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 MTOR 2475 broad.mit.edu 37 1 11217231 11217231 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:11217231A>G uc001asd.3 - 29 4568 c.4447T>C c.(4447-4449)Tgc>Cgc p.C1483R NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 1483 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.C1483F(2)|p.C1483Y(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCCTCGAGGCAGCGCATGCGG 0.527 KIF17 57576 broad.mit.edu 37 1 21031072 21031072 + Missense_Mutation SNP G G A rs139912475 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:21031072G>A uc001bdr.4 - 4 1109 c.991C>T c.(991-993)Cgg>Tgg p.R331W KIF17_uc001bds.4_Missense_Mutation_p.R331W NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 331 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TTCTTGGCCCGGTTGGCGTAG 0.597 ELTD1 64123 broad.mit.edu 37 1 79412033 79412033 + Missense_Mutation SNP C C G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:79412033C>G uc001diq.4 - 2 407 c.251G>C c.(250-252)tGt>tCt p.C84S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 84 EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.C84Y(2) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACACACATACAATAATAACT 0.363 ABCA4 24 broad.mit.edu 37 1 94543367 94543367 + Missense_Mutation SNP A A T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:94543367A>T uc001dqh.3 - 10 1537 c.1433T>A c.(1432-1434)aTc>aAc p.I478N ABCA4_uc010otn.1_Missense_Mutation_p.I478N NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 478 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GAAGTTTAGGATGGCTTCAGC 0.493 ATP1A2 477 broad.mit.edu 37 1 160106156 160106156 + Missense_Mutation SNP G G C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:160106156G>C uc001fvc.3 + 17 2691 c.2559G>C c.(2557-2559)caG>caC p.Q853H ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.3_Missense_Mutation_p.Q589H NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 853 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCTACGGACAGATCGGTGCGC 0.577 DUSP27 92235 broad.mit.edu 37 1 167064116 167064116 + Silent SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:167064116G>A uc001geb.1 + 0 46 c.30G>A c.(28-30)gaG>gaA p.E10E NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 10 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAGAGGAGGAGCAGGTAGTCC 0.547 DUSP27 92235 broad.mit.edu 37 1 167095182 167095182 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:167095182C>T uc001geb.1 + 4 830 c.814C>T c.(814-816)Cgg>Tgg p.R272W NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 272 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAAGCAGCTGCGGGAGCTCAA 0.582 NLRP3 114548 broad.mit.edu 37 1 247587535 247587535 + Missense_Mutation SNP G G T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr1:247587535G>T uc001icr.3 + 4 928 c.790G>T c.(790-792)Gtg>Ttg p.V264L NLRP3_uc001ics.3_Missense_Mutation_p.V264L|NLRP3_uc001icu.3_Missense_Mutation_p.V264L|NLRP3_uc001icw.3_Missense_Mutation_p.V264L|NLRP3_uc001icv.3_Missense_Mutation_p.V264L|NLRP3_uc010pyw.2_Missense_Mutation_p.V262L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 264 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTGTCGAGAGGTGAGCCTTGT 0.537 MBL2 4153 broad.mit.edu 37 10 54531391 54531391 + Missense_Mutation SNP G G T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr10:54531391G>T uc001jjt.3 - 0 70 c.5C>A c.(4-6)tCc>tAc p.S2Y NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 2 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TGGAAACAGGGACATGGTCCT 0.502 PCDH15 65217 broad.mit.edu 37 10 55839114 55839114 + Missense_Mutation SNP C C G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr10:55839114C>G uc010qhy.1 - 17 2478 c.2083G>C c.(2083-2085)Gct>Cct p.A695P PCDH15_uc010qhq.2_Missense_Mutation_p.A695P|PCDH15_uc010qhr.2_Missense_Mutation_p.A690P|PCDH15_uc021pqv.1_Missense_Mutation_p.A690P|PCDH15_uc021pqw.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.2_Missense_Mutation_p.A697P|PCDH15_uc021pqx.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc021pqy.1_Missense_Mutation_p.A690P|PCDH15_uc021pqz.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc001jju.1_Missense_Mutation_p.A690P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.3_Missense_Mutation_p.A690P NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 690 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CCATCTGAAGCTGTGATGATC 0.433 HNSCC(58;0.16) MGMT 4255 broad.mit.edu 37 10 131506185 131506185 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr10:131506185C>T uc001lkh.2 + 2 271 c.245C>T c.(244-246)gCg>gTg p.A82V NM_002412 NP_002403 B4DEE8 B4DEE8_HUMAN Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA. 82 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GCCCCCGCTGCGGTTCTCGGA 0.602 Direct reversal of damage PDE3B 5140 broad.mit.edu 37 11 14853295 14853295 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:14853295G>A uc001mln.3 + 8 2419 c.2066G>A c.