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 ARHGEF10L 55160 broad.mit.edu 37 1 17983154 17983154 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:17983154G>A ENST00000361221.3 + 25 2970 c.2811G>A c.(2809-2811)ctG>ctA p.L937L ARHGEF10L_ENST00000375408.3_Silent_p.L710L|ARHGEF10L_ENST00000167825.4_Silent_p.L640L|ARHGEF10L_ENST00000434513.1_Silent_p.L932L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.L898L|ARHGEF10L_ENST00000375415.1_Silent_p.L898L NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 937 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.L937L(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CCTTCCACCTGCTCGCTGGCC 0.662000 20 94 0 0 0.001882 0 0 CACNA1G 8913 broad.mit.edu 37 17 48680470 48680470 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:48680470A>G ENST00000352832.5 + 20 4382 c.4010A>G c.(4009-4011)gAc>gGc p.D1337G CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1360G|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1337G|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D1360G|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1337G|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1360G|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1337G|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1337G|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1337G|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D1360G|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1337G|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1360G|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1360G|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1337G NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1360 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.D1360G(3)|p.D1337G(1) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCCGTCATCGACATTCTGGTG 0.652000 8 134 0 0 0.006214 0 0 IGHG2 3501 broad.mit.edu 37 14 106110951 106110951 + RNA SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:106110951G>T ENST00000390545.2 - 0 176 AGAGTCCTGAGGACTGTAGGA 0.617000 10 99 1.58986e-06 1.93682e-06 0.008291 1 0 PAH 5053 broad.mit.edu 37 12 103238194 103238194 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:103238194C>A ENST00000553106.1 - 10 1457 c.985G>T c.(985-987)Gtg>Ttg p.V329L PAH_ENST00000307000.2_Missense_Mutation_p.V324L NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 329 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity p.V329L(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CCAAACTCCACAGTAAACCAG 0.438000 10 34 0.000442599 0.000487966 0.006214 1 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 43 0 0 0.001168 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763929 14763929 + Silent SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:14763929A>G ENST00000358984.4 + 7 1245 c.1065A>G c.(1063-1065)aaA>aaG p.K355K ANKRD30B_ENST00000447268.2_Silent_p.K355K|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 355 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GGCCAGCAAAAGAAAGATCTA 0.373000 3 15 0 0 0.004672 0 0 TRIM60 166655 broad.mit.edu 37 4 165961743 165961743 + Silent SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:165961743A>G ENST00000512596.1 + 3 735 c.519A>G c.(517-519)aaA>aaG p.K173K TRIM60_ENST00000508504.1_Silent_p.K173K|TRIM60_ENST00000341062.5_Silent_p.K173K NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 173 intracellular zinc ion binding p.K173K(1) NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TGGAGCTGAAAAAGAAGGTAG 0.353000 11 75 0 0 0.001855 0 0 PLXNA4 91584 broad.mit.edu 37 7 131908295 131908295 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:131908295C>A ENST00000359827.3 - 9 3050 c.2088G>T c.(2086-2088)aaG>aaT p.K696N PLXNA4_ENST00000321063.4_Missense_Mutation_p.K696N Q9HCM2 PLXA4_HUMAN plexin A4 696 PSI 2. integral to membrane|intracellular|plasma membrane p.K696N(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCTCGGGCAGCTTCACTCGGC 0.567000 8 35 0.000157383 0.000176606 0.003080 1 0 IGSF9B 22997 broad.mit.edu 37 11 133790344 133790344 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:133790344C>A ENST00000321016.8 - 18 3506 c.3276G>T c.(3274-3276)ccG>ccT p.P1092P IGSF9B_ENST00000533871.2_Silent_p.P1092P Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1092 Pro-rich. integral to membrane|plasma membrane p.P1092P(1)|p.P548P(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) ACAGGATGCCCGGGTAGGCCG 0.721000 20 46 1.2644e-06 1.55338e-06 0.010504 1 0 TAS2R19 259294 broad.mit.edu 37 12 11174543 11174543 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:11174543G>A ENST00000390673.2 - 1 676 c.628C>T c.(628-630)Cgg>Tgg p.R210W TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 210 sensory perception of taste integral to membrane G-protein coupled receptor activity p.R210W(1) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CTATGGAGCCGCATCTTCTTG 0.403000 30 102 0 0 0.002445 0 0 EDARADD 128178 broad.mit.edu 37 1 236645937 236645937 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:236645937C>T ENST00000359362.5 + 6 820 c.606C>T c.(604-606)tcC>tcT p.S202S EDARADD_ENST00000334232.4_Silent_p.S212S NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 212 Death. cell differentiation|signal transduction cytoplasm p.S212S(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GAGACCCCTCCAGGCACTTCT 0.542000 41 205 0 0 0.003610 0 0 MMP16 4325 broad.mit.edu 37 8 89053848 89053848 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:89053848C>A ENST00000286614.6 - 10 1946 c.1665G>T c.(1663-1665)ctG>ctT p.L555L NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 555 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.L555L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CTGTGTTGTCCAGTTTGATGA 0.453000 45 71 1.00953e-15 1.58435e-15 0.003214 1 0 NRG3 10718 broad.mit.edu 37 10 84498364 84498364 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:84498364G>A ENST00000372142.2 + 4 596 c.322G>A c.(322-324)Gat>Aat p.D108N NRG3_ENST00000556918.1_Missense_Mutation_p.D159N|NRG3_ENST00000404547.1_Missense_Mutation_p.D329N|NRG3_ENST00000372141.2_Missense_Mutation_p.D329N|NRG3_ENST00000404576.2_Missense_Mutation_p.D133N NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 329 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.D108N(1)|p.D329N(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGTCCGTTGTGATCAATTTCT 0.393000 31 139 0 0 0.002836 0 0 FAM160A2 84067 broad.mit.edu 37 11 6239874 6239874 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:6239874T>A ENST00000265978.4 - 8 1749 c.1391A>T c.(1390-1392)cAc>cTc p.H464L FAM160A2_ENST00000524416.1_Missense_Mutation_p.H464L|FAM160A2_ENST00000449352.2_Missense_Mutation_p.H464L NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 464 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding p.H464L(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCTGGGGGCGTGGTGCCGACA 0.592000 52 278 0 0 0.003610 0 0 NDEL1 81565 broad.mit.edu 37 17 8350154 8350154 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:8350154A>G ENST00000334527.7 + 4 520 c.323A>G c.(322-324)aAg>aGg p.K108R NDEL1_ENST00000402554.3_Missense_Mutation_p.K108R|NDEL1_ENST00000380025.4_Missense_Mutation_p.K108R|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.K108R NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 108 Interaction with KATNB1 (By similarity).|Self-association (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle p.K108R(2) large_intestine(6)|lung(4)|skin(3) 13 CGGGCCATTAAGGAGCAGTTG 0.453000 21 53 0 0 0.002299 0 0 MYO1G 64005 broad.mit.edu 37 7 45005450 45005450 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:45005450C>A ENST00000258787.7 - 17 2303 c.2167G>T c.(2167-2169)Ggc>Tgc p.G723C NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 723 IQ. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity p.G723C(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GCCAAGGTGCCCCGCCATGCC 0.607000 11 26 8.10497e-08 1.04511e-07 0.010504 1 0 POLR1A 25885 broad.mit.edu 37 2 86271325 86271325 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:86271325C>T ENST00000263857.6 - 22 3450 c.3072G>A c.(3070-3072)ctG>ctA p.L1024L POLR1A_ENST00000409681.1_Silent_p.L1024L O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1024 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.L1024L(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TGGGGATGTCCAGGCCATCCT 0.602000 18 99 0 0 0.007413 0 0 PDE6C 5146 broad.mit.edu 37 10 95380423 95380423 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:95380423C>A ENST00000371447.3 + 2 653 c.515C>A c.