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 KIAA1751 85452 broad.mit.edu 37 1 1902133 1902133 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:1902133G>A uc001aim.1 - 9 1167 c.1011C>T c.(1009-1011)caC>caT p.H337H KIAA1751_uc009vkz.1_Silent_p.H337H NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 337 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GCCGGCGCTGGTGGACAAGGT 0.677 CHD5 26038 broad.mit.edu 37 1 6195434 6195434 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:6195434G>A uc001amb.2 - 17 2837 c.2726C>T c.(2725-2727)gCt>gTt p.A909V CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 909 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGAGATGTCAGCAAACTCCTC 0.602 ZMYM4 9202 broad.mit.edu 37 1 35836122 35836122 + Missense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:35836122G>T uc001byt.3 + 6 1155 c.1075G>T c.(1075-1077)Ggg>Tgg p.G359W ZMYM4_uc009vuu.3_Missense_Mutation_p.G327W|ZMYM4_uc001byu.3_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.3_Missense_Mutation_p.G98W|AF119915_uc001byv.2_5'Flank NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 359 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAGAGGAAAGGGTCTACTCA 0.483 EPS15 2060 broad.mit.edu 37 1 51869155 51869155 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:51869155T>C uc001csq.1 - 16 1819 c.1727A>G c.(1726-1728)gAg>gGg p.E576G EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G NM_001981 NP_001972 P42566 EPS15_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA. 576 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 TGTAGTCACCTCATTTTCATC 0.338 T MLL ALL ECHDC2 55268 broad.mit.edu 37 1 53370462 53370462 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:53370462C>T uc001cup.4 - 6 804 c.558G>A c.(556-558)gcG>gcA p.A186A ECHDC2_uc001cun.3_Silent_p.A109A|ECHDC2_uc001cuo.4_Silent_p.A155A|ECHDC2_uc021onl.1_Silent_p.A155A|ECHDC2_uc010onk.2_Silent_p.A140A NM_001198961 NP_001185890 Q86YB7 ECHD2_HUMAN Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA. 186 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 TGAGCTCCTTCGCCAGGGCCA 0.642 AMY2B 280 broad.mit.edu 37 1 104115707 104115710 + Frame_Shift_Del DEL TAAT TAAT - TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:104115707_104115710delTAAT uc010ouo.2 + 14 2042_2045 c.338_341delTAAT c.(337-342)gtaattfs p.V113fs AMY2B_uc001duq.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA. 113 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GTGGATGCTGTAATTAATCATATG 0.387 TXNIP 10628 broad.mit.edu 37 1 145439050 145439050 + Missense_Mutation SNP C C A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:145439050C>A uc001enn.4 + 0 589 c.248C>A c.(247-249)aCa>aAa p.T83K TXNIP_uc010oys.2_5'Flank NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN Homo sapiens thioredoxin interacting protein (TXNIP), mRNA. 83 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GACCAGCCAACAGGTAAGCGG 0.463 OR6K2 81448 broad.mit.edu 37 1 158669789 158669789 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:158669789G>A uc001fsu.1 - 0 654 c.654C>T c.(652-654)tcC>tcT p.S218S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TACCATCGTAGGACATGAAGA 0.478 CNTN2 6900 broad.mit.edu 37 1 205042816 205042816 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr1:205042816C>T uc001hbr.3 + 22 3315 c.3046C>T c.(3046-3048)Cgc>Tgc p.R1016C CNTN2_uc001hbs.3_Missense_Mutation_p.R804C NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 1016 axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CATGGCAGTCCGCCCAGCACC 0.607 ZMIZ1 57178 broad.mit.edu 37 10 81065892 81065892 + Missense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr10:81065892G>T uc001kaf.2 + 21 3031 c.2459G>T c.(2458-2460)tGc>tTc p.C820F ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 820 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GATCCCACGTGCAGCTGGCGG 0.607 PNLIP 5406 broad.mit.edu 37 10 118307871 118307871 + Splice_Site SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr10:118307871G>A uc001lcm.3 + 4 245 c.202_splice c.e4-1 p.E68_splice NM_000936 NP_000927 P16233 LIPP_HUMAN Homo sapiens pancreatic lipase (PNLIP), mRNA. 68 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGTCTAAACAGGAAGTTGCCG 0.388 KIAA1598 57698 broad.mit.edu 37 10 118728202 118728202 + Silent SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr10:118728202G>T uc021pzk.1 - 2 631 c.133C>A c.(133-135)Cga>Aga p.R45R KIAA1598_uc009xyw.3_Silent_p.R45R|KIAA1598_uc001lcz.4_Silent_p.R45R|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Silent_p.R15R NM_018330 NP_060800 A0MZ66 SHOT1_HUMAN Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA. 45 axon guidance axon p.E44K(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) GCTTCATCTCGTTCTTGCCTA 0.318 STIM1 6786 broad.mit.edu 37 11 4045179 4045179 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:4045179G>A uc021qco.1 + 2 915 c.347G>A c.(346-348)aGc>aAc p.S116N STIM1_uc001lyv.2_Missense_Mutation_p.S116N|STIM1_uc009yef.2_Missense_Mutation_p.S116N NM_003156 NP_003147 Q13586 STIM1_HUMAN Homo sapiens stromal interaction molecule 1 (STIM1), mRNA. 116 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) AAGCTCATCAGCGTGGAGGAC 0.488 OR8I2 120586 broad.mit.edu 37 11 55861310 55861310 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:55861310T>C uc010rix.2 + 0 527 c.527T>C c.