(2065-2067)gGa>gAa p.G689E PDE3B_uc010rcr.2_Missense_Mutation_p.G638E NM_000922 NP_000913 Q13370 PDE3B_HUMAN Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA. 689 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAAAAGATGGGAGAGAAATCA 0.294 HIPK3 10114 broad.mit.edu 37 11 33375092 33375092 + Missense_Mutation SNP T T C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:33375092T>C uc001mul.1 + 16 3896 c.3626T>C c.(3625-3627)cTc>cCc p.L1209P HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P NM_005734 NP_005725 Q9H422 HIPK3_HUMAN Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA. 1209 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 CCAACAAAACTCAGCCAGTAT 0.363 OR5AS1 219447 broad.mit.edu 37 11 55798090 55798090 + Missense_Mutation SNP T T G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:55798090T>G uc010riw.2 + 0 196 c.196T>G c.(196-198)Tta>Gta p.L66V NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCTTAGCAACTTATCTTTCTT 0.348 OR5M9 390162 broad.mit.edu 37 11 56229973 56229973 + Missense_Mutation SNP G G C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:56229973G>C uc010rjj.2 - 0 905 c.905C>G c.(904-906)gCa>gGa p.A302G OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) CTTGGTGATTGCTTTGTTGAC 0.378 DTX4 23220 broad.mit.edu 37 11 58949878 58949878 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:58949878A>G uc001nns.2 + 1 1135 c.878A>G c.(877-879)aAt>aGt p.N293S DTX4_uc001nnr.2_Missense_Mutation_p.N187S NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA. 293 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GCCACCTTGAATCGTACCAAC 0.612 PCNXL3 399909 broad.mit.edu 37 11 65402835 65402835 + Silent SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr11:65402835G>A uc001oey.2 + 30 5100 c.5100G>A c.(5098-5100)gcG>gcA p.A1700A PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 1700 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCCTGCTGGCGCTGCGCCATG 0.632 CACNA1C 775 broad.mit.edu 37 12 2716205 2716205 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr12:2716205C>T uc009zdu.1 + 26 3638 c.3325C>T c.(3325-3327)Cgc>Tgc p.R1109C CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1109 Dihydropyridine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATCCAACCCCGCAGCTGGGA 0.542 TMTC1 83857 broad.mit.edu 37 12 29669420 29669420 + Splice_Site SNP C C A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr12:29669420C>A uc021qwi.1 - 15 2229 c.2170_splice c.e15-1 p.A724_splice TMTC1_uc001riz.3_Splice_Site_p.A373_splice|TMTC1_uc001rja.3_Splice_Site_p.A460_splice|TMTC1_uc001rjb.3_Splice_Site_p.A616_splice|TMTC1_uc001riy.3_Splice_Site_p.A69_splice NM_001193451 NP_001180380 Q8IUR5 TMTC1_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA. 724 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AAACCTGAGCCTACAAAACCA 0.453 ABCD2 225 broad.mit.edu 37 12 40001468 40001468 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr12:40001468G>A uc001rmb.2 - 2 1595 c.1169C>T c.(1168-1170)aCc>aTc p.T390I NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 390 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TCGAGCAGTGGTAAAGGCTTC 0.323 PCDH20 64881 broad.mit.edu 37 13 61985826 61985826 + Silent SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr13:61985826G>A uc001vid.4 - 1 2770 c.2406C>T c.(2404-2406)ggC>ggT p.G802G PCDH20_uc010thj.2_Silent_p.G802G NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 775 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AAGTAATGTTGCCAGTTTTAG 0.488 CTAGE11P 647288 broad.mit.edu 37 13 75814288 75814288 + Silent SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr13:75814288A>G uc010ths.2 - 0 230 c.189T>C c.(187-189)ttT>ttC p.F63F Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. TAACCGATCTAAAACTTCTCC 0.378 PCID2 55795 broad.mit.edu 37 13 113854813 113854813 + Silent SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr13:113854813G>A uc021rmt.1 - 1 135 c.54C>T c.(52-54)gaC>gaT p.D18D PCID2_uc021rmq.1_Silent_p.D18D|PCID2_uc021rmr.1_Silent_p.D18D|PCID2_uc021rms.1_Silent_p.D18D|PCID2_uc001vtg.2_Non-coding_Transcript NM_018386 NP_060856 Q5JVF3 PCID2_HUMAN Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA. 18 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CATCTCTGCTGTCGATGGCTT 0.418 AHNAK2 113146 broad.mit.edu 37 14 105404844 105404844 + Nonsense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr14:105404844C>T uc010axc.1 - 6 17064 c.16944G>A c.(16942-16944)tgG>tgA p.W5648* AHNAK2_uc021sen.1_Nonsense_Mutation_p.W1045*|AHNAK2_uc021seo.1_Nonsense_Mutation_p.W646*|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 5648 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) TGTTTGGAAGCCAAAACCAGA 0.478 EIF3J 8669 broad.mit.edu 37 15 44829531 44829532 + Frame_Shift_Ins INS - - T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr15:44829531_44829532insT uc001ztv.3 + 1 180_181 c.53_54insT c.