Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF578 147660 broad.mit.edu 37 19 53014631 53014631 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:53014631C>T ENST00000421239.2 + 6 1241 c.997C>T c.(997-999)Cat>Tat p.H333Y CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CCTTACATGCCATCATAGGTG 0.428000 42 93 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83357100 83357100 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chrX:83357100C>T ENST00000262752.2 - 18 1728 c.1721G>A c.(1720-1722)gGa>gAa p.G574E RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G574E|RPS6KA6_ENST00000495332.1_5'UTR NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 574 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TCCATTTTCTCCTCGAAGTTG 0.368000 5 16 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686584 108686584 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:108686584G>A ENST00000397688.2 - 3 519 c.150C>T c.(148-150)ttC>ttT p.F50F CMKLR1_ENST00000552995.1_Silent_p.F50F|CMKLR1_ENST00000550402.1_Silent_p.F52F|CMKLR1_ENST00000312143.7_Silent_p.F52F|CMKLR1_ENST00000412676.1_Silent_p.F52F NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 52 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GAATCCCGAGGAAGCAGACGA 0.502000 58 69 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97278218 97278218 + Missense_Mutation SNP A A T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:97278218A>T ENST00000599854.1 - 8 1201 c.734T>A c.(733-735)gTg>gAg p.V245E KANSL3_ENST00000441706.2_Missense_Mutation_p.V245E|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.V126E|KANSL3_ENST00000431828.1_Missense_Mutation_p.V332E NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 332 TTTGCTTCTCACTGCCCCAAT 0.507000 104 122 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194063279 194063279 + Silent SNP C C T rs141207947 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:194063279C>T ENST00000323830.3 - 2 242 c.153G>A c.(151-153)acG>acA p.T51T CPN2_ENST00000429275.1_Silent_p.T51T NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 51 protein stabilization extracellular region enzyme regulator activity p.T51T(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGATGTTTTTCGTATATGGCG 0.537000 54 99 0 0 1 0 0 PPAP2C 8612 broad.mit.edu 37 19 282216 282216 + Missense_Mutation SNP T T C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:282216T>C ENST00000269812.3 - 5 684 c.635A>G c.(634-636)tAc>tGc p.Y212C PPAP2C_ENST00000327790.3_Missense_Mutation_p.Y233C|PPAP2C_ENST00000434325.2_Missense_Mutation_p.Y156C NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 212 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CACGCGGGTGTAGCCCACGTA 0.592000 32 30 0 0 1 0 0 GNGT1 2792 broad.mit.edu 37 7 93540176 93540176 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:93540176C>T ENST00000248572.5 + 3 319 c.171C>T c.(169-171)atC>atT p.I57I GNGT1_ENST00000429473.1_Silent_p.I57I|GNGT1_ENST00000455502.1_3'UTR NM_021955.3 NP_068774.1 P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 57 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TAAAGGGCATCCCAGAGGACA 0.388000 31 86 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340310 55340310 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:55340310C>T ENST00000314634.3 + 1 707 c.707C>T c.(706-708)tCc>tTc p.S236F NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) AAAGCACTTTCCACATGTGTC 0.408000 38 56 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23703314 23703314 + Nonsense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr16:23703314C>T ENST00000256797.4 - 19 2658 c.2490G>A c.(2488-2490)tgG>tgA p.W830* ERN2_ENST00000457008.2_Nonsense_Mutation_p.W730* NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 782 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGGCTCTGCTCCAAAAGAAGG 0.587000 206 272 0 0 1 0 0 TP73-AS1 57212 broad.mit.edu 37 1 3659657 3659657 + RNA SNP G G A rs2298222 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:3659657G>A ENST00000452079.1 - 0 1813 TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA NR_033711.1 AGAGGCCGCCGGGAACAGGCA 0.577000 4 11 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53185114 53185114 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:53185114G>A ENST00000417996.2 - 7 1485 c.1411C>T c.(1411-1413)Cta>Tta p.L471L KRT3_ENST00000309505.3_Silent_p.L471L NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 471 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GCCTGCTGTAGAGCAGCCTGC 0.607000 55 31 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787063 121787063 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr5:121787063G>A ENST00000261367.7 + 12 4090 c.2662G>A c.(2662-2664)Ggc>Agc p.G888S CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G841S|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G399S|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G443S|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G475S|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G781S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G888S|CTC-210G5.1_ENST00000506053.1_RNA Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 841 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAAAGATAAGGGCAGGACTCT 0.478000 46 97 0 0 1 0 0 IGLV3-12 28802 broad.mit.edu 37 22 23114985 23114985 + RNA SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:23114985G>A ENST00000390313.2 + 0 266 TCCAACCCAGGGAACACCGCC 0.572000 4 54 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51264790 51264790 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:51264790C>T ENST00000266037.9 + 16 1477 c.1454C>T c.(1453-1455)cCt>cTt p.P485L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 485 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGTAATAGTCCTCGCTGGGGA 0.473000 68 98 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891242 2891242 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr18:2891242G>A ENST00000254528.3 + 4 1276 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 373 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) AGGGGAGAAGGAAACAAGCCT 0.502000 38 112 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341061 121341061 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:121341061G>A ENST00000338040.4 + 3 1199 c.785G>A c.(784-786)gGc>gAc p.G262D NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 262 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GAAGGAGAGGGCGCTCCCAAA 0.488000 30 33 0 0 1 0 0 RFX5 5993 broad.mit.edu 37 1 151316245 151316245 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:151316245G>A ENST00000290524.4 - 9 847 c.669C>T c.(667-669)atC>atT p.I223I RFX5_ENST00000452513.2_Silent_p.I183I|RFX5_ENST00000452671.2_Silent_p.I223I|RFX5_ENST00000368870.2_Silent_p.I223I NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 223 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CGACCTCAACGATGGAACTGA 0.592000 50 70 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747764 61747764 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr16:61747764G>A ENST00000577390.1 - 10 2589 c.1635C>T c.(1633-1635)ttC>ttT p.F545F CDH8_ENST00000299345.6_Silent_p.F545F|CDH8_ENST00000577730.1_Silent_p.F545F|CDH8_ENST00000580044.1_5'UTR NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 545 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCTTGATGGTGAAATTCGGAT 0.323000 19 32 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31583499 31583499 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr20:31583499C>T ENST00000356173.3 - 8 552 c.460G>A c.(460-462)Gaa>Aaa p.E154K SUN5_ENST00000375523.3_Missense_Mutation_p.E129K NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 154 spermatogenesis p.E154K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 TCCTGGATTTCCCCACTGTGA 0.507000 102 146 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798367 113798367 + Silent SNP C C T rs137995645 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr13:113798367C>T ENST00000375559.3 + 6 743 c.705C>T c.