(514-516)aCt>aAt p.T172N NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 172 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.T172N(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GACAAGCAAACTGGGTATGTC 0.433000 22 134 7.45023e-12 1.07371e-11 0.010504 1 0 TRPS1 7227 broad.mit.edu 37 8 116427219 116427219 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:116427219C>G ENST00000395715.3 - 7 3494 c.2917G>C c.(2917-2919)Gct>Cct p.A973P TRPS1_ENST00000220888.5_Missense_Mutation_p.A960P|TRPS1_ENST00000519076.1_Missense_Mutation_p.A714P|TRPS1_ENST00000520276.1_Missense_Mutation_p.A964P NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 960 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A960P(1)|p.A973P(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGCTGCTCAGCCTGAAGTGCC 0.478000 Langer-Giedion syndrome 53 104 0 0 0.003610 0 0 CACNA1S 779 broad.mit.edu 37 1 201043678 201043678 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:201043678G>T ENST00000362061.3 - 14 2245 c.2019C>A c.(2017-2019)gcC>gcA p.A673A CACNA1S_ENST00000367338.3_Silent_p.A673A NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 673 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.A673A(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGCCTTCTGGGCAGAAGTCA 0.567000 8 47 3.09899e-07 3.92716e-07 0.004482 1 0 OR8S1 341568 broad.mit.edu 37 12 48920047 48920047 + Silent SNP C C T rs139022158 byFrequency TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:48920047C>T ENST00000310194.1 + 1 633 c.633C>T c.(631-633)ttC>ttT p.F211F OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211F(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TGGGAAACTTCCTTTTGGTCT 0.537000 39 135 0 0 0.004878 0 0 CCR2 729230 broad.mit.edu 37 3 46400068 46400068 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:46400068C>A ENST00000445132.2 + 2 1545 c.1050C>A c.(1048-1050)tcC>tcA p.S350S CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000292301.4_Intron|CCR2_ENST00000400888.2_Intron NM_001123396.1 NP_001116868.1 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 0 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity p.S350S(1) breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) ACACGCCTTCCACTGGGGAGC 0.438000 7 10 8.12818e-05 9.1911e-05 0.001984 1 0 BRF1 2972 broad.mit.edu 37 14 105692627 105692627 + Splice_Site SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:105692627G>A ENST00000546474.1 - 9 15875 c.915_splice c.e9-1 p.L306_splice BRF1_ENST00000379937.2_Splice_Site_p.L279_splice|BRF1_ENST00000392557.4_Splice_Site_p.L102_splice|BRF1_ENST00000440513.3_Splice_Site_p.L191_splice|BRF1_ENST00000446501.2_Splice_Site_p.L68_splice|BRF1_ENST00000327359.3_Splice_Site_p.L191_splice|BRF1_ENST00000379932.4_Splice_Site_p.L102_splice|BRF1_ENST00000551787.1_Splice_Site_p.L102_splice NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 306 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding p.L191F(1)|p.L306F(1) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ACTTGTTCAAGCTGAAAGGGA 0.527000 74 177 0 0 0.003610 0 0 CDAN1 146059 broad.mit.edu 37 15 43027805 43027805 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr15:43027805C>G ENST00000356231.3 - 4 869 c.846G>C c.(844-846)cgG>cgC p.R282R NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 282 integral to membrane protein binding p.R282R(1) endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GGCTTCCTGTCCGGCTGGGGA 0.577000 19 68 0 0 0.003954 0 0 AKNA 80709 broad.mit.edu 37 9 117139109 117139109 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:117139109C>G ENST00000307564.4 - 3 1139 c.978G>C c.(976-978)cgG>cgC p.R326R AKNA_ENST00000374088.3_Silent_p.R326R|AKNA_ENST00000374075.5_Silent_p.R245R|AKNA_ENST00000312033.3_Silent_p.R326R|AKNA_ENST00000223791.3_5'UTR NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R326R(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GCCTGCCCTGCCGCGTTGGCC 0.622000 7 28 0 0 0.003080 0 0 SGCD 6444 broad.mit.edu 37 5 155935668 155935668 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:155935668G>T ENST00000435422.3 + 3 734 c.247G>T c.(247-249)Gaa>Taa p.E83* SGCD_ENST00000337851.4_Nonsense_Mutation_p.E84*|SGCD_ENST00000517913.1_Nonsense_Mutation_p.E84*|SGCD_ENST00000447401.1_Nonsense_Mutation_p.E84* NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 83 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma p.E84*(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGAGACTCTGAATTCTTACA 0.413000 7 19 3.86212e-05 4.38968e-05 0.008291 1 0 FRAS1 80144 broad.mit.edu 37 4 79343066 79343066 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:79343066G>A ENST00000264895.6 + 34 5030 c.4590G>A c.(4588-4590)acG>acA p.T1530T FRAS1_ENST00000325942.6_Silent_p.T1530T NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1529 cell communication integral to membrane|plasma membrane metal ion binding p.T1530T(3) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GGTATTTCACGCAAGAGGATA 0.552000 37 243 0 0 0.003610 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552501 21552501 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:21552501G>T ENST00000281523.2 - 4 809 c.291C>A c.(289-291)gcC>gcA p.A97A ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 97 nucleus nucleic acid binding|zinc ion binding p.A97A(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CTTTGTAGTGGGCCGCAGCCT 0.448000 12 56 9.31168e-06 1.09798e-05 0.001855 1 0 CHL1 10752 broad.mit.edu 37 3 383704 383704 + Silent SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:383704T>A ENST00000256509.2 + 7 1260 c.618T>A c.(616-618)gcT>gcA p.A206A CHL1_ENST00000397491.2_Silent_p.A206A NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 206 Ig-like C2-type 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.A206A(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GTTGCTTTGCTGCATTTCCAA 0.373000 5 27 0 0 0.001168 0 0 TMEM69 51249 broad.mit.edu 37 1 46159007 46159007 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:46159007G>C ENST00000372025.4 + 3 1331 c.174G>C c.(172-174)atG>atC p.M58I TMEM69_ENST00000496366.1_3'UTR NM_016486.3 NP_057570.2 Q5SWH9 TMM69_HUMAN transmembrane protein 69 58 integral to membrane p.M58I(1) kidney(3)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(166;0.155) CAGCGTATATGAGCAAGACAC 0.463000 128 578 0 0 0.003610 0 0 POLD2 5425 broad.mit.edu 37 7 44156543 44156543 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:44156543A>C ENST00000406581.2 - 7 1302 c.653T>G c.(652-654)cTg>cGg p.L218R POLD2_ENST00000452185.1_Missense_Mutation_p.L218R|POLD2_ENST00000223361.3_Missense_Mutation_p.L218R NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 218 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding p.L218R(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 CACATCCACCAGCAGCTGGGT 0.687000 7 38 0 0 0.004482 0 0 LAMA3 3909 broad.mit.edu 37 18 21441624 21441624 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:21441624G>A ENST00000313654.9 + 35 4678 c.4437G>A c.(4435-4437)ctG>ctA p.L1479L LAMA3_ENST00000399516.3_Silent_p.L1479L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1479 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.L1479L(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGATATGCTGGGCTGGCACC 0.557000 14 73 0 0 0.002450 0 0 MYOM2 9172 broad.mit.edu 37 8 2057240 2057240 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:2057240G>A ENST00000262113.4 + 25 3239 c.3098G>A c.(3097-3099)cGc>cAc p.R1033H MYOM2_ENST00000523438.1_Missense_Mutation_p.R458H NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1033 muscle contraction myosin filament structural constituent of muscle p.R1033H(1) 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) GGGCGGGTTCGCTTCTGGCTC 0.443000 25 39 0 0 0.005443 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581684 140581684 + Silent SNP T T C rs142465110 byFrequency TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:140581684T>C ENST00000354757.3 + 1 2337 c.2337T>C c.