(52-54)gctfs p.A18fs LOC645212_uc021skh.1_5'Flank|LOC645212_uc001ztu.3_5'Flank|EIF3J_uc010ueg.2_Frame_Shift_Ins_p.A18fs NM_003758 NP_003749 O75822 EIF3J_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA. 18 Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GACGCCGACGCTTTCTCCGTGG 0.708 CEP152 22995 broad.mit.edu 37 15 49054660 49054660 + Silent SNP T T G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr15:49054660T>G uc001zwz.3 - 17 2683 c.2490A>C c.(2488-2490)atA>atC p.I830I CEP152_uc001zwy.3_Silent_p.I830I|CEP152_uc001zxa.2_Silent_p.I737I NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 830 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CCTTGATGGCTATGTCCTTCT 0.358 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr15:102515299G>A uc002cdi.3 + 8 1943 c.523G>A c.(523-525)Ggc>Agc p.G175S WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652 HYDIN 54768 broad.mit.edu 37 16 70913364 70913364 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr16:70913364C>T uc002ezr.3 - 61 10541 c.10390G>A c.(10390-10392)Gtg>Atg p.V3464M NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3465 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTCAAACACGAGGCCTCGG 0.567 SLC4A1 6521 broad.mit.edu 37 17 42330498 42330498 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr17:42330498C>T uc002igf.4 - 16 2448 c.2299G>A c.(2299-2301)Gct>Act p.A767T SLC4A1_uc021tyc.1_Missense_Mutation_p.A401T NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 767 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ACAAGCACAGCGACCAGGAGT 0.637 FBF1 85302 broad.mit.edu 37 17 73914257 73914257 + Silent SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr17:73914257G>A uc002jqc.3 - 19 2461 c.2187C>T c.(2185-2187)gcC>gcT p.A729A FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.A40A NM_001080542 NP_001074011 A6NLR5 A6NLR5_HUMAN Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA. 729 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 TGTGGGAGGTGGCACTGGTGG 0.662 AANAT 15 broad.mit.edu 37 17 74465812 74465812 + Silent SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr17:74465812C>T uc021udg.1 + 6 1526 c.519C>T c.(517-519)cgC>cgT p.R173R AANAT_uc002jro.3_Silent_p.R128R|AANAT_uc010wte.2_Non-coding_Transcript NM_001166579 NP_001079 Q16613 SNAT_HUMAN Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA. 128 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 CCGTGCACCGCGCCTTCCGGC 0.701 EPB41L3 23136 broad.mit.edu 37 18 5489008 5489008 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr18:5489008G>A uc002kmt.1 - 1 261 c.175C>T c.(175-177)Cgg>Tgg p.R59W EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA. 59 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ACCTCCCTCCGCACCGGGGTG 0.672 LAMA3 3909 broad.mit.edu 37 18 21338466 21338466 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr18:21338466G>A uc002kuq.3 + 6 1140 c.1054G>A c.(1054-1056)Gag>Aag p.E352K LAMA3_uc010dlv.2_Missense_Mutation_p.E352K|LAMA3_uc002kur.3_Missense_Mutation_p.E352K NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 352 Domain V.|Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCAGAGCCACGAGTGTGAAGG 0.647 TAF4B 6875 broad.mit.edu 37 18 23873445 23873445 + Silent SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr18:23873445A>G uc002kvt.4 + 8 2286 c.1797A>G c.(1795-1797)gcA>gcG p.A599A TAF4B_uc002kvu.4_Silent_p.A594A|TAF4B_uc002kvs.4_Non-coding_Transcript NM_005640 NP_005631 Q92750 TAF4B_HUMAN Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA. 594 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) CACTTCAAGCATCTCCTACTC 0.269 BEST2 54831 broad.mit.edu 37 19 12864093 12864093 + Nonsense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:12864093C>T uc002mux.3 + 1 172 c.172C>T c.(172-174)Cag>Tag p.Q58* NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN Homo sapiens bestrophin 2 (BEST2), mRNA. 58 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 GACCGAAGGGCAGAAGCGCTA 0.567 OR7A10 390892 broad.mit.edu 37 19 14951796 14951796 + Missense_Mutation SNP C C A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:14951796C>A uc002mzx.1 - 0 894 c.894G>T c.(892-894)aaG>aaT p.K298N NM_001005190 NP_001005190 O76100 OR7AA_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) TCATAGCACCCTTTATGTGTT 0.468 MAP1S 55201 broad.mit.edu 37 19 17838511 17838511 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:17838511G>A uc002nhe.1 + 4 2327 c.2318G>A c.(2317-2319)cGg>cAg p.R773Q MAP1S_uc010eaz.2_Missense_Mutation_p.R386Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q NM_018174 NP_060644 Q66K74 MAP1S_HUMAN Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA. 773 Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding p.R773R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 TCACAGGAACGGGCAGGTGGG 0.687 CEACAM5 1048 broad.mit.edu 37 19 42218934 42218934 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:42218934G>A uc002orl.3 + 2 590 c.469G>A c.