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 TRAT1 50852 broad.mit.edu 37 3 108572480 108572480 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:108572480C>A ENST00000295756.6 + 6 547 c.317C>A c.(316-318)aCa>aAa p.T106K TRAT1_ENST00000426646.1_Missense_Mutation_p.T69K NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 106 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGAAACACAGATGTGC 0.408000 26 69 9.65021e-13 8.50576e-12 0.000339439 1 0 PKHD1 5314 broad.mit.edu 37 6 51893100 51893100 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:51893100A>T ENST00000371117.3 - 30 3689 c.3414T>A c.(3412-3414)gaT>gaA p.D1138E PKHD1_ENST00000340994.4_Missense_Mutation_p.D1138E NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1138 IPT/TIG 6; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCACATCCAAATCCGTATAGT 0.582000 5 76 0 0 8.12818e-05 0 0 OR10J5 127385 broad.mit.edu 37 1 159505080 159505080 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:159505080A>T ENST00000334857.2 - 1 762 c.718T>A c.(718-720)Tgt>Agt p.C240S NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) TGGGAGACACAGGTGGCAAAG 0.478000 7 73 0 0 0.000274275 0 0 NPR1 4881 broad.mit.edu 37 1 153659772 153659772 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:153659772G>A ENST00000368680.3 + 13 2504 c.2032G>A c.(2032-2034)Gac>Aac p.D678N NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 678 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CAAGATCACCGACTATGGGCT 0.552000 22 42 0 0 0.000375601 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874171 48874171 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:48874171T>C ENST00000394754.1 + 8 3194 c.3080T>C c.(3079-3081)gTa>gCa p.V1027A LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V1027A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V323A|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V980A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V1027A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V1027A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V289A NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 980 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AACATACCTGTATCAGAGAAG 0.378000 6 19 0 0 0.00116845 0 0 DEPDC1 55635 broad.mit.edu 37 1 68942745 68942745 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:68942745T>A ENST00000456315.2 - 12 2420 c.2306A>T c.(2305-2307)aAg>aTg p.K769M DEPDC1_ENST00000370966.5_Missense_Mutation_p.K485M NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 769 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) AGGATATTCCTTCTGAAACTT 0.343000 7 40 0 0 0.000274275 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175447 207175447 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:207175447C>A ENST00000374423.3 + 5 6581 c.6195C>A c.(6193-6195)ccC>ccA p.P2065P NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2065 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTAGTCCTCCCCTGAGTGTAA 0.358000 5 21 0.000602214 0.00411005 0.000602214 1 0 KRT77 374454 broad.mit.edu 37 12 53097080 53097080 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:53097080C>T ENST00000341809.3 - 1 167 c.139G>A c.(139-141)Ggt>Agt p.G47S KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 47 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCATATCCACCACCACCACAC 0.547000 16 53 0 0 0.00121646 0 0 SIK1 150094 broad.mit.edu 37 21 44840290 44840290 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr21:44840290G>A ENST00000270162.6 - 8 928 c.796C>T c.(796-798)Cgc>Tgc p.R266C NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 266 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 ATGGTGATGCGCCTGGCGGGG 0.716000 4 22 0 0 0.00116845 0 0 CIT 11113 broad.mit.edu 37 12 120135822 120135822 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:120135822G>A ENST00000392521.2 - 45 5716 c.5661C>T c.(5659-5661)aaC>aaT p.N1887N CIT_ENST00000261833.7_Silent_p.N1845N|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1845 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTTCGAGTGAGTTGAAGTGGG 0.502000 9 192 0 0 0.000673444 0 0 FLG2 388698 broad.mit.edu 37 1 152327618 152327618 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:152327618A>G ENST00000388718.5 - 3 2716 c.2644T>C c.(2644-2646)Tct>Cct p.S882P FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 882 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAGCCAGAGTATTGACCT 0.498000 72 516 0 0 0.000781405 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19687575 19687575 + Splice_Site SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr21:19687575T>C ENST00000284885.3 - 17 1955 c.e17-2 NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGCATGGCTCTATGGGGAAAG 0.423000 19 19 0 0 0.00121646 0 0 IL17A 3605 broad.mit.edu 37 6 52053913 52053913 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:52053913G>T ENST00000340057.1 + 3 336 c.291G>T c.(289-291)ttG>ttT p.L97F NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 97 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) GCCGCCACTTGGGCTGCATCA 0.567000 19 23 7.21436e-19 7.10898e-18 0.00121646 1 0 CCDC3 83643 broad.mit.edu 37 10 12940463 12940463 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:12940463G>A ENST00000378839.1 - 7 1343 c.391C>T c.(391-393)Cac>Tac p.H131Y CCDC3_ENST00000378825.3_Missense_Mutation_p.H256Y Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 256 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) GCATTGATGTGCGGCAGCGCG 0.672000 15 27 0 0 0.000219431 0 0 MYH11 4629 broad.mit.edu 37 16 15876300 15876300 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:15876300G>T ENST00000338282.6 - 6 774 c.668C>A c.(667-669)cCg>cAg p.P223Q MYH11_ENST00000576790.1_Missense_Mutation_p.P223Q|MYH11_ENST00000452625.2_Missense_Mutation_p.P230Q|MYH11_ENST00000300036.5_Missense_Mutation_p.P223Q|MYH11_ENST00000396324.3_Missense_Mutation_p.P230Q NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 223 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTCCAGAATCGGGTTTGCTTG 0.448000 T CBFB AML 22 37 1.1804e-14 1.08399e-13 0.000586117 1 0 LINC00518 221718 broad.mit.edu 37 6 10430313 10430313 + RNA SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:10430313C>A ENST00000496285.1 - 0 722 NR_027793.1 TGggacgggacgagtagccag 0.443000 OREG0017184 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 22 1.2644e-06 9.20235e-06 0.00152264 1 0 IGHA1 3493 broad.mit.edu 37 14 106173826 106173826 + RNA SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:106173826C>G ENST00000390547.2 - 0 740 GGCACGTCAGCGTCACCAGCT 0.667000 25 35 0 0 0.00058488 0 0 DLG2 1740 broad.mit.edu 37 11 83182758 83182758 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:83182758C>T ENST00000398309.2 - 19 2512 c.2042G>A c.(2041-2043)cGg>cAg p.R681Q DLG2_ENST00000404783.3_Missense_Mutation_p.R159Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R786Q|DLG2_ENST00000543673.1_Missense_Mutation_p.R786Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R677Q|DLG2_ENST00000376106.3_Missense_Mutation_p.R145Q|DLG2_ENST00000537455.1_Missense_Mutation_p.R431Q|DLG2_ENST00000280241.8_Missense_Mutation_p.R720Q|DLG2_ENST00000330014.6_Missense_Mutation_p.R602Q|DLG2_ENST00000426717.2_Missense_Mutation_p.R145Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R663Q|DLG2_ENST00000531015.1_Missense_Mutation_p.R648Q|DLG2_ENST00000418306.2_Missense_Mutation_p.R560Q NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 681 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AATCACCGGCCGGGTGTAGTT 0.453000 8 42 0 0 0.000274275 0 0 PABPN1 8106 broad.mit.edu 37 14 23794478 23794478 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:23794478T>C ENST00000216727.4 + 7 1085 c.904T>C c.(904-906)Tgg>Cgg p.W302R BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.W329R|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.W329R|PABPN1_ENST00000556821.1_Missense_Mutation_p.W174R|PABPN1_ENST00000397276.2_3'UTR NM_004643.3 NP_004634.1 poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) AGCGACATCATGGTATTCCCC 0.408000 10 144 0 0 0.00136819 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 7 93 0 0 0.000157383 0 0 OR52A5 390054 broad.mit.edu 37 11 5153211 5153211 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:5153211T>A ENST00000307388.1 - 1 661 c.662A>T c.(661-663)tAt>tTt p.Y221F NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATTTGGACATAGGACAAGGT 0.413000 11 50 0 0 0.00185496 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804562 21804562 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:21804562C>A ENST00000449193.2 - 4 4442 c.2190G>T c.(2188-2190)ttG>ttT p.L730F SKIDA1_ENST00000444772.3_Missense_Mutation_p.L651F NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 CTGTGGTTAACAAGGCGTCCT 0.428000 70 240 4.34595e-34 4.73465e-33 0.000781405 1 0 CAMTA1 23261 broad.mit.edu 37 1 7723642 7723642 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:7723642C>T ENST00000303635.7 + 9 1242 c.1035C>T c.(1033-1035)tcC>tcT p.S345S CAMTA1_ENST00000439411.2_Silent_p.S345S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGGTCTCCTCCACCAACCAGG 0.652000 T WWTR1 epitheliod hemangioendothelioma 18 93 0 0 0.000295444 0 0 ZNF394 84124 broad.mit.edu 37 7 99097322 99097322 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:99097322C>A ENST00000337673.6 - 1 598 c.395G>T c.(394-396)gGg>gTg p.G132V ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.G132V|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 132 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CGCCTCCTCCCCGCTCTCTGG 0.647000 39 104 1.32136e-16 1.25279e-15 0.00195071 1 0 PSAP 5660 broad.mit.edu 37 10 73588830 73588830 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:73588830C>A ENST00000394936.3 - 5 527 c.380G>T c.(379-381)cGt>cTt p.R127L PSAP_ENST00000394934.1_Missense_Mutation_p.R127L P07602 SAP_HUMAN prosaposin 127 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 CTCCCCAGGACGGCTCTGGTG 0.517000 19 46 5.26018e-13 4.68343e-12 0.00188189 1 0 ADAM19 8728 broad.mit.edu 37 5 156915443 156915443 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:156915443G>T ENST00000257527.4 - 21 2458 c.2380C>A c.(2380-2382)Cct>Act p.P794T ADAM19_ENST00000517905.1_Missense_Mutation_p.P794T|ADAM19_ENST00000430702.2_Missense_Mutation_p.P527T|ADAM19_ENST00000394020.1_Missense_Mutation_p.P796T NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 794 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAATCTGGAGGGGGCCGGGGA 0.602000 22 34 2.27525e-19 2.28045e-18 0.000586117 1 0 ZDHHC21 340481 broad.mit.edu 37 9 14658885 14658885 + Splice_Site SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:14658885C>A ENST00000380916.3 - 7 832 c.365_splice c.e7-1 p.W122_splice NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 122 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) AATTGTTAATCCTAAAGAAAA 0.303000 20 38 6.44725e-10 5.16369e-09 0.000295444 1 0 ZHX2 22882 broad.mit.edu 37 8 123965337 123965337 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:123965337C>T ENST00000314393.4 + 3 2422 c.1587C>T c.(1585-1587)gcC>gcT p.A529A NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 529 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) CAGACTTTGCCCCCCAGAAGT 0.517000 7 62 0 0 8.12818e-05 0 0 MYT1L 23040 broad.mit.edu 37 2 1906916 1906916 + Silent SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:1906916A>G ENST00000399161.2 - 14 2715 c.1968T>C c.(1966-1968)taT>taC p.Y656Y MYT1L_ENST00000428368.2_Silent_p.Y654Y NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 656 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y656Y(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTCGCTTGCCATAAGTATGGT 0.483000 25 57 0 0 0.00178596 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616573 77616573 + Nonsense_Mutation SNP G G T rs144986646 by1000genomes TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:77616573G>T ENST00000521891.2 + 2 698 c.250G>T c.(250-252)Gaa>Taa p.E84* ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E84*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E84*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E84* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 84 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCCTGCAACGAATGTGCCAC 0.507000 HNSCC(33;0.089) 85 164 9.86815e-39 1.0886e-37 0.000781405 1 0 KCNQ4 9132 broad.mit.edu 37 1 41300770 41300770 + Splice_Site SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:41300770G>C ENST00000347132.5 + 12 1827 c.1745_splice c.e12+1 p.R582_splice KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Splice_Site_p.R528_splice NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 582 A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CTGCAAACTCGGTGGGTGCAC 0.637000 15 65 0 0 0.000958276 0 0 DPP6 1804 broad.mit.edu 37 7 154672598 154672598 + Splice_Site SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:154672598G>T ENST00000404039.1 + 21 2474 c.1886_splice c.e21-1 p.R629_splice DPP6_ENST00000377770.3_Splice_Site_p.R693_splice|DPP6_ENST00000427557.1_Splice_Site_p.R586_splice|DPP6_ENST00000332007.3_Splice_Site_p.R631_splice NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 693 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GACCTCACAGGACGATGCTGA 0.552000 27 49 2.46105e-21 2.53923e-20 0.000339439 1 0 DCLRE1C 64421 broad.mit.edu 37 10 14978555 14978555 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:14978555T>A ENST00000378289.4 - 5 765 c.344A>T c.(343-345)cAc>cTc p.H115L DCLRE1C_ENST00000378278.2_Missense_Mutation_p.H115L|DCLRE1C_ENST00000357717.2_Intron|DCLRE1C_ENST00000378249.1_Intron|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378246.2_Intron Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 115 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 TCCCGGACAGTGACCAGCTGG 0.318000 Non-homologous end-joining 12 27 0 0 0.000308642 0 0 CRYGA 1418 broad.mit.edu 37 2 209028094 209028094 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:209028094T>C ENST00000304502.4 - 2 105 c.86A>G c.