(2335-2337)ctT>ctC p.L779L PCDHB11_ENST00000536699.1_Silent_p.L414L NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 779 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.L779L(1) NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAAAGGTCTTGGGAAGAATA 0.383000 34 128 0 0 0.009718 0 0 FRMPD1 22844 broad.mit.edu 37 9 37733495 37733495 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:37733495A>G ENST00000539465.1 + 11 1614 c.1021A>G c.(1021-1023)Ata>Gta p.I341V FRMPD1_ENST00000541302.1_Missense_Mutation_p.I210V|FRMPD1_ENST00000536622.1_Missense_Mutation_p.I163V|FRMPD1_ENST00000377765.3_Missense_Mutation_p.I341V|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 341 FERM. cytoskeleton|cytosol|plasma membrane p.I341V(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AGAGAACTTTATATCTCCAAC 0.428000 13 125 0 0 0.001368 0 0 AGR3 155465 broad.mit.edu 37 7 16900155 16900155 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:16900155C>A ENST00000310398.2 - 7 490 c.420G>T c.(418-420)ttG>ttT p.L140F AGR3_ENST00000402239.3_Missense_Mutation_p.L140F NM_176813.3 NP_789783.1 Q8TD06 AGR3_HUMAN anterior gradient 3 140 extracellular region p.L140F(1) central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) CATATGTGTACAATCTGTTAG 0.393000 12 80 3.03607e-14 4.61692e-14 0.001368 1 0 PCDH17 27253 broad.mit.edu 37 13 58207776 58207776 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr13:58207776C>T ENST00000377918.3 + 1 1122 c.1096C>T c.(1096-1098)Cct>Tct p.P366S NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 366 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.P366S(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGAGGCCGCCCCTCCCGGCAC 0.682000 6 49 0 0 0.006214 0 0 TM4SF20 79853 broad.mit.edu 37 2 228243815 228243815 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:228243815C>G ENST00000304568.3 - 1 207 c.170G>C c.(169-171)gGa>gCa p.G57A NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 57 integral to membrane|plasma membrane p.G57A(1) breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) CAGACCTGCTCCTATAATTCC 0.418000 17 80 0 0 0.004007 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765131 77765131 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:77765131C>T ENST00000521891.2 + 10 6422 c.5974C>T c.(5974-5976)Ctt>Ttt p.L1992F ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1947F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1947F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1966F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1947 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L1992F(1) 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) CTATGACAAGCTTTATCCAAT 0.488000 HNSCC(33;0.089) 13 35 0 0 0.001368 0 0 UFC1 51506 broad.mit.edu 37 1 161123809 161123809 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:161123809C>T ENST00000368003.5 + 1 268 c.22C>T c.(22-24)Cgt>Tgt p.R8C UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 8 protein ufmylation protein binding|UFM1 conjugating enzyme activity p.R8C(1) endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCCACGCGACGTGTTGTGTC 0.567000 26 135 0 0 0.005443 0 0 CPNE4 131034 broad.mit.edu 37 3 131293942 131293942 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:131293942G>C ENST00000512055.1 - 14 3026 c.900C>G c.(898-900)atC>atG p.I300M CPNE4_ENST00000429747.1_Missense_Mutation_p.I300M|CPNE4_ENST00000511604.1_Missense_Mutation_p.I300M|CPNE4_ENST00000512332.1_Missense_Mutation_p.I318M|CPNE4_ENST00000502818.1_Missense_Mutation_p.I318M Q96A23 CPNE4_HUMAN copine IV 300 p.I300M(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AGCCACCCATGATGTAGTCCA 0.433000 31 82 0 0 0.009535 0 0 GJA1 2697 broad.mit.edu 37 6 121768009 121768009 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:121768009G>A ENST00000282561.3 + 2 173 c.16G>A c.(16-18)Gcc>Acc p.A6T NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 6 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity p.A6T(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TGACTGGAGCGCCTTAGGCAA 0.463000 6 212 0 0 0.001168 0 0 TRPC6 7225 broad.mit.edu 37 11 101353723 101353723 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:101353723G>T ENST00000344327.3 - 5 1891 c.1467C>A c.(1465-1467)tcC>tcA p.S489S TRPC6_ENST00000532133.1_Silent_p.S489S|TRPC6_ENST00000348423.4_Silent_p.S373S|TRPC6_ENST00000360497.4_Silent_p.S434S NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 489 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.S489S(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATGAGAAGCAGGATGTTTTCA 0.403000 15 71 5.35267e-07 6.68704e-07 0.007413 1 0 KMT2C 58508 broad.mit.edu 37 7 151945162 151945162 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:151945162G>T ENST00000355193.2 - 14 2575 c.2357C>A c.(2356-2358)aCa>aAa p.T786K KMT2C_ENST00000262189.6_Missense_Mutation_p.T786K lysine (K)-specific methyltransferase 2C p.T786K(2) TGAAGAAGGTGTTGGGGAGGA 0.433000 8 318 1.12685e-05 1.32165e-05 0.004482 1 0 NASP 4678 broad.mit.edu 37 1 46081054 46081054 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:46081054C>G ENST00000350030.3 + 11 2020 c.1933C>G c.(1933-1935)Ctg>Gtg p.L645V NASP_ENST00000537798.1_Missense_Mutation_p.L581V|NASP_ENST00000402363.3_Missense_Mutation_p.L647V|NASP_ENST00000372052.4_Missense_Mutation_p.L279V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.L306V NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 645 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding p.L647V(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) ACTAAAGGAACTGCTACCCGA 0.428000 23 119 0 0 0.002780 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43862482 43862482 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:43862482C>A ENST00000389420.3 - 8 1143 c.1144G>T c.(1144-1146)Gat>Tat p.D382Y ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D382Y NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 382 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding p.D382Y(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGTAAAGGATCACATATGGTA 0.333000 4 27 0.00909568 0.0096423 0.009096 1 0 LMTK2 22853 broad.mit.edu 37 7 97821047 97821047 + Nonsense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:97821047C>T ENST00000297293.5 + 11 1563 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 424 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Q424*(2) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CGACTTTGAACAGCAGTGGAA 0.572000 30 55 0 0 0.007291 0 0 EPC2 26122 broad.mit.edu 37 2 149542282 149542282 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:149542282G>T ENST00000258484.6 + 13 2097 c.2063G>T c.(2062-2064)aGc>aTc p.S688I NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 688 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S688I(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TTATCATCCAGCCCAGGGATT 0.418000 30 155 6.02846e-25 1.08512e-24 0.003271 1 0 LMO7 4008 broad.mit.edu 37 13 76427505 76427505 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr13:76427505G>T ENST00000357063.3 + 29 6058 c.4798G>T c.(4798-4800)Ggc>Tgc p.G1600C LMO7_ENST00000341547.4_Missense_Mutation_p.G1266C|LMO7_ENST00000377534.3_Missense_Mutation_p.G1600C|LMO7_ENST00000526202.1_Missense_Mutation_p.G1192C|LMO7_ENST00000321797.8_Missense_Mutation_p.G1315C|LMO7_ENST00000465261.2_Missense_Mutation_p.G1315C Q8WWI1 LMO7_HUMAN LIM domain 7 1600 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding p.G1315C(1)|p.G1600C(1)|p.G1266C(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTCACAGTCAGGCTCTCAGCT 0.532000 15 51 1.05317e-09 1.43348e-09 0.002450 1 0 HUS1B 135458 broad.mit.edu 37 6 656684 656684 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:656684C>G ENST00000380907.2 - 1 279 c.261G>C c.(259-261)ctG>ctC p.L87L EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 87 p.L87L(1) endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CCGCCCGGGACAGGTGCTCCG 0.677000 5 16 0 0 0.001168 0 0 KLB 152831 broad.mit.edu 37 4 39439587 39439587 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:39439587C>A ENST00000257408.4 + 3 1674 c.1577C>A c.(1576-1578)tCc>tAc p.S526Y NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 526 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.S526Y(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TGTGACTTCTCCTGGGGTGTC 0.403000 11 45 0.000978159 0.00107039 0.000978 1 0 NLRP3 114548 broad.mit.edu 37 1 247588096 247588096 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:247588096C>T ENST00000366497.2 + 4 2131 c.1351C>T c.