(469-471)Gtg>Atg p.V157M CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 157 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CTCCAAACCCGTGGAGGACAA 0.562 FUT1 2523 broad.mit.edu 37 19 49253828 49253828 + Silent SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:49253828G>A uc002pkk.3 - 3 1686 c.711C>T c.(709-711)ggC>ggT p.G237G FUT1_uc021uwy.1_Silent_p.G237G NM_000148 NP_000139 P19526 FUT1_HUMAN Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA. 237 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AGGCGCTGTCGCCCACCACAC 0.657 NLRP12 91662 broad.mit.edu 37 19 54314476 54314476 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:54314476C>T uc002qcj.4 - 2 657 c.437G>A c.(436-438)cGc>cAc p.R146H NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R146H|NLRP12_uc002qci.4_Missense_Mutation_p.R146H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R146H NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 146 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.R146L(2)|p.R146H(2)|p.A145A(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTCCCCTAGGCGCGCATTGCG 0.567 PPP6R1 22870 broad.mit.edu 37 19 55742009 55742009 + Missense_Mutation SNP G G T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr19:55742009G>T uc002qjv.3 - 21 2883 c.2800C>A c.(2800-2802)Ccg>Acg p.P934T TMEM86B_uc002qjt.3_5'Flank|TMEM86B_uc002qju.3_5'Flank|PPP6R1_uc002qjw.4_Missense_Mutation_p.P872T NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA. 872 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 GGCCCTTCCGGGGCAGAGCCA 0.677 SLC9A4 389015 broad.mit.edu 37 2 103095456 103095456 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:103095456G>A uc002tbz.4 + 1 872 c.415G>A c.(415-417)Gtt>Att p.V139I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 139 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCCACCCATCGTTCTGGAGGG 0.617 ANAPC1 64682 broad.mit.edu 37 2 112541977 112541977 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:112541977C>T uc002thi.3 - 41 5165 c.4918_splice c.e41-1 p.G1640_splice NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 1640 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 CACTGAGTGCCCTTTACAAAT 0.458 TTN 7273 broad.mit.edu 37 2 179542530 179542530 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:179542530A>G uc021vsy.1 - 142 30602 c.30377T>C c.(30376-30378)gTt>gCt p.V10126A TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11053 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCAGGTAGAACTTCCTCTTC 0.448 ALPI 248 broad.mit.edu 37 2 233323014 233323014 + Missense_Mutation SNP C C T rs146257849 byFrequency TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:233323014C>T uc002vst.4 + 8 1156 c.1079C>T c.(1078-1080)gCg>gTg p.A360V ALPI_uc002vsu.4_Missense_Mutation_p.A271V NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 360 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATTGAGAGGGCGGGCCAGCTC 0.627 PDCD1 5133 broad.mit.edu 37 2 242800933 242800933 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr2:242800933G>A uc002wcq.4 - 0 126 c.58C>T c.(58-60)Cgg>Tgg p.R20W PDCD1_uc010fzt.3_Non-coding_Transcript NM_005018 NP_005009 Q15116 PDCD1_HUMAN Homo sapiens programmed cell death 1 (PDCD1), mRNA. 20 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) CATCCTGGCCGCCAGCCCAGT 0.677 C20orf196 149840 broad.mit.edu 37 20 5843987 5843987 + Missense_Mutation SNP G G T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:5843987G>T uc002wmf.3 + 2 583 c.496G>T c.(496-498)Gac>Tac p.D166Y NM_152504 NP_689717 Q8IYI0 CT196_HUMAN Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA. 166 endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 GCATTCCAGGGACACCCACTT 0.512 DLGAP4 22839 broad.mit.edu 37 20 35060659 35060659 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:35060659G>A uc002xff.3 + 2 974 c.539G>A c.(538-540)cGg>cAg p.R180Q DLGAP4_uc010zvp.2_Missense_Mutation_p.R180Q NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA. 180 cell-cell signaling membrane protein binding p.R180W(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GGCAAGGGCCGGAGGGCCAAA 0.647 NFATC2 4773 broad.mit.edu 37 20 50133367 50133367 + Nonsense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:50133367G>A uc002xwd.3 - 2 1508 c.1288C>T c.(1288-1290)Cga>Tga p.R430* NFATC2_uc002xwc.3_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R410*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R211* NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 430 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) ACAGCCCCTCGGCTGCCTTCT 0.557 COL20A1 57642 broad.mit.edu 37 20 61943349 61943349 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr20:61943349G>A uc011aau.2 + 13 1845 c.1745G>A c.(1744-1746)aGg>aAg p.R582K COL20A1_uc011aav.2_Missense_Mutation_p.R403K NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 582 Fibronectin type-III 4. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGTGCCCCGAGGCCTGTGCGC 0.682 KRTAP10-11 386678 broad.mit.edu 37 21 46066409 46066409 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr21:46066409G>A uc002zfr.4 + 0 79 c.34G>A c.