(526-528)tTt>tCt p.F176S NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H175fs*10(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ATCAATCATTTTTTTTGTGAC 0.443 SLC22A9 114571 broad.mit.edu 37 11 63137793 63137793 + Missense_Mutation SNP C C T rs143461929 by1000genomes TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:63137793C>T uc001nww.3 + 0 533 c.265C>T c.(265-267)Cgt>Tgt p.R89C SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 89 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AGAGAAGTGTCGTCGCTTTGT 0.537 TSGA10IP 254187 broad.mit.edu 37 11 65714723 65714723 + Nonsense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:65714723C>T uc001ogk.1 + 3 456 c.424C>T c.(424-426)Cag>Tag p.Q142* TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA. 143 endometrium(2)|kidney(3)|lung(9) 14 CTCGTTCTCCCAGCGTCAGTC 0.657 MOGAT2 80168 broad.mit.edu 37 11 75439862 75439862 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:75439862C>T uc010rru.2 + 4 678 c.678C>T c.(676-678)ttC>ttT p.F226F MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Silent_p.F144F NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. 226 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) TCTTCTCCTTCGGGGAGAATG 0.537 GDPD4 220032 broad.mit.edu 37 11 76990356 76990356 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:76990356G>A uc001oyf.3 - 2 393 c.142C>T c.(142-144)Ctg>Ttg p.L48L NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA. 48 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTCACCAACAGCAATGAAGAG 0.433 AMOTL1 154810 broad.mit.edu 37 11 94532995 94532995 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:94532995G>A uc001pfb.3 + 2 809 c.639G>A c.(637-639)gcG>gcA p.A213A AMOTL1_uc001pfc.3_Silent_p.A163A NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN Homo sapiens angiomotin like 1 (AMOTL1), mRNA. 213 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) agcagGGGGCGGTGGGCCATG 0.612 CLDN25 644672 broad.mit.edu 37 11 113650759 113650759 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr11:113650759G>A uc009yyw.1 + 0 242 c.242G>A c.(241-243)cGc>cAc p.R81H NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN Homo sapiens claudin 25 (CLDN25), mRNA. 81 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 CAGGTAGCCCGCATCCTCATG 0.557 AQP5 362 broad.mit.edu 37 12 50355944 50355944 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr12:50355944G>A uc001rvo.2 + 0 666 c.144G>A c.(142-144)gcG>gcA p.A48A NM_001651 NP_001642 P55064 AQP5_HUMAN Homo sapiens aquaporin 5 (AQP5), mRNA. 48 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 TCGCGCTGGCGTTTGGCCTGG 0.667 HSD17B6 8630 broad.mit.edu 37 12 57167873 57167873 + Silent SNP G G A rs147344470 byFrequency TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr12:57167873G>A uc001smg.1 + 1 347 c.237G>A c.(235-237)acG>acA p.T79T NM_003725 NP_003716 O14756 H17B6_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA. 79 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) GGCTGGAGACGGTGACCCTGG 0.567 NOS1 4842 broad.mit.edu 37 12 117669899 117669899 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr12:117669899C>T uc001twn.2 - 22 4086 c.3375G>A c.(3373-3375)ccG>ccA p.P1125P NOS1_uc021ren.1_Silent_p.P755P|NOS1_uc021reo.1_Silent_p.P755P|NOS1_uc001twm.2_Silent_p.P1091P NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1091 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.P1091P(1)|p.E1124K(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGGTGCAGGGCGGGAGGCGGA 0.602 TSC22D1 8848 broad.mit.edu 37 13 45148388 45148388 + Missense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr13:45148388G>T uc001uzn.4 - 0 2314 c.1823C>A c.(1822-1824)tCt>tAt p.S608Y TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank NM_183422 NP_904358 Q15714 T22D1_HUMAN Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA. 608 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) AGCCGCCTGAGAATATGGTAG 0.522 TUBGCP3 10426 broad.mit.edu 37 13 113176787 113176787 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr13:113176787T>C uc001vse.1 - 13 1779 c.1592A>G c.(1591-1593)cAg>cGg p.Q531R TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.3_Missense_Mutation_p.Q531R NM_006322 NP_006313 Q96CW5 GCP3_HUMAN Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA. 531 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton p.Q531*(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AATCTTCCCCTGAAATGCATT 0.423 CHAMP1 283489 broad.mit.edu 37 13 115090500 115090500 + Missense_Mutation SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr13:115090500C>G uc001vuv.3 + 2 1515 c.1183C>G c.(1183-1185)Cca>Gca p.P395A CHAMP1_uc010tko.2_Missense_Mutation_p.P395A|CHAMP1_uc010ahb.3_Missense_Mutation_p.P395A|CHAMP1_uc021rmx.1_Missense_Mutation_p.P395A NM_032436 NP_115812 Q96JM3 ZN828_HUMAN Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA. 395 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding GTCTGGCCCACCAGAACTCCG 0.557 AK7 122481 broad.mit.edu 37 14 96875256 96875256 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr14:96875256C>T uc001yfn.2 + 3 520 c.476C>T c.(475-477)gCg>gTg p.A159V NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 159 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.W158R(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATGACTTGGGCGCGCTCCAAA 0.473 AHNAK2 113146 broad.mit.edu 37 14 105407228 105407228 + Missense_Mutation SNP G G C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr14:105407228G>C uc010axc.1 - 6 14680 c.14560C>G c.