(85-87)tAc>tGc p.Y29C NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GCGGCTGAAGTAGACCCGCAG 0.557000 4 66 0 0 0.00024832 0 0 LRP1B 53353 broad.mit.edu 37 2 141946127 141946127 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:141946127C>A ENST00000389484.3 - 7 1847 c.876G>T c.(874-876)tgG>tgT p.W292C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 292 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) TTCGAGTGAGCCAGTCAATCG 0.403000 TSP Lung(27;0.18) 10 40 0.000151284 0.00105299 0.00185496 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736185 140736185 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:140736185C>A ENST00000571252.1 + 1 1418 c.1418C>A c.(1417-1419)tCt>tAt p.S473Y PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCATCTTATCTATGACTGCT 0.517000 21 96 7.88262e-20 8.03844e-19 0.00047179 1 0 FRMD7 90167 broad.mit.edu 37 X 131212726 131212726 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:131212726C>T ENST00000298542.4 - 12 1494 c.1319G>A c.(1318-1320)aGg>aAg p.R440K FRMD7_ENST00000370879.1_Missense_Mutation_p.R320K|FRMD7_ENST00000464296.1_Missense_Mutation_p.R425K NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 440 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TAGAGAACTCCTCTCTGAAAA 0.438000 73 49 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9021069 9021069 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:9021069C>T ENST00000397910.4 - 19 37457 c.37254G>A c.(37252-37254)agG>agA p.R12418R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12420 SEA 3. 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 CCTGCAGGACCCTCTCTGTGG 0.542000 6 113 0 0 0.00116845 0 0 ZNF331 55422 broad.mit.edu 37 19 54081028 54081028 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:54081028A>T ENST00000253144.9 + 7 2547 c.1214A>T c.(1213-1215)cAt>cTt p.H405L ZNF331_ENST00000511154.1_Missense_Mutation_p.H405L|ZNF331_ENST00000512387.1_Missense_Mutation_p.H405L|ZNF331_ENST00000411977.2_Missense_Mutation_p.H405L|ZNF331_ENST00000449416.1_Missense_Mutation_p.H405L|ZNF331_ENST00000513999.1_Missense_Mutation_p.H405L|ZNF331_ENST00000511593.2_Missense_Mutation_p.H405L NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GAGAGAATTCATACCGGGGTG 0.488000 T ? follicular thyroid adenoma 12 17 0 0 0.000219431 0 0 PLB1 151056 broad.mit.edu 37 2 28761239 28761239 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:28761239G>T ENST00000422425.2 + 10 686 c.642G>T c.(640-642)ctG>ctT p.L214L PLB1_ENST00000327757.5_Silent_p.L203L NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 203 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGACTACCTGCAGCAGGAGG 0.652000 7 22 6.5536e-12 5.63481e-11 0.000157383 1 0 UFD1L 7353 broad.mit.edu 37 22 19444129 19444129 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr22:19444129G>C ENST00000263202.9 - 9 788 c.659C>G c.(658-660)gCt>gGt p.A220G UFD1L_ENST00000399523.1_Missense_Mutation_p.A220G|UFD1L_ENST00000360834.4_Missense_Mutation_p.A209G NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) 220 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) CAGCTCTCCAGCATAGCCACT 0.557000 16 93 0 0 0.000295444 0 0 RP1L1 94137 broad.mit.edu 37 8 10466437 10466437 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:10466437T>A ENST00000382483.3 - 4 5394 c.5171A>T c.(5170-5172)cAg>cTg p.Q1724L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1724 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCAGCTCCCTGGACAGTCCT 0.642000 47 97 0 0 0.000781405 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508598 37508598 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:37508598G>T ENST00000374660.1 + 40 4246 c.4147G>T c.(4147-4149)Gat>Tat p.D1383Y ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D1264Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D1264Y Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1320 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GGAGTCTCTAGATCAGAAATT 0.358000 15 33 1.5739e-10 1.29001e-09 0.000422831 1 0 SV2C 22987 broad.mit.edu 37 5 75587140 75587140 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:75587140G>T ENST00000502798.2 + 7 1674 c.1232G>T c.(1231-1233)cGc>cTc p.R411L RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.R411L NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 411 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GTTCGGATCCGCACCGAGCTG 0.423000 21 41 1.85244e-09 1.45053e-08 0.00047179 1 0 OR2B11 127623 broad.mit.edu 37 1 247614761 247614761 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:247614761C>T ENST00000318749.6 - 1 547 c.524G>A c.(523-525)cGg>cAg p.R175Q NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CAGCACCTGCCGCCCGCAGAA 0.602000 7 20 0 0 0.000157383 0 0 FLNC 2318 broad.mit.edu 37 7 128494262 128494262 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:128494262A>C ENST00000325888.8 + 40 6980 c.6719A>C c.(6718-6720)cAg>cCg p.Q2240P FLNC_ENST00000346177.6_Missense_Mutation_p.Q2207P|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2240 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATCACCCGGCAGCAGGAGGGT 0.706000 6 29 0 0 0.000673444 0 0 NUP155 9631 broad.mit.edu 37 5 37370993 37370993 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:37370993G>A ENST00000231498.3 - 1 290 c.87C>T c.(85-87)ctC>ctT p.L29L NUP155_ENST00000513532.1_Silent_p.L29L NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 29 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACGGTCGATGAGCCGTCCAG 0.577000 15 49 0 0 0.000308642 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128945479 128945479 + Nonsense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:128945479C>A ENST00000357166.6 - 9 1175 c.784G>T c.(784-786)Gga>Tga p.G262* ZDHHC9_ENST00000371064.3_Nonsense_Mutation_p.G262* NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 262 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GTCCATGATCCTTTGATCTGC 0.378000 17 8 1.01871e-10 8.46835e-10 0.00121646 1 0 UNC45B 146862 broad.mit.edu 37 17 33504085 33504085 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:33504085C>A ENST00000268876.5 + 16 2178 c.2081C>A c.(2080-2082)gCa>gAa p.A694E UNC45B_ENST00000394570.2_Missense_Mutation_p.A692E|UNC45B_ENST00000591048.1_Missense_Mutation_p.A613E|UNC45B_ENST00000433649.1_Missense_Mutation_p.A692E|UNC45B_ENST00000378449.1_Missense_Mutation_p.A613E NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 694 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AAGGTGAAGGCAGCCCACGCT 0.562000 23 69 4.59853e-10 3.71697e-09 0.000878237 1 0 STK31 56164 broad.mit.edu 37 7 23871859 23871859 + Silent SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:23871859A>G ENST00000354639.3 + 24 3329 c.2865A>G c.(2863-2865)caA>caG p.Q955Q STK31_ENST00000355870.3_Silent_p.Q978Q|STK31_ENST00000428484.1_Silent_p.Q955Q|STK31_ENST00000433467.2_Silent_p.Q955Q|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 978 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAAAGGAGCAATCAGTTCCAA 0.348000 8 73 0 0 0.000274275 0 0 SALL1 6299 broad.mit.edu 37 16 51173390 51173390 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:51173390C>T ENST00000440970.1 - 2 2883 c.2452G>A c.(2452-2454)Ggc>Agc p.G818S SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G915S NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 915 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCTGGGCTGCCAGCACTTTGG 0.562000 11 48 0 0 0.000219431 0 0 CSMD3 114788 broad.mit.edu 37 8 113599308 113599308 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:113599308C>A ENST00000297405.5 - 23 4116 c.3872G>T c.(3871-3873)gGa>gTa p.G1291V CSMD3_ENST00000455883.2_Missense_Mutation_p.G1187V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1291V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1251V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1291 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGAACATCTCCTTGTGCTAA 0.299000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 57 2.49991e-28 2.69009e-27 0.00058488 1 0 SLC2A7 155184 broad.mit.edu 37 1 9063388 9063388 + Missense_Mutation SNP C C A rs150069373 by1000genomes TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:9063388C>A ENST00000400906.1 - 12 1509 c.1510G>T c.(1510-1512)Gcc>Tcc p.A504S NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 504 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCAGGAGAGGCTGTGGGAGGC 0.522000 17 29 1.56452e-12 1.37209e-11 0.000958276 1 0 MUC16 94025 broad.mit.edu 37 19 9074336 9074336 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:9074336G>T ENST00000397910.4 - 3 13313 c.13110C>A c.(13108-13110)agC>agA p.S4370R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4372 Ser-rich.|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 AGGGGTTGGTGCTCACATCTG 0.473000 16 20 6.49762e-13 5.75597e-12 0.00074312 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763811 77763811 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:77763811C>G ENST00000521891.2 + 10 5102 c.4654C>G c.(4654-4656)Caa>Gaa p.Q1552E ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1507E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1507E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1526E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1507 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCATTCACCCAAAAGAACAT 0.403000 HNSCC(33;0.089) 5 27 0 0 0.00116845 0 0 SDK1 221935 broad.mit.edu 37 7 3998580 3998580 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:3998580G>T ENST00000404826.2 + 8 1307 c.1168G>T c.(1168-1170)Gct>Tct p.A390S SDK1_ENST00000389531.3_Missense_Mutation_p.A390S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 390 Ig-like C2-type 4. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ATATTTTACTGCTGAGCCCGA 0.463000 32 108 8.01111e-26 8.46475e-25 0.000509022 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73179510 73179510 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:73179510C>T ENST00000286657.4 - 12 1665 c.1629G>A c.(1627-1629)aaG>aaA p.K543K NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 543 Disintegrin. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATTAGCATTCTTCCACATGC 0.403000 13 87 0 0 0.000308642 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375356 117375356 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:117375356G>A ENST00000160373.3 - 15 3746 c.3655C>T c.(3655-3657)Cgc>Tgc p.R1219C NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1219 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TCAGTGCTGCGATTTTCAAGA 0.383000 12 63 0 0 0.00136819 0 0 GALNT3 2591 broad.mit.edu 37 2 166613653 166613653 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:166613653A>C ENST00000392701.3 - 7 2071 c.1296T>G c.(1294-1296)atT>atG p.I432M GALNT3_ENST00000409882.1_Missense_Mutation_p.I170M NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 432 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 GGTTTCTAGCAATCACCTGAG 0.413000 9 70 0 0 0.00185496 0 0 TMTC1 83857 broad.mit.edu 37 12 29786115 29786115 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:29786115C>T ENST00000256062.5 - 6 1242 c.769G>A c.(769-771)Gcc>Acc p.A257T TMTC1_ENST00000381224.2_Missense_Mutation_p.A319T|TMTC1_ENST00000552618.1_Missense_Mutation_p.A427T|TMTC1_ENST00000539277.1_Missense_Mutation_p.A365T|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.A427T NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 365 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CTCAATAAGGCCATCACAACC 0.458000 38 55 0 0 0.00170553 0 0 MUC4 4585 broad.mit.edu 37 3 195508343 195508343 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:195508343A>T ENST00000463781.3 - 2 10567 c.10108T>A c.(10108-10110)Tcc>Acc p.S3370T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 147 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCACCTGTGGAAGCTGAGGAA 0.587000 3 2 0 0 0.00024832 0 0 IQUB 154865 broad.mit.edu 37 7 123101456 123101456 + Silent SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:123101456T>C ENST00000466202.1 - 11 2538 c.1962A>G c.(1960-1962)acA>acG p.T654T IQUB_ENST00000324698.6_Silent_p.T654T Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 654 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 AATCAGCTTCTGTATAGTAGA 0.378000 16 88 0 0 0.00074312 0 0 TAF1L 138474 broad.mit.edu 37 9 32631721 32631721 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:32631721C>T ENST00000242310.4 - 1 3946 c.3857G>A c.(3856-3858)tGt>tAt p.C1286Y NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1286 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AATGGCACCACATGCCCCACA 0.468000 22 71 0 0 0.000295444 0 0 VIT 5212 broad.mit.edu 37 2 37028445 37028445 + Splice_Site SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:37028445G>A ENST00000379242.3 + 13 1362 c.1058_splice c.e13-1 p.D354_splice VIT_ENST00000389975.3_Splice_Site_p.D339_splice|VIT_ENST00000404084.1_Splice_Site_p.D291_splice|VIT_ENST00000401530.1_Splice_Site_p.D318_splice|VIT_ENST00000497382.1_Splice_Site_p.D8_splice|VIT_ENST00000379241.3_Splice_Site_p.D317_splice NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 339 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ACTCTTCAGAGACAACCCTGC 0.383000 33 209 0 0 0.00195071 0 0 UBE3A 7337 broad.mit.edu 37 15 25650638 25650638 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:25650638G>A ENST00000232165.3 - 4 688 c.32C>T c.