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 CAMTA1 23261 broad.mit.edu 37 1 7798426 7798426 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:7798426C>T uc001aoi.3 + 15 4273 c.4066C>T c.(4066-4068)Cgg>Tgg p.R1356W CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.4_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.3_Missense_Mutation_p.R312W NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 1356 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGTGCGTCCACGGGAACCAAT 0.512 T WWTR1 epitheliod hemangioendothelioma PADI3 51702 broad.mit.edu 37 1 17575699 17575699 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:17575699G>A uc001bai.3 + 0 107 c.67G>A c.(67-69)Gtg>Atg p.V23M NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 23 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGTGGCTGGCGTGGAGACCCT 0.617 GRHL3 57822 broad.mit.edu 37 1 24663202 24663202 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:24663202C>T uc021oiw.1 + 3 727 c.497C>T c.(496-498)cCc>cTc p.P166L GRHL3_uc001bix.3_Missense_Mutation_p.P166L|GRHL3_uc021oix.1_Missense_Mutation_p.P120L|GRHL3_uc001biy.3_Missense_Mutation_p.P171L|GRHL3_uc001biz.3_Missense_Mutation_p.P73L NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 166 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TACCTGTTACCCACCACTGAT 0.602 MCOLN3 55283 broad.mit.edu 37 1 85499910 85499910 + Missense_Mutation SNP C C T rs144793042 byFrequency TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:85499910C>T uc001dkp.3 - 3 568 c.421G>A c.(421-423)Gtt>Att p.V141I MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA. 141 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) TGATTCCCAACGGAGACATTG 0.468 RGL1 23179 broad.mit.edu 37 1 183895313 183895313 + Nonsense_Mutation SNP A A T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:183895313A>T uc001gqm.3 + 18 2760 c.2299A>T c.(2299-2301)Aaa>Taa p.K767* RGL1_uc010pog.2_Nonsense_Mutation_p.K730*|RGL1_uc010poh.2_Nonsense_Mutation_p.K730*|RGL1_uc001gqo.3_Nonsense_Mutation_p.K732*|RGL1_uc010poi.2_Nonsense_Mutation_p.K703* NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 732 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity p.R766H(1) breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CATTTTGCGCAAAAAGAACTC 0.443 DISP1 84976 broad.mit.edu 37 1 223116326 223116326 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:223116326G>A uc001hnu.2 + 3 487 c.161G>A c.(160-162)gGa>gAa p.G54E NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 54 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) AGTCCAAATGGATGCCTGCAA 0.507 RYR2 6262 broad.mit.edu 37 1 237780709 237780709 + Missense_Mutation SNP G G C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:237780709G>C uc001hyl.1 + 37 5959 c.5839G>C c.(5839-5841)Gtc>Ctc p.V1947L NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1947 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATACAACGAAGTCATGCAAGC 0.448 RYR2 6262 broad.mit.edu 37 1 237863752 237863752 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr1:237863752G>A uc001hyl.1 + 64 9472 c.9352G>A c.(9352-9354)Gga>Aga p.G3118R RYR2_uc010pxz.1_Missense_Mutation_p.G73R NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3118 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCATCAGTTCGGAGAAGACCT 0.373 PCDH15 65217 broad.mit.edu 37 10 55755492 55755492 + Nonsense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr10:55755492G>A uc010qhy.1 - 21 3195 c.2800C>T c.(2800-2802)Cga>Tga p.R934* PCDH15_uc010qhq.2_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R929*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R936*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.R929* NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 929 Cadherin 9. 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 p.G933G(1) 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) TTGTATATTCGTTTACTAAAG 0.408 HNSCC(58;0.16) STAMBPL1 57559 broad.mit.edu 37 10 90665247 90665247 + Silent SNP A A T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr10:90665247A>T uc001kfk.3 + 2 501 c.78A>T c.(76-78)ccA>ccT p.P26P STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.P26P|STAMBPL1_uc001kfm.3_5'Flank NM_020799 NP_065850 Q96FJ0 STALP_HUMAN Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA. 26 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) CCCTAAGCCCAGAAGAGCGAG 0.418 OR51S1 119692 broad.mit.edu 37 11 4870156 4870156 + Missense_Mutation SNP C C T rs143553379 TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:4870156C>T uc010qyo.2 - 0 283 c.283G>A c.(283-285)Gct>Act p.A95T NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAGCACCAGCAAGGGCGATG 0.537 C11orf16 56673 broad.mit.edu 37 11 8953775 8953775 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:8953775G>A uc001mhb.4 - 1 205 c.81C>T c.(79-81)gaC>gaT p.D27D C11orf16_uc001mhc.4_Silent_p.D27D NM_020643 NP_065694 Q9NQ32 CK016_HUMAN Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA. 27 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GAGCAGCACCGTCCCAGCCAG 0.622 FOLH1 2346 broad.mit.edu 37 11 49175930 49175930 + Nonsense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:49175930G>A uc001ngy.3 - 15 1999 c.1738C>T c.(1738-1740)Cga>Tga p.R580* FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272* NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 580 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATCCCTCCTCGAACCTGGGCC 0.413 OR5D18 219438 broad.mit.edu 37 11 55587854 55587854 + Missense_Mutation SNP C C A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:55587854C>A uc010rin.2 + 0 749 c.749C>A c.(748-750)aCc>aAc p.T250N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I249I(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ACTGCCATCACCATCTTCCAT 0.517 MS4A7 58475 broad.mit.edu 37 11 60150731 60150731 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:60150731C>T uc001npe.3 + 1 262 c.117C>T c.