(14560-14562)Cct>Gct p.P4854A AHNAK2_uc021sen.1_Missense_Mutation_p.P251A|AHNAK2_uc021seo.1_5'UTR|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 4854 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGAGAAACAGGAATCATGGAA 0.483 NDN 4692 broad.mit.edu 37 15 23932352 23932352 + Missense_Mutation SNP T T A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:23932352T>A uc001ywk.3 - 0 99 c.13A>T c.(13-15)Agt>Tgt p.S5C NM_002487 NP_002478 Q99608 NECD_HUMAN Homo sapiens necdin homolog (mouse) (NDN), mRNA. 5 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.S5I(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGATCCTTACTTTGTTCTGAC 0.642 Prader-Willi syndrome CHRFAM7A 89832 broad.mit.edu 37 15 30659651 30659651 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:30659651G>A uc001zdt.1 - 8 1256 c.690C>T c.(688-690)caC>caT p.H230H DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H NM_139320 NP_683709 Q494W8 CRFM7_HUMAN Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA. 230 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity large_intestine(3)|lung(1)|skin(2) 6 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CGTCGGGGTCGTGGTGGTGGT 0.602 MNS1 55329 broad.mit.edu 37 15 56735891 56735893 + In_Frame_Del DEL TCT TCT - TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:56735891_56735893delTCT uc002adr.2 - 5 1011_1013 c.846_848delAGA c.(844-849)gaagat>gat p.E282del MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA. 282 Glu-rich. meiosis breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 20 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TGCCATCCGATCTTCTTCTCTTT 0.369 ARID3B 10620 broad.mit.edu 37 15 74884098 74884098 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr15:74884098C>T uc002aye.3 + 6 1564 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C ARID3B_uc002ayd.3_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA. 455 REKLES. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 GGCCTTCCAGCGCAACTTTTT 0.647 SRRM2 23524 broad.mit.edu 37 16 2812074 2812074 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr16:2812074G>A uc002crk.3 + 10 2094 c.1545G>A c.(1543-1545)agG>agA p.R515R SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 515 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGTGGCGTAGGTCCAGGTCTG 0.617 ACSM2A 123876 broad.mit.edu 37 16 20476938 20476938 + Missense_Mutation SNP G G A rs141326932 TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr16:20476938G>A uc010bwe.3 + 3 516 c.277G>A c.(277-279)Gca>Aca p.A93T ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A93T|ACSM2A_uc010vay.2_Missense_Mutation_p.A14T NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 93 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CAGCCAGCAGGCAGCCAACGT 0.612 ACSM2B 348158 broad.mit.edu 37 16 20570670 20570670 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr16:20570670C>T uc002dhj.4 - 3 487 c.277G>A c.(277-279)Gca>Aca p.A93T ACSM2B_uc002dhk.4_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 93 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ATGTTGGCTGCCTGCTGGCTG 0.602 ALOX12B 242 broad.mit.edu 37 17 7989533 7989533 + Silent SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:7989533G>T uc002gjy.1 - 1 414 c.153C>A c.(151-153)ggC>ggA p.G51G MIR4314_uc021tpn.1_5'Flank NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 51 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 CGGTGTACTGGCCCACCTAGG 0.647 Multiple Myeloma(8;0.094) SMCR7 125170 broad.mit.edu 37 17 18167942 18167942 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:18167942G>A uc010vxq.2 + 3 1288 c.1262G>A c.(1261-1263)gGc>gAc p.G421D SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.G410D NM_148886 NP_631901 Q96C03 SMCR7_HUMAN Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 410 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTGCTCATCGGCAGCCTGGAG 0.627 GPR179 440435 broad.mit.edu 37 17 36499092 36499092 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:36499092G>A uc002hpz.3 - 0 602 c.581C>T c.(580-582)aCc>aTc p.T194I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 194 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CAGGGCAGGGGTGTCCAGGTC 0.642 KRTAP4-7 100132476 broad.mit.edu 37 17 39240819 39240819 + Missense_Mutation SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:39240819C>G uc010wfn.2 + 0 361 c.361C>G c.(361-363)Ctg>Gtg p.L121V NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 ctgctgctgcCTGCGTCCAGT 0.657 KRTAP4-7 100132476 broad.mit.edu 37 17 39240900 39240900 + Missense_Mutation SNP T T G rs61746948 TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:39240900T>G uc010wfn.2 + 0 442 c.442T>G c.(442-444)Ttg>Gtg p.L148V NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TCCCCGCCCCTTGTGCTGTGC 0.627 PPM1D 8493 broad.mit.edu 37 17 58740521 58740521 + Nonsense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:58740521G>T uc002iyt.2 + 5 1658 c.1426G>T c.(1426-1428)Gaa>Taa p.E476* PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 476 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) ACCACTTGAAGAAAATTGCGC 0.403 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) C17orf77 146723 broad.mit.edu 37 17 72588368 72588368 + Silent SNP T T G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr17:72588368T>G uc002jla.1 + 2 545 c.183T>G c.(181-183)ggT>ggG p.G61G CD300LD_uc002jkz.2_5'UTR|C17orf77_uc021ucq.1_Silent_p.G61G NM_152460 NP_689673 Q96MU5 CQ077_HUMAN Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA. 61 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 CTCTCCTTGGTGATCACAGGT 0.537 EMILIN2 84034 broad.mit.edu 37 18 2892201 2892201 + Silent SNP G G A rs3810066 by1000genomes TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:2892201G>A uc002kln.3 + 3 2235 c.2076G>A c.