(703-705)atC>atT p.I235I F10_ENST00000409306.1_Silent_p.I235I|F10_ENST00000375551.3_Silent_p.I235I NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 235 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 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) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACCAGGATCGTGGGAGGCC 0.622000 62 102 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96748622 96748622 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:96748622G>A ENST00000260682.6 + 9 1322 c.1310G>A c.(1309-1311)gGa>gAa p.G437E NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 437 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) ATTTGTGTGGGAGAAGCCCTG 0.453000 134 110 0 0 1 0 0 HIST2H2BA 337875 broad.mit.edu 37 1 120906102 120906102 + RNA SNP G G A rs115198068 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:120906102G>A ENST00000430394.1 + 0 75 NR_027337.1 AGGCTGTTACGAGAGTGCAGA 0.542000 7 134 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26400778 26400778 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:26400778C>T ENST00000335473.7 + 42 6677 c.6427C>T c.(6427-6429)Cct>Tct p.P2143S MYO18B_ENST00000536101.1_Missense_Mutation_p.P2143S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P2144S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2143 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TATGAGGACTCCTTCTCGACA 0.547000 61 110 0 0 1 0 0 EXO5 64789 broad.mit.edu 37 1 40981102 40981102 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:40981102C>T ENST00000372703.1 + 2 1960 c.886C>T c.(886-888)Cac>Tac p.H296Y EXO5_ENST00000296380.4_Missense_Mutation_p.H296Y|EXO5_ENST00000358527.2_Missense_Mutation_p.H296Y exonuclease 5 TGAGTATATCCACCAAGAGAC 0.468000 72 117 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37903859 37903859 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:37903859C>T ENST00000403299.1 - 7 1384 c.1168G>A c.(1168-1170)Gag>Aag p.E390K CARD10_ENST00000251973.5_Missense_Mutation_p.E390K|CARD10_ENST00000406271.3_Missense_Mutation_p.E104K Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 390 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) TTCTCAATCTCCTCCAGTTGG 0.612000 100 137 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630382 74630382 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:74630382G>A ENST00000358632.4 - 9 1718 c.1023C>T c.(1021-1023)ctC>ctT p.L341L CYP11A1_ENST00000268053.6_Silent_p.L499L|CYP11A1_ENST00000419019.2_Silent_p.L341L NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 499 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCATCAGAATGAGGTTGAATG 0.532000 37 75 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98411281 98411281 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:98411281C>T ENST00000339364.5 - 5 959 c.840G>A c.(838-840)gtG>gtA p.V280V PIK3AP1_ENST00000371110.2_Silent_p.V102V|PIK3AP1_ENST00000468783.1_5'UTR NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 280 DBB. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACATGAATTCCACAGGATTCG 0.408000 66 63 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42244228 42244228 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:42244228C>T ENST00000327628.5 + 13 2128 c.1728C>T c.(1726-1728)atC>atT p.I576I TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.I502I|TRAK1_ENST00000396175.1_Silent_p.I518I|TRAK1_ENST00000341421.3_Silent_p.I518I NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 576 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 AGCTCCAGATCGTGAAGCCGC 0.652000 32 45 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157659663 157659663 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:157659663C>T ENST00000368184.3 - 10 2026 c.1735G>A c.(1735-1737)Ggg>Agg p.G579R FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.G579R NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 579 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AGCACCAGCCCCGTGATTCCC 0.567000 35 43 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75937920 75937920 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr4:75937920C>T ENST00000307428.7 + 2 541 c.329C>T c.(328-330)tCg>tTg p.S110L RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 110 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 TCTGGGTTCTCGTCAACAAGC 0.547000 82 125 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 26 0 0 1 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249110787 249110787 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:249110787C>T ENST00000366472.5 - 4 1550 c.321G>A c.(319-321)ggG>ggA p.G107G SH3BP5L_ENST00000411742.2_Silent_p.G75G|SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 107 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CGATGCAGCTCCCCAAGTGGG 0.587000 6 62 0 0 1 0 0 EIF3E 3646 broad.mit.edu 37 8 109252269 109252269 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr8:109252269G>A ENST00000220849.5 - 3 303 c.241C>T c.(241-243)Ctg>Ttg p.L81L EIF3E_ENST00000519030.1_5'UTR NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 81 Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) AGCTGTTTCAGTTGTGCAACC 0.378000 39 95 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183792896 183792896 + Missense_Mutation SNP C C A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:183792896C>A ENST00000360982.2 - 30 3905 c.3147G>T c.(3145-3147)ttG>ttT p.L1049F NCKAP1_ENST00000361354.3_Missense_Mutation_p.L1043F|NCKAP1_ENST00000478449.1_5'UTR NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 1043 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GAATTGTAAACAAAGCTGCAG 0.368000 24 54 3.65163e-15 3.77135e-15 1 1 0 THNSL1 79896 broad.mit.edu 37 10 25313374 25313374 + Missense_Mutation SNP C C A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:25313374C>A ENST00000524413.1 + 3 1569 c.1222C>A c.(1222-1224)Cct>Act p.P408T THNSL1_ENST00000376356.4_Missense_Mutation_p.P408T Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 408 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) TGCATTTTTTCCTGAGAATGG 0.388000 50 106 4.18559e-23 4.44425e-23 1 1 0 MUC16 94025 broad.mit.edu 37 19 9048836 9048836 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:9048836C>T ENST00000397910.4 - 5 32998 c.32795G>A c.(32794-32796)gGa>gAa p.G10932E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10934 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCACCACTCCTGGTACCCC 0.493000 75 112 0 0 1 0 0 PRPF31 26121 broad.mit.edu 37 19 54625942 54625942 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:54625942C>T ENST00000321030.4 + 5 738 c.389C>T c.(388-390)cCc>cTc p.P130L PRPF31_ENST00000391755.1_Missense_Mutation_p.P130L|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130L|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 130 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCCTTGGTCCCCAATGCACTG 0.572000 98 147 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142641808 142641808 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:142641808C>T ENST00000355265.2 - 12 1809 c.1335G>A c.(1333-1335)gcG>gcA p.A445A NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 445 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.A445A(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CATCCCGGATCGCAGTGAATA 0.602000 25 21 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055739 167055739 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:167055739C>T ENST00000375387.4 - 27 5753 c.5413G>A c.