(115-117)aaC>aaT p.N39N MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA. 39 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 ACCTGCAGAACGGGCTGCCAA 0.438 FAU 2197 broad.mit.edu 37 11 64889007 64889007 + Missense_Mutation SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:64889007A>G uc001ocx.3 - 2 304 c.185T>C c.(184-186)cTg>cCg p.L62P MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank NM_001997 NP_001988 P35544 UBIM_HUMAN Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA. 62 NS(3)|kidney(1)|large_intestine(2) 6 CAGGGTAGTCAGGGCCTCCAC 0.612 FOLH1B 219595 broad.mit.edu 37 11 89424164 89424164 + Nonsense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:89424164C>T uc001pda.3 + 10 1340 c.814C>T c.(814-816)Cga>Tga p.R272* NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 272 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.V271F(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GGCCCAGGTTCGAGGAGGGAT 0.408 MPZL2 10205 broad.mit.edu 37 11 118130818 118130818 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:118130818G>A uc001psn.3 - 3 918 c.535C>T c.(535-537)Cgg>Tgg p.R179W MPZL2_uc001pso.3_Missense_Mutation_p.R179W NM_005797 NP_658911 O60487 MPZL2_HUMAN Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA. 179 anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CGCTTTTTCCGGTAATGCTGG 0.478 CHEK1 1111 broad.mit.edu 37 11 125503112 125503112 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr11:125503112G>A uc009zbo.3 + 5 1376 c.479G>A c.(478-480)cGt>cAt p.R160H CHEK1_uc010sbi.2_Missense_Mutation_p.R160H|CHEK1_uc010sbh.2_Missense_Mutation_p.R176H|CHEK1_uc001qcf.4_Missense_Mutation_p.R160H|CHEK1_uc009zbp.3_Missense_Mutation_p.R160H|CHEK1_uc001qcg.4_Missense_Mutation_p.R160H NM_001114122 NP_001107594 O14757 CHK1_HUMAN Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA. 160 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.R160H(2) central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TATAATAATCGTGAGCGTTTG 0.363 Other conserved DNA damage response genes TEAD4 7004 broad.mit.edu 37 12 3128315 3128315 + Nonsense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:3128315C>T uc010sej.2 + 7 854 c.562C>T c.(562-564)Cag>Tag p.Q188* TEAD4_uc010sek.2_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.3_Nonsense_Mutation_p.Q59* NM_201443 NP_958851 Q15561 TEAD4_HUMAN Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA. 188 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CTATGCTGTCCAGCCTCCGCT 0.677 TAS2R30 259293 broad.mit.edu 37 12 11286159 11286159 + Nonsense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:11286159G>A uc009zhs.1 - 0 685 c.685C>T c.(685-687)Caa>Taa p.Q229* PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_001097643 NP_001091112 Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA. autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 GTCACAGTTTGCAAAGCTTTT 0.418 PIK3C2G 5288 broad.mit.edu 37 12 18658236 18658236 + Missense_Mutation SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:18658236A>G uc001rdt.3 + 22 3157 c.3041A>G c.(3040-3042)aAc>aGc p.N1014S PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.2_Missense_Mutation_p.N833S NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1014 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.N1014S(2) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GCCTTGAGGAACTTTTTCTAC 0.378 PPFIBP1 8496 broad.mit.edu 37 12 27841240 27841240 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:27841240G>A uc001ric.2 + 24 2775 c.2398G>A c.(2398-2400)Gcc>Acc p.A800T PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank NM_177444 NP_803193 Q86W92 LIPB1_HUMAN Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA. 800 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GAATACCATCGCCCCATCAGA 0.468 SCN8A 6334 broad.mit.edu 37 12 52200784 52200784 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:52200784C>T uc001ryw.3 + 26 5692 c.5514C>T c.(5512-5514)agC>agT p.S1838S SCN8A_uc010snl.2_Silent_p.S1797S NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1838 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CAATGGTGAGCGGGGATCGCA 0.562 LUM 4060 broad.mit.edu 37 12 91502375 91502375 + Missense_Mutation SNP G G T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:91502375G>T uc001tbm.3 - 1 771 c.382C>A c.(382-384)Ctg>Atg p.L128M NM_002345 NP_002336 P51884 LUM_HUMAN Homo sapiens lumican (LUM), mRNA. 128 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.L128M(2) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 GACTCTGTCAGGTTGTTGTGG 0.418 SDS 10993 broad.mit.edu 37 12 113835119 113835119 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr12:113835119G>A uc001tvg.3 - 5 626 c.504C>T c.(502-504)ggC>ggT p.G168G SDS_uc001tvh.1_Silent_p.G168G NM_006843 NP_006834 P20132 SDHL_HUMAN Homo sapiens serine dehydratase (SDS), mRNA. 168 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding p.G168G(2) large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGCCCCCGCCGCCCACTGACA 0.662 FAM123A 219287 broad.mit.edu 37 13 25745233 25745233 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr13:25745233G>A uc001uqb.3 - 0 625 c.525C>T c.(523-525)aaC>aaT p.N175N FAM123A_uc001uqa.3_Silent_p.N175N|FAM123A_uc001uqc.3_Silent_p.N175N NM_152704 NP_689917 Q8N7J2 F123A_HUMAN Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA. 175 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CTCCCTTGCCGTTTTCCGAGC 0.677 PAN3 255967 broad.mit.edu 37 13 28840979 28840979 + Missense_Mutation SNP A A T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr13:28840979A>T uc001urz.3 + 9 1691 c.1539A>T c.