(2074-2076)acG>acA p.T692T NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 692 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) AGGAATGCACGCAGGGGGTCC 0.572 DCC 1630 broad.mit.edu 37 18 50592528 50592528 + Missense_Mutation SNP C C A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:50592528C>A uc002lfe.2 + 6 1869 c.1253C>A c.(1252-1254)cCt>cAt p.P418H DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.2_Missense_Mutation_p.P73H NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 418 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.P418T(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTCATTGTCCCTAAGCCTGGT 0.438 ZNF532 55205 broad.mit.edu 37 18 56587377 56587377 + Nonsense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:56587377G>T uc010xeg.2 + 2 2055 c.1858G>T c.(1858-1860)Gag>Tag p.E620* ZNF532_uc002lhp.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lho.3_Nonsense_Mutation_p.E620*|ZNF532_uc002lhr.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.3_Nonsense_Mutation_p.E618* NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN Homo sapiens zinc finger protein 532 (ZNF532), mRNA. 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CAAGTGCTTGGAGTGTGGGGA 0.537 MC4R 4160 broad.mit.edu 37 18 58039346 58039346 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr18:58039346C>T uc002lie.1 - 0 656 c.237G>A c.(235-237)atG>atA p.M79I NM_005912 NP_005903 P32245 MC4R_HUMAN Homo sapiens melanocortin 4 receptor (MC4R), mRNA. 79 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) TGAAAAAGTACATGGGTGAAT 0.438 ARID3A 1820 broad.mit.edu 37 19 964263 964263 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:964263G>A uc002lql.3 + 4 1072 c.782G>A c.(781-783)cGc>cAc p.R261H NM_005224 NP_005215 Q99856 ARI3A_HUMAN Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA. 261 ARID. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTGAACCGCATCCCCATC 0.637 FUT6 2528 broad.mit.edu 37 19 5832254 5832254 + Missense_Mutation SNP G G C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:5832254G>C uc002mdf.1 - 3 851 c.325C>G c.(325-327)Cac>Gac p.H109D FUT6_uc021unl.1_Missense_Mutation_p.H109D|FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc021unm.1_Missense_Mutation_p.H109D NM_001040701 NP_001035791 P51993 FUT6_HUMAN Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA. 109 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 ACCTCTCGGTGGTGCACGATG 0.642 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:9204125G>A uc010xkj.2 + 0 205 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(4) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557 CYP2B6 1555 broad.mit.edu 37 19 41515999 41515999 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:41515999G>A uc002opr.1 + 5 930 c.923G>A c.(922-924)cGc>cAc p.R308H CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 308 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACCACTCTCCGCTACGGCTTC 0.552 FOXA3 3171 broad.mit.edu 37 19 46375889 46375889 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr19:46375889G>A uc002pdr.3 + 1 823 c.626G>A c.(625-627)cGc>cAc p.R209H NM_004497 NP_004488 P55318 FOXA3_HUMAN Homo sapiens forkhead box A3 (FOXA3), mRNA. 209 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TACCTGCGCCGCCAGAAACGC 0.627 EHD3 30845 broad.mit.edu 37 2 31483729 31483729 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:31483729C>T uc002rnu.3 + 3 1464 c.856C>T c.(856-858)Ccc>Tcc p.P286S EHD3_uc010ymt.2_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN Homo sapiens EH-domain containing 3 (EHD3), mRNA. 286 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.P286P(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CCAGAGTCTGCCCCGAAATGC 0.622 BIRC6 57448 broad.mit.edu 37 2 32727897 32727897 + Missense_Mutation SNP A A T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:32727897A>T uc010ezu.3 + 47 9377 c.9243A>T c.(9241-9243)ttA>ttT p.L3081F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 3081 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTGAGCCATTATTGTGGTTCA 0.313 SLC4A5 57835 broad.mit.edu 37 2 74477637 74477637 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:74477637C>T uc002sko.1 - 11 1488 c.1486G>A c.(1486-1488)Ggt>Agt p.G496S SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 496 Gly-rich. apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CACAGGCCACCGAAGAACCTG 0.527 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IL18RAP 8807 broad.mit.edu 37 2 103040791 103040791 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:103040791C>T uc002tbx.3 + 4 980 c.496C>T c.(496-498)Ctt>Ttt p.L166F IL18RAP_uc010fiz.3_Missense_Mutation_p.L24F NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 166 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 gcaagacctacttcttgggag 0.468 TMEM87B 84910 broad.mit.edu 37 2 112865416 112865416 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:112865416G>A uc002thm.2 + 17 1946 c.1577_splice c.e17+1 p.V526_splice NM_032824 NP_116213 Q96K49 TM87B_HUMAN Homo sapiens transmembrane protein 87B (TMEM87B), mRNA. 526 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 ATTCACAGATGTGTAAGTTAT 0.343 GCG 2641 broad.mit.edu 37 2 163005628 163005628 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:163005628G>A uc002ucc.3 - 1 317 c.61C>T c.