(31-33)cCt>cTt p.P11L UBE3A_ENST00000566215.1_5'UTR|UBE3A_ENST00000428984.2_5'UTR|UBE3A_ENST00000438097.1_5'UTR|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.P14L NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 14 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GTCAGACTGAGGTTCTCCTGA 0.353000 20 59 0 0 0.00047179 0 0 CACNA1B 774 broad.mit.edu 37 9 140952585 140952585 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:140952585G>T ENST00000277549.5 + 29 4348 c.1779G>T c.(1777-1779)gtG>gtT p.V593V CACNA1B_ENST00000277551.2_Silent_p.V1397V|CACNA1B_ENST00000371357.1_Silent_p.V1398V|CACNA1B_ENST00000371363.1_Silent_p.V1397V|CACNA1B_ENST00000371355.4_Silent_p.V1398V|CACNA1B_ENST00000371372.1_Silent_p.V1397V Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1397 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTTCTACGTGGTCTACTTTG 0.527000 6 57 2.7689e-08 2.0844e-07 8.12818e-05 1 0 OPRD1 4985 broad.mit.edu 37 1 29189269 29189269 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:29189269G>T ENST00000234961.2 + 3 835 c.593G>T c.(592-594)tGc>tTc p.C198F NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 198 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GCAGTGGTGTGCATGCTCCAG 0.627000 7 25 0.000274275 0.00189401 0.000274275 1 0 EIF4G2 1982 broad.mit.edu 37 11 10819410 10819410 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:10819410A>T ENST00000526148.1 - 22 3187 c.2677T>A c.(2677-2679)Tgg>Agg p.W893R EIF4G2_ENST00000396525.2_Missense_Mutation_p.W855R|EIF4G2_ENST00000525681.1_Missense_Mutation_p.W893R|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.W893R NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 893 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTCTAACCAGGTTAGCCAC 0.343000 13 79 0 0 0.000219431 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209862 140209862 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:140209862A>T ENST00000529310.1 + 1 2300 c.2186A>T c.(2185-2187)gAg>gTg p.E729V PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCCACCGAGGGCGCGTGC 0.677000 10 42 0 0 0.000978159 0 0 C20orf166 128826 broad.mit.edu 37 20 61150840 61150840 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr20:61150840A>G ENST00000370524.2 + 2 755 c.34A>G c.(34-36)Agg>Ggg p.R12G C20orf166_ENST00000370527.3_5'UTR|C20orf166_ENST00000370523.1_Missense_Mutation_p.R12G Q9H1L0 CT166_HUMAN chromosome 20 open reading frame 166 0 endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) AGCCTTCACCAGGGACCTGCC 0.617000 18 13 0 0 0.000958276 0 0 EBF3 253738 broad.mit.edu 37 10 131639112 131639112 + Silent SNP G G A rs147171591 TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:131639112G>A ENST00000368648.3 - 14 1602 c.1530C>T c.(1528-1530)taC>taT p.Y510Y EBF3_ENST00000355311.5_Silent_p.Y519Y NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 519 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) ACTTACTGCCGTAGGGAGAGT 0.507000 13 72 0 0 0.00185496 0 0 PAX1 5075 broad.mit.edu 37 20 21687131 21687131 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr20:21687131C>A ENST00000398485.2 + 2 396 c.342C>A c.(340-342)ccC>ccA p.P114P PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P90P NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 114 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 ACGGCCGCCCCCTGCCCAACG 0.652000 21 39 3.5997e-14 3.28848e-13 0.000295444 1 0 F2R 2149 broad.mit.edu 37 5 76028263 76028263 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:76028263A>T ENST00000319211.4 + 2 478 c.213A>T c.(211-213)ttA>ttT p.L71F NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 71 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AATACAGATTAGTCTCCATCA 0.418000 17 115 0 0 0.00074312 0 0 MCTP2 55784 broad.mit.edu 37 15 95013670 95013670 + Splice_Site SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:95013670G>T ENST00000357742.4 + 20 2469 c.2470_splice c.e20+1 p.W823_splice MCTP2_ENST00000451018.3_Splice_Site_p.W768_splice NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 823 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.W823C(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTTTAATCTGGGGTAAGTTTG 0.403000 30 56 2.42023e-17 2.33247e-16 0.00058488 1 0 ADCY5 111 broad.mit.edu 37 3 123018992 123018992 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:123018992C>A ENST00000462833.1 - 15 4087 c.2875G>T c.(2875-2877)Gac>Tac p.D959Y ADCY5_ENST00000309879.5_Missense_Mutation_p.D609Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.D592Y NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 959 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.D959N(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) ACCAGCAGGTCGGCGTTGTCG 0.612000 44 27 2.74695e-27 2.9379e-26 0.000781405 1 0 FBXO43 286151 broad.mit.edu 37 8 101149819 101149819 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:101149819T>A ENST00000428847.2 - 3 1964 c.1648A>T c.(1648-1650)Atc>Ttc p.I550F NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 550 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AGTTGTGTGATATAAAATTTC 0.303000 9 49 0 0 0.000978159 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678549 37678549 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr13:37678549C>T ENST00000379800.3 - 1 1254 c.845G>A c.(844-846)cGc>cAc p.R282H NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 282 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GAAAAGAATGCGGAATAGCTG 0.488000 13 85 0 0 0.000219431 0 0 NR2F1 7025 broad.mit.edu 37 5 92924056 92924056 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:92924056C>A ENST00000327111.3 + 2 2584 c.897C>A c.(895-897)atC>atA p.I299I NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 299 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGGACCACATCCGCATCTTCC 0.642000 27 39 3.00307e-07 2.23194e-06 0.001512 1 0 COL12A1 1303 broad.mit.edu 37 6 75898122 75898122 + Nonsense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:75898122G>T ENST00000322507.8 - 8 1262 c.953C>A c.(952-954)tCa>tAa p.S318* COL12A1_ENST00000416123.2_Nonsense_Mutation_p.S318*|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.S318* NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 318 cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATCAACACCTGAGCACACCTG 0.413000 53 84 9.77497e-20 9.91058e-19 0.000781405 1 0 JPH1 56704 broad.mit.edu 37 8 75227127 75227127 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:75227127C>T ENST00000342232.4 - 2 1148 c.1108G>A c.(1108-1110)Gcc>Acc p.A370T NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 370 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTGGTTCTGGCCATGGCAGCT 0.448000 11 154 0 0 0.00185496 0 0 NAV2 89797 broad.mit.edu 37 11 19954915 19954915 + Silent SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:19954915G>C ENST00000396085.1 + 7 1486 c.1125G>C c.(1123-1125)tcG>tcC p.S375S NAV2_ENST00000396087.3_Silent_p.S398S|NAV2_ENST00000349880.4_Silent_p.S375S|NAV2_ENST00000540292.1_Silent_p.S329S|NAV2_ENST00000360655.4_Silent_p.S311S|NAV2_ENST00000527559.2_Silent_p.S327S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 398 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCATGCTCTCGGTCAAGCCTC 0.612000 11 142 0 0 0.00136819 0 0 UBAP2 55833 broad.mit.edu 37 9 33923984 33923984 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:33923984A>C ENST00000379238.1 - 24 2722 c.2605T>G c.(2605-2607)Ttt>Gtt p.F869V UBAP2_ENST00000379239.4_Missense_Mutation_p.F602V|UBAP2_ENST00000449054.1_Missense_Mutation_p.F869V|UBAP2_ENST00000360802.1_Missense_Mutation_p.F869V|UBAP2_ENST00000379235.1_Missense_Mutation_p.F108V|UBAP2_ENST00000539807.1_Missense_Mutation_p.F624V Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 869 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CCACGGCCAAACTTTGTGACA 0.587000 8 82 0 0 0.000274275 0 0 KRTAP5-AS1 338651 broad.mit.edu 37 11 1619527 1619527 + RNA SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:1619527G>A ENST00000424148.1 + 0 1378 NR_021489.1 CAGGTGAGAGGGAGGTGCAGG 0.582000 31 111 0 0 0.000692331 0 0 TSSK4 283629 broad.mit.edu 37 14 24676565 24676565 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:24676565C>A ENST00000339917.5 + 3 888 c.684C>A c.(682-684)ttC>ttA p.F228L TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Missense_Mutation_p.F218L|TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.F142L|TM9SF1_ENST00000556387.1_Intron NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 218 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) ACAACCCTTTCCTGTCTGACA 0.522000 18 70 1.33834e-09 1.05266e-08 0.000958276 1 0 ACTL9 284382 broad.mit.edu 37 19 8808746 8808746 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:8808746G>T ENST00000324436.3 - 1 426 c.306C>A c.(304-306)gcC>gcA p.A102A NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 102 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GGAGCACGCGGGCTGCCTCGC 0.701000 5 9 5.9392e-07 4.34057e-06 0.00116845 1 0 TRPA1 8989 broad.mit.edu 37 8 72936135 72936135 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:72936135A>C ENST00000262209.4 - 26 3270 c.3063T>G c.(3061-3063)tgT>tgG p.C1021W RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1021 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AAAATAAAAAACAGAATATAT 0.308000 6 97 0 0 0.000274275 0 0 EBF1 1879 broad.mit.edu 37 5 158158077 158158077 + Splice_Site SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:158158077C>A ENST00000313708.6 - 11 1407 c.1125_splice c.e11+1 p.K375_splice EBF1_ENST00000380654.4_Splice_Site_p.K344_splice|EBF1_ENST00000517373.1_Splice_Site_p.K367_splice|EBF1_ENST00000518836.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 375 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTATCCTCACCTTTGGCAAAC 0.443000 T HMGA2 lipoma 11 26 4.3838e-07 3.21723e-06 0.00185496 1 0 IGHG2 3501 broad.mit.edu 37 14 106109816 106109816 + RNA SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:106109816C>G ENST00000390545.2 - 0 704 TGGTCATCTCCTCCCGGGATG 0.637000 21 190 0 0 0.00106085 0 0 F2R 2149 broad.mit.edu 37 5 76028264 76028264 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:76028264G>T ENST00000319211.4 + 2 479 c.214G>T c.(214-216)Gtc>Ttc p.V72F NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 72 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) ATACAGATTAGTCTCCATCAA 0.418000 17 113 6.94344e-10 5.51077e-09 0.00074312 1 0 PTK2B 2185 broad.mit.edu 37 8 27311715 27311715 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:27311715G>T ENST00000397501.1 + 34 3448 c.2640G>T c.(2638-2640)gtG>gtT p.V880V PTK2B_ENST00000544172.1_Silent_p.V880V|PTK2B_ENST00000420218.2_Silent_p.V838V|PTK2B_ENST00000517339.1_Silent_p.V838V|PTK2B_ENST00000338238.4_Silent_p.V838V|PTK2B_ENST00000346049.5_Silent_p.V880V NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 880 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) ATGACCTGGTGTACCTCAATG 0.617000 28 65 2.81731e-10 2.28776e-09 0.000339439 1 0 DSEL 92126 broad.mit.edu 37 18 65180364 65180364 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr18:65180364C>A ENST00000310045.7 - 2 2985 c.1512G>T c.(1510-1512)ttG>ttT p.L504F CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 494 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TAAGGTGGCTCAACTTGGGTC 0.458000 26 44 1.75199e-13 1.57589e-12 0.00127121 1 0 MYOM2 9172 broad.mit.edu 37 8 2092778 2092778 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:2092778A>G ENST00000262113.4 + 37 4412 c.4271A>G c.(4270-4272)tAt>tGt p.Y1424C MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.Y849C NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1424 Ig-like C2-type 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAGAATAAGTATGGCGGGGAG 0.572000 14 83 0 0 0.000422831 0 0 KCNH6 81033 broad.mit.edu 37 17 61613174 61613174 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:61613174G>A ENST00000583023.1 + 6 1257 c.1246G>A c.(1246-1248)Gcc>Acc p.A416T KCNH6_ENST00000581784.1_Missense_Mutation_p.A416T|KCNH6_ENST00000580652.1_Missense_Mutation_p.A416T|KCNH6_ENST00000314672.5_Missense_Mutation_p.A416T|KCNH6_ENST00000456941.2_Missense_Mutation_p.A416T NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 416 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCACTGGCTGGCCTGCATCTG 0.612000 27 41 0 0 0.000491102 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864324 6864324 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:6864324G>T ENST00000307659.5 + 7 2670 c.2215G>T c.(2215-2217)Gcc>Tcc p.A739S KIAA0232_ENST00000425103.1_Missense_Mutation_p.A739S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 739 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 ACAGTTTAATGCCGAAGATAT 0.343000 21 35 3.6726e-16 3.44478e-15 0.000586117 1 0 LGR5 8549 broad.mit.edu 37 12 71977778 71977778 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:71977778G>C ENST00000266674.5 + 18 2299 c.1988G>C c.(1987-1989)gGg>gCg p.G663A LGR5_ENST00000536515.1_Missense_Mutation_p.G591A|LGR5_ENST00000540815.2_Missense_Mutation_p.G639A O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 663 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTGGAGCGTGGGTTCTCTGTG 0.458000 20 95 0 0 0.00152264 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687802 27687802 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:27687802A>T ENST00000438700.3 - 4 1842 c.1725T>A c.(1723-1725)gaT>gaA p.D575E NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 575 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TTCCATGTTCATCTGGGACAG 0.388000 12 42 0 0 0.00136819 0 0 FRMD1 79981 broad.mit.edu 37 6 168479735 168479735 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:168479735G>T ENST00000283309.6 - 1 104 c.40C>A c.(40-42)Cgg>Agg p.R14R NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 14 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGGTTTGTCCGGGCGGGGTCT 0.662000 5 17 1.76689e-08 1.33583e-07 0.000442599 1 0 GRM4 2914 broad.mit.edu 37 6 34101066 34101066 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:34101066G>T ENST00000374181.3 - 1 377 c.208C>A c.