(5413-5415)Gat>Aat p.D1805N AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1793N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1804N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1805N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1804 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTGCAAAATCAGAGAGTTTA 0.473000 76 115 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424275 56424275 + Missense_Mutation SNP G G T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:56424275G>T ENST00000588751.1 - 5 932 c.908C>A c.(907-909)cCa>cAa p.P303Q NLRP13_ENST00000342929.3_Missense_Mutation_p.P303Q Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 303 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAGCTTCTCTGGTTGAGACAT 0.423000 42 74 7.63091e-17 7.96819e-17 1 1 0 SCAF1 58506 broad.mit.edu 37 19 50155945 50155945 + Missense_Mutation SNP G G C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:50155945G>C ENST00000360565.3 + 7 2423 c.2299G>C c.(2299-2301)Ggg>Cgg p.G767R NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 767 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCGGGAGAAGGGGTCTCGTCG 0.701000 6 2 0 0 1 0 0 SEPT3 55964 broad.mit.edu 37 22 42388750 42388750 + Missense_Mutation SNP C C A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:42388750C>A ENST00000396425.3 + 8 979 c.848C>A c.(847-849)cCa>cAa p.P283Q SEPT3_ENST00000396426.3_Missense_Mutation_p.P283Q|SEPT3_ENST00000291236.11_Missense_Mutation_p.P219Q|SEPT3_ENST00000406029.1_Missense_Mutation_p.P219Q|SEPT3_ENST00000328414.8_3'UTR NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 283 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 CGAAAAACTCCATGGGGGATC 0.493000 9 14 9.70103e-10 9.91078e-10 1 1 0 PIGS 94005 broad.mit.edu 37 17 26881367 26881367 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr17:26881367G>A ENST00000308360.7 - 12 1914 c.1539C>T c.(1537-1539)ttC>ttT p.F513F PIGS_ENST00000543734.1_Silent_p.F452F|PIGS_ENST00000395346.2_Silent_p.F505F NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 513 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GGTCATCAGGGAAATAAAGGA 0.557000 78 99 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121262884 121262884 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr8:121262884G>A ENST00000297848.3 + 22 2901 c.2631G>A c.(2629-2631)gtG>gtA p.V877V COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V877V|COL14A1_ENST00000247781.3_Silent_p.V782V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 877 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAACGTTTGTGGGAGCTGACA 0.428000 40 101 0 0 1 0 0 GOLGA6L3 100133220 broad.mit.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:83014132C>G ENST00000557886.1 - 6 550 c.451G>C c.(451-453)Gag>Cag p.E151Q p.E151Q(4) endometrium(6)|kidney(5)|prostate(1) 12 GCTGGGGGCTCTGGGGCCAGG 0.522000 3 7 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55028697 55028697 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chrX:55028697C>T ENST00000374987.3 + 3 321 c.255C>T c.(253-255)ttC>ttT p.F85F APEX2_ENST00000471758.1_Intron NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 85 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 TAGCCACCTTCTGTAAGGACA 0.542000 Other BER factors 35 3 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175014 57175014 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:57175014C>T ENST00000537055.2 - 2 1784 c.1553G>A c.(1552-1554)gGa>gAa p.G518E NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGTTTCTCCTCCCTGTGAGAG 0.597000 77 102 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36666254 36666254 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr8:36666254C>T ENST00000399881.3 + 7 712 c.675C>T c.(673-675)tcC>tcT p.S225S NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 225 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGAAGTTTTCCAAACTGCTGT 0.438000 8 5 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138594141 138594141 + Missense_Mutation SNP G G T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr9:138594141G>T ENST00000298480.5 + 1 111 c.37G>T c.(37-39)Gtc>Ttc p.V13F KCNT1_ENST00000371757.2_Missense_Mutation_p.V13F|KCNT1_ENST00000487664.1_Missense_Mutation_p.V13F B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 13 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) cccggggggcgtctgccggga 0.731000 14 22 7.93312e-07 8.06107e-07 1 1 0 NHSL2 340527 broad.mit.edu 37 X 71360146 71360146 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chrX:71360146C>T ENST00000373677.1 + 2 2912 c.1650C>T c.(1648-1650)ctC>ctT p.L550L NHSL2_ENST00000540800.1_Silent_p.L916L|NHSL2_ENST00000535692.1_Silent_p.L550L|NHSL2_ENST00000510661.1_Silent_p.L685L F5H593 F5H593_HUMAN NHS-like 2 916 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CGAGACCACTCCCTCAAGACA 0.542000 29 8 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50171586 50171586 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:50171586C>T ENST00000284509.6 - 24 2909 c.2768G>A c.(2767-2769)gGg>gAg p.G923E ATP8B4_ENST00000559829.1_Missense_Mutation_p.G923E NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 923 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GTCAAAAATCCCCATGGCTAA 0.318000 10 23 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151138714 151138714 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chrX:151138714G>A ENST00000370325.1 - 2 270 c.217C>T c.(217-219)Cgc>Tgc p.R73C GABRE_ENST00000370328.3_Missense_Mutation_p.R73C|GABRE_ENST00000393914.3_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 73 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R73G(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGGATGCGAGAGGCTTCT 0.547000 132 24 0 0 1 0 0 HIST2H2BA 337875 broad.mit.edu 37 1 120906101 120906101 + RNA SNP C C A rs114418656 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:120906101C>A ENST00000430394.1 + 0 74 NR_027337.1 AAGGCTGTTACGAGAGTGCAG 0.542000 7 131 8.12818e-05 8.21512e-05 1 1 0 SPSB4 92369 broad.mit.edu 37 3 140785560 140785560 + Missense_Mutation SNP A A G TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:140785560A>G ENST00000310546.2 + 2 1358 c.614A>G c.(613-615)aAg>aGg p.K205R NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 205 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 CGAGGTCTCAAGGGCAAGAAG 0.622000 36 41 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294202 124294202 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:124294202G>A ENST00000356130.3 - 1 587 c.566C>T c.(565-567)aCc>aTc p.T189I NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ATGGGTGCTGGTGCAGGAGAG 0.488000 20 6 0 0 1 0 0 AKR1C2 1646 broad.mit.edu 37 10 5042629 5042629 + Nonsense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:5042629C>T ENST00000455190.1 - 4 418 c.393G>A c.(391-393)tgG>tgA p.W131* AKR1C2_ENST00000407674.1_Intron|AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000380753.4_Intron NM_001135241.2 NP_001128713.1 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 0 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) GGCTCTTCTTCCATGTTAAAA 0.338000 8 4 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83331954 83331954 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:83331954G>A ENST00000261722.3 - 21 2679 c.2472C>T c.(2470-2472)ccC>ccT p.P824P AP3B2_ENST00000535359.1_Silent_p.P843P|AP3B2_ENST00000535348.1_Silent_p.P792P|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 824 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CAATTGCTGGGGGAGACACAG 0.602000 12 24 0 0 1 0 0 CDPF1 150383 broad.mit.edu 37 22 46641032 46641032 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:46641032G>A ENST00000314567.3 - 4 752 c.329C>T c.(328-330)gCt>gTt p.A110V CDPF1_ENST00000404583.1_Missense_Mutation_p.A105V|CDPF1_ENST00000475605.1_5'UTR|CDPF1_ENST00000404744.1_3'UTR NM_207327.4 NP_997210.3 cysteine-rich, DPF motif domain containing 1 CTTTGATGGAGCTTTCCTTTT 0.557000 44 78 0 0 1 0 0 RPP21 79897 broad.mit.edu 37 6 30314530 30314530 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:30314530C>T ENST00000436442.2 + 5 418 c.415C>T c.