(1537-1539)aaA>aaT p.K513N PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.3_Missense_Mutation_p.K201N|PAN3_uc001urx.3_Missense_Mutation_p.K313N NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 513 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TAAACAGCAAAGATGATCTGC 0.373 STARD13 90627 broad.mit.edu 37 13 33704189 33704189 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr13:33704189G>A uc001uuw.3 - 4 751 c.625C>T c.(625-627)Cgc>Tgc p.R209C STARD13_uc001uuu.3_Missense_Mutation_p.R201C|STARD13_uc001uuv.3_Missense_Mutation_p.R91C|STARD13_uc001uux.3_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C|STARD13_uc021rhz.1_Missense_Mutation_p.R201C|STARD13_uc021ria.1_Missense_Mutation_p.R91C NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 209 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GGCTGGCTGCGACTGTCGCTG 0.627 LRFN5 145581 broad.mit.edu 37 14 42356674 42356674 + Missense_Mutation SNP T T A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr14:42356674T>A uc001wvm.3 + 2 2044 c.846T>A c.(844-846)ttT>ttA p.F282L LRFN5_uc010ana.3_Missense_Mutation_p.F282L NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 282 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAGAAGAGTTTTTGTGTGAGC 0.502 HNSCC(30;0.082) PPP2R5E 5529 broad.mit.edu 37 14 63858710 63858710 + Missense_Mutation SNP C C A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr14:63858710C>A uc001xgd.1 - 8 1473 c.883G>T c.(883-885)Gat>Tat p.D295Y PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_Non-coding_Transcript NM_006246 NP_006237 Q16537 2A5E_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA. 295 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) AGTGAAGGATCTTTCTCCAGA 0.294 PAPLN 89932 broad.mit.edu 37 14 73717702 73717702 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr14:73717702G>A uc010ttx.2 + 5 716 c.553G>A c.(553-555)Gtc>Atc p.V185I PAPLN_uc001xnw.4_Missense_Mutation_p.V185I|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.V185I NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 185 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CTGCTACCCCGTCGCAGGCAC 0.632 CRIP1 1396 broad.mit.edu 37 14 105954816 105954816 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr14:105954816C>T uc001yri.4 + 4 316 c.202C>T c.(202-204)Cgg>Tgg p.R68W C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank NM_001311 NP_001302 P50238 CRIP1_HUMAN Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA. 68 Gly-rich. cell proliferation cytoplasm zinc ion binding Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.235) AGGCTTTGGGCGGGGCGGAGC 0.632 HDC 3067 broad.mit.edu 37 15 50549631 50549631 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr15:50549631G>A uc001zxz.3 - 3 774 c.432C>T c.(430-432)ggC>ggT p.G144G HDC_uc010uff.2_Silent_p.G144G|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.G144G NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 144 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CCTGCAGGACGCCTCCGCCCT 0.562 ADCY9 115 broad.mit.edu 37 16 4033425 4033425 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr16:4033425G>A uc002cvx.3 - 6 2866 c.2327C>T c.(2326-2328)cCc>cTc p.P776L NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 776 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CGTCTTCACGGGGGAGTTCTT 0.562 MYH11 4629 broad.mit.edu 37 16 15844112 15844112 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr16:15844112C>T uc002ddx.3 - 16 2069 c.1962G>A c.(1960-1962)aaG>aaA p.K654K MYH11_uc002ddv.3_Silent_p.K654K|MYH11_uc002ddw.3_Silent_p.K647K|MYH11_uc002ddy.3_Silent_p.K647K|MYH11_uc010bvg.3_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 647 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GGAACATGCCCTTCTTGGTCT 0.627 T CBFB AML CD2BP2 10421 broad.mit.edu 37 16 30364599 30364599 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr16:30364599G>A uc002dxr.3 - 4 1071 c.818C>T c.(817-819)tCg>tTg p.S273L CD2BP2_uc002dxs.3_Missense_Mutation_p.S273L NM_001243646 NP_001230575 O95400 CD2B2_HUMAN Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA. 273 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding p.S273S(1) breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 ATCTCCCCGCGACTCTGCTTC 0.572 HYDIN 54768 broad.mit.edu 37 16 70867931 70867931 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr16:70867931C>T uc002ezr.3 - 78 13686 c.13535G>A c.(13534-13536)cGc>cAc p.R4512H HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4513 p.R4464H(1)|p.R4512H(1) 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) GAAGAGGGGGCGCAGGAGCCC 0.557 HYDIN 54768 broad.mit.edu 37 16 71026070 71026070 + Missense_Mutation SNP G G T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr16:71026070G>T uc002ezr.3 - 23 3839 c.3688C>A c.(3688-3690)Cag>Aag p.Q1230K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1230 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) GACTCCATCTGGGACACTGGG 0.498 YWHAE 7531 broad.mit.edu 37 17 1257637 1257637 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr17:1257637C>T uc002fsj.3 - 4 735 c.583G>A c.(583-585)Gca>Aca p.A195T YWHAE_uc002fsk.3_Missense_Mutation_p.A173T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript NM_006761 NP_006752 P62258 1433E_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA. 195 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding p.A195T(3) kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) GCTGCTTTTGCCAACCTAAAG 0.348 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome SLFN12L 342615 broad.mit.edu 37 17 33806205 33806205 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr17:33806205C>T uc002hjn.3 - 2 1825 c.1111G>A c.