(208-210)Ctt>Att p.L70I GRM4_ENST00000538487.1_Missense_Mutation_p.L70I|GRM4_ENST00000374177.3_Intron NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 70 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TCCTTCTTAAGTTCTCCACAG 0.607000 10 15 3.86212e-05 0.000274257 0.000673444 1 0 ZRSR1 7310 broad.mit.edu 37 5 112228179 112228179 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:112228179G>A ENST00000391338.1 + 1 867 c.843G>A c.(841-843)tcG>tcA p.S281S REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000474542.2_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 AGTACCAGTCGGAAGAAGAAT 0.498000 9 176 0 0 0.00136819 0 0 GRAMD4 23151 broad.mit.edu 37 22 47069608 47069608 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr22:47069608G>A ENST00000406902.1 + 15 1494 c.1281G>A c.(1279-1281)ccG>ccA p.P427P GRAMD4_ENST00000361034.3_Silent_p.P427P Q6IC98 GRAM4_HUMAN GRAM domain containing 4 427 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCAGCGCACCGGCCGGCCTGG 0.627000 9 102 0 0 0.000274275 0 0 NOD2 64127 broad.mit.edu 37 16 50759412 50759412 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:50759412C>A ENST00000300589.2 + 10 3000 c.2895C>A c.(2893-2895)aaC>aaA p.N965K NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 965 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TGGAGGAGAACCATCTCCAGG 0.423000 10 63 0.00136819 0.00926569 0.00136819 1 0 FAM151A 338094 broad.mit.edu 37 1 55075139 55075139 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:55075139G>T ENST00000302250.2 - 8 1720 c.1560C>A c.(1558-1560)agC>agA p.S520R ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S333R NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 520 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTCCAGCTGTGCTGTGGCCCA 0.627000 16 70 1.00905e-13 9.1703e-13 0.00121646 1 0 KCNA4 3739 broad.mit.edu 37 11 30032722 30032722 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:30032722C>T ENST00000328224.6 - 2 2737 c.1504G>A c.(1504-1506)Gat>Aat p.D502N NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 502 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GTAGGTTCATCCGCCTCTGCA 0.517000 9 49 0 0 0.000442599 0 0 LPHN2 23266 broad.mit.edu 37 1 82409266 82409266 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:82409266G>T ENST00000370728.1 + 8 1656 c.1011G>T c.(1009-1011)aaG>aaT p.K337N LPHN2_ENST00000370723.1_Missense_Mutation_p.K337N|LPHN2_ENST00000319517.6_Missense_Mutation_p.K337N|LPHN2_ENST00000370730.1_Missense_Mutation_p.K337N|LPHN2_ENST00000370725.1_Missense_Mutation_p.K337N|LPHN2_ENST00000394879.1_Missense_Mutation_p.K337N|LPHN2_ENST00000370717.2_Missense_Mutation_p.K337N|LPHN2_ENST00000370715.1_Missense_Mutation_p.K337N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.K341N|LPHN2_ENST00000359929.3_Missense_Mutation_p.K337N|LPHN2_ENST00000271029.4_Missense_Mutation_p.K337N|LPHN2_ENST00000370713.1_Missense_Mutation_p.K337N|LPHN2_ENST00000335786.5_Missense_Mutation_p.K337N|LPHN2_ENST00000370727.1_Missense_Mutation_p.K337N O95490 LPHN2_HUMAN latrophilin 2 337 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAACAGGCAAGAACTCAATTG 0.393000 30 132 2.42023e-17 2.33247e-16 0.00058488 1 0 SLCO5A1 81796 broad.mit.edu 37 8 70594561 70594561 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:70594561G>T ENST00000260126.3 - 7 2346 c.1640C>A c.(1639-1641)cCc>cAc p.P547H SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P492H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P547H NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 547 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) ATTCCTATGGGGCATGGTGAG 0.393000 19 110 9.86323e-18 9.66486e-17 0.000586117 1 0 ZNF582 147948 broad.mit.edu 37 19 56895292 56895292 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:56895292T>A ENST00000301310.4 - 5 1652 c.1494A>T c.(1492-1494)agA>agT p.R498S ZNF582_ENST00000586929.1_Missense_Mutation_p.R498S NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ACATAAATTCTCTGATGATTA 0.393000 13 103 0 0 0.000308642 0 0 CAGE1 285782 broad.mit.edu 37 6 7370188 7370188 + Silent SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:7370188A>G ENST00000502583.1 - 6 2421 c.1857T>C c.(1855-1857)agT>agC p.S619S CAGE1_ENST00000379918.4_Silent_p.S619S|CAGE1_ENST00000512086.1_Silent_p.S619S|CAGE1_ENST00000296742.7_Silent_p.S483S|CAGE1_ENST00000338150.4_Silent_p.S619S NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 619 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GAGCCAGAAGACTGTGCATTT 0.428000 8 14 0 0 0.000978159 0 0 COL14A1 7373 broad.mit.edu 37 8 121170434 121170434 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:121170434G>C ENST00000297848.3 + 3 424 c.154G>C c.(154-156)Gct>Cct p.A52P COL14A1_ENST00000309791.4_Missense_Mutation_p.A52P|COL14A1_ENST00000537875.1_Missense_Mutation_p.A52P|COL14A1_ENST00000247781.3_Missense_Mutation_p.A52P|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 52 Fibronectin type-III 1. 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) TTCATGGAAGGCTCCAAGAGG 0.358000 8 55 0 0 0.000157383 0 0 SMPD3 55512 broad.mit.edu 37 16 68397446 68397446 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:68397446C>T ENST00000219334.5 - 7 2265 c.1662G>A c.(1660-1662)acG>acA p.T554T SMPD3_ENST00000568373.1_Silent_p.T554T|SMPD3_ENST00000563226.1_Silent_p.T546T NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 554 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) ACAGGCCGTTCGTGTCCAGCA 0.657000 6 62 0 0 0.000157383 0 0 KCNH8 131096 broad.mit.edu 37 3 19491633 19491633 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:19491633G>T ENST00000328405.2 + 9 1677 c.1411G>T c.(1411-1413)Gca>Tca p.A471S KCNH8_ENST00000537696.1_Missense_Mutation_p.A140S NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 471 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AAACGTGACAGCAATCATACA 0.438000 19 32 5.35356e-11 4.4715e-10 0.000375601 1 0 PLXDC2 84898 broad.mit.edu 37 10 20357100 20357100 + Splice_Site SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:20357100G>T ENST00000377252.3 + 4 1314 c.471_splice c.e4-1 p.R158_splice PLXDC2_ENST00000377242.3_Splice_Site_p.R109_splice|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 158 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCTTTGCAGAGAGTGAATCTG 0.383000 12 44 4.14922e-12 3.58509e-11 0.000422831 1 0 NEBL 10529 broad.mit.edu 37 10 21461326 21461326 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:21461326C>T ENST00000417816.2 - 2 503 c.150G>A c.(148-150)aaG>aaA p.K50K NEBL_ENST00000464278.1_5'UTR NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette 712 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TACAATAGGGCTTCTTTTCAT 0.433000 10 35 0 0 0.000978159 0 0 REG3A 5068 broad.mit.edu 37 2 79384822 79384822 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:79384822G>A ENST00000393878.1 - 4 590 c.336C>T c.(334-336)ggC>ggT p.G112G REG3A_ENST00000409839.3_Silent_p.G112G|REG3A_ENST00000305165.2_Silent_p.G112G NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 112 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 TGGGCTCGGTGCCCTGTAGAG 0.542000 30 49 0 0 0.00111076 0 0 UGT2B15 7366 broad.mit.edu 37 4 69512953 69512953 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:69512953G>T ENST00000338206.5 - 6 1471 c.1462C>A c.(1462-1464)Cag>Aag p.Q488K NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 488 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GAGTGGTACTGGATCCAGGTG 0.488000 23 106 1.66031e-10 1.3545e-09 0.000586117 1 0 TOM1 10043 broad.mit.edu 37 22 35742927 35742927 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr22:35742927A>G ENST00000411850.1 + 14 1414 c.1289A>G c.(1288-1290)aAt>aGt p.N430S TOM1_ENST00000425375.1_Missense_Mutation_p.N385S|TOM1_ENST00000449058.2_Missense_Mutation_p.N430S|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000436462.2_Missense_Mutation_p.N392S|TOM1_ENST00000447733.1_Missense_Mutation_p.N397S NM_001135732.1 NP_001129204.1 O60784 TOM1_HUMAN target of myb1 (chicken) 430 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 TCCCAGGGTAATGATGCGGAA 0.662000 50 55 0 0 0.000781405 0 0 CDH10 1008 broad.mit.edu 37 5 24487802 24487802 + Silent SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:24487802A>G ENST00000264463.4 - 12 2844 c.2337T>C c.(2335-2337)taT>taC p.Y779Y CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 779 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCCCACCACCATACATTTCTG 0.408000 HNSCC(23;0.051) 6 190 0 0 8.12818e-05 0 0 PRKG2 5593 broad.mit.edu 37 4 82125782 82125782 + Silent SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:82125782A>T ENST00000395578.1 - 2 536 c.420T>A c.(418-420)ccT>ccA p.P140P PRKG2_ENST00000264399.1_Silent_p.P140P|PRKG2_ENST00000418486.2_Silent_p.P140P Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 140 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AGGAAAATTCAGGGGGTTTGT 0.468000 111 251 0 0 0.000781405 0 0 TUBA1C 84790 broad.mit.edu 37 12 49663442 49663442 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:49663442G>T ENST00000301072.6 + 2 473 c.198G>T c.(196-198)gtG>gtT p.V66V TUBA1C_ENST00000541364.1_Silent_p.V136V|TUBA1C_ENST00000549183.1_Silent_p.V66V|RP11-161H23.5_ENST00000550468.2_RNA NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 66 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 CCCGGGCAGTGTTTGTAGACT 0.562000 31 116 1.82762e-36 2.00352e-35 0.00128727 1 0 CABIN1 23523 broad.mit.edu 37 22 24574118 24574118 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr22:24574118C>T ENST00000398319.2 + 37 7002 c.6617C>T c.(6616-6618)tCg>tTg p.S2206L CABIN1_ENST00000405822.2_Missense_Mutation_p.S2127L|CABIN1_ENST00000337989.7_Missense_Mutation_p.S576L|CABIN1_ENST00000263119.5_Missense_Mutation_p.S2206L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2206 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CAGGAGTCCTCGCTGGAGAGC 0.637000 13 53 0 0 0.000308642 0 0 CNTN3 5067 broad.mit.edu 37 3 74347306 74347306 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:74347306C>G ENST00000263665.6 - 17 2230 c.2203G>C c.(2203-2205)Ggg>Cgg p.G735R NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 735 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACAACATACCCAAAACCTTCA 0.458000 17 23 0 0 0.00152264 0 0 SLC5A1 6523 broad.mit.edu 37 22 32500780 32500780 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr22:32500780G>A ENST00000266088.4 + 14 1923 c.1673G>A c.(1672-1674)cGt>cAt p.R558H SLC5A1_ENST00000543737.1_Missense_Mutation_p.R431H NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 558 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CAGCTCTACCGTCTGTGTTGG 0.502000 11 54 0 0 0.00136819 0 0 NYAP2 57624 broad.mit.edu 37 2 226447663 226447663 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:226447663G>A ENST00000272907.6 + 4 1943 c.1530G>A c.(1528-1530)ccG>ccA p.P510P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 510 CCACGAGCCCGCTGGAGGAGC 0.682000 4 22 0 0 0.00024832 0 0 WDR96 80217 broad.mit.edu 37 10 105903272 105903272 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr10:105903272T>C ENST00000357060.3 - 32 4185 c.4070A>G c.(4069-4071)aAt>aGt p.N1357S WDR96_ENST00000428666.1_Missense_Mutation_p.N1329S NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1357 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTTACTAATATTGTCCAACTC 0.418000 4 82 0 0 0.000602214 0 0 KDM4D 55693 broad.mit.edu 37 11 94730894 94730894 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:94730894G>T ENST00000335080.5 + 3 1190 c.358G>T c.(358-360)Gat>Tat p.D120Y KDM4D_ENST00000536741.1_Missense_Mutation_p.D120Y NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 120 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GAATTTCGAAGATTTGGAGCG 0.393000 40 203 1.00776e-21 1.04592e-20 0.000781405 1 0 SLC25A52 147407 broad.mit.edu 37 18 29340057 29340057 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr18:29340057A>C ENST00000269205.5 - 1 786 c.598T>G c.(598-600)Ttt>Gtt p.F200V SLC25A52_ENST00000579441.2_Missense_Mutation_p.F190V NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 190 transport integral to membrane|mitochondrial inner membrane AGGCCGAAAAACAAGACATTG 0.473000 7 70 0 0 0.000978159 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139456 90139456 + RNA SNP T T G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:90139456T>G ENST00000492446.1 + 0 254 GCATCCAGTTTGCAAAGTGGG 0.507000 10 127 0 0 0.00185496 0 0 KCNA1 3736 broad.mit.edu 37 12 5021140 5021140 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:5021140C>G ENST00000382545.3 + 2 1703 c.596C>G c.(595-597)aCg>aGg p.T199R KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 199 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAGGACTTCACGGGCACCGTC 0.542000 8 49 0 0 0.000274275 0 0 MYO7A 4647 broad.mit.edu 37 11 76877182 76877182 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:76877182C>G ENST00000409709.3 + 15 2043 c.1771C>G c.(1771-1773)Cag>Gag p.Q591E MYO7A_ENST00000458637.2_Missense_Mutation_p.Q591E|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q580E|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q591E NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 591 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTTCATCAAGCAGATCTTCCA 0.587000 43 31 0 0 0.000781405 0 0 BTBD10 84280 broad.mit.edu 37 11 13443241 13443241 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:13443241C>G ENST00000278174.5 - 3 491 c.246G>C c.