(415-417)Cat>Tat p.H139Y RPP21_ENST00000433076.2_Silent_p.S144S|RPP21_ENST00000428040.2_Silent_p.S159S|TRIM39-RPP21_ENST00000513556.1_Silent_p.S397S|RPP21_ENST00000442966.2_Silent_p.S136S ribonuclease P/MRP 21kDa subunit endometrium(2)|ovary(1)|prostate(1) 4 CAGCCCACTCCATTTCAGACC 0.433000 137 47 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25965349 25965349 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:25965349G>A ENST00000435504.4 - 13 4150 c.3857C>T c.(3856-3858)cCc>cTc p.P1286L ASXL2_ENST00000336112.4_Missense_Mutation_p.P1258L|ASXL2_ENST00000404843.1_Missense_Mutation_p.P769L|ASXL2_ENST00000272341.4_Missense_Mutation_p.P769L Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 1286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAAGCTCGGGGCTGCTACG 0.532000 21 17 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261127 158261127 + Missense_Mutation SNP C C T rs145638725 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:158261127C>T ENST00000368170.3 + 2 544 c.265C>T c.(265-267)Cgt>Tgt p.R89C NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 89 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.R89C(1) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTTGTTATTTCGTTTCTACCT 0.398000 46 54 0 0 1 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70855211 70855211 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr14:70855211G>A ENST00000256366.4 - 2 258 c.177C>T c.(175-177)ctC>ctT p.L59L RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CACCCTCCTGGAGCCGCCCAT 0.567000 24 38 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171086346 171086346 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:171086346C>T ENST00000367755.4 + 9 1474 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S FMO3_ENST00000392085.2_Missense_Mutation_p.P455S|FMO3_ENST00000538429.1_Missense_Mutation_p.P392S|FMO3_ENST00000542847.1_Missense_Mutation_p.P435S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 455 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTCACAGATCCCAAATTGGC 0.493000 43 67 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41652434 41652434 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr4:41652434G>A ENST00000313860.7 + 13 1744 c.1690G>A c.(1690-1692)Gga>Aga p.G564R LIMCH1_ENST00000512946.1_Missense_Mutation_p.G564R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G405R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G949R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G398R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G405R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G410R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G564R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G564R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G393R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G398R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G552R NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 564 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CAGTGTGAATGGAGAGACGGT 0.458000 20 52 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31266492 31266492 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:31266492C>T ENST00000332585.6 + 3 1034 c.930C>T c.(928-930)tcC>tcT p.S310S OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Silent_p.S145S|OSBP2_ENST00000446658.2_Silent_p.S310S|OSBP2_ENST00000407373.1_Silent_p.S137S|OSBP2_ENST00000437268.2_Silent_p.S52S|OSBP2_ENST00000382310.3_Silent_p.S310S NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 310 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGAATCTTTCCCTGAAGTTAG 0.562000 33 45 0 0 1 0 0 RLN3 117579 broad.mit.edu 37 19 14141628 14141628 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:14141628C>T ENST00000431365.2 + 2 354 c.297C>T c.(295-297)gcC>gcT p.A99A RLN3_ENST00000585987.1_3'UTR NM_080864.2 NP_543140.1 Q8WXF3 REL3_HUMAN relaxin 3 99 extracellular region hormone activity endometrium(1)|lung(4) 5 CACCCCAGGCCTTTTACAGGG 0.642000 68 64 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131765234 131765234 + Missense_Mutation SNP C C A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr9:131765234C>A ENST00000372577.2 + 37 4297 c.4276C>A c.(4276-4278)Cac>Aac p.H1426N NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1426 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CGTGGGTGTCCACCAGGAGCG 0.592000 32 37 8.16721e-17 8.48133e-17 1 1 0 SERPINA7 6906 broad.mit.edu 37 X 105279124 105279124 + Nonsense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chrX:105279124C>T ENST00000327674.4 - 2 1210 c.875G>A c.(874-876)tGg>tAg p.W292* SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Nonsense_Mutation_p.W292* P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 292 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TAAGCGGTTCCACTTCTTCAG 0.493000 136 29 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84649805 84649805 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:84649805G>A ENST00000369681.4 + 13 1279 c.1139G>A c.(1138-1140)gGc>gAc p.G380D CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 380 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) AGTCCTGAGGGCAATTTTAAA 0.338000 13 33 0 0 1 0 0 RAB33B 83452 broad.mit.edu 37 4 140394000 140394000 + Missense_Mutation SNP T T C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr4:140394000T>C ENST00000305626.5 + 2 799 c.410T>C c.(409-411)cTa>cCa p.L137P NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 137 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) CAACATTTGCTAGCCAATGAT 0.398000 73 106 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27529115 27529115 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:27529115C>T ENST00000296098.4 + 8 1297 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W TRIM54_ENST00000380075.2_Missense_Mutation_p.R301W NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 301 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGGCAGGGCGGCCGGAGCC 0.647000 48 65 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49020365 49020365 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:49020365G>A ENST00000356401.4 + 15 1702 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K RP13-131K19.1_ENST00000429681.1_RNA|ARIH2_ENST00000449376.1_Missense_Mutation_p.E455K|RP13-131K19.1_ENST00000415982.1_RNA NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 455 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GGCTGAGATCGAAAACCTCTC 0.537000 34 60 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220100289 220100289 + Silent SNP C C T rs140463651 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:220100289C>T ENST00000323348.5 + 11 1959 c.1785C>T c.(1783-1785)taC>taT p.Y595Y ANKZF1_ENST00000409849.1_Silent_p.Y385Y|ANKZF1_ENST00000410034.3_Silent_p.Y595Y NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 595 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGATGCCTACGATTACAACA 0.493000 49 57 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 61 38 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5754592 5754592 + Silent SNP G G A rs111234281 byFrequency TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr4:5754592G>A ENST00000382674.2 + 9 1312 c.1128G>A c.(1126-1128)gcG>gcA p.A376A EVC_ENST00000264956.6_Silent_p.A376A|EVC_ENST00000509451.1_Silent_p.A376A P57679 EVC_HUMAN Ellis van Creveld syndrome 376 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TGGGGCGGGCGCACATGGCAA 0.587000 42 70 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8717816 8717816 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr20:8717816G>A ENST00000378641.3 + 20 2660 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K PLCB1_ENST00000378637.2_Missense_Mutation_p.E729K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 729 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGTCTGGGAAGAAGAACCTAT 0.378000 21 39 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458698 45458698 + RNA SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:45458698C>T ENST00000548424.1 + 0 448 GAACCAGATTCATCGCTAATT 0.433000 19 7 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118969804 118969804 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr9:118969804C>T ENST00000328252.3 + 3 1917 c.1548C>T c.