(1111-1113)Gtg>Atg p.V371M SLFN12L_uc021tuy.1_Missense_Mutation_p.V342M NM_001195790 NP_001182719 Q6IEE8 SN12L_HUMAN Homo sapiens schlafen family member 12-like (SLFN12L), mRNA. 374 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 TTATCTTTCACGTGCCAGGAA 0.448 KRT13 3860 broad.mit.edu 37 17 39659272 39659272 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr17:39659272G>A uc002hwu.1 - 3 877 c.814C>T c.(814-816)Cgc>Tgc p.R272C KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc010wfr.2_Missense_Mutation_p.R165C|KRT13_uc010cxo.3_Missense_Mutation_p.R272C|KRT13_uc021txk.1_Missense_Mutation_p.R165C NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 272 Linker 12.|Rod. epidermis development intermediate filament structural molecule activity p.R272S(2)|p.R272R(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GCCAGCACGCGGGTCAGGTCA 0.602 DHX58 79132 broad.mit.edu 37 17 40259776 40259776 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr17:40259776C>T uc002hyw.3 - 7 1066 c.843G>A c.(841-843)gcG>gcA p.A281A DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.A274A NM_024119 NP_077024 Q96C10 DHX58_HUMAN Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA. 281 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCAGGTGAAGCGCATACACCC 0.657 B4GALNT2 124872 broad.mit.edu 37 17 47246247 47246247 + Nonsense_Mutation SNP C C T rs112740954 byFrequency TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr17:47246247C>T uc002ion.2 + 9 1539 c.1480C>T c.(1480-1482)Cga>Tga p.R494* B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434* NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 494 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CCGCCTGCAACGAGTGGCTCA 0.592 FASN 2194 broad.mit.edu 37 17 80045208 80045208 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr17:80045208C>T uc002kdu.3 - 19 3333 c.3216G>A c.(3214-3216)aaG>aaA p.K1072K FASN_uc002kdw.1_Silent_p.K288K NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1072 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TACCTTGGGCCTTGTCCTGCA 0.672 ZNF521 25925 broad.mit.edu 37 18 22902139 22902139 + Missense_Mutation SNP T T C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr18:22902139T>C uc002kvk.2 - 2 300 c.53A>G c.(52-54)aAa>aGa p.K18R ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 18 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTCTTCAAGTTTACAGTTGGG 0.423 T PAX5 ALL SS18 6760 broad.mit.edu 37 18 23618584 23618584 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr18:23618584C>T uc002kvm.3 - 6 893 c.815G>A c.(814-816)gGg>gAg p.G272E SS18_uc002kvn.3_Missense_Mutation_p.G272E|SS18_uc010xbf.2_Missense_Mutation_p.G190E|SS18_uc010xbg.2_Missense_Mutation_p.G220E|SS18_uc010xbh.2_Missense_Mutation_p.G220E|SS18_uc010xbi.2_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E NM_001007559 NP_001007560 Q15532 SSXT_HUMAN Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA. 272 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding p.G272W(1) SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GTATTGGTCCCCGTAATAGTC 0.438 T """SSX1, SSX2""" synovial sarcoma TJP3 27134 broad.mit.edu 37 19 3746600 3746600 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:3746600C>T uc010xhv.2 + 15 2227 c.2227C>T c.(2227-2229)Cgc>Tgc p.R743C TJP3_uc010xhs.2_Missense_Mutation_p.R710C|TJP3_uc010xht.2_Missense_Mutation_p.R674C|TJP3_uc010xhu.2_Missense_Mutation_p.R719C|TJP3_uc010xhw.2_Missense_Mutation_p.R729C NM_014428 NP_055243 O95049 ZO3_HUMAN Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA. 724 Guanylate kinase-like. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGGCACTGCGCCAGTGGCT 0.647 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:11022906C>T uc002mpz.3 + 4 731 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR NM_199141 NP_954592 Q86X55 CARM1_HUMAN Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA. 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(4) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622 CPAMD8 27151 broad.mit.edu 37 19 17007075 17007075 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:17007075C>T uc002nfb.3 - 40 5511 c.5479G>A c.(5479-5481)Ggg>Agg p.G1827R CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1780 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGTAAAGGCCCCGGGGCCACA 0.677 CPAMD8 27151 broad.mit.edu 37 19 17025572 17025572 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:17025572G>A uc002nfb.3 - 27 3854 c.3822C>T c.(3820-3822)ttC>ttT p.F1274F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1227 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGGGGTCCACGAAGATAAAGC 0.617 PSG4 5672 broad.mit.edu 37 19 43702421 43702421 + Missense_Mutation SNP G G C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:43702421G>C uc002ovy.3 - 2 539 c.437C>G c.(436-438)aCt>aGt p.T146S PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.T146S|PSG4_uc002owb.3_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 146 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGGCTTGGGAGTCTCCACTGT 0.517 ZNF234 10780 broad.mit.edu 37 19 44661986 44661986 + Frame_Shift_Del DEL G G - TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:44661986delG uc002oym.3 + 5 2124 c.1817delG c.(1816-1818)agtfs p.S606fs ZNF234_uc002oyl.4_Frame_Shift_Del_p.S606fs NM_006630 NP_006621 Q14588 ZN234_HUMAN Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA. 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) AAGCACTTCAGTCAGGCCTCA 0.468 NLRP2 55655 broad.mit.edu 37 19 55505643 55505643 + Nonsense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:55505643G>A uc021vbq.1 + 10 2826 c.2715G>A c.