(61-63)Cgt>Tgt p.R21C NM_002054 NP_002045 P01275 GLUC_HUMAN Homo sapiens glucagon (GCG), mRNA. 21 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) TGAAGGGAACGTTGCCAGCTG 0.413 MYO3B 140469 broad.mit.edu 37 2 171243715 171243715 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:171243715T>C uc002ufy.3 + 13 1617 c.1474T>C c.(1474-1476)Ttt>Ctt p.F492L MYO3B_uc002ufv.3_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F492L|MYO3B_uc002ufz.3_Missense_Mutation_p.F492L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 492 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CTCGAGCCGTTTTGGAAAATA 0.433 ITGA4 3676 broad.mit.edu 37 2 182358131 182358131 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:182358131G>A uc002unu.3 + 10 1996 c.1233G>A c.(1231-1233)tcG>tcA p.S411S NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 411 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATGGGATCTCGTCAACCTTCT 0.368 MYO1B 4430 broad.mit.edu 37 2 192141643 192141643 + Missense_Mutation SNP A A T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:192141643A>T uc010fsg.2 + 1 277 c.22A>T c.(22-24)Acc>Tcc p.T8S MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S NM_001130158 NP_001155291 O43795 MYO1B_HUMAN Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA. 8 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GGAGGTGAAAACCTCACTTCT 0.433 SLC19A3 80704 broad.mit.edu 37 2 228560683 228560683 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:228560683T>C uc002vpi.3 - 3 1183 c.1094A>G c.(1093-1095)tAc>tGc p.Y365C SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA. 365 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.Y365H(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ATTGGCTGTGTAATGCATGAG 0.443 CHRND 1144 broad.mit.edu 37 2 233394760 233394760 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:233394760G>A uc002vsw.3 + 6 735 c.731G>A c.(730-732)cGc>cAc p.R244H CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R229H|CHRND_uc010zmh.2_Intron NM_000751 NP_000742 Q07001 ACHD_HUMAN Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA. 244 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.R243H(2) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) ATCATCCGCCGCAAGCCCCTC 0.607 SNED1 25992 broad.mit.edu 37 2 242004746 242004746 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr2:242004746G>A uc002wah.1 + 20 2745 c.2745G>A c.(2743-2745)gaG>gaA p.E915E SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.3_Silent_p.E2E NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 915 Fibronectin type-III 1. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TCAAGATGGAGAGAGTGGAGG 0.607 ANGPT4 51378 broad.mit.edu 37 20 869018 869018 + Missense_Mutation SNP A A G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr20:869018A>G uc002wei.3 - 2 633 c.530T>C c.(529-531)cTg>cCg p.L177P ANGPT4_uc010zpn.2_Missense_Mutation_p.L171P NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 177 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CTGGTTCTCCAGCTTGTTGGT 0.597 NCOR1P1 149934 broad.mit.edu 37 20 26084125 26084125 + Silent SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr20:26084125T>C uc002wvj.4 - 1 346 c.291A>G c.(289-291)caA>caG p.Q97Q Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA. AGACTTTTACTTGTTTCTTTT 0.299 DHX35 60625 broad.mit.edu 37 20 37632428 37632428 + Missense_Mutation SNP C C A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr20:37632428C>A uc002xjh.3 + 10 919 c.889C>A c.(889-891)Cag>Aag p.Q297K DHX35_uc010zwa.2_Missense_Mutation_p.Q142K|DHX35_uc010zwc.2_Missense_Mutation_p.Q266K|DHX35_uc010zwb.2_Missense_Mutation_p.Q142K NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA. 297 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GCTCATCGAGCAGGCTCGAGC 0.453 BACH1 571 broad.mit.edu 37 21 30693606 30693606 + Missense_Mutation SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr21:30693606C>G uc002ynk.3 + 1 248 c.5C>G c.(4-6)tCt>tGt p.S2C BACH1_uc002ynj.3_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_Non-coding_Transcript NM_206866 NP_996749 O14867 BACH1_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA. 2 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TGCAGAATGTCTCTGAGTGAG 0.403 KRTAP12-3 386683 broad.mit.edu 37 21 46078019 46078019 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr21:46078019G>A uc002zft.3 + 0 171 c.123G>A c.(121-123)acG>acA p.T41T TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA. 41 14 X 5 AA approximate repeats. intermediate filament p.C40*(1) central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TGAGCTGCACGCGCATTGTGT 0.637 PARVG 64098 broad.mit.edu 37 22 44581720 44581720 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr22:44581720C>T uc011aqe.2 + 3 536 c.112C>T c.(112-114)Cgg>Tgg p.R38W PARVG_uc010gzo.3_Missense_Mutation_p.R105W|PARVG_uc021wra.1_Missense_Mutation_p.R38W|PARVG_uc003bep.3_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.R38W|PARVG_uc011aqf.2_Missense_Mutation_p.R38W|PARVG_uc021wrc.1_Non-coding_Transcript NM_001137605 NP_071424 Q9HBI0 PARVG_HUMAN Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA. 38 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) ACCCACTTCCCGGAAGGACCC 0.607 SLC4A7 9497 broad.mit.edu 37 3 27478926 27478926 + Missense_Mutation SNP T T G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr3:27478926T>G uc011aww.2 - 3 602 c.381A>C c.