(1351-1353)Ctg>Ttg p.L451L NLRP3_ENST00000336119.3_Silent_p.L451L|NLRP3_ENST00000348069.2_Silent_p.L451L|NLRP3_ENST00000391827.2_Silent_p.L451L|NLRP3_ENST00000391828.3_Silent_p.L451L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L451L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 451 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L451L(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TTCCAGTTTGCTGCAGCCCCG 0.592000 15 63 0 0 0.004007 0 0 RYR1 6261 broad.mit.edu 37 19 38939038 38939038 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:38939038C>T ENST00000355481.4 + 10 975 c.844C>T c.(844-846)Cgg>Tgg p.R282W RYR1_ENST00000360985.3_Missense_Mutation_p.R282W|RYR1_ENST00000359596.3_Missense_Mutation_p.R282W NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 282 MIR 4. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R282W(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACTCCGAGTCCGGCATGTCAC 0.642000 41 195 0 0 0.003610 0 0 DMBX1 127343 broad.mit.edu 37 1 46978112 46978112 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:46978112G>T ENST00000371956.4 + 4 1110 c.1095G>T c.(1093-1095)cgG>cgT p.R365R DMBX1_ENST00000360032.3_Silent_p.R360R NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 365 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R365L(1) endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGAACCTGCGGCTCCGGGCCA 0.632000 18 124 1.55795e-14 2.39392e-14 0.001882 1 0 ADCY2 108 broad.mit.edu 37 5 7709407 7709407 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:7709407C>A ENST00000338316.4 + 10 1574 c.1485C>A c.(1483-1485)acC>acA p.T495T RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.T315T NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 495 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.T495T(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TCCGCATGACCCGGTACTTGG 0.592000 6 53 3.59834e-05 4.11105e-05 0.001168 1 0 RTN1 6252 broad.mit.edu 37 14 60213093 60213093 + Silent SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:60213093A>G ENST00000267484.5 - 2 683 c.348T>C c.(346-348)ccT>ccC p.P116P NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 116 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.P116P(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) AATCCTCCTGAGGTGGATAGC 0.488000 4 109 0 0 0.000602 0 0 NRXN2 9379 broad.mit.edu 37 11 64418893 64418893 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:64418893C>A ENST00000265459.6 - 14 3213 c.2752G>T c.(2752-2754)Gat>Tat p.D918Y NRXN2_ENST00000377551.1_Missense_Mutation_p.D918Y|NRXN2_ENST00000409571.1_Missense_Mutation_p.D911Y|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.D878Y NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 918 Laminin G-like 5. cell adhesion integral to membrane metal ion binding p.D918Y(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GTGACGGGATCGGCCACGATG 0.587000 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 58 1.58986e-06 1.93682e-06 0.008291 1 0 DMBX1 127343 broad.mit.edu 37 1 46978111 46978111 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:46978111G>T ENST00000371956.4 + 4 1109 c.1094G>T c.(1093-1095)cGg>cTg p.R365L DMBX1_ENST00000360032.3_Missense_Mutation_p.R360L NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 365 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R365L(1) endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GAGAACCTGCGGCTCCGGGCC 0.637000 18 123 5.26018e-13 7.78436e-13 0.001882 1 0 TPRG1L 127262 broad.mit.edu 37 1 3542012 3542012 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:3542012G>C ENST00000378344.2 + 2 297 c.226G>C c.(226-228)Gag>Cag p.E76Q TPRG1L_ENST00000344579.5_Missense_Mutation_p.E76Q NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 76 cell junction|synaptic vesicle p.E76Q(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) GCAGGCAGTGGAGGAGATCCG 0.716000 4 10 0 0 0.000602 0 0 MMP27 64066 broad.mit.edu 37 11 102576439 102576439 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:102576439G>T ENST00000260229.4 - 1 98 c.7C>A c.(7-9)Cgc>Agc p.R3S NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 3 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R3S(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) AGCAGAAGGCGCTTCATTCCT 0.388000 20 83 4.96729e-08 6.42397e-08 0.008871 1 0 GOLGB1 2804 broad.mit.edu 37 3 121411082 121411082 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:121411082T>A ENST00000393667.3 - 14 7239 c.7129A>T c.(7129-7131)Agg>Tgg p.R2377W GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2372W NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2372 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.R2372W(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCATGCAGCCTACTGGTCAGT 0.428000 20 86 0 0 0.001882 0 0 C20orf26 26074 broad.mit.edu 37 20 20177420 20177420 + Splice_Site SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:20177420G>T ENST00000245957.5 + 16 1873 c.1797_splice c.e16+1 p.K599_splice C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 599 p.K599N(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GAGAAGGCAAGGTAAGAGAAT 0.448000 14 69 7.93312e-07 9.79974e-07 0.002450 1 0 PSMB6 5694 broad.mit.edu 37 17 4701416 4701416 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:4701416C>A ENST00000270586.3 + 5 596 c.545C>A c.(544-546)aCc>aAc p.T182N NM_001270481.1|NM_002798.2 NP_001257410.1|NP_002789.1 P28072 PSB6_HUMAN proteasome (prosome, macropain) subunit, beta type, 6 182 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity p.T182N(1) endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 GAAGGCATGACCAAGGAAGAG 0.537000 18 169 2.35188e-11 3.31367e-11 0.006122 1 0 FOXN1 8456 broad.mit.edu 37 17 26851543 26851543 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:26851543C>T ENST00000226247.2 + 2 175 c.146C>T c.(145-147)tCg>tTg p.S49L FOXN1_ENST00000579795.1_Missense_Mutation_p.S49L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 49 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.S49L(1) endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) TTCAGCTGCTCGTCATTTGTG 0.642000 7 166 0 0 0.006214 0 0 CIITA 4261 broad.mit.edu 37 16 11016071 11016071 + Missense_Mutation SNP G G T rs142072017 TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:11016071G>T ENST00000324288.8 + 17 3330 c.3197G>T c.(3196-3198)cGt>cTt p.R1066L CIITA_ENST00000381835.5_Missense_Mutation_p.R482L NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1066 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding p.R1066L(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGCTTGGCTCGTGTGCTTCCG 0.627000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 59 277 2.48295e-43 4.74018e-43 0.003610 1 0 PDX1 3651 broad.mit.edu 37 13 28498617 28498617 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr13:28498617G>A ENST00000381033.4 + 2 750 c.631G>A c.(631-633)Ggc>Agc p.G211S NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 211 GG -> SS (in Ref. 6; AAC05157). detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GAAGCGCGGCGGCGGGACAGC 0.662000 3 36 0 0 0.009096 0 0 FAT3 120114 broad.mit.edu 37 11 92616483 92616483 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:92616483C>G ENST00000298047.6 + 23 12878 c.12861C>G c.(12859-12861)ccC>ccG p.P4287P FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Silent_p.P622P|FAT3_ENST00000525166.1_Silent_p.P4137P|FAT3_ENST00000409404.2_Silent_p.P4287P Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4287 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.P4287P(2)|p.P862P(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGTGGCCCCCAACCTCCCCG 0.652000 TCGA Ovarian(4;0.039) 7 60 0 0 0.003080 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 68 150 7.62596e-35 1.43108e-34 0.003610 1 0 THEMIS 387357 broad.mit.edu 37 6 128134714 128134714 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:128134714C>A ENST00000368250.1 - 5 1333 c.835G>T c.(835-837)Gct>Tct p.A279S THEMIS_ENST00000543064.1_Missense_Mutation_p.A358S|THEMIS_ENST00000537166.1_Missense_Mutation_p.A323S|THEMIS_ENST00000368248.2_Missense_Mutation_p.A358S Q8N1K5 THMS1_HUMAN thymocyte selection associated 358 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.A358S(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCACTCTTAGCGATCTCTAGG 0.498000 22 84 1.87028e-06 2.27216e-06 0.001882 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656817 40656817 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:40656817G>T ENST00000406785.1 - 2 793 c.604C>A c.