356958.4 - 4 512 c.254G>T c.(253-255)tGg>tTg p.W85L ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L Q6P3V2 Z585A_HUMAN zinc finger protein 585A 85 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGCAGTGCCCATGGTTCCTT 0.512 5 87 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37677025 37677025 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:37677025C>A ENST00000532828.2 - 5 1665 c.1414G>T c.(1414-1416)Ggg>Tgg p.G472W ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGCCTTCCCACATTTATTG 0.393 7 135 --- --- --- --- ZNF607 84775 broad.mit.edu 37 19 38190150 38190150 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:38190150G>T ENST00000355202.4 - 5 1477 c.882C>A c.(880-882)tcC>tcA p.S294S CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CCACAAGGTGGGAAAACTGAC 0.428 6 91 --- --- --- --- SNRPA 6626 broad.mit.edu 37 19 41257332 41257332 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:41257332C>A ENST00000243563.3 + 1 569 c.19C>A c.(19-21)Cgc>Agc p.R7S SNRPA_ENST00000599570.1_3'UTR NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 7 nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCCCGAGACCCGCCCTAACCA 0.493 6 208 --- --- --- --- DMRTC2 63946 broad.mit.edu 37 19 42353218 42353218 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:42353218C>A ENST00000269945.3 + 6 700 c.649C>A c.(649-651)Ctc>Atc p.L217I DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 217 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TGGCACCTCCCTCCAGCTGCC 0.557 7 163 --- --- --- --- PSG1 5669 broad.mit.edu 37 19 43382176 43382176 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:43382176G>T ENST00000244296.2 - 2 456 c.319C>A c.(319-321)Ctg>Atg p.L107M PSG1_ENST00000436291.2_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000601073.1_5'UTR NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TGGATCAGCAGGGATGCATTG 0.448 10 478 --- --- --- --- XRCC1 7515 broad.mit.edu 37 19 44050812 44050812 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:44050812G>T ENST00000262887.5 - 12 1908 c.1361C>A c.(1360-1362)cCt>cAt p.P454H XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 454 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) GGTCTCTTCAGGGGTTGGGGG 0.612 Other BER factors 7 199 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45029262 45029262 + RNA SNP A A G TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:45029262A>G ENST00000454753.1 - 0 346 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AGGACTCCATACGGTACAAAG 0.587 35 85 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262794 45262794 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:45262794C>A ENST00000164227.5 + 9 1531 c.1287C>A c.(1285-1287)ccC>ccA p.P429P NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 429 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding p.P421P(2) kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CATCTCCACCCGCCTTCCTGC 0.682 T IGH@ CLL 5 192 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45389443 45389443 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:45389443C>A ENST00000252483.5 + 8 1314 c.1314C>A c.(1312-1314)ccC>ccA p.P438P CTB-129P6.4_ENST00000585408.1_RNA NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 438 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TCAAGACCCCCTACTTTGATG 0.647 5 68 --- --- --- --- HSD17B14 51171 broad.mit.edu 37 19 49339660 49339660 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:49339660C>A ENST00000263278.4 - 1 275 c.9G>T c.(7-9)acG>acT p.T3T HSD17B14_ENST00000599157.1_Silent_p.T3T NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 3 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) AGCGCGTTCCCGTAGCCATCC 0.647 OREG0025610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 68 --- --- --- --- ZNF473 25888 broad.mit.edu 37 19 50549573 50549573 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:50549573G>T ENST00000595661.1 + 6 2368 c.1873G>T c.(1873-1875)Ggg>Tgg p.G625W CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W|ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W Q8WTR7 ZN473_HUMAN zinc finger protein 473 625 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GGGTGAGCAAGGGAAAGCCAT 0.478 5 69 --- --- --- --- ZNF578 147660 broad.mit.edu 37 19 53008033 53008033 + Splice_Site SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:53008033G>T ENST00000421239.2 + 5 433 c.189G>T c.(187-189)gtG>gtT p.V63V NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TGGAGGCTGTGGGTGAGGAAA 0.483 7 185 --- --- --- --- ZNF468 90333 broad.mit.edu 37 19 53345186 53345186 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:53345186C>A ENST00000595646.1 - 4 481 c.361G>T c.(361-363)Ggt>Tgt p.G121C ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR Q5VIY5 ZN468_HUMAN zinc finger protein 468 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CCTGTACTACCAGCCAACTCT 0.428 6 225 --- --- --- --- LILRA6 79168 broad.mit.edu 37 19 54744952 54744952 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:54744952G>T ENST00000440558.2 - 5 758 c.710C>A c.(709-711)cCt>cAt p.P237H LILRA6_ENST00000396365.2_Missense_Mutation_p.P237H|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCTCTGCCCAGGGGCCAGGAC 0.637 6 79 --- --- --- --- DNAAF3 352909 broad.mit.edu 37 19 55677910 55677910 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:55677910C>A ENST00000527223.2 - 1 108 c.107G>T c.