(379-381)gaA>gaC p.E127D SLC4A7_uc011awx.2_Missense_Mutation_p.E127D|SLC4A7_uc021wun.1_Missense_Mutation_p.E127D|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.E123D|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.E123D|SLC4A7_uc011axb.2_Missense_Mutation_p.E127D|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.E123D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdv.3_Missense_Mutation_p.E118D|SLC4A7_uc003cdw.3_Missense_Mutation_p.E118D NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA. 118 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TGTAACACAGTTCATCCATTT 0.373 COL6A5 256076 broad.mit.edu 37 3 130159541 130159541 + Missense_Mutation SNP G G A rs146634521 by1000genomes TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr3:130159541G>A uc010htj.1 + 34 6853 c.6359G>A c.(6358-6360)cGt>cAt p.R2120H COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 2120 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GGCTCTACACGTAAGGATGAC 0.408 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr3:178917478G>A uc003fjk.3 + 3 510 c.353_splice c.e3-1 p.G118_splice NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) GABRA4 2557 broad.mit.edu 37 4 46930475 46930475 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:46930475C>T uc003gxg.3 - 8 2415 c.1432G>A c.(1432-1434)Gtg>Atg p.V478M GABRA4_uc021xnz.1_Missense_Mutation_p.V459M|GABRA4_uc021xoa.1_Missense_Mutation_p.V408M NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 478 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATCCAAACACGTGACGAGTA 0.488 CABS1 85438 broad.mit.edu 37 4 71201240 71201240 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:71201240G>A uc003hff.3 + 0 570 c.484G>A c.(484-486)Gtc>Atc p.V162I CABS1_uc021xoz.1_Missense_Mutation_p.V162I NM_033122 NP_149113 Q96KC9 CABS1_HUMAN Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA. 162 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACCTCTGAAGTCTCTGGCAC 0.413 SEC24B 10427 broad.mit.edu 37 4 110384778 110384778 + Silent SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:110384778G>A uc003hzk.3 + 1 910 c.855G>A c.(853-855)gcG>gcA p.A285A SEC24B_uc003hzl.3_Silent_p.A285A|SEC24B_uc011cfp.2_Silent_p.A316A|SEC24B_uc011cfq.2_Silent_p.A285A|SEC24B_uc011cfr.2_Silent_p.A285A NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 285 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGGCTGTAGCGAACAACAACC 0.413 NAF1 92345 broad.mit.edu 37 4 164050096 164050096 + Missense_Mutation SNP G G C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:164050096G>C uc003iqj.3 - 7 1632 c.1438C>G c.(1438-1440)Cca>Gca p.P480A NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA. 480 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) GAAgagggtggaggaggcagt 0.458 PALLD 23022 broad.mit.edu 37 4 169433085 169433085 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:169433085G>A uc011cjx.2 + 1 641 c.430G>A c.(430-432)Ggt>Agt p.G144S PALLD_uc003iru.3_Missense_Mutation_p.G144S NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 144 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding p.G144R(2) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TGAAAAGCGTGGTGCAAAAAC 0.512 Pancreatic Cancer, Familial Clustering of LRP2BP 55805 broad.mit.edu 37 4 186299262 186299262 + Missense_Mutation SNP A A C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr4:186299262A>C uc003ixj.2 - 0 891 c.79T>G c.(79-81)Ttt>Gtt p.F27V LRP2BP_uc003ixk.2_5'UTR|LRP2BP_uc021xvi.1_Non-coding_Transcript NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN Homo sapiens LRP2 binding protein (LRP2BP), mRNA. 27 cytoplasm protein binding p.F27F(1) breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) CACTGGAAAAATTTTTGGTTT 0.378 MARVELD2 153562 broad.mit.edu 37 5 68737366 68737366 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:68737366C>T uc003jwq.3 + 6 1636 c.1562C>T c.(1561-1563)aCa>aTa p.T521I MARVELD2_uc010ixf.3_Missense_Mutation_p.T509I|MARVELD2_uc003jws.1_Non-coding_Transcript NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 521 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CAGGATCCTACATTTCTGGAA 0.318 FBN2 2201 broad.mit.edu 37 5 127728993 127728993 + Missense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:127728993G>T uc003kuu.3 - 9 1739 c.1300C>A c.(1300-1302)Cct>Act p.P434T FBN2_uc003kuv.2_Missense_Mutation_p.P401T NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 434 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTGCCTCCAGGTCTGGAACCA 0.532 PDLIM4 8572 broad.mit.edu 37 5 131607724 131607724 + Silent SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:131607724C>G uc003kwo.3 + 5 1196 c.1119C>G c.(1117-1119)acC>acG p.T373T BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.T265T|PDLIM4_uc003kwp.3_Missense_Mutation_p.P226R NM_003687 NP_003678 P50479 PDLI4_HUMAN Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA. 265 protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAGGGGCACCATCGTCAAGG 0.617 PCDHGC5 9708 broad.mit.edu 37 5 140774290 140774290 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr5:140774290C>T uc003lkd.2 + 0 2808 c.1910C>T c.(1909-1911)gCg>gTg p.A637V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.A637V|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 639 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A637E(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGAGATGCGCTCAAGCAG 0.682 DSP 1832 broad.mit.edu 37 6 7580369 7580369 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:7580369G>A uc003mxp.1 + 22 4225 c.3946G>A c.