(604-606)Cgt>Agt p.R202S SLC8A1_ENST00000542756.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R202S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R202S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R202S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R202S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R202S P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 202 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.R202S(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAGAAGACACGCAAATGCTTA 0.458000 13 40 4.3838e-07 5.52359e-07 0.001855 1 0 LOX 4015 broad.mit.edu 37 5 121413408 121413408 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:121413408G>A ENST00000231004.4 - 1 572 c.273C>T c.(271-273)atC>atT p.I91I NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 91 protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity p.I91I(1) endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) GGATCAGCAGGATCGGAGTGC 0.751000 4 14 0 0 0.000602 0 0 PLA2G3 50487 broad.mit.edu 37 22 31534744 31534744 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr22:31534744G>T ENST00000215885.3 - 2 808 c.556C>A c.(556-558)Cgc>Agc p.R186S NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 186 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity p.R186S(2) large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TGTGGGCAGCGGTCATGTTCC 0.582000 42 144 7.05121e-23 1.23396e-22 0.002522 1 0 C1orf173 127254 broad.mit.edu 37 1 75065534 75065534 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:75065534T>C ENST00000326665.5 - 11 1789 c.1571A>G c.(1570-1572)aAt>aGt p.N524S RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.N327S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 524 Glu-rich. p.N524S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CGGTATTCCATTCATTTGAAC 0.388000 13 67 0 0 0.002450 0 0 PRMT8 56341 broad.mit.edu 37 12 3677879 3677879 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:3677879C>A ENST00000382622.3 + 5 879 c.489C>A c.(487-489)acC>acA p.T163T PRMT8_ENST00000452611.2_Silent_p.T154T|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 163 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.T163T(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGTCATCACCATATTTAAGG 0.522000 16 86 4.14922e-12 6.01909e-12 0.004007 1 0 CYP46A1 10858 broad.mit.edu 37 14 100182493 100182493 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:100182493C>T ENST00000554176.1 + 4 1071 c.405C>T c.(403-405)gaC>gaT p.D135D CYP46A1_ENST00000423126.2_Silent_p.D191D|CYP46A1_ENST00000261835.3_Silent_p.D288D Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 288 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity p.D288D(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GAGCCCAGGACGACGAGGGTC 0.517000 27 142 0 0 0.008361 0 0 FREM1 158326 broad.mit.edu 37 9 14859287 14859287 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:14859287C>A ENST00000380881.4 - 5 1340 c.525G>T c.(523-525)ctG>ctT p.L175L FREM1_ENST00000422223.2_Silent_p.L175L|FREM1_ENST00000380880.3_Silent_p.L175L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 175 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.D176Y(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCGCAGTGTCCAGGCTGACGG 0.527000 18 94 5.03518e-11 6.96086e-11 0.007413 1 0 SERPINI2 5276 broad.mit.edu 37 3 167183287 167183287 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:167183287G>T ENST00000476257.1 - 5 951 c.653C>A c.(652-654)gCt>gAt p.A218D SERPINI2_ENST00000471111.1_Missense_Mutation_p.A218D|SERPINI2_ENST00000264677.4_Missense_Mutation_p.A218D|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A218D O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 218 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.A218D(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TCTCAGAAGAGCCTTCATCAT 0.328000 9 30 0.000274275 0.000304673 0.004482 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12919588 12919588 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:12919588G>T ENST00000240189.2 + 3 415 c.328G>T c.(328-330)Gag>Tag p.E110* NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 110 p.E110*(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGATGTTGATGAGAATTTCTG 0.542000 94 370 1.13638e-54 2.21745e-54 0.003610 1 0 STIM1 6786 broad.mit.edu 37 11 4103493 4103493 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:4103493G>T ENST00000300737.4 + 8 1618 c.1049G>T c.(1048-1050)tGg>tTg p.W350L STIM1_ENST00000533977.1_Missense_Mutation_p.W177L|STIM1_ENST00000527651.1_Missense_Mutation_p.W350L NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 350 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding p.W350L(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CTTCAGAAGTGGCTGCAGCTG 0.532000 17 42 2.48551e-13 3.6906e-13 0.004990 1 0 PTPRC 5788 broad.mit.edu 37 1 198665956 198665956 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:198665956C>A ENST00000367376.2 + 4 381 c.210C>A c.(208-210)acC>acA p.T70T PTPRC_ENST00000352140.3_Silent_p.T70T|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Silent_p.T72T|PTPRC_ENST00000348564.6_Intron NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 70 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.T70T(1) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TCTCAGAGACCACAACTTCTC 0.458000 26 123 5.60225e-13 8.26285e-13 0.009535 1 0 CETN2 1069 broad.mit.edu 37 X 151997692 151997692 + Splice_Site SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:151997692C>A ENST00000370277.3 - 3 358 c.e3+1 CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding p.?(1) breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TAGCTACTTACCATTTTCTGG 0.398000 Direct reversal of damage;Nucleotide excision repair (NER) 37 67 2.2871e-25 4.13364e-25 0.007835 1 0 OR6N2 81442 broad.mit.edu 37 1 158746816 158746816 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:158746816C>T ENST00000339258.1 - 1 609 c.610G>A c.(610-612)Gct>Act p.A204T NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 204 A -> V (in dbSNP:rs12027473). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A204T(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) ATTATGAAAGCATTAATGGCA 0.393000 7 53 0 0 0.001984 0 0 LRRC25 126364 broad.mit.edu 37 19 18507413 18507413 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:18507413C>G ENST00000339007.3 - 1 1014 c.361G>C c.(361-363)Gag>Cag p.E121Q LRRC25_ENST00000595840.1_Missense_Mutation_p.E121Q NM_145256.2 NP_660299.2 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 121 integral to membrane p.E121Q(1) endometrium(1)|large_intestine(3)|lung(3)|skin(1) 8 TGCCAGGACTCCAGGGCACAG 0.632000 17 53 0 0 0.004990 0 0 FBXO36 130888 broad.mit.edu 37 2 230861624 230861624 + Silent SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:230861624A>T ENST00000373652.3 + 4 691 c.270A>T c.(268-270)tcA>tcT p.S90S FBXO36_ENST00000409992.1_Silent_p.S101S|FBXO36_ENST00000283946.3_Silent_p.S121S Q8NEA4 FBX36_HUMAN F-box protein 36 121 p.S121S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) GTCAAACATCACACAGATTTG 0.333000 36 198 0 0 0.004289 0 0 LRRN3 54674 broad.mit.edu 37 7 110764808 110764808 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:110764808C>A ENST00000451085.1 + 4 3026 c.1980C>A c.(1978-1980)agC>agA p.S660R IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S660R|LRRN3_ENST00000422987.3_Missense_Mutation_p.S660R|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 660 integral to membrane p.S660R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GTGGACACAGCTATGTGAGGA 0.433000 34 84 6.70999e-13 9.86368e-13 0.004289 1 0 UBR4 23352 broad.mit.edu 37 1 19444381 19444381 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:19444381A>C ENST00000375267.2 - 72 10568 c.10565T>G c.(10564-10566)tTt>tGt p.F3522C UBR4_ENST00000375254.3_Missense_Mutation_p.F3522C|UBR4_ENST00000375217.2_Missense_Mutation_p.F3515C|UBR4_ENST00000375226.2_Missense_Mutation_p.F3498C|UBR4_ENST00000375218.3_5'UTR Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3522 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.F3522C(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ATAGCCATCAAACTCCACTAA 0.438000 28 112 0 0 0.002096 0 0 ARSH 347527 broad.mit.edu 37 X 2947341 2947341 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:2947341C>A ENST00000381130.2 + 8 1253 c.1253C>A c.