(2713-2715)tgG>tgA p.W905* NLRP2_uc010yfp.2_Nonsense_Mutation_p.W882*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W905*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W883*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W902* NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 905 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTAGGCTTTGGAACTGCGACA 0.483 NLRP8 126205 broad.mit.edu 37 19 56459556 56459556 + Silent SNP C C T rs146471073 TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr19:56459556C>T uc002qmh.3 + 0 359 c.288C>T c.(286-288)cgC>cgT p.R96R NLRP8_uc010etg.3_Silent_p.R96R NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 96 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGGACGACGCGCTTGGGATG 0.507 C2orf78 388960 broad.mit.edu 37 2 74040759 74040759 + Missense_Mutation SNP T T A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:74040759T>A uc002sjr.1 + 1 374 c.253T>A c.(253-255)Tct>Act p.S85T NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 85 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GCCATCAGCCTCTGGCACCTC 0.527 EDAR 10913 broad.mit.edu 37 2 109526984 109526984 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:109526984G>A uc010fjn.3 - 8 1378 c.831C>T c.(829-831)aaC>aaT p.N277N EDAR_uc010yws.2_Silent_p.N277N|EDAR_uc002teq.4_Silent_p.N245N NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 245 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 ACATCACCACGTTGTCTGCAG 0.552 PCDP1 200373 broad.mit.edu 37 2 120385326 120385326 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:120385326C>T uc002tmb.3 + 16 1868 c.756C>T c.(754-756)ttC>ttT p.F252F PCDP1_uc010yyq.2_Silent_p.F382F NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 538 cilium calmodulin binding Colorectal(110;0.196) CCTTCGCTTTCCCAGACTGCA 0.557 POTEE 445582 broad.mit.edu 37 2 131976471 131976471 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:131976471G>A uc002tsn.2 + 0 548 c.496G>A c.(496-498)Gtg>Atg p.V166M PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 166 ATP binding GGACACTGACGTGAACAAGAA 0.592 THSD7B 80731 broad.mit.edu 37 2 137814211 137814211 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:137814211C>T uc002tva.1 + 1 268 c.268C>T c.(268-270)Cgc>Tgc p.R90C THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCCTTACGCTCGCGGTGAAGT 0.542 XIRP2 129446 broad.mit.edu 37 2 168101563 168101563 + Missense_Mutation SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:168101563A>G uc002udx.3 + 8 3750 c.3661A>G c.(3661-3663)Aaa>Gaa p.K1221E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.3_Missense_Mutation_p.K999E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1046 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGAAGTTTTGAAAAAGATCAA 0.308 TTN 7273 broad.mit.edu 37 2 179469622 179469622 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:179469622C>T uc021vsy.1 - 229 46715 c.46490G>A c.(46489-46491)cGc>cAc p.R15497H MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9192H|TTN_uc021vta.1_Missense_Mutation_p.R9125H|TTN_uc021vtb.1_Missense_Mutation_p.R9000H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16424 Fibronectin type-III 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S15496T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGGATGGGCGGTCTGGAAA 0.418 UGT1A1 54579 broad.mit.edu 37 2 234621856 234621856 + Silent SNP C C T rs17874940 TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr2:234621856C>T uc002vuw.3 + 0 219 c.219C>T c.(217-219)aaC>aaT p.N73N UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.N73N NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. 72 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AAGAAGAGAACTTTTTCACCC 0.512 SLC32A1 140679 broad.mit.edu 37 20 37356997 37356997 + Nonsense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr20:37356997G>A uc002xjc.3 + 1 1556 c.1293G>A c.(1291-1293)tgG>tgA p.W431* NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 431 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGAAGTCCTGGGGGCTGACGC 0.662 SEMG2 6406 broad.mit.edu 37 20 43837278 43837278 + Missense_Mutation SNP G G A rs79500955 byFrequency TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr20:43837278G>A uc010ggz.3 + SEMG2_uc002xni.2_Missense_Mutation_p.R447H|SEMG2_uc002xnj.2_Missense_Mutation_p.R387H NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GACAGTGATCGTCATTTGGCA 0.398 EYA2 2139 broad.mit.edu 37 20 45811961 45811961 + Missense_Mutation SNP G G C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr20:45811961G>C uc002xsm.3 + 14 1832 c.1458G>C c.(1456-1458)agG>agC p.R486S EYA2_uc010ghp.3_Missense_Mutation_p.R407S|EYA2_uc002xsq.3_Missense_Mutation_p.R456S NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 486 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GCTTCGAGAGGATAATGCAGA 0.517 TSPEAR 54084 broad.mit.edu 37 21 45948429 45948429 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr21:45948429C>T uc002zfe.1 - 5 894 c.828G>A c.(826-828)ccG>ccA p.P276P TSPEAR_uc010gpv.1_Silent_p.P208P NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA. 276 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCTCGGTACACGGTGGCTGGG 0.577 GRM7 2917 broad.mit.edu 37 3 6903093 6903093 + Missense_Mutation SNP G G T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr3:6903093G>T uc003bqm.2 + 0 292 c.18G>T c.(16-18)aaG>aaT p.K6N GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 6 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AGCTGAGGAAGCTGCTCCGCG 0.721 PRKCD 5580 broad.mit.edu 37 3 53213676 53213676 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr3:53213676C>T uc003dgl.3 + 3 552 c.199C>T c.(199-201)Cgc>Tgc p.R67C PRKCD_uc003dgm.3_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C NM_006254 NP_997704 Q05655 KPCD_HUMAN Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA. 67 C2. Interaction with phosphotyrosine- containing peptide. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding p.R67C(2) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CTATGAGGGGCGCGTCATCCA 0.582 ST6GAL1 6480 broad.mit.edu 37 3 186791960 186791960 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr3:186791960C>T uc003frb.3 + 6 1451 c.818C>T c.(817-819)cCg>cTg p.P273L ST6GAL1_uc003frc.3_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P273L NM_173216 NP_775323 P15907 SIAT1_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA. 273 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.P273L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TACCAGAATCCGGATTATAAT 0.488 UGT2A1 10941 broad.mit.edu 37 4 70455275 70455275 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr4:70455275G>A uc011caq.2 - 6 2013 c.1897C>T c.(1897-1899)Cgc>Tgc p.R633C UGT2A1_uc010ihu.3_Missense_Mutation_p.R467C|UGT2A1_uc003hem.4_Missense_Mutation_p.R467C|UGT2A1_uc010ihs.3_Missense_Mutation_p.R476C|UGT2A1_uc021xox.1_Missense_Mutation_p.R432C|UGT2A1_uc010iht.3_Missense_Mutation_p.R423C NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 467 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CCTTTGTGGCGCATGACAAAC 0.478 FRAS1 80144 broad.mit.edu 37 4 79362349 79362349 + Missense_Mutation SNP C C A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr4:79362349C>A uc003hlb.2 + 40 6003 c.5563C>A c.(5563-5565)Cac>Aac p.H1855N FRAS1_uc003hkw.3_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.2_Missense_Mutation_p.H275N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1854 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACTCTCATTTCACCATTTTTT 0.418 OSTC 58505 broad.mit.edu 37 4 109571929 109571929 + Missense_Mutation SNP T T C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr4:109571929T>C uc003hzb.1 + 0 189 c.118T>C c.(118-120)Tct>Cct p.S40P NM_021227 NP_067050 Q9NRP0 OSTC_HUMAN Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA. 40 integral to membrane|oligosaccharyltransferase complex breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 GGTGGTGGTGTCTTACTTCCT 0.612 DCHS2 54798 broad.mit.edu 37 4 155226289 155226289 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr4:155226289G>A uc003inw.2 - 15 3990 c.3990C>T c.(3988-3990)acC>acT p.T1330T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1330 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T1329K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGTCAAGTATGGTGGTTGTCA 0.343 TKTL2 84076 broad.mit.edu 37 4 164393803 164393803 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr4:164393803G>A uc003iqp.4 - 0 1245 c.1084C>T c.(1084-1086)Cgt>Tgt p.R362C NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 362 cytoplasm metal ion binding|transketolase activity p.R362H(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTATGAAACGCTCAGGGTGT 0.453 IRF2 3660 broad.mit.edu 37 4 185329382 185329382 + Silent SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr4:185329382A>G uc003iwf.4 - 5 659 c.459T>C c.(457-459)gaT>gaC p.D153D NM_002199 NP_002190 P14316 IRF2_HUMAN Homo sapiens interferon regulatory factor 2 (IRF2), mRNA. 153 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) CAGGAGAAAGATCACTTACTC 0.388 TERT 7015 broad.mit.edu 37 5 1280302 1280302 + Nonsense_Mutation SNP C C A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr5:1280302C>A uc003jcb.1 - 3 1979 c.1921G>T c.(1921-1923)Gga>Tga p.G641* TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Nonsense_Mutation_p.G93* NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 641 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GTTCTGGCTCCCACGACGTAG 0.557 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis SLC6A3 6531 broad.mit.edu 37 5 1422128 1422128 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr5:1422128G>A uc003jck.3 - 5 780 c.654_splice c.e5-1 p.E218_splice NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 218 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGCACGCCACGTCTGCAGAGG 0.667 PCDHAC2 56147 broad.mit.edu 37 5 140166017 140166017 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr5:140166017G>A uc003lhb.2 + 0 142 c.142G>A c.(142-144)Gtt>Att p.V48I PCDHAC2_uc003lha.2_Missense_Mutation_p.V48I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V48I NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.V48I(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTGGCCGCGTTGCTCAGGA 0.627 FAT2 2196 broad.mit.edu 37 5 150924338 150924338 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr5:150924338C>T uc003lue.4 - 8 6363 c.6350G>A c.(6349-6351)cGa>cAa p.R2117Q NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2117 Cadherin 18. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.R2117*(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGGTCAATTCGGAAATATGT 0.433 GABRA1 2554 broad.mit.edu 37 5 161318009 161318009 + Missense_Mutation SNP T T C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr5:161318009T>C uc010jiw.3 + 8 1277 c.809T>C c.(808-810)gTc>gCc p.V270A GABRA1_uc010jix.3_Missense_Mutation_p.V270A|GABRA1_uc010jiy.3_Missense_Mutation_p.V270A|GABRA1_uc003lyx.4_Missense_Mutation_p.V270A|GABRA1_uc010jiz.3_Missense_Mutation_p.V270A|GABRA1_uc010jja.3_Missense_Mutation_p.V270A|GABRA1_uc010jjb.3_Missense_Mutation_p.V270A NM_000806 NP_001121120 P14867 GBRA1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. 270 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CTCTCACAAGTCTCCTTCTGG 0.408 TAP1 6890 broad.mit.edu 37 6 32815851 32815851 + Missense_Mutation SNP G G A rs149070070 byFrequency TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:32815851G>A uc003ocg.3 - 7 1920 c.1765C>T c.(1765-1767)Cgc>Tgc p.R589C TAP1_uc011dqi.2_Missense_Mutation_p.R328C NM_000593 NP_000584 Q03518 TAP1_HUMAN Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA. 589 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 TCGCCAGGGCGTAGGGTGAAT 0.582 RUNX2 860 broad.mit.edu 37 6 45514681 45514681 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:45514681C>T uc011dvx.2 + 8 1415 c.1205C>T c.