(3946-3948)Gct>Act p.A1316T DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.A1316T NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1316 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCTGGAGGAGGCTGCCAAGAC 0.512 COL11A2 1302 broad.mit.edu 37 6 33137189 33137189 + Missense_Mutation SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:33137189T>C uc003ocx.1 - 50 3997 c.3769A>G c.(3769-3771)Aca>Gca p.T1257A COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1257 Triple-helical region. T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCATCGCCTGTGGGGCCTTTA 0.627 KCNK17 89822 broad.mit.edu 37 6 39272395 39272395 + Missense_Mutation SNP C C T rs142227833 TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:39272395C>T uc003ooo.3 - 2 530 c.389G>A c.(388-390)cGc>cAc p.R130H KCNK17_uc003oop.3_Missense_Mutation_p.R130H NM_031460 NP_113648 Q96T54 KCNKH_HUMAN Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA. 130 integral to membrane potassium channel activity|voltage-gated ion channel activity p.R130L(3) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 GCAGAAGAGGCGGGCAGCCAT 0.612 PTK7 5754 broad.mit.edu 37 6 43109453 43109453 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:43109453C>T uc011dve.1 + 10 1732 c.1690C>T c.(1690-1692)Cat>Tat p.H564Y PTK7_uc003oub.1_Missense_Mutation_p.H556Y|PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 556 Ig-like C2-type 6. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGGGACCCTGCATTTTGCCCG 0.582 TINAG 27283 broad.mit.edu 37 6 54191661 54191661 + Missense_Mutation SNP C C T rs115438249 byFrequency TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:54191661C>T uc003pcj.2 + 3 717 c.571C>T c.(571-573)Cgc>Tgc p.R191C TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 191 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.R191C(2)|p.R191H(1)|p.R191L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTTAAATTTCGCCTTGGCAC 0.373 TINAG 27283 broad.mit.edu 37 6 54254704 54254704 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:54254704C>T uc003pcj.2 + 10 1558 c.1412C>T c.(1411-1413)aCg>aTg p.T471M TINAG_uc010jzt.2_Non-coding_Transcript NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA. 471 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GGCCAACTGACGAGTTCTGAT 0.403 RIMS1 22999 broad.mit.edu 37 6 72993805 72993805 + Missense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:72993805G>T uc003pga.3 + 23 3615 c.3538G>T c.(3538-3540)Gcc>Tcc p.A1180S RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Missense_Mutation_p.A561S|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Missense_Mutation_p.A481S|RIMS1_uc011dyd.2_Missense_Mutation_p.A547S|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Missense_Mutation_p.A37S|RIMS1_uc011dyf.2_Missense_Mutation_p.A37S NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 1180 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GAAAGGCACTGCCTCTGATGC 0.398 MAP3K7 6885 broad.mit.edu 37 6 91226312 91226312 + Nonsense_Mutation SNP C C A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:91226312C>A uc003pnz.1 - 16 2034 c.1729G>T c.(1729-1731)Gaa>Taa p.E577* MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 577 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTTTTGTTTTCATCTAAAAGC 0.408 LAMA4 3910 broad.mit.edu 37 6 112496666 112496666 + Missense_Mutation SNP C C A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:112496666C>A uc003pvu.2 - 10 1515 c.1206G>T c.(1204-1206)atG>atT p.M402I LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 402 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CATAATAGAGCATCTTGTTGT 0.483 DSE 29940 broad.mit.edu 37 6 116757126 116757126 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr6:116757126G>A uc011ebg.2 + 5 1651 c.1552G>A c.(1552-1554)Gtg>Atg p.V518M DSE_uc003pws.3_Missense_Mutation_p.V499M|DSE_uc003pwt.3_Missense_Mutation_p.V499M|DSE_uc003pwu.3_Missense_Mutation_p.V166M NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 499 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTCTCCCTGGGTGGGTCAGGT 0.483 COL28A1 340267 broad.mit.edu 37 7 7412801 7412801 + Silent SNP T T C TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:7412801T>C uc003src.1 - 31 2853 c.2736A>G c.(2734-2736)aaA>aaG p.K912K COL28A1_uc011jxe.1_Silent_p.K595K NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 912 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCAGTTTCTCTTTATCACGAG 0.443 C7orf57 136288 broad.mit.edu 37 7 48081010 48081010 + Missense_Mutation SNP C C G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:48081010C>G uc003toh.4 + 2 347 c.135C>G c.(133-135)agC>agG p.S45R C7orf57_uc003toi.4_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA. 45 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 CAGGTCTCAGCAATTTGGGAG 0.537 EGFR 1956 broad.mit.edu 37 7 55221716 55221716 + Missense_Mutation SNP T T A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:55221716T>A uc003tqk.3 + 6 1006 c.760T>A c.(760-762)Ttc>Atc p.F254I EGFR_uc003tqh.3_Missense_Mutation_p.F254I|EGFR_uc003tqi.3_Missense_Mutation_p.F254I|EGFR_uc003tqj.3_Missense_Mutation_p.F254I|EGFR_uc022adm.1_Missense_Mutation_p.F254I|EGFR_uc010kzg.2_Missense_Mutation_p.F209I|EGFR_uc022adn.1_Missense_Mutation_p.F209I|EGFR_uc011kco.2_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 254 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.F254F(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGCCGCAAATTCCGAGACGA 0.587 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) WBSCR17 64409 broad.mit.edu 37 7 71135089 71135089 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:71135089G>A uc003tvy.3 + 7 1399 c.1399G>A c.