(1252-1254)tCc>tAc p.S418Y NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 418 integral to membrane arylsulfatase activity|metal ion binding p.S418Y(1) breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 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) GCGTCCCACTCCGACCACGAG 0.547000 23 77 5.49717e-05 6.23201e-05 0.003330 1 0 OR7G1 125962 broad.mit.edu 37 19 9225999 9225999 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:9225999G>T ENST00000293614.1 - 1 440 c.441C>A c.(439-441)ctC>ctA p.L147L OR7G1_ENST00000541538.1_Silent_p.L147L Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L147L(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TGAACATGGAGAGAAGAATCA 0.483000 28 54 1.68575e-08 2.21916e-08 0.007291 1 0 CHRM2 1129 broad.mit.edu 37 7 136700630 136700630 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:136700630A>C ENST00000445907.2 + 3 1546 c.1018A>C c.(1018-1020)Act>Cct p.T340P AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.T340P|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T340P|CHRM2_ENST00000397608.3_Missense_Mutation_p.T340P|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T340P|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.T340P|AC009264.1_ENST00000597642.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 340 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.T340P(2) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATGTACCCCAACTAATACCAC 0.473000 8 118 0 0 0.006214 0 0 SEC23IP 11196 broad.mit.edu 37 10 121691670 121691670 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:121691670G>C ENST00000369075.3 + 16 2670 c.2598G>C c.(2596-2598)atG>atC p.M866I SEC23IP_ENST00000543134.1_Missense_Mutation_p.M655I|SEC23IP_ENST00000475542.1_3'UTR NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 866 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding p.M866_G867>I*(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TCTCTCGTATGGGATCTGATT 0.388000 17 132 0 0 0.010504 0 0 HDAC9 9734 broad.mit.edu 37 7 18705968 18705968 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:18705968A>T ENST00000406451.3 + 12 1741 c.1591A>T c.(1591-1593)Agc>Tgc p.S531C HDAC9_ENST00000524023.1_Missense_Mutation_p.S454C|HDAC9_ENST00000406072.1_Missense_Mutation_p.S518C|HDAC9_ENST00000441542.2_Missense_Mutation_p.S534C|HDAC9_ENST00000432645.2_Missense_Mutation_p.S531C|HDAC9_ENST00000428307.2_Missense_Mutation_p.S487C|HDAC9_ENST00000417496.2_Missense_Mutation_p.S529C|HDAC9_ENST00000405010.3_Missense_Mutation_p.S531C|HDAC9_ENST00000456174.2_Missense_Mutation_p.S503C|HDAC9_ENST00000401921.1_Missense_Mutation_p.S490C NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 531 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.S534C(2)|p.S531C(1)|p.S529C(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TAGGAGCGACAGCAGTGCTTG 0.557000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 91 0 0 0.001368 0 0 CHST10 9486 broad.mit.edu 37 2 101010245 101010245 + Splice_Site SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:101010245C>A ENST00000264249.3 - 7 919 c.e7-1 CHST10_ENST00000409701.1_Splice_Site|CHST10_ENST00000542617.1_Splice_Site NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction p.?(1) breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 TGTTTTCAATCTAAGGAAAAA 0.428000 29 76 7.26314e-15 1.12388e-14 0.007291 1 0 SP3 6670 broad.mit.edu 37 2 174820756 174820756 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:174820756T>C ENST00000310015.6 - 4 1014 c.484A>G c.(484-486)Aat>Gat p.N162D SP3_ENST00000455789.2_Missense_Mutation_p.N109D|SP3_ENST00000418194.2_Missense_Mutation_p.N94D NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 162 Transactivation domain (Gln-rich). negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding p.N162D(1) EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) ACTGTACCATTTGATGAATCT 0.428000 55 186 0 0 0.003610 0 0 CDH17 1015 broad.mit.edu 37 8 95188777 95188777 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:95188777G>T ENST00000027335.3 - 5 540 c.416C>A c.(415-417)tCt>tAt p.S139Y CDH17_ENST00000450165.2_Missense_Mutation_p.S139Y|CDH17_ENST00000441892.2_Missense_Mutation_p.S139Y NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 139 Cadherin 2. integral to membrane calcium ion binding p.S139Y(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ACCTGGGCGAGAGTTCTGCCT 0.517000 45 130 1.38658e-30 2.54783e-30 0.003610 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6086641 6086641 + Nonsense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:6086641C>A ENST00000409021.3 - 5 1335 c.886G>T c.(886-888)Gaa>Taa p.E296* JAKMIP1_ENST00000409371.3_Nonsense_Mutation_p.E131*|JAKMIP1_ENST00000282924.5_Nonsense_Mutation_p.E296*|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Nonsense_Mutation_p.E296*|JAKMIP1_ENST00000410077.2_Nonsense_Mutation_p.E131* NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 296 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding p.E296*(2)|p.E296K(1) NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GAATTCAGTTCAGCAATTTTT 0.393000 92 376 2.14978e-47 4.12197e-47 0.003610 1 0 CD163L1 283316 broad.mit.edu 37 12 7531644 7531644 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:7531644C>A ENST00000313599.3 - 9 2358 c.2301G>T c.(2299-2301)tgG>tgT p.W767C CD163L1_ENST00000416109.2_Missense_Mutation_p.W777C|CD163L1_ENST00000396630.1_Missense_Mutation_p.W767C|CD163L1_ENST00000544331.1_5'UTR Q9NR16 C163B_HUMAN CD163 molecule-like 1 767 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.W767C(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GTATACAATCCCAGAGAGAGG 0.433000 12 65 5.35267e-07 6.68704e-07 0.007413 1 0 KCNK10 54207 broad.mit.edu 37 14 88729781 88729781 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:88729781A>T ENST00000340700.5 - 2 603 c.152T>A c.(151-153)gTg>gAg p.V51E KCNK10_ENST00000312350.5_Missense_Mutation_p.V56E|KCNK10_ENST00000319231.5_Missense_Mutation_p.V56E NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 51 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.V56E(2)|p.V51E(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CCTGGCTACCACTGTGGCTCG 0.627000 29 164 0 0 0.006230 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433091 73433091 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:73433091G>T ENST00000263666.4 - 10 2740 c.2626C>A c.(2626-2628)Cac>Aac p.H876N PDZRN3_ENST00000466780.1_Missense_Mutation_p.H533N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H593N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H533N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H598N NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 876 ubiquitin-protein ligase activity|zinc ion binding p.H876N(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGCTGGGCGTGCGCCGGGATG 0.647000 30 141 8.58068e-18 1.39121e-17 0.007291 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125281898 125281898 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:125281898G>T ENST00000431078.1 + 9 1707 c.1343G>T c.(1342-1344)gGc>gTc p.G448V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 448 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.G448V(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGAATGATGGCCTGTGGCAC 0.552000 32 64 6.04164e-23 1.06455e-22 0.002096 1 0 SLC9A2 6549 broad.mit.edu 37 2 103274287 103274287 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:103274287G>T ENST00000233969.2 + 2 696 c.554G>T c.(553-555)gGg>gTg p.G185V NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 185 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.G185V(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ATTGGCATTGGGGTGTCTTTG 0.493000 62 424 1.22119e-34 2.28197e-34 0.003610 1 0 NPR3 4883 broad.mit.edu 37 5 32739117 32739117 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:32739117G>T ENST00000265074.8 + 3 1383 c.1040G>T c.(1039-1041)gGg>gTg p.G347V NPR3_ENST00000434067.2_Missense_Mutation_p.G131V|NPR3_ENST00000415685.2_Missense_Mutation_p.G131V|NPR3_ENST00000415167.2_Missense_Mutation_p.G347V NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 347 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity p.G347V(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GAGAAACAAGGGCTCAATATG 0.433000 20 109 7.21436e-19 1.19607e-18 0.008871 1 0 UGT2B28 54490 broad.mit.edu 37 4 70156378 70156378 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:70156378G>T ENST00000335568.5 + 5 1161 c.1159G>T c.