(244-246)caG>caC p.Q82H BTBD10_ENST00000530907.1_Missense_Mutation_p.Q90H|BTBD10_ENST00000528120.1_Missense_Mutation_p.Q34H|BTBD10_ENST00000532261.1_5'UTR NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 82 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) AAGGAGTGAGCTGAGACTCCG 0.418000 4 55 0 0 0.000602214 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485598 169485598 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:169485598G>T ENST00000330368.2 - 2 1115 c.741C>A c.(739-741)ctC>ctA p.L247L NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 247 cytoplasm|cytoskeleton GCTGGTCATGGAGCTGGATGA 0.463000 23 75 6.44725e-10 5.16369e-09 0.000295444 1 0 NAV1 89796 broad.mit.edu 37 1 201779821 201779821 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:201779821C>A ENST00000367296.4 + 24 5152 c.4732C>A c.(4732-4734)Cgc>Agc p.R1578S NAV1_ENST00000367302.1_Missense_Mutation_p.R1531S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R1570S|NAV1_ENST00000295624.6_Missense_Mutation_p.R1575S|NAV1_ENST00000367300.3_Missense_Mutation_p.R1518S|NAV1_ENST00000367295.1_Missense_Mutation_p.R1184S NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1578 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCTGGTGGAGCGCTCTGGCCG 0.642000 8 65 0.000978159 0.00664996 0.000978159 1 0 C2orf71 388939 broad.mit.edu 37 2 29296593 29296593 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:29296593G>C ENST00000331664.5 - 1 534 c.535C>G c.(535-537)Cct>Gct p.P179A NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 179 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTTACCAGAGGCTCCGGGAAG 0.532000 11 41 0 0 0.00136819 0 0 ACAN 176 broad.mit.edu 37 15 89401784 89401784 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:89401784G>T ENST00000439576.2 + 12 6342 c.5968G>T c.(5968-5970)Ggg>Tgg p.G1990W ACAN_ENST00000561243.1_Missense_Mutation_p.G1990W|ACAN_ENST00000352105.7_Missense_Mutation_p.G1990W|ACAN_ENST00000559004.1_Missense_Mutation_p.G1990W NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1990 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCTGCAGTCCGGGCTGATAGA 0.532000 27 37 8.73648e-17 8.32814e-16 0.000814825 1 0 CKM 1158 broad.mit.edu 37 19 45810857 45810857 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:45810857G>A ENST00000221476.3 - 7 1003 c.829C>T c.(829-831)Ctg>Ttg p.L277L NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 277 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) ACGTAGCCCAGGTGCTGGTTC 0.612000 6 29 0 0 0.00116845 0 0 PCLO 27445 broad.mit.edu 37 7 82390736 82390736 + Silent SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:82390736T>A ENST00000333891.8 - 23 15418 c.15081A>T c.(15079-15081)atA>atT p.I5027I NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4950 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAATTTCAACTATTAGTTGTT 0.303000 4 9 0 0 0.00024832 0 0 MYH2 4620 broad.mit.edu 37 17 10429057 10429057 + Missense_Mutation SNP T T G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:10429057T>G ENST00000245503.5 - 31 4708 c.4324A>C c.(4324-4326)Aat>Cat p.N1442H MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.N1442H|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1442 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAGGCGGCATTTGTCCTCTCC 0.488000 5 113 0 0 0.000157383 0 0 ZIC4 84107 broad.mit.edu 37 3 147120593 147120593 + Translation_Start_Site SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:147120593T>A ENST00000383075.3 - 0 504 ZIC4_ENST00000484399.1_De_novo_Start_OutOfFrame|ZIC4_ENST00000491672.1_De_novo_Start_OutOfFrame|ZIC4_ENST00000525172.2_Missense_Mutation_p.S48C|ZIC4_ENST00000425731.3_Missense_Mutation_p.S36C|ZIC4_ENST00000473123.1_De_novo_Start_OutOfFrame NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 ATTTTCTGACTTTGAGCCTGT 0.383000 69 67 0 0 0.000781405 0 0 C16orf89 146556 broad.mit.edu 37 16 5115926 5115926 + Translation_Start_Site SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:5115926C>T ENST00000315997.5 - 0 185 C16orf89_ENST00000350219.4_Missense_Mutation_p.S33N|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_De_novo_Start_OutOfFrame|C16orf89_ENST00000474471.3_De_novo_Start_OutOfFrame|C16orf89_ENST00000422873.1_Missense_Mutation_p.S33N NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 CCTCTGCTCACTGCTGGTCAC 0.657000 3 7 0 0 6.4e-05 0 0 ZNF718 255403 broad.mit.edu 37 4 155785 155785 + RNA SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:155785A>T ENST00000510175.1 + 0 1220 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CAGTCCTCACACTTGAATAAA 0.348000 10 11 0 0 0.000673444 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563087 140563087 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:140563087G>C ENST00000361016.2 + 1 2108 c.953G>C c.(952-954)cGc>cCc p.R318P NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 318 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TATGAAGTGCGCATCAAAGCC 0.473000 10 68 0 0 0.000442599 0 0 SND1 27044 broad.mit.edu 37 7 127342493 127342493 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:127342493C>G ENST00000354725.3 + 6 788 c.594C>G c.(592-594)atC>atG p.I198M NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 198 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 ACACAGCTATCATCGAGCATG 0.488000 11 115 0 0 0.00185496 0 0 MROH5 389690 broad.mit.edu 37 8 142490535 142490535 + RNA SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:142490535G>T ENST00000430863.1 - 0 844 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GAACGGGACTGACTTGATGGC 0.632000 11 45 1.5739e-10 1.29001e-09 0.000422831 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33577018 33577018 + Missense_Mutation SNP G G T rs147729472 TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:33577018G>T ENST00000504830.1 - 19 3448 c.3113C>A c.(3112-3114)cCt>cAt p.P1038H ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P953H NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1038 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CATAGACTCAGGCCCTGTGGG 0.532000 HNSCC(64;0.19) 11 59 2.68362e-12 2.33023e-11 0.00136819 1 0 KRT74 121391 broad.mit.edu 37 12 52962104 52962104 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:52962104C>T ENST00000549343.1 - 8 1284 c.1246G>A c.(1246-1248)Gcc>Acc p.A416T KRT74_ENST00000305620.2_Missense_Mutation_p.A402T Q7RTS7 K2C74_HUMAN keratin 74 402 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) TCCAGCTTGGCCTGGGCATCC 0.637000 18 45 0 0 0.000295444 0 0 MUC16 94025 broad.mit.edu 37 19 9046316 9046316 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:9046316G>T ENST00000397910.4 - 5 35518 c.35315C>A c.(35314-35316)gCc>gAc p.A11772D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11774 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 GCTCAATAAGGCTGTGGTCTC 0.473000 12 22 0.00010058 0.000702857 0.00136819 1 0 IL17A 3605 broad.mit.edu 37 6 52053914 52053914 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:52053914G>T ENST00000340057.1 + 3 337 c.292G>T c.(292-294)Ggc>Tgc p.G98C NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 98 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CCGCCACTTGGGCTGCATCAA 0.562000 18 24 1.78486e-19 1.79922e-18 0.000958276 1 0 TRMT5 57570 broad.mit.edu 37 14 61446565 61446565 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:61446565C>T ENST00000261249.6 - 2 435 c.51G>A c.(49-51)ctG>ctA p.L17L RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 17 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TTTCCAGTTTCAGAAATCTTC 0.348000 12 77 0 0 0.000219431 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38173510 38173510 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:38173510C>T ENST00000317025.8 - 10 2423 c.1906G>A c.(1906-1908)Gcc>Acc p.A636T WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A636T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A636T NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 636 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TCAGTTGAGGCGCGACTCCTT 0.408000 T NUP98 AML 18 90 0 0 0.00152264 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146308 70146308 + Silent SNP C C A rs150706540 byFrequency TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:70146308C>A ENST00000335568.5 + 1 92 c.90C>A c.(88-90)acC>acA p.T30T UGT2B28_ENST00000511240.1_Silent_p.T30T NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 30 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TGGTGTGGACCGGTGAATACA 0.463000 36 215 2.75727e-19 2.74787e-18 0.000953801 1 0 MYH1 4619 broad.mit.edu 37 17 10404775 10404775 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:10404775C>A ENST00000226207.5 - 27 3484 c.3390G>T c.(3388-3390)cgG>cgT p.R1130R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1130 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCCGGGAGGCCCGCTCTGCCT 0.572000 33 39 4.62619e-21 4.74523e-20 0.000814825 1 0 WNK2 65268 broad.mit.edu 37 9 96021231 96021231 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:96021231G>A ENST00000297954.4 + 11 2401 c.2401G>A c.(2401-2403)Gtg>Atg p.V801M WNK2_ENST00000395477.2_Missense_Mutation_p.V801M|WNK2_ENST00000427277.2_Missense_Mutation_p.V413M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V413M|WNK2_ENST00000395475.2_Missense_Mutation_p.V735M Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 801 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GATTCCTGTTGTGCCCCCCAT 0.647000 12 47 0 0 0.00185496 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 77 0 0 0.000602214 0 0 MAP1B 4131 broad.mit.edu 37 5 71494034 71494034 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:71494034T>C ENST00000296755.7 + 5 5150 c.4852T>C c.(4852-4854)Tca>Cca p.S1618P NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1618 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCGATGTCAATTTCTCC 0.438000 13 81 0 0 0.00074312 0 0 PALLD 23022 broad.mit.edu 37 4 169602547 169602547 + Silent SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:169602547A>G ENST00000335742.7 + 4 1363 c.6A>G c.(4-6)ccA>ccG p.P2P PALLD_ENST00000505667.1_Silent_p.P384P|PALLD_ENST00000261509.6_Silent_p.P384P|PALLD_ENST00000512127.1_Silent_p.P2P|PALLD_ENST00000333488.4_Silent_p.P261P Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 384 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAGCTATGCCACAGTAAGTGC 0.383000 Pancreatic Cancer, Familial Clustering of 23 70 0 0 0.000586117 0 0 KATNB1 10300 broad.mit.edu 37 16 57778336 57778336 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:57778336A>G ENST00000379661.3 + 4 594 c.202A>G c.(202-204)Agc>Ggc p.S68G NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 68 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CCCAGTGGAGAGCGTCCGCCT 0.637000 6 44 0 0 0.00116845 0 0 LRRC49 54839 broad.mit.edu 37 15 71229102 71229102 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:71229102A>T ENST00000260382.5 + 8 974 c.714A>T c.(712-714)agA>agT p.R238S LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R228S|LRRC49_ENST00000443425.2_Missense_Mutation_p.R194S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R243S|LRRC49_ENST00000560158.2_5'UTR NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 238 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TCTTCCAGAGAGATGTGGATA 0.303000 10 43 0 0 0.000673444 0 0 TOR1B 27348 broad.mit.edu 37 9 132566479 132566479 + Silent SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:132566479C>G ENST00000259339.2 + 2 387 c.327C>G c.(325-327)ggC>ggG p.G109G TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 109 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) CCTTACACGGCTGGGCTGGCA 0.463000 5 52 0 0 0.00116845 0 0 PCNX 22990 broad.mit.edu 37 14 71556018 71556018 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:71556018G>A ENST00000304743.2 + 30 5994 c.5548G>A c.(5548-5550)Gta>Ata p.V1850I PCNX_ENST00000439984.3_Missense_Mutation_p.V1739I|PCNX_ENST00000238570.5_Missense_Mutation_p.V1778I NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1850 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GCTAAGAAAAGTAGTAGTCCC 0.373000 16 76 0 0 0.000566183 0 0 LRP1B 53353 broad.mit.edu 37 2 141946128 141946128 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:141946128C>A ENST00000389484.3 - 7 1846 c.875G>T c.(874-876)tGg>tTg p.W292L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 292 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) TCGAGTGAGCCAGTCAATCGC 0.398000 TSP Lung(27;0.18) 9 40 0.00010058 0.000702857 0.00136819 1 0 SPTBN4 57731 broad.mit.edu 37 19 41009787 41009787 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:41009787C>T ENST00000352632.3 + 12 1499 c.1413C>T c.(1411-1413)caC>caT p.H471H SPTBN4_ENST00000595535.1_Silent_p.H471H|SPTBN4_ENST00000344104.3_Silent_p.H471H|SPTBN4_ENST00000598249.1_Silent_p.H471H|SPTBN4_ENST00000338932.3_Silent_p.H471H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 471 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAAGAAACACGAAGCGATCG 0.622000 5 31 0 0 8.12818e-05 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186235 50186235 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:50186235G>A ENST00000335999.6 - 12 3987 c.3786C>T c.(3784-3786)acC>acT p.T1262T NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1258 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 TCACCATGGGGGTCCTGGGCA 0.607000 3 12 0 0 6.4e-05 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988740 154988740 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:154988740G>T ENST00000368426.3 + 4 1336 c.1199G>T c.(1198-1200)cGc>cTc p.R400L ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R400L|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R400L|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R434L NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 400 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACGGGAGAGCGCCCCTACTCA 0.637000 18 104 8.28177e-16 7.68583e-15 0.000958276 1 0 ATP6AP1 537 broad.mit.edu 37 X 153664066 153664066 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:153664066C>T ENST00000369762.2 + 10 1303 c.1242C>T c.