(34-36)Gct>Act p.A12T TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198692 NP_941965 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA. 12 keratin filament p.S11S(1) NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CTGCTCCAGCGCTTACTCCGA 0.667 SLC19A1 6573 broad.mit.edu 37 21 46950811 46950811 + Missense_Mutation SNP C C T rs142899279 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr21:46950811C>T uc002zhl.2 - 3 1177 c.1024G>A c.(1024-1026)Gtc>Atc p.V342I SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc011aft.2_Missense_Mutation_p.V302I|SLC19A1_uc002zhm.2_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.2_Missense_Mutation_p.V221I NM_194255 NP_919231 P41440 S19A1_HUMAN Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA. 342 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) GTGGCCGTGACGCCCGCGATG 0.697 CCT8L2 150160 broad.mit.edu 37 22 17073274 17073274 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:17073274C>T uc002zlp.1 - 0 427 c.167G>A c.(166-168)cGg>cAg p.R56Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 56 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.G55S(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GAACTTCTGCCGGCCGTGGGG 0.642 GNB1L 54584 broad.mit.edu 37 22 19799872 19799872 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:19799872C>T uc002zqf.1 - 4 590 c.353G>A c.(352-354)aGc>aAc p.S118N NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA. 118 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular p.R117W(1) breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CAGGATGCTGCTCCGGCAGAA 0.692 BPIFC 254240 broad.mit.edu 37 22 32833790 32833790 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:32833790C>T uc003amn.2 - 6 704 c.704G>A c.(703-705)aGt>aAt p.S235N BPIFC_uc010gwo.2_Missense_Mutation_p.S49N|BPIFC_uc011amb.1_5'UTR NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 235 extracellular region lipopolysaccharide binding|phospholipid binding TTCTGGAGAACTGATTAGGGA 0.353 SYN3 8224 broad.mit.edu 37 22 33402361 33402361 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr22:33402361A>G uc003amx.3 - 0 449 c.287T>C c.(286-288)gTg>gCg p.V96A SYN3_uc003amy.3_Missense_Mutation_p.V96A|SYN3_uc003amz.3_Missense_Mutation_p.V96A NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 96 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ATCATCGATCACCAACAGGAT 0.547 ATP2B2 491 broad.mit.edu 37 3 10413514 10413514 + Silent SNP G G A rs148841263 byFrequency TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:10413514G>A uc003bvt.3 - 11 2077 c.1638C>T c.(1636-1638)agC>agT p.S546S ATP2B2_uc003bvv.3_Silent_p.S501S|ATP2B2_uc003bvw.3_Silent_p.S501S|ATP2B2_uc010hdo.3_Silent_p.S251S NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 546 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGGTGTAGGCGCTGTTGATGG 0.547 NR2C2 7182 broad.mit.edu 37 3 15070193 15070193 + Missense_Mutation SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:15070193A>G uc003bzj.4 + 7 1116 c.899A>G c.(898-900)cAg>cGg p.Q300R NR2C2_uc003bzi.3_Missense_Mutation_p.Q319R NM_003298 NP_003289 P49116 NR2C2_HUMAN Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA. 300 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.V299A(1) breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCAGAAATCCAGCCAGAGGAC 0.542 LRRC3B 116135 broad.mit.edu 37 3 26751737 26751737 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:26751737G>A uc003cdp.3 + 1 1163 c.574G>A c.(574-576)Gct>Act p.A192T LRRC3B_uc003cdq.3_Missense_Mutation_p.A192T|LRRC3B_uc021wuj.1_Missense_Mutation_p.A192T NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 192 LRRCT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TGCCAACGACGCTGACCTTTG 0.468 MST1R 4486 broad.mit.edu 37 3 49940194 49940194 + Silent SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:49940194A>G uc003cxy.4 - 0 1113 c.849T>C c.(847-849)ctT>ctC p.L283L MST1R_uc011bdc.2_Silent_p.L283L|MST1R_uc011bdd.2_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.2_Silent_p.L283L NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 283 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAGTGGCGCTAAGCCGTGCCA 0.622 ITIH4 3700 broad.mit.edu 37 3 52851043 52851043 + Silent SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:52851043C>T uc011bem.2 - 20 2371 c.2343G>A c.(2341-2343)gaG>gaA p.E781E ITIH4_uc011bel.2_Silent_p.E490E|ITIH4_uc003dfy.3_Silent_p.E571E|ITIH4_uc003dfz.3_Silent_p.E776E|ITIH4_uc011ben.2_Silent_p.E746E NM_002218 NP_002209 Q14624 ITIH4_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA. 776 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACCCAGCCTTCTCCCTCTCAT 0.592 ARL6 84100 broad.mit.edu 37 3 97506846 97506846 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:97506846G>A uc003drv.3 + 6 675 c.362G>A c.