(1159-1161)Ggg>Tgg p.G387W UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 387 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G387W(1) 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) AATCTACCATGGGATCCCTAT 0.428000 11 83 3.07112e-06 3.67036e-06 0.000978 1 0 POTEE 445582 broad.mit.edu 37 2 132021567 132021567 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:132021567C>A ENST00000356920.5 + 15 2633 c.2539C>A c.(2539-2541)Cgt>Agt p.R847S PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 847 Actin-like. ATP binding p.R847S(1) CACCTCTGGCCGTACTACTGG 0.607000 119 270 1.65771e-47 3.19236e-47 0.003610 1 0 CSMD2 114784 broad.mit.edu 37 1 33992844 33992844 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:33992844C>A ENST00000373381.4 - 65 10362 c.10186G>T c.(10186-10188)Ggg>Tgg p.G3396W NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3252 integral to membrane|plasma membrane protein binding p.G3252W(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATGGGTCTCCCACTGGGCCGG 0.502000 19 101 3.99206e-14 6.04982e-14 0.007413 1 0 IRF4 3662 broad.mit.edu 37 6 394900 394900 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:394900G>A ENST00000380956.4 + 3 422 c.296G>A c.(295-297)tGc>tAc p.C99Y IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 99 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.C99Y(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CGCCTGCGGTGCGCTTTGAAC 0.547000 T IGH@ MM 29 201 0 0 0.002096 0 0 TRPM2 7226 broad.mit.edu 37 21 45825878 45825878 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr21:45825878C>A ENST00000397928.1 + 18 3193 c.2748C>A c.(2746-2748)atC>atA p.I916I TRPM2_ENST00000397932.2_Silent_p.I916I|TRPM2_ENST00000300481.9_Silent_p.I896I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.I916I NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 916 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.I916I(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTTTTACCATCAGTAAGACGC 0.652000 81 331 4.78148e-37 9.01126e-37 0.003610 1 0 HAL 3034 broad.mit.edu 37 12 96387882 96387882 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:96387882G>A ENST00000261208.3 - 5 765 c.397C>T c.(397-399)Cgc>Tgc p.R133C HAL_ENST00000538703.1_Missense_Mutation_p.R133C|HAL_ENST00000541929.1_De_novo_Start_InFrame NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 133 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity p.R133C(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) ATTTTGTAGCGTCCCTTTCCC 0.473000 150 536 0 0 0.003610 0 0 CHUK 1147 broad.mit.edu 37 10 101982738 101982738 + Splice_Site SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:101982738C>A ENST00000370397.7 - 3 287 c.e3-1 NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity p.?(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) ATGGTTCAACCTAATAAGAAA 0.348000 21 72 1.64113e-05 1.91466e-05 0.010504 1 0 ITCH 83737 broad.mit.edu 37 20 33001615 33001615 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:33001615G>T ENST00000374864.4 + 6 618 c.405G>T c.(403-405)ttG>ttT p.L135F ITCH_ENST00000262650.6_Missense_Mutation_p.L135F|ITCH_ENST00000535650.1_Missense_Mutation_p.L25F NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 135 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity p.L135F(1) NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 TAGGAGACTTGTCAATTTGTC 0.373000 17 77 9.16793e-09 1.21779e-08 0.004990 1 0 TAAR5 9038 broad.mit.edu 37 6 132910429 132910429 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:132910429G>T ENST00000258034.2 - 1 448 c.397C>A c.(397-399)Cac>Aac p.H133N NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 133 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.H133N(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) ATGGCACAGTGGCGGTCAATG 0.582000 26 50 1.55811e-20 2.66328e-20 0.008361 1 0 XIRP2 129446 broad.mit.edu 37 2 168115433 168115433 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:168115433G>C ENST00000409728.1 + 11 2565 c.2476G>C c.(2476-2478)Gtg>Ctg p.V826L XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826L|XIRP2_ENST00000409043.1_Missense_Mutation_p.V793L|XIRP2_ENST00000409756.2_Missense_Mutation_p.V793L|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571L|XIRP2_ENST00000409195.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding p.V826L(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGGCAGTCCTGTGCAGCCTGC 0.438000 3 11 0 0 0.004672 0 0 SLC22A6 9356 broad.mit.edu 37 11 62751813 62751813 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:62751813G>T ENST00000377871.3 - 1 616 c.350C>A c.(349-351)cCa>cAa p.P117Q SLC22A6_ENST00000421062.2_Missense_Mutation_p.P117Q|SLC22A6_ENST00000458333.2_Missense_Mutation_p.P117Q|SLC22A6_ENST00000360421.4_Missense_Mutation_p.P117Q NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 117 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.P117Q(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GATGGTAGATGGGAAGGTGCT 0.547000 27 185 3.33393e-15 5.17699e-15 0.004878 1 0 DMXL2 23312 broad.mit.edu 37 15 51780775 51780775 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr15:51780775T>C ENST00000251076.5 - 21 5308 c.5021A>G c.(5020-5022)aAg>aGg p.K1674R RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.K1038R|DMXL2_ENST00000543779.2_Missense_Mutation_p.K1674R NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1674 cell junction|synaptic vesicle membrane Rab GTPase binding p.K1674R(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGCTTTCTTCTTCATTGAAAG 0.353000 3 95 0 0 0.004672 0 0 NEK7 140609 broad.mit.edu 37 1 198225496 198225496 + Silent SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:198225496G>C ENST00000367383.1 + 4 421 c.237G>C c.(235-237)gcG>gcC p.A79A NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 79 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 GAGTGTGTGCGCTAAATGCAT 0.403000 4 24 0 0 0.000602 0 0 CETN2 1069 broad.mit.edu 37 X 151997693 151997693 + Splice_Site SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:151997693C>A ENST00000370277.3 - 3 357 c.291_splice c.e3+1 p.M97_splice CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 97 EF-hand 2. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding p.M97I(1)|p.?(1) breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) AGCTACTTACCATTTTCTGGG 0.403000 Direct reversal of damage;Nucleotide excision repair (NER) 36 67 2.2871e-25 4.13364e-25 0.007835 1 0 CBR3 874 broad.mit.edu 37 21 37518591 37518591 + Silent SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr21:37518591G>C ENST00000290354.5 + 3 896 c.615G>C c.(613-615)tcG>tcC p.S205S CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000413862.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 205 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding p.S205S(1) kidney(1)|large_intestine(1)|lung(1) 3 CGGTCTTATCGAGGATCCTGG 0.527000 15 76 0 0 0.004007 0 0 CECR1 51816 broad.mit.edu 37 22 17669245 17669245 + Missense_Mutation SNP G G T rs116020027 by1000genomes TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr22:17669245G>T ENST00000399839.1 - 7 1335 c.1065C>A c.(1063-1065)ttC>ttA p.F355L CECR1_ENST00000262607.3_Missense_Mutation_p.F355L|CECR1_ENST00000330232.4_Missense_Mutation_p.F114L|CECR1_ENST00000399837.2_Missense_Mutation_p.F355L|CECR1_ENST00000449907.2_Missense_Mutation_p.F313L Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 355 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding p.F114L(1)|p.F355L(1) endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CTCCGGCGTGGAAGAAGTAAG 0.602000 17 63 4.14922e-12 6.01909e-12 0.004007 1 0 FER1L6 654463 broad.mit.edu 37 8 124998416 124998416 + Splice_Site SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:124998416G>T ENST00000522917.1 + 12 1725 c.1519_splice c.e12+1 p.G507_splice FER1L6_ENST00000399018.1_Splice_Site_p.G507_splice|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 507 integral to membrane p.G507C(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGTTTCTATTGGTAAGTACAG 0.358000 15 86 7.93312e-07 9.79974e-07 0.002450 1 0 PDP1 54704 broad.mit.edu 37 8 94935758 94935758 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:94935758G>T ENST00000396200.3 + 3 1822 c.1546G>T c.