(1399-1401)Ggg>Agg p.G467R WBSCR17_uc003tvz.3_Missense_Mutation_p.G166R NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 467 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CGTTGCTTACGGGGAGGTAAT 0.413 SAMD9 54809 broad.mit.edu 37 7 92733048 92733048 + Missense_Mutation SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:92733048C>T uc003umf.3 - 2 2633 c.2363G>A c.(2362-2364)cGt>cAt p.R788H SAMD9_uc003umg.3_Missense_Mutation_p.R788H|SAMD9_uc022ahg.1_Missense_Mutation_p.R788H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 788 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTATTCCTGACGGTTCATTGC 0.378 TRIM56 81844 broad.mit.edu 37 7 100730794 100730794 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:100730794C>T uc003uxq.3 + 2 432 c.201C>T c.(199-201)ccC>ccT p.P67P TRIM56_uc003uxr.3_Silent_p.P67P|TRIM56_uc022aiw.1_Silent_p.P67P NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 67 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTGCCGCCCGAGGGTGTGG 0.677 RELN 5649 broad.mit.edu 37 7 103159906 103159906 + Missense_Mutation SNP G G T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:103159906G>T uc022ajr.1 - 48 7886 c.7726C>A c.(7726-7728)Caa>Aaa p.Q2576K RELN_uc022ajq.1_Missense_Mutation_p.Q2576K|RELN_uc010liz.3_Missense_Mutation_p.Q2576K NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2576 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.I2575I(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGTAAAATTGGATGAACTCA 0.378 TAS2R41 259287 broad.mit.edu 37 7 143175728 143175728 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr7:143175728G>A uc003wdc.1 + 0 763 c.763G>A c.(763-765)Gca>Aca p.A255T LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 255 sensory perception of taste integral to membrane G-protein coupled receptor activity p.A254A(1) endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CATTGATGCCGCAAAATTTAT 0.493 DLGAP2 9228 broad.mit.edu 37 8 1649565 1649565 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr8:1649565G>A uc003wpl.3 + 11 3018 c.2921G>A c.(2920-2922)cGg>cAg p.R974Q DLGAP2_uc003wpm.3_Missense_Mutation_p.R960Q NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 1053 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCCCAGACCCGGCTCTGAGGG 0.706 ADAM28 10863 broad.mit.edu 37 8 24199150 24199150 + Silent SNP G G A rs145453785 byFrequency TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr8:24199150G>A uc003xdy.3 + 15 1793 c.1710G>A c.(1708-1710)tcG>tcA p.S570S ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S257S NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 570 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.S570S(2)|p.G569W(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGGTGGGTCGGATAATTTGC 0.413 ARHGAP39 80728 broad.mit.edu 37 8 145771184 145771184 + Missense_Mutation SNP A A G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr8:145771184A>G uc003zds.1 - 6 2525 c.1970T>C c.(1969-1971)cTc>cCc p.L657P ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zdt.1_Missense_Mutation_p.L657P NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 657 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 ACAGGCAGCGAGGTCCTCAGA 0.672 FREM1 158326 broad.mit.edu 37 9 14784500 14784500 + Missense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr9:14784500G>A uc003zlm.3 - 24 5126 c.4310C>T c.(4309-4311)cCg>cTg p.P1437L FREM1_uc010mic.3_Intron NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1437 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCCATATCGCGGAGGGGAGGT 0.488 FOXD4L5 653427 broad.mit.edu 37 9 70177746 70177747 + In_Frame_Ins INS - - GCC TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chr9:70177746_70177747insGCC uc010moc.3 - 0 1069_1070 c.237_238insGGC c.(235-240)insGGC p.79_80insG NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA. 79 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.G79G(3) endometrium(5)|lung(2) 7 GGGTCACTCGGGCCGCCGCCGC 0.688 PHF8 23133 broad.mit.edu 37 X 53970579 53970579 + Silent SNP C C T TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chrX:53970579C>T uc004dsu.3 - 19 2991 c.2745G>A c.(2743-2745)aaG>aaA p.K915K PHF8_uc004dsv.3_Silent_p.K745K|PHF8_uc004dst.3_Silent_p.K879K|PHF8_uc004dsw.3_Silent_p.K778K|PHF8_uc004dsx.3_Silent_p.K643K|PHF8_uc004dsy.3_Silent_p.K862K NM_001184896 NP_055922 Q9UPP1 PHF8_HUMAN Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA. 915 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GCTGGGCCAGCTTTGCAGCTG 0.592 ITIH6 347365 broad.mit.edu 37 X 54784130 54784130 + Nonsense_Mutation SNP G G A TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chrX:54784130G>A uc004dtj.2 - 7 2407 c.2377C>T c.(2377-2379)Caa>Taa p.Q793* NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 793 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GCCCCAAGTTGGGGGTGCGAT 0.552 PCDH11Y 83259 broad.mit.edu 37 Y 4966471 4966471 + Silent SNP A A G TCGA-16-1048-01B-01D-1353-08 TCGA-16-1048-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52671a3d-7840-402c-a49c-8b9a6fb2674d ece35cba-afac-4d82-8f6d-dd626efa0acf g.chrY:4966471A>G uc004fqo.3 + 1 1586 c.852A>G c.(850-852)acA>acG p.T284T PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 284 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTAAGGAGACAGAGATTGAAG 0.428