(361-363)cGt>cAt p.R121H ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.R121H|ARL6_uc010hoy.3_Missense_Mutation_p.R121H NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA. 121 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ATTAAACACCGTCGAATTCCA 0.323 OR5K1 26339 broad.mit.edu 37 3 98189167 98189167 + Silent SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:98189167A>G uc003dsm.3 + 0 747 c.747A>G c.(745-747)tcA>tcG p.S249S NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S249L(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGTCAGTTTCATTATTCTATG 0.333 ST3GAL6 10402 broad.mit.edu 37 3 98507190 98507190 + Missense_Mutation SNP G G C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:98507190G>C uc003dtc.3 + 8 1106 c.639G>C c.(637-639)aaG>aaC p.K213N ST3GAL6_uc003dsy.3_Missense_Mutation_p.K127N|ST3GAL6_uc003dsz.3_Missense_Mutation_p.K213N|ST3GAL6_uc003dta.3_Missense_Mutation_p.K95N|ST3GAL6_uc010hpd.3_Missense_Mutation_p.K266N NM_006100 NP_006091 Q9Y274 SIA10_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA. 213 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GTTTTTGGAAGAAACCAGCCT 0.323 MYLK 4638 broad.mit.edu 37 3 123428617 123428617 + Missense_Mutation SNP G G C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:123428617G>C uc003ego.3 - 13 2210 c.1928C>G c.(1927-1929)aCt>aGt p.T643S MYLK_uc011bjw.2_Missense_Mutation_p.T643S|MYLK_uc003egp.3_Missense_Mutation_p.T574S|MYLK_uc003egq.3_Missense_Mutation_p.T643S|MYLK_uc003egr.3_Missense_Mutation_p.T574S|MYLK_uc003egs.3_Missense_Mutation_p.T467S NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 643 Ig-like C2-type 5. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CACTTGGACAGTCATAGTGAC 0.532 TRIM42 287015 broad.mit.edu 37 3 140397090 140397090 + Missense_Mutation SNP G G A rs116143762 by1000genomes TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:140397090G>A uc003eto.2 + 0 225 c.19G>A c.(19-21)Gtt>Att p.V7I NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 7 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGCTATGTGCGTTTGCTGTCC 0.507 ZIC4 84107 broad.mit.edu 37 3 147114065 147114065 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:147114065C>T uc011bno.2 - 2 598 c.412G>A c.(412-414)Gcc>Acc p.A138T ZIC4_uc003ewc.2_Missense_Mutation_p.A18T|ZIC4_uc021xff.1_Missense_Mutation_p.A126T|ZIC4_uc003ewd.2_Missense_Mutation_p.A88T|ZIC4_uc021xfg.1_Intron NM_001168378 NP_115529 Q8N9L1 ZIC4_HUMAN Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA. 88 nucleus DNA binding|zinc ion binding p.A88S(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GCTGCCAGGGCGTCGCTGCGG 0.701 VPS8 23355 broad.mit.edu 37 3 184571960 184571960 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:184571960G>A uc021xik.1 + 12 1123 c.1035_splice c.e12+1 p.R345_splice VPS8_uc003fpb.1_Splice_Site_p.R343_splice|VPS8_uc010hyd.1_Splice_Site_p.R343_splice NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 345 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CCCTATGGCCGGGTGAGTACG 0.413 SDHAP2 727956 broad.mit.edu 37 3 195410687 195410687 + Missense_Mutation SNP T T A rs6583274 by1000genomes TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:195410687T>A uc003fuw.3 + 12 1778 c.584T>A c.(583-585)gTg>gAg p.V195E SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. CCCTTTGAGGTGCACTGGAGG 0.567 MUC4 4585 broad.mit.edu 37 3 195505849 195505849 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr3:195505849G>A uc021xjp.1 - 1 12758 c.12602C>T c.(12601-12603)gCa>gTa p.A4201V MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 964 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATGCTGAGGAAGT 0.592 TLR6 10333 broad.mit.edu 37 4 38830788 38830788 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr4:38830788C>T uc010ifg.2 - 1 428 c.307G>A c.(307-309)Gaa>Aaa p.E103K TLR6_uc003gtm.3_Missense_Mutation_p.E103K NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN Homo sapiens toll-like receptor 6 (TLR6), mRNA. 103 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCCAAATATTCTAAATCCTGG 0.363 PRDM8 56978 broad.mit.edu 37 4 81123201 81123201 + Silent SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr4:81123201C>T uc010ijo.3 + 7 1424 c.585C>T c.(583-585)ggC>ggT p.G195G PRDM8_uc003hmb.4_Silent_p.G195G|PRDM8_uc003hmc.4_Silent_p.G195G NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 195 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 AACAAggcggcggcgtgggca 0.617 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HHIP 64399 broad.mit.edu 37 4 145580881 145580881 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr4:145580881G>A uc003ijs.2 + 3 1402 c.722G>A c.(721-723)cGt>cAt p.R241H HHIP_uc003ijr.2_Missense_Mutation_p.R241H NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 241 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GGCTCGCAACGTCTCTTCATT 0.453 HCN1 348980 broad.mit.edu 37 5 45262309 45262309 + Missense_Mutation SNP T T A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:45262309T>A uc003jok.3 - 7 2412 c.2387A>T c.