(1204-1206)cCg>cTg p.P402L RUNX2_uc011dvy.2_Missense_Mutation_p.P380L|RUNX2_uc003oxt.3_Missense_Mutation_p.P388L NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. 402 Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 ACTTACACCCCGCCAGTCACC 0.577 ZNF292 23036 broad.mit.edu 37 6 87969728 87969728 + Missense_Mutation SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:87969728A>G uc003plm.4 + 7 6422 c.6381A>G c.(6379-6381)atA>atG p.I2127M NM_015021 NP_055836 O60281 ZN292_HUMAN Homo sapiens zinc finger protein 292 (ZNF292), mRNA. 2127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CCTTTACGATACAGCAAAACT 0.438 LAMA2 3908 broad.mit.edu 37 6 129371228 129371228 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:129371228C>T uc021zfb.1 + 1 383 c.278C>T c.(277-279)cCa>cTa p.P93L LAMA2_uc003qbn.3_Missense_Mutation_p.P93L|LAMA2_uc003qbo.3_Missense_Mutation_p.P93L NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 93 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.P93T(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGCAGCAATCCAAACCGTATG 0.438 GRM1 2911 broad.mit.edu 37 6 146720521 146720521 + Silent SNP C C T rs145874853 byFrequency TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:146720521C>T uc010khw.1 + 7 2816 c.2346C>T c.(2344-2346)aaC>aaT p.N782N GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 782 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.N782I(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCAACTTCAACGAGGCCAAAT 0.502 GRM1 2911 broad.mit.edu 37 6 146755247 146755247 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:146755247G>A uc010khw.1 + 8 3370 c.2900G>A c.(2899-2901)cGc>cAc p.R967H GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 967 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R967H(2) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAGCCGATTCGCTTTAGCCCG 0.602 C6orf211 79624 broad.mit.edu 37 6 151789616 151789616 + Missense_Mutation SNP C C G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:151789616C>G uc003qok.1 + 4 956 c.697C>G c.(697-699)Ctt>Gtt p.L233V C6orf211_uc011ees.1_Missense_Mutation_p.L114V NM_024573 NP_078849 Q9H993 CF211_HUMAN Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA. 233 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) TTGGTCATTGCTTAGCAATTG 0.328 MYCT1 80177 broad.mit.edu 37 6 153043291 153043291 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr6:153043291G>A uc003qpc.4 + 1 619 c.611G>A c.(610-612)cGt>cAt p.R204H NM_025107 NP_079383 Q8N699 MYCT1_HUMAN Homo sapiens myc target 1 (MYCT1), mRNA. 204 nucleus p.R204H(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) AGTCTGAGCCGTCCTGACTAC 0.532 HDAC9 9734 broad.mit.edu 37 7 18788727 18788727 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr7:18788727G>A uc003sui.3 + 12 2050 c.2009G>A c.(2008-2010)cGa>cAa p.R670Q HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 667 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.R670L(3) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ATCTGGTCACGACTGCAAGAA 0.438 ZPBP 11055 broad.mit.edu 37 7 50097612 50097612 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr7:50097612G>A uc003tou.3 - 3 530 c.460C>T c.(460-462)Cgt>Tgt p.R154C ZPBP_uc010kyw.3_Missense_Mutation_p.R153C NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 154 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AGTTGAAGACGTTTAACAATT 0.294 POM121L12 285877 broad.mit.edu 37 7 53103630 53103630 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr7:53103630C>T uc003tpz.3 + 0 282 c.266C>T c.(265-267)cCg>cTg p.P89L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 89 p.P89P(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCGCCAAGCCGCAGCGGGTG 0.692 SEMA3C 10512 broad.mit.edu 37 7 80387693 80387693 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr7:80387693C>T uc011kgw.2 - 14 1730 c.1651G>A c.(1651-1653)Gcc>Acc p.A551T SEMA3C_uc003uhj.3_Missense_Mutation_p.A533T NM_006379 NP_006370 Q99985 SEM3C_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA. 533 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCATCCCAGGCGCAATAAGGG 0.537 PDK4 5166 broad.mit.edu 37 7 95216404 95216404 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr7:95216404C>T uc003uoa.3 - 9 1333 c.1013G>A c.(1012-1014)cGt>cAt p.R338H PDK4_uc003unz.3_Missense_Mutation_p.R126H NM_002612 NP_002603 Q16654 PDK4_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA. 338 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) TGCATACAGACGAGAAATTGG 0.378 KEL 3792 broad.mit.edu 37 7 142650962 142650962 + Missense_Mutation SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr7:142650962C>T uc003wcb.3 - 8 1216 c.1006G>A c.(1006-1008)Gtg>Atg p.V336M NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 336 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCATGGACCACGAGGGACTGA 0.537 TRPA1 8989 broad.mit.edu 37 8 72938268 72938268 + Missense_Mutation SNP C C A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr8:72938268C>A uc003xza.3 - 24 3153 c.2978G>T c.(2977-2979)tGg>tTg p.W993L LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA. 993 integral to plasma membrane p.W993S(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GCGTAGAAACCAAAGTGGCAG 0.363 DOCK8 81704 broad.mit.edu 37 9 286581 286581 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr9:286581G>A uc003zgf.2 + 2 389 c.277G>A c.