(106-108)cGg>cTg p.R36L CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L|DNAAF3_ENST00000524407.2_5'UTR NM_001256714.1 NP_001243643 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 0 CCAAATATCCCGGGACGCCCC 0.622 OREG0025679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 201 --- --- --- --- ZNF132 7691 broad.mit.edu 37 19 58948496 58948496 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:58948496C>A ENST00000254166.3 - 2 550 c.150G>T c.(148-150)gaG>gaT p.E50D NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 50 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCTCCCACTCCTCTTGGGAGA 0.512 5 54 --- --- --- --- CSNK2A1 1457 broad.mit.edu 37 20 476423 476423 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:476423C>A ENST00000217244.3 - 8 825 c.450G>T c.(448-450)atG>atT p.M150I CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 150 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.M150I(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) GCATAATTCCCATGCTGTGAC 0.408 7 87 --- --- --- --- ATRN 8455 broad.mit.edu 37 20 3564686 3564686 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:3564686C>A ENST00000262919.5 + 17 2974 c.2906C>A c.(2905-2907)cCt>cAt p.P969H ATRN_ENST00000446916.2_Missense_Mutation_p.P969H NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 969 PSI 3. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GCCTCCTTCCCTTTTGGCCAG 0.537 8 316 --- --- --- --- FLRT3 23767 broad.mit.edu 37 20 14306228 14306228 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:14306228G>T ENST00000378053.3 - 2 2181 c.1925C>A c.(1924-1926)cCa>cAa p.P642Q MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 642 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) ATCTGAGTCTGGAATACCACT 0.413 6 155 --- --- --- --- ACSS1 84532 broad.mit.edu 37 20 24993555 24993555 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:24993555C>A ENST00000537502.1 - 9 2882 c.1351G>T c.(1351-1353)Ggg>Tgg p.G451W ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W|ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000323482.4_Missense_Mutation_p.G534W Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 534 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGGTAAGCCCCGTCTCCAGTG 0.567 5 95 --- --- --- --- FOXS1 2307 broad.mit.edu 37 20 30432472 30432472 + Missense_Mutation SNP G G A rs2296917 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:30432472G>A ENST00000375978.3 - 1 948 c.874C>T c.(874-876)Cca>Tca p.P292S NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 292 P -> A (in dbSNP:rs2296917). anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 TGGTCAGTTGGCAGGGGCAGT 0.687 5 40 --- --- --- --- SUN5 140732 broad.mit.edu 37 20 31571702 31571702 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:31571702C>A ENST00000356173.3 - 13 1130 c.1038G>T c.(1036-1038)tgG>tgT p.W346C SUN5_ENST00000375523.3_Missense_Mutation_p.W321C NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 346 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CTGGGTTCCCCCAGTTGCTTG 0.597 6 119 --- --- --- --- RBM39 9584 broad.mit.edu 37 20 34312596 34312596 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:34312596C>A ENST00000361162.6 - 8 967 c.583G>T c.(583-585)Gga>Tga p.G195* RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000253363.6_Nonsense_Mutation_p.G195* NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 195 RRM 1. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TAAGCAATTCCTTTGGAACGT 0.418 7 85 --- --- --- --- TTI1 9675 broad.mit.edu 37 20 36640476 36640476 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:36640476C>A ENST00000373448.2 - 3 1981 c.1743G>T c.(1741-1743)atG>atT p.M581I TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I|TTI1_ENST00000373447.3_Missense_Mutation_p.M581I NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 581 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GCTCCTCTCCCATTTCCTCAG 0.448 7 223 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37194025 37194025 + Nonsense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:37194025G>T ENST00000262879.6 + 25 4005 c.3721G>T c.(3721-3723)Gga>Tga p.G1241* RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241* Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1241 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGAAGATATTGGAGCTAGCAT 0.383 6 174 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40052148 40052148 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:40052148G>T ENST00000373233.3 - 30 4716 c.4539C>A c.(4537-4539)ccC>ccA p.P1513P NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1513 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTTTCCATGTGGGTAGACGAC 0.408 10 513 --- --- --- --- PIGT 51604 broad.mit.edu 37 20 44054219 44054219 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:44054219C>A ENST00000279036.6 + 12 1570 c.1490C>A c.(1489-1491)cCa>cAa p.P497Q PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 497 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) CCCAGGTTCCCAGTCTCTGAT 0.587 4 34 --- --- --- --- ZNF334 55713 broad.mit.edu 37 20 45130191 45130191 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:45130191C>A ENST00000457685.2 - 6 2996 c.1673G>T c.