(2386-2388)gAg>gTg p.E796V NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 796 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGTGGACACCTCATGGGGCAG 0.632 PJA2 9867 broad.mit.edu 37 5 108680493 108680493 + Missense_Mutation SNP C C A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:108680493C>A uc003kos.4 - 7 2012 c.1792G>T c.(1792-1794)Gca>Tca p.A598S NM_014819 NP_055634 O43164 PJA2_HUMAN Homo sapiens praja ring finger 2 (PJA2), mRNA. 598 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) ACATCCACTGCAAGAGACTCT 0.408 GNPDA1 10007 broad.mit.edu 37 5 141385836 141385838 + In_Frame_Del DEL GAA GAA - TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:141385836_141385838delGAA uc003lmf.4 - 2 1039_1041 c.280_282delTTC c.(280-282)ttcdel p.F94del GNPDA1_uc003lmg.4_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.3_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.4_In_Frame_Del_p.F60del NM_005471 NP_005462 P46926 GNPI1_HUMAN Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA. 94 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity central_nervous_system(1)|lung(1)|skin(3)|stomach(1) 6 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGTGCTTGAAGAAGTTGTTC 0.527 CPEB4 80315 broad.mit.edu 37 5 173317554 173317554 + Frame_Shift_Del DEL A A - TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr5:173317554delA uc003mcs.4 + 0 2224 c.818delA c.(817-819)catfs p.H273fs CPEB4_uc010jju.2_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.H273fs|CPEB4_uc003mcu.4_5'Flank NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA. 273 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGCTGCCTCATTTGGCGAAT 0.557 PRSS16 10279 broad.mit.edu 37 6 27220721 27220721 + Silent SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:27220721C>T uc003nja.3 + 8 1158 c.1143C>T c.(1141-1143)ttC>ttT p.F381F PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.F124F|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njd.3_Intron NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 381 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity p.F381F(2) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GTACCGAGTTCGGCTTCTGTA 0.507 Unknown 653639 broad.mit.edu 37 6 33333916 33333916 + Missense_Mutation SNP G G T rs116406518 by1000genomes TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:33333916G>T DAXX (43123 upstream) : KIFC1 (25397 downstream) TGTGCCCTGTGTCTCCAAGTC 0.562 UHRF1BP1 54887 broad.mit.edu 37 6 34838669 34838669 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:34838669C>T uc003oju.4 + 17 3991 c.3757C>T c.(3757-3759)Cac>Tac p.H1253Y UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1253 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GAAGACTGGCCACATCAGGCC 0.498 EEF1A1 1915 broad.mit.edu 37 6 74227627 74227627 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:74227627G>A uc003phi.3 - 6 2287 c.1295C>T c.(1294-1296)aCa>aTa p.T432I EEF1A1_uc003phj.3_Missense_Mutation_p.T432I|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron NM_001402 NP_001393 P68104 EF1A1_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA. 432 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CACCGCAACTGTCTGTCTCAT 0.403 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TMEM30A 55754 broad.mit.edu 37 6 75968538 75968538 + Missense_Mutation SNP G G C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:75968538G>C uc003phw.2 - 5 1128 c.850C>G c.(850-852)Cca>Gca p.P284A TMEM30A_uc003phx.2_Missense_Mutation_p.P248A NM_018247 NP_060717 Q9NV96 CC50A_HUMAN Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA. 284 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGTAATGTTGGATGTAAATCA 0.388 TTK 7272 broad.mit.edu 37 6 80746263 80746263 + Missense_Mutation SNP G G C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:80746263G>C uc003pjc.3 + 16 2107 c.1996G>C c.(1996-1998)Ggg>Cgg p.G666R TTK_uc003pjb.4_Missense_Mutation_p.G665R NM_003318 NP_003309 P33981 TTK_HUMAN Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA. 666 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AATTGATTTTGGGATTGCAAA 0.323 MYB 4602 broad.mit.edu 37 6 135514998 135514998 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr6:135514998C>T uc003qfh.3 + 6 984 c.785C>T c.(784-786)cCt>cTt p.P262L MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P262L|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.P74L|MYB_uc010kgi.3_Missense_Mutation_p.P262L|MYB_uc003qfq.3_Missense_Mutation_p.P262L|MYB_uc010kgj.3_Missense_Mutation_p.P262L|MYB_uc003qfo.3_Missense_Mutation_p.P262L|MYB_uc003qfu.3_Missense_Mutation_p.P262L|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P262L|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank NM_001130173 NP_001123645 P10242 MYB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA. 262 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GTTCCATACCCTGTAGCGTTA 0.453 T NFIB adenoid cystic carcinoma EGFR 1956 broad.mit.edu 37 7 55221822 55221823 + Missense_Mutation DNP CC CC TT rs149840192 TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:55221822_55221823CC>TT uc003tqk.3 + 6 1112_1113 c.866_867CC>TT c.