(277-279)Gtg>Atg p.V93M DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc022bcu.1_Missense_Mutation_p.V25M|DOCK8_uc010mgv.3_Missense_Mutation_p.V25M|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Missense_Mutation_p.V25M|DOCK8_uc003zgg.3_Missense_Mutation_p.V25M|DOCK8_uc022bct.1_Non-coding_Transcript NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 93 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.V25M(1)|p.V25L(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CGACTTGGACGTGGTGTTCAC 0.498 GLIS3 169792 broad.mit.edu 37 9 4286000 4286000 + Silent SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chr9:4286000G>A uc003zhx.1 - GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Silent_p.N142N NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GAAAAAAATCGTTTCCATTTT 0.393 GPR143 4935 broad.mit.edu 37 X 9711643 9711643 + Frame_Shift_Del DEL C C - TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:9711643delC uc004cst.2 - 5 877 c.729delG c.(727-729)aagfs p.K243fs NM_000273 NP_000264 P51810 GP143_HUMAN Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. 243 calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Hepatocellular(5;0.000888) AAAATCGGATCTTGATCACGG 0.393 SCML2 10389 broad.mit.edu 37 X 18260650 18260650 + Missense_Mutation SNP G G T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:18260650G>T uc004cyl.2 - 13 2040 c.1883C>A c.(1882-1884)cCt>cAt p.P628H SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 628 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CCAGGTTGAAGGGTCCTTAGA 0.453 CNKSR2 22866 broad.mit.edu 37 X 21670464 21670464 + Missense_Mutation SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:21670464A>G uc004czx.2 + 21 3410 c.2930A>G c.(2929-2931)gAc>gGc p.D977G CNKSR2_uc011mjo.2_Missense_Mutation_p.D947G NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 977 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AAAGTCCTAGACAATCCAGAC 0.378 DMD 1756 broad.mit.edu 37 X 31986588 31986588 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:31986588G>A uc004dda.1 - 44 6726 c.6482C>T c.(6481-6483)aCa>aTa p.T2161I DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2161 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCATTCAATGTTCTGACAAC 0.428 PIM2 11040 broad.mit.edu 37 X 48771498 48771498 + Silent SNP C C A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:48771498C>A uc004dls.3 - 5 1148 c.846G>T c.(844-846)ctG>ctT p.L282L SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN Homo sapiens pim-2 oncogene (PIM2), mRNA. 282 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 TCCAGGGGTCCAGCAGGATCT 0.617 P2RY4 5030 broad.mit.edu 37 X 69478786 69478786 + Missense_Mutation SNP G G T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:69478786G>T uc004dxz.1 - 0 869 c.689C>A c.(688-690)cCc>cAc p.P230H NM_002565 NP_002556 P51582 P2RY4_HUMAN Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA. 230 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 GCCTGGCAAGGGCTGATACAG 0.582 KIF4A 24137 broad.mit.edu 37 X 69626855 69626855 + Missense_Mutation SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:69626855A>G uc004dyg.3 + 27 3328 c.3185A>G c.(3184-3186)gAt>gGt p.D1062G KIF4A_uc010nkw.3_Missense_Mutation_p.D1062G NM_012310 NP_036442 O95239 KIF4A_HUMAN Homo sapiens kinesin family member 4A (KIF4A), mRNA. 1062 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 gatggtgatgatgatgagggg 0.433 MED12 9968 broad.mit.edu 37 X 70351950 70351950 + Missense_Mutation SNP G G A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:70351950G>A uc004dyy.3 + 29 4346 c.4147G>A c.(4147-4149)Gcc>Acc p.A1383T MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.3_Missense_Mutation_p.A1383T|MED12_uc004dza.3_Missense_Mutation_p.A1230T|MED12_uc010nla.3_Missense_Mutation_p.A9T NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 1383 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GGAGAACATCGCCAAGGCCAC 0.507 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome DIAPH2 1730 broad.mit.edu 37 X 96171460 96171460 + Silent SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:96171460A>G uc004efu.4 + 7 1152 c.756A>G c.(754-756)ggA>ggG p.G252G DIAPH2_uc004eft.4_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G NM_006729 NP_006720 O60879 DIAP2_HUMAN Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA. 252 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GGATTCTAGGAGATGAAAGAA 0.299 RGAG1 57529 broad.mit.edu 37 X 109694565 109694565 + Silent SNP A A G TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:109694565A>G uc004eor.2 + 2 966 c.720A>G c.(718-720)gaA>gaG p.E240E RGAG1_uc011msr.1_Silent_p.E240E NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 240 p.T239S(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AAGACACCGAAGCAATGTCCA 0.468 ODZ1 10178 broad.mit.edu 37 X 123637433 123637433 + Missense_Mutation SNP T T C TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:123637433T>C uc010nqy.3 - 18 3486 c.3422A>G c.(3421-3423)cAt>cGt p.H1141R ODZ1_uc011muj.2_Missense_Mutation_p.H1140R|ODZ1_uc004euj.3_Missense_Mutation_p.H1141R NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 1141 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CAAAATGTGATGCTTATTCAA 0.358 GABRE 2564 broad.mit.edu 37 X 151129839 151129839 + Splice_Site SNP T T A TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:151129839T>A uc004ffi.3 - 5 618 c.564_splice c.e5-1 p.R188_splice GABRE_uc011myd.2_Splice_Site|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 188 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) ATGGTCATCCTGGAAGGGAGA 0.493 ATP2B3 492 broad.mit.edu 37 X 152801876 152801876 + Silent SNP C C T TCGA-06-0145-01A-01W-0224-08 TCGA-06-0145-10A-01W-0224-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8f904068-2967-4b38-8813-3ad0a99e4af8 bd8a3db7-c259-4894-8104-9c0aab126a49 g.chrX:152801876C>T uc004fht.1 + 0 297 c.171C>T c.(169-171)agC>agT p.S57S ATP2B3_uc004fhs.1_Silent_p.S57S NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA. 57 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGATGTCAGCGGGCTCTGCC 0.667