(1672-1674)gGg>gTg p.G558V ZNF334_ENST00000347606.4_Missense_Mutation_p.G596V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V Q9HCZ1 ZN334_HUMAN zinc finger protein 334 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGGTTTCTCCCCAGTGTGAGT 0.428 7 124 --- --- --- --- PREX1 57580 broad.mit.edu 37 20 47317359 47317359 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:47317359C>A ENST00000396220.1 - 7 871 c.849G>T c.(847-849)gcG>gcT p.A283A PREX1_ENST00000371941.3_Silent_p.A283A Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 283 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.A283A(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGATGTTGCCCGCAGAGATCT 0.547 6 230 --- --- --- --- BCAS1 8537 broad.mit.edu 37 20 52644936 52644936 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:52644936C>A ENST00000395961.3 - 4 884 c.718G>T c.(718-720)Ggg>Tgg p.G240W BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 240 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CTTACCTTCCCTGCAGGGACA 0.557 7 198 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61513251 61513251 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:61513251C>A ENST00000266070.4 - 16 4382 c.4057G>T c.(4057-4059)Ggg>Tgg p.G1353W DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1353 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCCGGCACCCCGTCCTCTGCT 0.577 5 163 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62854504 62854504 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:62854504G>T ENST00000536311.1 + 15 2882 c.2518G>T c.(2518-2520)Ggg>Tgg p.G840W MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000328439.1_Missense_Mutation_p.G813W Q01538 MYT1_HUMAN myelin transcription factor 1 813 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CCACATCACCGGGAACTACGC 0.637 5 192 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30304866 30304866 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr21:30304866C>A ENST00000389194.2 - 28 5139 c.5134G>T c.(5134-5136)Ggg>Tgg p.G1712W LTN1_ENST00000361371.5_Missense_Mutation_p.G1666W NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1666 ligase activity|zinc ion binding p.G1666W(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ACTCTTTTCCCACTTTCTACT 0.403 7 264 --- --- --- --- PAXBP1 94104 broad.mit.edu 37 21 34117169 34117169 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr21:34117169C>A ENST00000331923.4 - 13 2313 c.2124G>T c.(2122-2124)gtG>gtT p.V708V PAXBP1_ENST00000290178.4_Silent_p.V708V NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 p.V708V(1) GTGTAATTCCCACCATTCTTG 0.318 6 177 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43223036 43223036 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr21:43223036C>A ENST00000422911.1 - 24 3051 c.2950G>T c.(2950-2952)Ggg>Tgg p.G984W PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W|PRDM15_ENST00000269844.3_Missense_Mutation_p.G1293W NM_001282934.1 NP_001269863.1 P57071 PRD15_HUMAN PR domain containing 15 1293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GCAGCTTTCCCGTGCTTCCCT 0.577 6 298 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951361 46951361 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr21:46951361G>T ENST00000311124.4 - 3 1043 c.891C>A c.(889-891)ccC>ccA p.P297P SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 297 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) TGTTGGTGGTGGGGTCCACCT 0.657 5 95 --- --- --- --- POTEH 23784 broad.mit.edu 37 22 16287667 16287667 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:16287667C>A ENST00000343518.6 - 1 270 c.219G>T c.(217-219)agG>agT p.R73S NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 73 p.R73R(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGCCGCTCCCCCTGCACCAGG 0.577 8 329 --- --- --- --- CECR1 51816 broad.mit.edu 37 22 17688080 17688080 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:17688080C>A ENST00000399839.1 - 3 693 c.423G>T c.(421-423)agG>agT p.R141S CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S NM_001282227.1|NM_001282228.1 NP_001269156.1|NP_001269157.1 Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 141 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GCATGATCCCCCTTGGGGTGA 0.537 6 130 --- --- --- --- CLTCL1 8218 broad.mit.edu 37 22 19198013 19198013 + Silent SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:19198013T>C ENST00000263200.10 - 20 3144 c.3072A>G c.(3070-3072)ctA>ctG p.L1024L CLTCL1_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_Silent_p.L1024L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1024 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACAGATTCTGTAGATTCCTGA 0.552 T ? ALCL 3 47 --- --- --- --- YPEL1 29799 broad.mit.edu 37 22 22065049 22065049 + Translation_Start_Site SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:22065049C>A ENST00000339468.3 - 0 368 YPEL1_ENST00000403503.1_De_novo_Start_OutOfFrame NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) CTGGGCACTCCTCACTCAGCT 0.532 6 149 --- --- --- --- RAB36 9609 broad.mit.edu 37 22 23500217 23500217 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:23500217C>A ENST00000263116.2 + 7 671 c.631C>A c.(631-633)Ctg>Atg p.L211M RAB36_ENST00000341989.4_Missense_Mutation_p.L189M NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 211 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) CGTGCAGACCCTGGAGCATAC 0.627 7 192 --- --- --- --- BCR 613 broad.mit.edu 37 22 23524102 23524102 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:23524102C>A ENST00000305877.8 + 1 1706 c.955C>A c.