(1546-1548)ttC>ttT p.F516F PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 516 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCAATATTTTCTTTGCAAAAT 0.433000 20 46 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70617301 70617301 + Missense_Mutation SNP A A C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr8:70617301A>C ENST00000260126.3 - 6 2293 c.1587T>G c.(1585-1587)atT>atG p.I529M SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I474M|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.I529M NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 529 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCCCTAGATTAATGCTTTCAC 0.433000 51 64 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121001176 121001176 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:121001176C>T ENST00000273666.6 + 20 2445 c.2174C>T c.(2173-2175)tCc>tTc p.S725F STXBP5L_ENST00000471454.1_Intron|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S725F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S725F|STXBP5L_ENST00000472879.1_Intron NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 725 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATCCGTACTTCCTATCAGAGT 0.393000 16 27 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138642 55138642 + Missense_Mutation SNP C C T rs143344944 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr4:55138642C>T ENST00000257290.5 + 9 1650 c.1319C>T c.(1318-1320)aCg>aTg p.T440M FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 440 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GCTGAAGGCACGCCGCTTCCT 0.463000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 36 59 0 0 1 0 0 ZDHHC20 253832 broad.mit.edu 37 13 21961722 21961722 + Missense_Mutation SNP G G C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr13:21961722G>C ENST00000400590.3 - 9 977 c.779C>G c.(778-780)tCt>tGt p.S260C ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S260C|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.S260C|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S197C|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S260C Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 260 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) GCATCCAAGAGAGAAACCATT 0.318000 3 2 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38910653 38910653 + Splice_Site SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:38910653G>A ENST00000454404.2 - 6 723 c.509_splice c.e6-1 p.L170_splice RASGRP4_ENST00000433821.2_Splice_Site_p.L170_splice|RASGRP4_ENST00000293062.9_Splice_Site_p.L170_splice|RASGRP4_ENST00000426920.2_Splice_Site_p.L170_splice|RASGRP4_ENST00000586305.1_Intron|RASGRP4_ENST00000587753.1_Splice_Site_p.L170_splice|RASGRP4_ENST00000587738.1_Splice_Site_p.L170_splice NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 170 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGGGCTCAGGCTGGGGGCCA 0.627000 23 23 0 0 1 0 0 MKRN2 23609 broad.mit.edu 37 3 12613781 12613781 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:12613781C>T ENST00000170447.7 + 4 688 c.551C>T c.(550-552)gCc>gTc p.A184V MKRN2_ENST00000411987.1_Missense_Mutation_p.A141V|MKRN2_ENST00000448482.1_Missense_Mutation_p.A182V NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 184 intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 TTTGGGGATGCCTGTGTCTAC 0.577000 26 45 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141110585 141110585 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:141110585C>T ENST00000389484.3 - 76 12558 c.11587G>A c.(11587-11589)Gga>Aga p.G3863R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3863 EGF-like 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATATGATCCTTCCACATTT 0.343000 TSP Lung(27;0.18) 37 46 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980683 121980683 + Silent SNP C C T rs148721982 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:121980683C>T ENST00000498619.1 + 4 1239 c.801C>T c.(799-801)atC>atT p.I267I CASR_ENST00000490131.1_Silent_p.I267I|CASR_ENST00000296154.5_Silent_p.I267I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 267 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.I267I(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAAAGTCATCGTGGTTTTCT 0.527000 83 110 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 15978067 15978067 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr8:15978067C>T ENST00000262101.5 - 9 1203 c.1082G>A c.(1081-1083)gGg>gAg p.G361E MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.G379E|MSR1_ENST00000350896.3_Intron P21757 MSRE_HUMAN macrophage scavenger receptor 1 361 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTCCACCCTCCCCTCGTGAGG 0.493000 62 18 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37485814 37485814 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:37485814G>A ENST00000381792.2 - 7 780 c.640C>T c.(640-642)Cgc>Tgc p.R214C TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R223C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R214C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R214C|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R223C Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 223 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TAGCTGTAGCGGTAACAACCT 0.677000 6 20 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200959121 200959121 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:200959121C>T ENST00000332129.2 - 21 3397 c.3081G>A c.(3079-3081)ctG>ctA p.L1027L KIF21B_ENST00000422435.2_Silent_p.L1027L|KIF21B_ENST00000461742.2_Silent_p.L1027L|KIF21B_ENST00000360529.5_Silent_p.L1027L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1027 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGGCTTCAGCCAGGGAGCAGG 0.622000 35 48 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 5 20 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74459660 74459660 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:74459660C>T ENST00000394019.2 - 24 3107 c.2710G>A c.(2710-2712)Gac>Aac p.D904N SLC4A5_ENST00000377632.1_Missense_Mutation_p.D904N|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D904N|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D802N|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D904N|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D904N|SLC4A5_ENST00000423644.1_Intron|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D802N|SLC4A5_ENST00000483195.1_Intron NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 904 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 TTGAGGCTGTCGATGTGGGCG 0.612000 73 97 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31478032 31478032 + Missense_Mutation SNP G G T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr16:31478032G>T ENST00000408912.3 + 8 3232 c.2915G>T c.(2914-2916)cGg>cTg p.R972L ARMC5_ENST00000538189.1_Missense_Mutation_p.R909L|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000563544.1_Missense_Mutation_p.R877L|ARMC5_ENST00000412665.2_Missense_Mutation_p.R521L|ARMC5_ENST00000268314.4_Missense_Mutation_p.R877L Q96C12 ARMC5_HUMAN armadillo repeat containing 5 877 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGCCTGGGCCGGCCCCGGCTG 0.721000 10 7 0.0692343 0.0692343 1 1 0 SIGLEC7 27036 broad.mit.edu 37 19 51656392 51656392 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:51656392G>A ENST00000317643.6 + 7 1363 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000600577.1_3'UTR|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E339K NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 432 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTCAGGGGAGGAAAGAGAGAT 0.532000 73 140 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10521700 10521700 + Missense_Mutation SNP C C T rs139950075 byFrequency TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:10521700C>T ENST00000444303.2 + 10 1620 c.1148C>T c.