(865-867)gcc>gTT p.A289V EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTGA 0.594 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) GPR85 54329 broad.mit.edu 37 7 112724771 112724771 + Silent SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:112724771C>T uc010ljv.2 - 1 523 c.6G>A c.(4-6)gcG>gcA p.A2A GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A|GPR85_uc022akd.1_Silent_p.A2A NM_001146266 NP_061843 P60893 GPR85_HUMAN Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA. 2 integral to membrane|plasma membrane G-protein coupled receptor activity p.A2V(1)|p.A2G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 GGCTATAGTTCGCCATAGATG 0.403 DENND2A 27147 broad.mit.edu 37 7 140267052 140267052 + Missense_Mutation SNP T T C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:140267052T>C uc010lnk.3 - 8 2133 c.1613A>G c.(1612-1614)aAc>aGc p.N538S DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.N538S|DENND2A_uc003vvw.3_Missense_Mutation_p.N538S|DENND2A_uc003vvx.3_Missense_Mutation_p.N538S NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 538 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GGACTTCACGTTGACCAGGCG 0.567 GBX1 2636 broad.mit.edu 37 7 150845924 150845924 + Missense_Mutation SNP A A T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr7:150845924A>T uc011kvg.2 - 1 1076 c.844T>A c.(844-846)Tgc>Agc p.C282S NM_001098834 NP_001092304 Q14549 GBX1_HUMAN Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA. 282 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) TATTTCTTGCAATGAAATTCC 0.557 RPS20 6224 broad.mit.edu 37 8 56985787 56985787 + Silent SNP A A T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr8:56985787A>T uc003xsm.2 - 3 420 c.222T>A c.(220-222)tcT>tcA p.S74S RPS20_uc003xsn.2_Silent_p.S74S NM_001146227 NP_001139699 P60866 RS20_HUMAN Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA. 74 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) CCCACGTCTTAGAACCTTCAC 0.388 ARFGEF1 10565 broad.mit.edu 37 8 68140324 68140327 + Frame_Shift_Del DEL TAAT TAAT - TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr8:68140324_68140327delTAAT uc003xxo.2 - 24 3852_3855 c.3462_3465delATTA c.(3460-3465)gaattafs p.E1154fs ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.2_Frame_Shift_Del_p.E137fs NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 1154 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCGTGGAAAGTAATTCATCCATAG 0.343 EIF2C2 27161 broad.mit.edu 37 8 141570507 141570507 + Silent SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr8:141570507C>T uc003yvn.3 - 4 662 c.621G>A c.(619-621)cgG>cgA p.R207R EIF2C2_uc010meo.3_Silent_p.R207R|EIF2C2_uc010men.3_Silent_p.R130R NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 207 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) AGAGAGAAGGCCGGACGGACT 0.622 IFNA10 3446 broad.mit.edu 37 9 21206995 21206995 + Silent SNP A A G TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:21206995A>G uc003zoq.1 - 0 148 c.102T>C c.(100-102)aaT>aaC p.N34N IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN Homo sapiens interferon, alpha 10 (IFNA10), mRNA. 34 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) AGGCCCTCCTATTACCCAGGC 0.512 KIAA0368 23392 broad.mit.edu 37 9 114188086 114188086 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:114188086C>T uc004bfe.1 - 11 1607 c.1607G>A c.(1606-1608)gGt>gAt p.G536D KIAA0368_uc010muc.1_Missense_Mutation_p.G358D NM_001080398 NP_001073867 Homo sapiens KIAA0368 (KIAA0368), mRNA. NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TGTATTTGTACCAAAAAGTCC 0.254 CDK5RAP2 55755 broad.mit.edu 37 9 123156840 123156840 + Missense_Mutation SNP A A C TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:123156840A>C uc004bkf.3 - 35 5709 c.5528T>G c.(5527-5529)aTg>aGg p.M1843R CDK5RAP2_uc010mvi.3_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.3_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 1843 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CAAAAGCTTCATGGTGTTTTG 0.428 OR1J1 347168 broad.mit.edu 37 9 125239745 125239745 + Missense_Mutation SNP G G A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chr9:125239745G>A uc011lyu.2 - 0 461 c.461C>T c.(460-462)gCg>gTg p.A154V OR1J2_uc004bmj.2_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AAGAGCACACGCACAAGCGAT 0.542 PCDH11Y 83259 broad.mit.edu 37 Y 5605524 5605524 + Silent SNP C C A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7773738f-f5dd-48ae-870c-aa89aea77450 edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d g.chrY:5605524C>A uc004fqo.3 + 4 4298 c.3564C>A c.(3562-3564)ctC>ctA p.L1188L PCDH11Y_uc022ciy.1_5'Flank NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 1188 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CCATTGTTCTCTGCCACAGCC 0.582