(1240-1242)taC>taT p.Y414Y NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 414 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGTTCTCCTACGCCAGCGACT 0.577000 9 112 0 0 0.000442599 0 0 FNDC8 54752 broad.mit.edu 37 17 33454312 33454312 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:33454312T>A ENST00000158009.5 + 2 576 c.461T>A c.(460-462)cTg>cAg p.L154Q NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 154 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) AGGGGCCTGCTGGACCTTGAC 0.582000 46 62 0 0 0.000781405 0 0 KIF17 57576 broad.mit.edu 37 1 21009225 21009225 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:21009225C>A ENST00000247986.2 - 11 2694 c.2384G>T c.(2383-2385)tGg>tTg p.W795L KIF17_ENST00000375044.1_Missense_Mutation_p.W695L|KIF17_ENST00000400463.3_Missense_Mutation_p.W795L|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 795 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) AAGCAGCACCCAGTCCCCGCT 0.622000 12 38 2.61681e-11 2.21734e-10 0.000219431 1 0 UGGT1 56886 broad.mit.edu 37 2 128861574 128861574 + Nonsense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:128861574C>A ENST00000375990.3 + 3 594 c.191C>A c.(190-192)tCa>tAa p.S64* UGGT1_ENST00000259253.6_Nonsense_Mutation_p.S88* Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 88 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AATATTGGATCATCAGATCAT 0.338000 16 75 7.45023e-12 6.37449e-11 0.00152264 1 0 P2RY8 286530 broad.mit.edu 37 X 1584494 1584494 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:1584494T>A ENST00000381297.4 - 2 1168 c.958A>T c.(958-960)Acg>Tcg p.T320S NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 320 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCGCGGCGCGTGTCCAGGGTG 0.667000 T CRLF2 """B-ALL, Downs associated ALL""" 8 51 0 0 0.000442599 0 0 ZFP2 80108 broad.mit.edu 37 5 178359519 178359519 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:178359519G>C ENST00000361362.2 + 5 1735 c.1205G>C c.(1204-1206)aGa>aCa p.R402T ZFP2_ENST00000523286.1_Missense_Mutation_p.R402T|ZFP2_ENST00000503510.2_Missense_Mutation_p.R402T|ZFP2_ENST00000520301.1_Missense_Mutation_p.R402T NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAACATCAAAGAATTCATACT 0.418000 6 49 0 0 0.00116845 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755817 140755817 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:140755817C>A ENST00000517434.1 + 1 2167 c.2167C>A c.(2167-2169)Cgc>Agc p.R723S PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACAAGTCACGCCTGCTGCA 0.647000 27 59 4.72057e-08 3.53841e-07 0.000586117 1 0 NUBPL 80224 broad.mit.edu 37 14 32142771 32142771 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:32142771G>T ENST00000281081.7 + 6 549 c.504G>T c.(502-504)ttG>ttT p.L168F NUBPL_ENST00000536705.1_Missense_Mutation_p.L72F NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 168 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) TTGAGAAATTGTTGAGGCAGG 0.358000 10 58 6.40141e-05 0.000452745 0.000978159 1 0 DENND1A 57706 broad.mit.edu 37 9 126165745 126165745 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr9:126165745C>A ENST00000373624.2 - 20 1714 c.1513G>T c.(1513-1515)Gtt>Ttt p.V505F DENND1A_ENST00000542603.1_Missense_Mutation_p.V247F|DENND1A_ENST00000373620.3_Missense_Mutation_p.V505F|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.V475F|DENND1A_ENST00000394219.3_Missense_Mutation_p.V473F NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 505 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GGTCTCTTAACAACATGTGGA 0.542000 9 38 4.3838e-07 3.21723e-06 0.00185496 1 0 MXRA5 25878 broad.mit.edu 37 X 3235282 3235282 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:3235282C>A ENST00000217939.6 - 6 6594 c.6440G>T c.(6439-6441)cGc>cTc p.R2147L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2147 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCCGTGATGCGCGCGTTGGC 0.706000 10 5 4.3838e-07 3.21723e-06 0.00185496 1 0 RFFL 117584 broad.mit.edu 37 17 33348712 33348712 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:33348712C>A ENST00000315249.7 - 3 491 c.269G>T c.(268-270)cGg>cTg p.R90L RFFL_ENST00000447669.2_Missense_Mutation_p.R90L|RFFL_ENST00000415395.2_Missense_Mutation_p.R90L|RFFL_ENST00000413582.2_Missense_Mutation_p.R90L|RFFL_ENST00000394597.2_Missense_Mutation_p.R90L|RFFL_ENST00000378516.2_Missense_Mutation_p.R90L|RFFL_ENST00000268850.7_Missense_Mutation_p.R90L|RFFL_ENST00000584655.1_Missense_Mutation_p.R90L|RAD51L3-RFFL_ENST00000593039.1_Intron Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 90 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AGCTCGAAACCGTTGGCAGAG 0.512000 31 43 2.04263e-09 1.59235e-08 0.000814825 1 0 HOXB1 3211 broad.mit.edu 37 17 46607047 46607047 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:46607047C>A ENST00000239174.6 - 2 860 c.768G>T c.(766-768)atG>atT p.M256I HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 256 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCTTCTGCTTCATTCGTCGGT 0.597000 56 76 1.12612e-26 1.1971e-25 0.000781405 1 0 TENM2 57451 broad.mit.edu 37 5 167645264 167645264 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:167645264C>T ENST00000519204.1 + 22 4123 c.4005C>T c.(4003-4005)tgC>tgT p.C1335C TENM2_ENST00000520394.1_Silent_p.C1217C|TENM2_ENST00000545108.1_Silent_p.C1455C|TENM2_ENST00000403607.2_Silent_p.C1280C|TENM2_ENST00000518659.1_Silent_p.C1456C teneurin transmembrane protein 2 CCATGCACTGCCAAGTTCCTG 0.507000 89 153 0 0 0.000781405 0 0 BCL11A 53335 broad.mit.edu 37 2 60773316 60773316 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:60773316C>A ENST00000335712.6 - 2 402 c.175G>T c.(175-177)Gac>Tac p.D59Y BCL11A_ENST00000358510.4_Missense_Mutation_p.D59Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D59Y|BCL11A_ENST00000359629.5_Missense_Mutation_p.D59Y|BCL11A_ENST00000356842.4_Missense_Mutation_p.D59Y|BCL11A_ENST00000537768.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 59 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ATAAGAATGTCCCCCAATGGG 0.502000 T IGH@ B-CLL 19 43 5.03518e-11 4.2257e-10 0.000958276 1 0 MAG 4099 broad.mit.edu 37 19 35791158 35791158 + Missense_Mutation SNP T T G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:35791158T>G ENST00000361922.4 + 6 971 c.821T>G c.(820-822)aTg>aGg p.M274R MAG_ENST00000537831.2_Missense_Mutation_p.M249R|MAG_ENST00000392213.3_Missense_Mutation_p.M274R NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 274 Ig-like C2-type 2. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CTGACCTGGATGCGGGACGGG 0.687000 4 6 0 0 0.00024832 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62781405 62781405 + RNA SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:62781405C>T ENST00000582986.1 - 0 2445 NR_024386.1 CTGGTACTTGCGTCAGCGAGC 0.617000 14 15 0 0 0.00121646 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185797 127185797 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:127185797A>T ENST00000371124.3 - 1 585 c.389T>A c.(388-390)tTc>tAc p.F130Y NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 130 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AGGCACACTGAAGGTCTCAAA 0.512000 88 64 0 0 0.000781405 0 0 F9 2158 broad.mit.edu 37 X 138644049 138644049 + Missense_Mutation SNP G G C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:138644049G>C ENST00000218099.2 + 8 1212 c.1205G>C c.(1204-1206)gGa>gCa p.G402A F9_ENST00000394090.2_Missense_Mutation_p.G364A NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 402 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TTCCATGAAGGAGGTAGAGAT 0.453000 19 62 0 0 0.00121646 0 0 AGBL2 79841 broad.mit.edu 37 11 47711852 47711852 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:47711852G>A ENST00000525123.1 - 10 1692 c.1407C>T c.(1405-1407)tcC>tcT p.S469S AGBL2_ENST00000298861.4_Silent_p.S469S|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Silent_p.S469S|AGBL2_ENST00000528244.1_Silent_p.S431S NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 469 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TCATAACCCAGGAGCCATTAC 0.493000 27 68 0 0 0.000692331 0 0 TFPT 29844 broad.mit.edu 37 19 54611370 54611370 + Nonsense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:54611370G>A ENST00000391757.1 - 5 586 c.568C>T c.(568-570)Cag>Tag p.Q190* TFPT_ENST00000391759.1_Missense_Mutation_p.A202V|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.A193V P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 64 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CGCATTTCCTGCTCGGCGTCC 0.701000 T TCF3 pre-B ALL 17 61 0 0 0.00121646 0 0 PLK4 10733 broad.mit.edu 37 4 128804496 128804496 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:128804496A>G ENST00000270861.5 + 3 480 c.206A>G c.(205-207)cAt>cGt p.H69R PLK4_ENST00000513090.1_Intron|PLK4_ENST00000507249.1_Missense_Mutation_p.H69R|PLK4_ENST00000514379.1_Missense_Mutation_p.H28R|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Missense_Mutation_p.H69R NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 69 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 CAATTGAAACATCCTTCTATC 0.313000 5 29 0 0 0.000602214 0 0 THSD7A 221981 broad.mit.edu 37 7 11630198 11630198 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:11630198G>A ENST00000423059.3 - 4 1593 c.1342C>T c.(1342-1344)Cgc>Tgc p.R448C NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 448 TSP type-1 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGGTTGCCGCGCCTCTTGTCC 0.557000 HNSCC(18;0.044) 13 26 0 0 0.000219431 0 0 GLI1 2735 broad.mit.edu 37 12 57863310 57863310 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:57863310G>T ENST00000228682.2 + 11 1496 c.1405G>T c.(1405-1407)Ggc>Tgc p.G469C GLI1_ENST00000543426.1_Missense_Mutation_p.G341C|GLI1_ENST00000546141.1_Missense_Mutation_p.G428C NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 469 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) GGAAATGACTGGCAATGCAGG 0.602000 37 84 2.87052e-16 2.70693e-15 0.00111076 1 0 FRMD1 79981 broad.mit.edu 37 6 168479737 168479737 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:168479737G>T ENST00000283309.6 - 1 102 c.38C>A c.(37-39)gCc>gAc p.A13D NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 13 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GTTTGTCCGGGCGGGGTCTAT 0.662000 5 17 1.76689e-08 1.33583e-07 0.000442599 1 0 OR6B3 150681 broad.mit.edu 37 2 240984909 240984909 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:240984909G>A ENST00000319423.4 - 1 580 c.581C>T c.(580-582)aCt>aTt p.T194I NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) CAGCTCTGCAGTGGAGAAGTC 0.542000 4 51 0 0 0.000602214 0 0 ZZEF1 23140 broad.mit.edu 37 17 3981275 3981275 + Missense_Mutation SNP A A T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:3981275A>T ENST00000381638.2 - 19 3015 c.2891T>A c.(2890-2892)tTc>tAc p.F964Y ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 964 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GACGGACCAGAACAGGGAGAA 0.547000 6 43 0 0 0.000274275 0 0 DYNLRB1 83658 broad.mit.edu 37 20 33122512 33122512 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr20:33122512C>T ENST00000417166.2 + 3 193 c.160C>T c.(160-162)Cgg>Tgg p.R54W DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R106W|DYNLRB1_ENST00000357156.2_Missense_Mutation_p.R54W Q9NP97 DLRB1_HUMAN dynein, light chain, roadblock-type 1 54 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity p.R54W(1) endometrium(1)|large_intestine(1)|lung(1) 3 CCTGAAGGCACGGAGCACCGT 0.547000 7 69 0 0 8.12818e-05 0 0 MAGEA11 4110 broad.mit.edu 37 X 148796188 148796188 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:148796188C>A ENST00000355220.5 + 3 246 c.144C>A c.(142-144)gcC>gcA p.A48A MAGEA11_ENST00000333104.4_Silent_p.A19A NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 48 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CAGAAAGAGCCCCATATGGTC 0.547000 18 11 2.89027e-11 2.43727e-10 0.000295444 1 0 FAM120B 84498 broad.mit.edu 37 6 170627219 170627219 + Silent SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:170627219A>G ENST00000476287.1 + 2 849 c.741A>G c.(739-741)ttA>ttG p.L247L FAM120B_ENST00000540480.1_Silent_p.L259L|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.L270L NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 247 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) ACAAATGCTTATCGTCCTACA 0.443000 36 42 0 0 0.000781405 0 0 TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:7577058C>A ENST00000420246.2 - 8 1012 c.880G>T c.(880-882)Gag>Tag p.E294* TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 294 Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGAGGCTCCCCTTTCTTG 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 29 1.64293e-13 1.48542e-12 0.00047179 1 0 STK3 6788 broad.mit.edu 37 8 99591989 99591989 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:99591989A>C ENST00000523601.1 - 10 1334 c.935T>G c.(934-936)gTa>gGa p.V312G STK3_ENST00000419617.2_Missense_Mutation_p.V284G NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 284 Poly-Glu. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) TAATATTGATACAGGTTTGGC 0.318000 18 30 0 0 0.000566183 0 0 CNTN5 53942 broad.mit.edu 37 11 100170004 100170004 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:100170004C>A ENST00000524871.1 + 20 2786 c.2496C>A c.(2494-2496)tcC>tcA p.S832S CNTN5_ENST00000279463.3_Silent_p.S832S|CNTN5_ENST00000528682.1_Silent_p.S832S|CNTN5_ENST00000418526.2_Silent_p.S758S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.S832S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 832 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTGAAGCTTCCAAATTCATTT 0.423000 4 30 0.000602214 0.00411005 0.000602214 1 0 MYO7A 4647 broad.mit.edu 37 11 76903146 76903146 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:76903146G>T ENST00000409709.3 + 31 4247 c.3975G>T c.