(1147-1149)cCa>cTa p.P383L AMPD3_ENST00000396554.3_Missense_Mutation_p.P551L|AMPD3_ENST00000530864.1_3'UTR NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 542 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GACAAGAGCCCAAACCCGGAC 0.567000 54 93 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30416327 30416327 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:30416327C>T ENST00000333027.3 + 17 3007 c.2679C>T c.(2677-2679)ccC>ccT p.P893P MTMR3_ENST00000401950.2_Silent_p.P893P|MTMR3_ENST00000351488.3_Silent_p.P893P|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.P757P|MTMR3_ENST00000406629.1_Silent_p.P893P NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 893 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCGAGAGGCCCCAAGTGGGGT 0.552000 59 69 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145119000 145119000 + Missense_Mutation SNP A A T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:145119000A>T ENST00000367545.3 + 63 9119 c.9119A>T c.(9118-9120)gAt>gTt p.D3040V UTRN_ENST00000367526.4_Missense_Mutation_p.D595V NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3040 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAGTTTATAGATTGGATGCAT 0.378000 31 49 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49663536 49663536 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:49663536G>A ENST00000299338.6 - 12 1376 c.1073C>T c.(1072-1074)tCc>tTc p.S358F NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TTCTTCCTTGGATATGGGCAA 0.269000 38 53 0 0 1 0 0 HS3ST6 64711 broad.mit.edu 37 16 1962089 1962089 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr16:1962089G>A ENST00000454677.2 - 2 647 c.582C>T c.(580-582)atC>atT p.I194I HS3ST6_ENST00000443547.1_Silent_p.I146I|HS3ST6_ENST00000293937.3_Silent_p.I177I C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 146 endometrium(2)|lung(2) 4 GCACCACCACGATCAGCTTCG 0.692000 8 25 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659520 176659520 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:176659520C>T ENST00000367662.3 + 5 3549 c.2385C>T c.(2383-2385)ttC>ttT p.F795F PAPPA2_ENST00000367661.3_Silent_p.F795F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 795 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTGTGGCTTCACTCGCTTCC 0.557000 74 105 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129810158 129810158 + RNA SNP C C T rs6803922 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:129810158C>T ENST00000514010.1 - 0 248 ALG1L2_ENST00000507643.1_RNA CACCTCTGGACCTGCAGCACC 0.587000 4 54 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73205720 73205720 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr5:73205720G>A ENST00000545377.1 + 34 4821 c.4645G>A c.(4645-4647)Gag>Aag p.E1549K ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1549K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1549K|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1505K|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E469K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E1236K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1549K|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E1549K NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GGGTGGCCCCGAGGTATGGAC 0.647000 7 14 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827345 96827345 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:96827345C>T ENST00000371270.3 - 2 366 c.272G>A c.(271-273)gGa>gAa p.G91E CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 91 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AAACTCCTCTCCATTATCAAT 0.428000 37 119 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965933 123965933 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr8:123965933C>T ENST00000314393.4 + 3 3018 c.2183C>T c.(2182-2184)cCa>cTa p.P728L NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 728 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GATGTGGTTCCACAATATTAC 0.527000 64 177 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44914522 44914522 + Missense_Mutation SNP A A T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:44914522A>T ENST00000261866.7 - 13 2356 c.2340T>A c.(2338-2340)aaT>aaA p.N780K SPG11_ENST00000558319.1_Missense_Mutation_p.N780K|SPG11_ENST00000427534.2_Missense_Mutation_p.N780K|SPG11_ENST00000535302.2_Missense_Mutation_p.N780K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 780 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAGAAAAATAATTTTTTTCTT 0.274000 10 13 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345264 5345264 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:5345264C>T ENST00000328813.2 - 1 318 c.264G>A c.(262-264)agG>agA p.R88R HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCTAATCTCCCTGTGATTCA 0.493000 55 80 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61895704 61895704 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr17:61895704C>T ENST00000578681.1 + 19 3364 c.2763C>T c.(2761-2763)gaC>gaT p.D921D DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Silent_p.D921D|DDX42_ENST00000457800.2_Silent_p.D921D|DDX42_ENST00000389924.2_Silent_p.D921D|DDX42_ENST00000359353.5_Silent_p.D802D NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 921 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AGACAGCTGACGGCTTTGCTG 0.473000 52 91 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10273547 10273547 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr20:10273547G>A ENST00000304886.2 + 5 389 c.181G>A c.(181-183)Gaa>Aaa p.E61K SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000254976.2_Intron NM_003081.3 NP_003072.2 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 61 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) CGATCGTGTCGAAGAAGGCAT 0.403000 50 62 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40080504 40080504 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr22:40080504G>A ENST00000401624.1 + 36 6028 c.6028G>A c.(6028-6030)Gta>Ata p.V2010I CACNA1I_ENST00000400164.3_Splice_Site|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1975I|CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000402142.3_Splice_Site|CACNA1I_ENST00000336649.4_Splice_Site Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 0 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCTCCGGCAGGTACCGACACC 0.627000 10 12 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124113992 124113992 + Nonsense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:124113992G>A ENST00000360013.3 + 12 2094 c.1967G>A c.(1966-1968)tGg>tAg p.W656* KALRN_ENST00000240874.3_Nonsense_Mutation_p.W656*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.W656* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 656 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTGTGGACATGGATGGAAGAC 0.542000 30 28 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105846165 105846165 + Splice_Site SNP C C G TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr14:105846165C>G ENST00000447393.1 + 10 1224 c.1050_splice c.e10+1 p.P350_splice PACS2_ENST00000430725.2_Splice_Site_p.P275_splice|PACS2_ENST00000325438.8_Splice_Site_p.P350_splice|PACS2_ENST00000547217.1_Splice_Site_p.P320_splice|PACS2_ENST00000458164.2_Splice_Site_p.P350_splice NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 350 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CCCCCAAGCCCGGTGAGTGGG 0.652000 24 53 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62373585 62373585 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:62373585G>A ENST00000394773.2 - 13 1913 c.1606C>T c.