(955-957)Cgg>Agg p.R319R BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 319 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CTACTCCCCCCGGAGTTTTGA 0.652 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 3 21 --- --- --- --- FAM211B 388886 broad.mit.edu 37 22 24982284 24982284 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:24982284C>T ENST00000318753.8 - 4 541 c.518G>A c.(517-519)cGc>cAc p.R173H GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 173 GCTCAGGTAGCGTGTGATGTG 0.627 81 130 --- --- --- --- TMEM211 255349 broad.mit.edu 37 22 25331314 25331314 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:25331314C>A ENST00000407886.1 - 4 628 c.376G>T c.(376-378)Gaa>Taa p.E126* TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126* Q6ICI0 TM211_HUMAN transmembrane protein 211 197 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TTGTTCATTTCTGGCACAAAG 0.493 42 80 --- --- --- --- ASCC2 84164 broad.mit.edu 37 22 30200815 30200815 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:30200815C>A ENST00000397771.2 - 14 1342 c.1165G>T c.(1165-1167)Gag>Tag p.E389* ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313* Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GTCCGCGTCTCGTCCCTGTGA 0.547 6 232 --- --- --- --- MORC2 22880 broad.mit.edu 37 22 31328983 31328983 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:31328983C>A ENST00000397641.3 - 22 2823 c.2415G>T c.(2413-2415)agG>agT p.R805S MORC2_ENST00000215862.4_Missense_Mutation_p.R743S Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TGTACCACTCCCTGTTCACAC 0.577 9 317 --- --- --- --- IL3RA 3563 broad.mit.edu 37 X 1464312 1464312 + Silent SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:1464312C>A ENST00000331035.4 + 3 517 c.168C>A c.(166-168)gcC>gcA p.A56A IL3RA_ENST00000381469.2_Intron NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 56 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTAAAGACGCCGACTATTCTA 0.348 5 225 --- --- --- --- NLGN4X 57502 broad.mit.edu 37 X 5811275 5811275 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:5811275G>T ENST00000381095.3 - 6 2661 c.2034C>A c.(2032-2034)acC>acA p.T678T NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T NM_001282145.1|NM_001282146.1|NM_181332.1 NP_001269074.1|NP_001269075.1|NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 678 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.T678T(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CGACGGCAATGGTGACACTTA 0.512 5 77 --- --- --- --- KAL1 3730 broad.mit.edu 37 X 8502428 8502428 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:8502428G>T ENST00000262648.3 - 13 2065 c.1916C>A c.(1915-1917)cCa>cAa p.P639Q NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 639 Fibronectin type-III 4. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 CTCCCCTCCTGGGGTCAGCAC 0.562 4 20 --- --- --- --- GRIPAP1 56850 broad.mit.edu 37 X 48847438 48847438 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:48847438G>T ENST00000376423.4 - 6 415 c.383C>A c.(382-384)cCc>cAc p.P128H GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.P181H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 181 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 CAGGACGGTGGGGGCCGGGCC 0.607 5 47 --- --- --- --- SYP 6855 broad.mit.edu 37 X 49050744 49050744 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:49050744G>T ENST00000263233.4 - 4 374 c.302C>A c.(301-303)tCc>tAc p.S101Y SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.S101Y NM_003179.2 NP_003170.1 P08247 SYPH_HUMAN synaptophysin 101 MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) GGCTGACGAGGAGTAGTCCCC 0.572 4 31 --- --- --- --- SLC6A14 11254 broad.mit.edu 37 X 115572207 115572207 + Silent SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:115572207G>T ENST00000371900.4 + 3 376 c.288G>T c.(286-288)ctG>ctT p.L96L NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 96 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) AGTGTTCACTGGGACAATTTG 0.388 6 168 --- --- --- --- DUSP9 1852 broad.mit.edu 37 X 152915608 152915608 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chrX:152915608G>T ENST00000342782.3 + 4 1268 c.1003G>T c.(1003-1005)Ggg>Tgg p.G335W DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W Q99956 DUS9_HUMAN dual specificity phosphatase 9 335 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAACTTCATGGGGCAGTTGCT 0.602 6 122 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65273529 65273531 + RNA DEL TTG TTG - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:65273529_65273531delTTG ENST00000534336.1 + 0 8297_8299 NR_002819.2 ACAACACGTATTGTTTTCTCAGG 0.414 21 66 --- --- --- --- MIB1 57534 broad.mit.edu 37 18 19395662 19395663 + Frame_Shift_Ins INS - - T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:19395662_19395663insT ENST00000261537.6 + 11 1829_1830 c.1565_1566insT c.(1564-1569)gatttgfs p.L523fs MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 523 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GGTAGTGCTGATTTGAATGCTC 0.411 21 61 --- --- --- --- IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398 Mis gliobastoma 20 53 --- --- --- ---