(3973-3975)caG>caT p.Q1325H MYO7A_ENST00000458637.2_Missense_Mutation_p.Q1325H|MYO7A_ENST00000409619.2_Missense_Mutation_p.Q1314H NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1325 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCATCTCCCAGTGCGAGCAGT 0.662000 OREG0021258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 13 7.63091e-17 7.314e-16 0.00170553 1 0 CES1 1066 broad.mit.edu 37 16 55862829 55862829 + Missense_Mutation SNP T T G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:55862829T>G ENST00000422046.2 - 2 388 c.107A>C c.(106-108)aAg>aCg p.K36T CES1_ENST00000361503.4_Missense_Mutation_p.K36T|CES1_ENST00000360526.3_Missense_Mutation_p.K37T P23141 EST1_HUMAN carboxylesterase 1 36 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GCTGACGAACTTCCCCAGCAC 0.557000 6 25 0 0 0.000274275 0 0 FRMD1 79981 broad.mit.edu 37 6 168479736 168479736 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:168479736G>T ENST00000283309.6 - 1 103 c.39C>A c.(37-39)gcC>gcA p.A13A NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 13 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGTTTGTCCGGGCGGGGTCTA 0.662000 5 17 1.76689e-08 1.33583e-07 0.000442599 1 0 NEUROD4 58158 broad.mit.edu 37 12 55420935 55420935 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:55420935G>T ENST00000242994.3 + 2 1090 c.712G>T c.(712-714)Ggg>Tgg p.G238W NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 238 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 ATCGTCCTTTGGGAGCCATCT 0.532000 27 39 5.45727e-16 5.09152e-15 0.001512 1 0 CR2 1380 broad.mit.edu 37 1 207643305 207643305 + Missense_Mutation SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:207643305G>A ENST00000367057.3 + 6 1272 c.1083G>A c.(1081-1083)atG>atA p.M361I CR2_ENST00000458541.2_Missense_Mutation_p.M361I|CR2_ENST00000367059.3_Missense_Mutation_p.M361I|CR2_ENST00000367058.3_Missense_Mutation_p.M361I NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 361 Sushi 6. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GAGGCCGAATGGTATCTGGGC 0.498000 6 67 0 0 0.00116845 0 0 KCNB2 9312 broad.mit.edu 37 8 73480045 73480045 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:73480045G>T ENST00000523207.1 + 2 664 c.76G>T c.(76-78)Gac>Tac p.D26Y NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 26 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGAGCCTGTGGACATTATCCG 0.547000 17 96 6.94344e-10 5.51077e-09 0.00074312 1 0 EDAR 10913 broad.mit.edu 37 2 109546685 109546685 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:109546685C>A ENST00000409271.1 - 4 508 c.65G>T c.(64-66)tGc>tTc p.C22F EDAR_ENST00000376651.1_Missense_Mutation_p.C22F|EDAR_ENST00000258443.2_Missense_Mutation_p.C22F Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 22 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TCGGGCTGAGCACATCAGAGA 0.582000 11 42 2.80697e-09 2.17851e-08 0.000978159 1 0 TMEM63A 9725 broad.mit.edu 37 1 226065270 226065270 + Missense_Mutation SNP G G A rs147318694 TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:226065270G>A ENST00000366835.3 - 3 281 c.11C>T c.(10-12)tCc>tTc p.S4F NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 4 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CAGGAACGGGGAGTCCATCAT 0.592000 OREG0014291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 35 0 0 0.00116845 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033441 37033441 + Silent SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:37033441T>C ENST00000322716.5 - 1 1354 c.1128A>G c.(1126-1128)caA>caG p.Q376Q NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 376 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CACAAAGCCATTGTTTGTCTG 0.413000 93 98 0 0 0.000781405 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350395 51350395 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:51350395C>T ENST00000327536.5 - 3 661 c.562G>A c.(562-564)Gag>Aag p.E188K RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 188 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) ACCAGCTCCTCTTGGCTAAAC 0.478000 22 49 0 0 0.000295444 0 0 PLXNA4 91584 broad.mit.edu 37 7 131925833 131925833 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:131925833C>T ENST00000359827.3 - 5 2558 c.1596G>A c.(1594-1596)ctG>ctA p.L532L PLXNA4_ENST00000321063.4_Silent_p.L532L Q9HCM2 PLXA4_HUMAN plexin A4 532 PSI 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACGTGTTGTGCAGCACACACC 0.592000 11 34 0 0 0.000978159 0 0 ATP5B 506 broad.mit.edu 37 12 57033060 57033060 + Missense_Mutation SNP A A C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:57033060A>C ENST00000262030.3 - 9 1369 c.1319T>G c.(1318-1320)aTc>aGc p.I440S ATP5B_ENST00000552919.1_Missense_Mutation_p.I429S NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 440 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CATACCCAGGATGGCAATGAT 0.433000 6 60 0 0 8.12818e-05 0 0 OR5B3 441608 broad.mit.edu 37 11 58170414 58170414 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:58170414G>T ENST00000309403.2 - 1 468 c.469C>A c.(469-471)Cac>Aac p.H157N NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCCCCAGTGTGGATGGAGGCA 0.468000 21 63 1.50039e-11 1.27752e-10 0.00188189 1 0 LPCAT4 254531 broad.mit.edu 37 15 34651828 34651828 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:34651828T>A ENST00000314891.6 - 13 1538 c.1361A>T c.(1360-1362)gAg>gTg p.E454V NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 454 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CTGGCACAGCTCAGCATGCAA 0.622000 8 21 0 0 0.000673444 0 0 TBRG4 9238 broad.mit.edu 37 7 45143786 45143786 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:45143786C>A ENST00000258770.3 - 5 1098 c.977G>T c.(976-978)aGc>aTc p.S326I TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.S326I NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 326 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 AGAAGTCAGGCTGGGCATGAG 0.607000 16 35 4.7546e-09 3.65771e-08 0.000422831 1 0 AMPD1 270 broad.mit.edu 37 1 115229511 115229511 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:115229511C>G ENST00000369538.3 - 3 370 c.323G>C c.(322-324)cGg>cCg p.R108P AMPD1_ENST00000353928.6_Missense_Mutation_p.R79P|AMPD1_ENST00000520113.2_Missense_Mutation_p.R112P NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 79 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AACAGTCTTCCGTCCTTGGAA 0.383000 10 58 0 0 0.00136819 0 0 TRIM55 84675 broad.mit.edu 37 8 67040549 67040549 + Missense_Mutation SNP C C G rs61760894 TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:67040549C>G ENST00000315962.4 + 2 552 c.179C>G c.(178-180)cCg>cGg p.P60R TRIM55_ENST00000353317.5_Missense_Mutation_p.P60R|TRIM55_ENST00000350034.4_Missense_Mutation_p.P60R|TRIM55_ENST00000276573.7_Missense_Mutation_p.P60R NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 60 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GCCTCTAACCCGTATTTGCCC 0.473000 31 91 0 0 0.00148497 0 0 OR4X1 390113 broad.mit.edu 37 11 48285958 48285958 + Silent SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:48285958G>T ENST00000320048.1 + 1 546 c.546G>T c.(544-546)gtG>gtT p.V182V NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCCACCCAGTGCTGGAGCTGG 0.552000 5 29 8.12818e-05 0.000572564 8.12818e-05 1 0 DPP6 1804 broad.mit.edu 37 7 154172103 154172103 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:154172103C>T ENST00000404039.1 + 3 833 c.246C>T c.(244-246)ccC>ccT p.P82P DPP6_ENST00000377770.3_Silent_p.P146P|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000406326.1_Silent_p.P146P|DPP6_ENST00000427557.1_Silent_p.P84P|DPP6_ENST00000332007.3_Silent_p.P84P NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 146 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.P146P(2)|p.P84P(1)|p.P82P(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTCATGACCCCGAGGCTAAGT 0.433000 10 51 0 0 0.00185496 0 0 PFKL 5211 broad.mit.edu 37 21 45744486 45744486 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr21:45744486G>T ENST00000403390.1 + 18 1904 c.1904G>T c.(1903-1905)gGg>gTg p.G635V PFKL_ENST00000349048.4_Missense_Mutation_p.G588V P17858 K6PL_HUMAN phosphofructokinase, liver 588 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) ATTGCTGTGGGGGCCGACGCC 0.632000 23 40 1.88708e-17 1.83886e-16 0.001512 1 0 TMEM132D 121256 broad.mit.edu 37 12 129569171 129569171 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:129569171G>T ENST00000422113.2 - 6 1846 c.1520C>A c.(1519-1521)aCc>aAc p.T507N TMEM132D_ENST00000389441.4_Missense_Mutation_p.T45N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 507 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGCTGGTAGGTGAAGTTCAC 0.537000 11 47 9.31168e-06 6.69372e-05 0.00185496 1 0 CNTN5 53942 broad.mit.edu 37 11 99690359 99690359 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:99690359G>T ENST00000524871.1 + 4 430 c.140G>T c.(139-141)gGt>gTt p.G47V CNTN5_ENST00000279463.3_Missense_Mutation_p.G47V|CNTN5_ENST00000528682.1_Missense_Mutation_p.G47V|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.G47V NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 47 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCTCTCTTTGGTTCCAAAACC 0.423000 9 75 7.03913e-09 5.39154e-08 0.00136819 1 0 IQGAP2 10788 broad.mit.edu 37 5 75991309 75991309 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:75991309C>A ENST00000274364.6 + 32 4321 c.4024C>A c.(4024-4026)Cgt>Agt p.R1342S IQGAP2_ENST00000396234.3_Missense_Mutation_p.R838S|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R838S|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R844S|CTD-2384B11.2_ENST00000507514.1_RNA NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1342 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CATGGTGAGCCGTGCAATGAT 0.433000 9 46 0.000442599 0.00304439 0.000442599 1 0 STAC 6769 broad.mit.edu 37 3 36485098 36485098 + Silent SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:36485098C>A ENST00000273183.3 + 2 654 c.354C>A c.(352-354)ccC>ccA p.P118P STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Silent_p.P118P NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 118 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TCAAGAAGCCCACTTTCTGTG 0.577000 28 66 6.02846e-25 6.33168e-24 0.00058488 1 0 CDC27 996 broad.mit.edu 37 17 45214646 45214646 + Silent SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:45214646T>C ENST00000066544.3 - 14 1878 c.1785A>G c.(1783-1785)caA>caG p.Q595Q CDC27_ENST00000531206.1_Silent_p.Q601Q|CDC27_ENST00000527547.1_Silent_p.Q594Q|CDC27_ENST00000446365.2_Silent_p.Q534Q NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 595 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTGGATCAACTTGGATAGCTC 0.388000 4 68 0 0 0.000157383 0 0 NEB 4703 broad.mit.edu 37 2 152425821 152425821 + Silent SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:152425821G>A ENST00000397345.3 - 110 17698 c.17496C>T c.(17494-17496)tcC>tcT p.S5832S NEB_ENST00000603639.1_Silent_p.S5832S|NEB_ENST00000409198.1_Silent_p.S4131S|NEB_ENST00000427231.2_Silent_p.S5832S|NEB_ENST00000172853.10_Silent_p.S4131S|NEB_ENST00000604864.1_Silent_p.S5832S NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5851 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATGATTGACGGACACGGAGT 0.458000 13 85 0 0 0.000308642 0 0 GABRA5 2558 broad.mit.edu 37 15 27128526 27128526 + Nonsense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr15:27128526G>T ENST00000335625.5 + 6 1207 c.319G>T c.(319-321)Gaa>Taa p.E107* GABRA5_ENST00000355395.5_Nonsense_Mutation_p.E107*|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.E107*|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 107 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGGAAAGATGAAAGGCTTCG 0.577000 11 88 2.31682e-05 0.000165866 0.000308642 1 0 BSCL2 26580 broad.mit.edu 37 11 62462041 62462041 + Splice_Site SNP G G A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:62462041G>A ENST00000433053.1 - 5 1185 c.630_splice c.e5+1 p.S210_splice BSCL2_ENST00000407022.3_Splice_Site_p.S146_splice|BSCL2_ENST00000360796.5_Splice_Site_p.S210_splice|BSCL2_ENST00000421906.1_Splice_Site_p.S146_splice|BSCL2_ENST00000405837.1_Splice_Site_p.S210_splice|BSCL2_ENST00000278893.7_Splice_Site_p.S146_splice|BSCL2_ENST00000537604.1_5'UTR|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Splice_Site_p.S146_splice Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 146 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 AACACTTACCGAACGCGAAGA 0.547000 14 70 0 0 0.00074312 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963407 73963407 + Missense_Mutation SNP T T A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:73963407T>A ENST00000373468.1 - 3 1636 c.985A>T c.(985-987)Atg>Ttg p.M329L KIAA2022_ENST00000055682.5_Missense_Mutation_p.M329L Q5QGS0 K2022_HUMAN KIAA2022 329 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCTTCCTGCATCAAAAGAGTA 0.448000 54 28 0 0 0.000781405 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707786 26707786 + Silent SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr22:26707786T>C ENST00000529632.2 + 8 1930 c.1734T>C c.(1732-1734)acT>acC p.T578T SEZ6L_ENST00000402979.1_Silent_p.T351T|SEZ6L_ENST00000343706.4_Silent_p.T578T|SEZ6L_ENST00000360929.3_Silent_p.T578T|SEZ6L_ENST00000248933.6_Silent_p.T578T|SEZ6L_ENST00000404234.3_Silent_p.T578T|SEZ6L_ENST00000403121.1_Silent_p.T351T NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 578 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGAACTTCACTACATCCGACC 0.547000 49 182 0 0 0.000781405 0 0 NPAS4 266743 broad.mit.edu 37 11 66191665 66191665 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:66191665C>A ENST00000311034.2 + 7 1480 c.1304C>A c.