(1606-1608)Cgc>Tgc p.R536C EML3_ENST00000278845.4_Missense_Mutation_p.R537C|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Missense_Mutation_p.R319C|EML3_ENST00000494176.2_Missense_Mutation_p.R508C|EML3_ENST00000529309.1_Missense_Mutation_p.R536C NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 536 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 ACCAGCCGGCGGTCCCGCCCG 0.647000 73 126 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530310 140530310 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr5:140530310G>A ENST00000231136.1 + 1 472 c.472G>A c.(472-474)Gat>Aat p.D158N PCDHB6_ENST00000543635.1_Missense_Mutation_p.D22N NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 158 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGGCACACGATTTAGACAC 0.488000 163 211 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50171585 50171585 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:50171585C>T ENST00000284509.6 - 24 2910 c.2769G>A c.(2767-2769)ggG>ggA p.G923G ATP8B4_ENST00000559829.1_Silent_p.G923G NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 923 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGTCAAAAATCCCCATGGCTA 0.323000 10 23 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748790 43748790 + Silent SNP G G T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr15:43748790G>T ENST00000263801.3 - 12 2253 c.2001C>A c.(1999-2001)atC>atA p.I667I TP53BP1_ENST00000382039.3_Silent_p.I672I|TP53BP1_ENST00000450115.2_Silent_p.I672I|TP53BP1_ENST00000382044.4_Silent_p.I672I NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 667 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTGTCTCAGGGATTTCTTCCA 0.463000 Other conserved DNA damage response genes 80 118 1.91123e-38 2.0408e-38 1 1 0 RBP1 5947 broad.mit.edu 37 3 139237310 139237310 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:139237310C>T ENST00000232219.2 - 3 603 c.493G>A c.(493-495)Gag>Aag p.E165K RP11-319G6.1_ENST00000515247.1_RNA NM_002899.3 NP_002890.2 P09455 RET1_HUMAN retinol binding protein 1, cellular 103 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) CCACGCCCCTCCTTCTCACCC 0.602000 36 56 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100152312 100152312 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:100152312C>T ENST00000370575.4 - 10 987 c.939G>A c.(937-939)aaG>aaA p.K313K PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 313 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 TCACCTGCACCTTCGCCACTG 0.527000 43 101 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30955377 30955377 + Missense_Mutation SNP C C G TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:30955377C>G ENST00000295055.8 - 20 2030 c.1854G>C c.(1852-1854)agG>agC p.R618S CAPN13_ENST00000534090.2_Missense_Mutation_p.R618S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 618 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGTCGCTGTACCTGAGGGTCA 0.607000 10 22 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108123570 108123570 + Missense_Mutation SNP C C T rs141353650 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr9:108123570C>T ENST00000374720.3 + 8 1106 c.859C>T c.(859-861)Cgg>Tgg p.R287W SLC44A1_ENST00000374723.1_Missense_Mutation_p.R287W|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R287W|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R79W NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 287 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) AGACAATCTTCGGGCCCTCCT 0.453000 63 78 0 0 1 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297755 139297755 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:139297755C>T ENST00000406164.1 - 4 704 c.141G>A c.(139-141)gaG>gaA p.E47E NMNAT3_ENST00000296202.7_Silent_p.E84E|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.E47E|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000512391.1_Silent_p.E84E|NMNAT3_ENST00000511444.1_Silent_p.E47E Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 84 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 CCTGCTCACTCTCCCAAGGGT 0.592000 33 49 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62676069 62676069 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:62676069C>T ENST00000498273.1 + 4 1918 c.1623C>T c.(1621-1623)ccC>ccT p.P541P NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 541 p.P541P(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 CAGCTGTGCCCACAAGTCAAG 0.458000 27 57 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141799531 141799531 + Missense_Mutation SNP A A C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:141799531A>C ENST00000475668.2 + 67 7922 c.7868A>C c.(7867-7869)cAc>cCc p.H2623P MGAM_ENST00000549489.2_Missense_Mutation_p.H1727P O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1727 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.H1727P(1) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGAACACCCACTTAAGGTAA 0.478000 22 37 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74317022 74317022 + Splice_Site SNP A A T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:74317022A>T ENST00000409262.3 + 5 2483 c.e5-1 NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGTGTGTTGCAGCCGGACCTG 0.567000 97 140 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96480165 96480165 + Missense_Mutation SNP C C A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr10:96480165C>A ENST00000285979.6 + 6 1031 c.832C>A c.(832-834)Caa>Aaa p.Q278K CYP2C18_ENST00000339022.5_Missense_Mutation_p.Q219K|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) AAAGCACAATCAACAGTCTGA 0.333000 22 59 2.54575e-18 2.67304e-18 1 1 0 IQSEC1 9922 broad.mit.edu 37 3 12978144 12978144 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:12978144G>A ENST00000273221.4 - 3 630 c.414C>T c.(412-414)gcC>gcT p.A138A IQSEC1_ENST00000473088.1_5'UTR NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 138 IQ. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGATGGTGCGGGCCGCATGGC 0.592000 17 19 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93755394 93755394 + Splice_Site SNP A A C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:93755394A>C ENST00000535334.1 + 4 700 c.e4-1 ARL13B_ENST00000539730.1_Splice_Site|ARL13B_ENST00000471138.1_Splice_Site|ARL13B_ENST00000394222.3_Splice_Site|ARL13B_ENST00000303097.7_Splice_Site|ARL13B_ENST00000486562.1_Splice_Site NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 TTTCTGTTTTAGGAACCATGT 0.313000 27 39 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 6 66 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2903149 2903149 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr16:2903149C>T ENST00000161006.3 - 6 964 c.899G>A c.(898-900)gGg>gAg p.G300E PRSS22_ENST00000571228.1_Missense_Mutation_p.G190E NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 300 proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 GGCCCCACCCCCCTGAGCGCG 0.736000 20 25 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57605312 57605312 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:57605312C>T ENST00000243077.3 + 85 13600 c.13134C>T c.(13132-13134)gtC>gtT p.V4378V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4378 EGF-like 22. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACCTGCGTCGGCCACTGCA 0.637000 37 37 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633346 106633346 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:106633346G>A ENST00000378026.4 - 2 1401 c.1265C>T c.(1264-1266)tCc>tTc p.S422F NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 422 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CACCTGCATGGAGAGCACCCC 0.657000 46 65 0 0 1 0 0 OR2A42 402317 broad.mit.edu 37 7 143929631 143929631 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:143929631G>A ENST00000391496.1 - 1 305 c.306C>T c.