(1303-1305)gCc>gAc p.A435D NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 435 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GGAGGCTGTGCCTTCCTCTTC 0.557000 11 253 2.68362e-12 2.33023e-11 0.00136819 1 0 L1CAM 3897 broad.mit.edu 37 X 153130294 153130294 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:153130294C>G ENST00000370060.1 - 23 3217 c.3028G>C c.(3028-3030)Ggc>Cgc p.G1010R L1CAM_ENST00000538883.1_Missense_Mutation_p.G1012R|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1005R|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1005R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1010R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1010R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1012R NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1010 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCATAGTGCCTCCTTCCCGT 0.632000 5 80 0 0 0.000157383 0 0 LEF1 51176 broad.mit.edu 37 4 109000667 109000667 + Missense_Mutation SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:109000667C>G ENST00000379951.2 - 6 1930 c.742G>C c.(742-744)Gac>Cac p.D248H LEF1_ENST00000438313.2_Missense_Mutation_p.D248H|LEF1_ENST00000265165.1_Missense_Mutation_p.D276H|LEF1_ENST00000510624.1_Missense_Mutation_p.D180H NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 276 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) AGGTCACTGTCAGTGTGGGGA 0.502000 13 83 0 0 0.000422831 0 0 TESPA1 9840 broad.mit.edu 37 12 55356904 55356904 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:55356904G>T ENST00000524622.1 - 7 1025 c.364C>A c.(364-366)Cat>Aat p.H122N TESPA1_ENST00000449076.1_Missense_Mutation_p.H260N|TESPA1_ENST00000531122.1_Missense_Mutation_p.H122N|TESPA1_ENST00000316577.8_Missense_Mutation_p.H260N|TESPA1_ENST00000532804.1_Missense_Mutation_p.H122N NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 260 TCAGTTGGATGGTTGCAATTC 0.507000 13 18 4.7546e-09 3.65771e-08 0.000422831 1 0 VIT 5212 broad.mit.edu 37 2 36970274 36970274 + Silent SNP C C A rs146980566 TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:36970274C>A ENST00000379242.3 + 4 452 c.150C>A c.(148-150)gcC>gcA p.A50A VIT_ENST00000389975.3_Silent_p.A50A|VIT_ENST00000404084.1_Silent_p.A28A|VIT_ENST00000401530.1_Silent_p.A50A|VIT_ENST00000457137.2_Silent_p.A50A|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Silent_p.A50A NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 50 LCCL. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ATGTCAAAGCCGGAAAGATCA 0.448000 12 92 9.31168e-06 6.69372e-05 0.00185496 1 0 SEPT14 346288 broad.mit.edu 37 7 55914312 55914312 + Missense_Mutation SNP G G T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:55914312G>T ENST00000388975.3 - 3 189 c.73C>A c.(73-75)Cgt>Agt p.R25S SEPT14_ENST00000477628.1_5'UTR NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 25 cell cycle|cell division septin complex GTP binding|protein binding p.R25C(2) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTAAACAACGAATATTATTT 0.284000 21 39 5.26018e-13 4.68343e-12 0.00188189 1 0 ZNF649 65251 broad.mit.edu 37 19 52394419 52394419 + Nonsense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:52394419C>A ENST00000354957.3 - 5 1254 c.970G>T c.(970-972)Gga>Tga p.G324* ZNF649_ENST00000600738.1_Nonsense_Mutation_p.G296*|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) AAGCCTTTTCCACATTCACTG 0.458000 7 38 0.000274275 0.00189401 0.000274275 1 0 CACNG6 59285 broad.mit.edu 37 19 54515421 54515421 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:54515421A>G ENST00000252729.2 + 4 1351 c.761A>G c.(760-762)aAg>aGg p.K254R CACNG6_ENST00000346968.2_Missense_Mutation_p.K208R|CACNG6_ENST00000352529.1_Missense_Mutation_p.K183R NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 254 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTCTGTCCCAAGCGGGGGCAC 0.652000 17 61 0 0 0.00121646 0 0 STAC 6769 broad.mit.edu 37 3 36485097 36485097 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:36485097C>A ENST00000273183.3 + 2 653 c.353C>A c.(352-354)cCc>cAc p.P118H STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.P118H NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 118 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TTCAAGAAGCCCACTTTCTGT 0.577000 27 68 9.78485e-24 1.02158e-22 0.000491102 1 0 PKD1 5310 broad.mit.edu 37 16 2147377 2147377 + Nonsense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr16:2147377C>A ENST00000262304.4 - 33 10556 c.10348G>T c.(10348-10350)Gag>Tag p.E3450* PKD1_ENST00000423118.1_Nonsense_Mutation_p.E3449* NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3450 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAGCCGTCCTCCTCTGGGCCC 0.657000 8 30 1.58986e-06 1.15232e-05 0.000673444 1 0 KIF21B 23046 broad.mit.edu 37 1 200945903 200945903 + Splice_Site SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:200945903C>G ENST00000332129.2 - 31 4721 c.e31+1 KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site 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 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 AGCTGAGGTACCTTAACGTAG 0.572000 5 31 0 0 0.000602214 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21391972 21391972 + Missense_Mutation SNP T T C TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:21391972T>C ENST00000256958.2 + 15 2021 c.1925T>C c.(1924-1926)aTa>aCa p.I642T NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 642 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ttatatattatattaatttat 0.279000 31 16 0 0 0.00111076 0 0 ZNF536 9745 broad.mit.edu 37 19 31039823 31039823 + Silent SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:31039823C>T ENST00000355537.3 + 4 3444 c.3297C>T c.(3295-3297)caC>caT p.H1099H NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1099 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGACCGGCCACGTGGACCCTG 0.542000 5 63 0 0 0.000274275 0 0 BCL11A 53335 broad.mit.edu 37 2 60773317 60773317 + Silent SNP C C G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr2:60773317C>G ENST00000335712.6 - 2 401 c.174G>C c.(172-174)ggG>ggC p.G58G BCL11A_ENST00000358510.4_Silent_p.G58G|BCL11A_ENST00000538214.1_Silent_p.G58G|BCL11A_ENST00000359629.5_Silent_p.G58G|BCL11A_ENST00000356842.4_Silent_p.G58G|BCL11A_ENST00000537768.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 58 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TAAGAATGTCCCCCAATGGGA 0.502000 T IGH@ B-CLL 19 42 0 0 0.000958276 0 0 PCDH18 54510 broad.mit.edu 37 4 138451598 138451598 + Missense_Mutation SNP C C A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr4:138451598C>A ENST00000344876.4 - 1 2031 c.1645G>T c.(1645-1647)Gat>Tat p.D549Y PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.D329Y|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D549Y NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 549 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CTTCCTCCATCTCTTGCTTCT 0.448000 32 98 1.56738e-10 1.29001e-09 0.000814825 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176003 140176003 + Missense_Mutation SNP A A G TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr5:140176003A>G ENST00000526136.1 + 1 1454 c.1454A>G c.(1453-1455)cAg>cGg p.Q485R PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q485R|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q485R|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGACGCGCAGGAGAACGCG 0.657000 6 94 0 0 0.000274275 0 0 PADI2 11240 broad.mit.edu 37 1 17402183 17402183 + Frame_Shift_Del DEL G G - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr1:17402183delG ENST00000375486.4 - 12 1509 c.1446delC c.(1444-1446)ccfs p.P482fs PADI2_ENST00000444885.2_Frame_Shift_Del_p.P366fs|PADI2_ENST00000466151.1_5'UTR NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 482 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CCTTTGTGCCGGGGATGGGGA 0.587 OREG0013145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 89 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1269671 1269671 + Frame_Shift_Del DEL T T - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:1269671delT ENST00000446702.2 + 4 979 c.352delT c.(352-354)ttfs p.F118fs CNTN6_ENST00000539053.1_Frame_Shift_Del_p.F46fs|CNTN6_ENST00000350110.2_Frame_Shift_Del_p.F118fs Q9UQ52 CNTN6_HUMAN contactin 6 118 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAAGCTCCAATTTGCATGTGA 0.388 60 78 --- --- --- --- RP11-314M24.1 0 broad.mit.edu 37 3 78320208 78320210 + RNA DEL TCC TCC - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:78320208_78320210delTCC ENST00000484679.1 + 0 128 ctcctcctcgtcctcctcctcct 0.419 2 4 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143940 160143940 + Frame_Shift_Del DEL A A - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr3:160143940delA ENST00000357388.3 + 17 3008 c.2557delA c.(2557-2559)aafs p.K855fs SMC4_ENST00000344722.5_Frame_Shift_Del_p.K855fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.K855fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.K830fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Del_p.K855fs NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 855 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AGCCCCTGACAAAAAAAAGCA 0.323 8 376 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508369 71508370 + Frame_Shift_Ins INS - - A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr6:71508369_71508370insA ENST00000370455.3 + 6 753_754 c.505_506insA c.(505-507)aaafs p.K169fs SMAP1_ENST00000370452.3_Frame_Shift_Ins_p.K142fs|SMAP1_ENST00000316999.5_Frame_Shift_Ins_p.K142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 gaaagaaaaggaaaaaaaaaag 0.287 3 6 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82585022 82585022 + Frame_Shift_Del DEL T T - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr7:82585022delT ENST00000423517.2 - 5 5584 c.5247delA c.(5245-5247)aafs p.K1749fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1749fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1680 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCTCTCTCCTTTTTTGTGAC 0.478 7 341 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113304884 113304885 + Frame_Shift_Ins INS - - A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr8:113304884_113304885insA ENST00000297405.5 - 55 8913_8914 c.8669_8670insT c.(8668-8670)gttfs p.V2890fs CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.V2850fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.V2721fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.V2820fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2890 Sushi 19. integral to membrane|plasma membrane p.G2890E(1)|p.G2890G(1)|p.G2850G(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAAAGTTGAACCCATTTCCACT 0.446 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 111 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 9 166 --- --- --- --- HOXC8 3224 broad.mit.edu 37 12 54403325 54403325 + Frame_Shift_Del DEL C C - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr12:54403325delC ENST00000040584.4 + 1 494 c.257delC c.(256-258)tcfs p.S86fs NM_022658.3 NP_073149.1 P31273 HXC8_HUMAN homeobox C8 86 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 8 GGAGACGCCTCCAAATTCTAT 0.587 93 208 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 9 28 --- --- --- --- IGHV3-48 28424 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 8 457 --- --- --- --- SRCIN1 80725 broad.mit.edu 37 17 36720500 36720500 + Frame_Shift_Del DEL T T - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr17:36720500delT ENST00000264659.7 - 4 619 c.395delA c.(394-396)cgfs p.Q132fs SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Frame_Shift_Del_p.Q166fs NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 149 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CTTTGCCGCCTGGTCTGCCAG 0.697 2 4 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1220410 1220410 + Frame_Shift_Del DEL A A - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:1220410delA ENST00000326873.7 + 4 1676 c.503delA c.(502-504)ctfs p.H168fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 168 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.H168R(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GAGTACCTGCATAGCCAGGGC 0.647 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 8 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48204803 48204805 + In_Frame_Del DEL TCC TCC - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chr19:48204803_48204805delTCC ENST00000396720.3 + 15 4008_4010 c.3814_3816delTCC c.(3814-3816)del p.S1276del CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1276 Poly-Ser. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) gtcctcctcttcctcctcctcct 0.719 2 4 --- --- --- --- CRLF2 64109 broad.mit.edu 37 X 1321390 1321390 + Frame_Shift_Del DEL G G - TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrX:1321390delG ENST00000381567.3 - 4 364 c.365delC c.(364-366)cgfs p.P122fs CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Frame_Shift_Del_p.P122fs NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 122 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CACGTGCTTCGGGGAACTGGG 0.542 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 14 152 --- --- --- --- UTY 7404 broad.mit.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c4b3488-96b4-436c-81d6-b020d3f2a2a7 2223166b-1a51-43dd-bc3c-12e5ebdfdfc8 g.chrY:15448217_15448218insA ENST00000331397.4 - 16 2778 c.e16-2 UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000538878.1_Splice_Site NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATGAAGCCCCTAAAAAAAAAAA 0.361 4 3 --- --- --- ---