(304-306)ctC>ctT p.L102L RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000489077.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000477797.1_RNA NM_001001802.2 NP_001001802.2 olfactory receptor, family 2, subfamily A, member 42 breast(1)|kidney(1)|large_intestine(1)|skin(1) 4 Melanoma(164;0.14) AACTCAAACAGAGAAAGGTCT 0.557000 183 124 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234536942 234536942 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:234536942C>T ENST00000040877.1 - 25 4055 c.4056G>A c.(4054-4056)aaG>aaA p.K1352K TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1352 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GACAATAATCCTTGAGTGGGT 0.363000 9 5 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124416315 124416315 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:124416315C>T ENST00000409039.3 + 74 12720 c.12695C>T c.(12694-12696)tCg>tTg p.S4232L DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4232 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCCCCCACTTCGGTGGTGCTC 0.522000 65 24 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182783380 182783380 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr2:182783380C>T ENST00000431877.2 + 12 3022 c.2843C>T c.(2842-2844)tCa>tTa p.S948L SSFA2_ENST00000320370.7_Missense_Mutation_p.S948L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S457L|SSFA2_ENST00000409001.1_Missense_Mutation_p.S948L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S795L NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 948 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACTCAGAAATCATCTGTTCTA 0.313000 21 33 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84649789 84649789 + Missense_Mutation SNP G G C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:84649789G>C ENST00000369681.4 + 13 1263 c.1123G>C c.(1123-1125)Gta>Cta p.V375L CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 375 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) TTTTGTTTCTGTAAGCAGTCC 0.338000 15 28 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19351414 19351414 + Missense_Mutation SNP T T C TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:19351414T>C ENST00000252575.5 + 12 3455 c.3412T>C c.(3412-3414)Ttt>Ctt p.F1138L NCAN_ENST00000538881.1_Missense_Mutation_p.F589L NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1138 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCCTGCAGGCTTTGGGCATGA 0.632000 37 71 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13721894 13721894 + Missense_Mutation SNP G G T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:13721894G>T ENST00000354817.3 + 3 364 c.220G>T c.(220-222)Gat>Tat p.D74Y NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 74 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 TGAAAATCCAGATTTTAGAGA 0.328000 24 24 9.57634e-11 9.83657e-11 1 1 0 DYNC2H1 79659 broad.mit.edu 37 11 102992106 102992106 + Nonsense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:102992106C>T ENST00000375735.2 + 10 1510 c.1366C>T c.(1366-1368)Cga>Tga p.R456* DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R456*|DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R456* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 456 Stem (By similarity). R -> Q (in dbSNP:rs17099969). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TATAGATTTTCGATTAGACTT 0.353000 15 6 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100013927 100013927 + Splice_Site SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:100013927C>T ENST00000398027.2 - 7 879 c.e7+1 ZCWPW1_ENST00000490721.1_Splice_Site|ZCWPW1_ENST00000324725.6_Splice_Site|ZCWPW1_ENST00000360951.4_Splice_Site NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACTGTACTTACGAGCTTCCTT 0.463000 91 91 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30330842 30330842 + Silent SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr21:30330842C>T ENST00000361371.4 - 14 2763 c.2613G>A c.(2611-2613)ctG>ctA p.L871L LTN1_ENST00000389194.2_Silent_p.L917L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 871 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AAGTATTTTTCAGTTTACAGA 0.338000 18 34 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57858949 57858949 + Missense_Mutation SNP T T A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:57858949T>A ENST00000228682.2 + 5 536 c.445T>A c.(445-447)Ttt>Att p.F149I GLI1_ENST00000546141.1_Missense_Mutation_p.F108I|GLI1_ENST00000543426.1_Missense_Mutation_p.F21I NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 149 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTCGCCTTCCTTTGGGGTCCA 0.582000 32 53 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112322892 112322892 + Silent SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr1:112322892G>A ENST00000369697.1 - 4 1485 c.1416C>T c.(1414-1416)atC>atT p.I472I KCND3_ENST00000315987.2_Silent_p.I472I|KCND3_ENST00000302127.4_Silent_p.I472I Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 472 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GCTGGCTCTCGATGAGTGAGG 0.522000 5 2 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8377401 8377401 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr12:8377401C>T ENST00000538603.1 - 4 586 c.28G>A c.(28-30)Ggg>Agg p.G10R FAM90A1_ENST00000307435.6_Missense_Mutation_p.G10R NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 10 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) CTCTTTGCCCCAGGTTTGGGG 0.587000 12 34 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464742 2464742 + Missense_Mutation SNP G G A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr20:2464742G>A ENST00000278772.4 - 6 1352 c.865C>T c.(865-867)Cgt>Tgt p.R289C RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GAGTGTATACGATGGTGTCTG 0.478000 60 60 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381609 156381609 + Missense_Mutation SNP C C T TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr5:156381609C>T ENST00000274532.2 - 2 273 c.217G>A c.(217-219)Gga>Aga p.G73R TIMD4_ENST00000407087.3_Missense_Mutation_p.G73R NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 73 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCCTCATTCCATCAGTGCGG 0.517000 46 87 0 0 1 0 0 RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 2 4 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agg>ag p.SR81del RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.S81R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCTCCTCCTCctgctgctgctgc 0.685 2 4 --- --- --- --- USP42 84132 broad.mit.edu 37 7 6196639 6196651 + Frame_Shift_Del DEL GGATGGAAAGCAG GGATGGAAAGCAG - TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr7:6196639_6196651delGGATGGAAAGCAG ENST00000306177.5 + 16 4054_4066 c.3896_3908delGGATGGAAAGCAG c.(3895-3909)cgfs p.RMESR1299fs NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 1299 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) AAACACTTACGGATGGAAAGCAGGGATGACAGG 0.498 7 38 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662745 6662746 + In_Frame_Ins INS - - CAG rs56194704 TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr11:6662745_6662746insCAG ENST00000299441.3 - 2 510_511 c.99_100insCTG c.(97-102)ctgggc>ctCTGgggc p.33_34LG>LWG NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L33_G34insL(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCCAGCCCCcagcagcagca 0.639 6 8 --- --- --- --- NLRP9 338321 broad.mit.edu 37 19 56249721 56249722 + Frame_Shift_Ins INS - - A TCGA-EB-A42Z-01A-12D-A24R-08 TCGA-EB-A42Z-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38250869-6a70-452f-83b0-ea53699714a4 fb86b319-a7ec-4577-9aa7-8875a28edcd9 g.chr19:56249721_56249722insA ENST00000332836.2 - 1 46_47 c.19_20insT c.(19-21)ggafs p.G7fs NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 7 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCCAAAATCCGAAAAAAAAGAT 0.396 7 194 --- --- --- ---