(1546-1548)Gag>Tag p.E516* PDP1_ENST00000520728.1_Nonsense_Mutation_p.E491*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.E491*|PDP1_ENST00000297598.4_Nonsense_Mutation_p.E491* NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 491 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity p.E491*(1)|p.E516*(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 GGGCAACAACGAGTTTGGGAC 0.453000 56 136 1.04682e-39 1.98132e-39 0.003610 1 0 MAP1LC3C 440738 broad.mit.edu 37 1 242161853 242161853 + Nonsense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:242161853G>A ENST00000357246.3 - 3 248 c.184C>T c.(184-186)Cag>Tag p.Q62* NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 62 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding p.Q62*(1) endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) GTCAGCTCCTGCGGGACCAGG 0.617000 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 136 0 0 0.003163 0 0 BCOR 54880 broad.mit.edu 37 X 39933726 39933726 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:39933726C>T ENST00000342274.4 - 4 1235 c.873G>A c.(871-873)atG>atA p.M291I BCOR_ENST00000378444.4_Missense_Mutation_p.M291I|BCOR_ENST00000397354.3_Missense_Mutation_p.M291I|BCOR_ENST00000378455.4_Missense_Mutation_p.M291I NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 291 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.M291_G292>IC(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGCTGACGCCCATCTTCCACG 0.612000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 4 25 0 0 0.000602 0 0 FAT2 2196 broad.mit.edu 37 5 150946774 150946774 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:150946774G>A ENST00000261800.5 - 1 1731 c.1719C>T c.(1717-1719)atC>atT p.I573I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 573 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.I573I(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTCTTGGCGGATAGACCCTG 0.453000 39 80 0 0 0.008740 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32894028 32894028 + RNA SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:32894028G>A ENST00000330048.5 - 0 1229 NR_003083.2 CCAGGTAATAGAAGCCCCAGG 0.572000 12 57 0 0 0.004007 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 50 0.00909568 0.0096423 0.009096 1 0 ANGPTL2 23452 broad.mit.edu 37 9 129851286 129851286 + Nonsense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:129851286G>A ENST00000373425.3 - 5 2031 c.1414C>T c.(1414-1416)Cga>Tga p.R472* RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.R170*|RALGPS1_ENST00000259351.5_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 472 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding p.R472*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 GAGCCTCCTCGGAACTCAGCC 0.597000 67 236 0 0 0.003610 0 0 OR10A7 121364 broad.mit.edu 37 12 55615132 55615132 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:55615132C>A ENST00000326258.1 + 1 324 c.324C>A c.(322-324)ggC>ggA p.G108G NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G108G(1) endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TCTTCTTTGGCAGTTCTGAAT 0.428000 25 167 2.44723e-14 3.74732e-14 0.004656 1 0 RYR2 6262 broad.mit.edu 37 1 237895400 237895400 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:237895400C>T ENST00000366574.2 + 78 11307 c.10990C>T c.(10990-10992)Cta>Tta p.L3664L RYR2_ENST00000360064.6_Silent_p.L3662L|RYR2_ENST00000542537.1_Silent_p.L3648L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3664 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L3662L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGTTGATCCTCTACATCAGCT 0.398000 4 32 0 0 0.001168 0 0 FLG 2312 broad.mit.edu 37 1 152284188 152284188 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:152284188G>T ENST00000368799.1 - 3 3209 c.3174C>A c.(3172-3174)gtC>gtA p.V1058V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1058 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.V1058V(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTGTCTCTGACTGCAGATG 0.562000 Ichthyosis 427 844 4.17645e-142 8.22238e-142 0.003610 1 0 CAD 790 broad.mit.edu 37 2 27465587 27465587 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:27465587A>C ENST00000264705.4 + 41 6484 c.6322A>C c.(6322-6324)Agc>Cgc p.S2108R CAD_ENST00000403525.1_Missense_Mutation_p.S2045R NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2108 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.S2108R(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GGCACCTCCCAGCCTGCGCAT 0.647000 14 101 0 0 0.010504 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072677 17072677 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr22:17072677G>T ENST00000359963.3 - 1 1023 c.764C>A c.(763-765)gCa>gAa p.A255E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 255 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A255E(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGTTGCTGGTGCATTTGGATG 0.502000 53 174 4.96213e-28 9.08009e-28 0.003610 1 0 DTX2 113878 broad.mit.edu 37 7 76112259 76112259 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:76112259G>T ENST00000324432.5 + 5 1213 c.703G>T c.(703-705)Gct>Tct p.A235S DTX2_ENST00000307569.8_Missense_Mutation_p.A235S|DTX2_ENST00000446820.2_Missense_Mutation_p.A235S|DTX2_ENST00000430490.2_Missense_Mutation_p.A235S|DTX2_ENST00000446600.1_Missense_Mutation_p.A144S|DTX2_ENST00000413936.2_Missense_Mutation_p.A235S NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 235 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding p.A235S(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 ACACAGGACCGCTTCTGTGTT 0.662000 45 739 1.77355e-41 3.37128e-41 0.003610 1 0 SLC25A52 147407 broad.mit.edu 37 18 29340603 29340603 + Nonsense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:29340603C>A ENST00000269205.5 - 1 240 c.52G>T c.(52-54)Gaa>Taa p.E18* SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.E8* NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 8 transport integral to membrane|mitochondrial inner membrane p.E8*(1)|p.E18*(1) GGCCTCTTTTCATGAGCTTCT 0.398000 35 206 6.05902e-23 1.06455e-22 0.003755 1 0 DDR2 4921 broad.mit.edu 37 1 162748381 162748381 + Silent SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:162748381T>A ENST00000367922.2 + 18 2733 c.2295T>A c.(2293-2295)acT>acA p.T765T DDR2_ENST00000367921.3_Silent_p.T765T NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 765 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.T765T(1) central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCAAGTTCACTACAGCAAGTG 0.418000 56 317 0 0 0.003610 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 139 0 0 0.000602 0 0 CNTF 1270 broad.mit.edu 37 11 58391556 58391556 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:58391556G>T ENST00000361987.4 + 2 244 c.164G>T c.(163-165)gGg>gTg p.G55V ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 55 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding p.G55V(1) NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TCTGCGGATGGGATGCCAGTG 0.532000 20 72 1.56452e-12 2.29221e-12 0.007413 1 0 SMU1 55234 broad.mit.edu 37 9 33073725 33073725 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:33073725C>G ENST00000397149.3 - 2 156 c.106G>C c.(106-108)Gtg>Ctg p.V36L SMU1_ENST00000536631.1_Intron NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 36 LisH. cytoplasm|nucleus p.V36L(1) endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TTCAGAGACACAGTAGTCTCC 0.453000 17 110 0 0 0.004990 0 0 OR52I2 143502 broad.mit.edu 37 11 4608223 4608223 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:4608223C>A ENST00000312614.4 + 1 203 c.181C>A c.(181-183)Ctg>Atg p.L61M NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L61M(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTATCTCACTGAGTGCCAT 0.502000 52 237 8.28887e-21 1.43349e-20 0.003610 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766327 77766327 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:77766327C>A ENST00000521891.2 + 10 7618 c.7170C>A c.(7168-7170)ccC>ccA p.P2390P ZFHX4_ENST00000455469.2_Silent_p.P2345P|ZFHX4_ENST00000050961.6_Silent_p.P2345P|ZFHX4_ENST00000518282.1_Silent_p.P2364P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2345 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P2374P(1) 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) CCAGCACCCCCCTGATTCCAT 0.527000 HNSCC(33;0.089) 28 104 1.42536e-11 2.02768e-11 0.004656 1 0 PPFIA1 8500 broad.mit.edu 37 11 70118299 70118299 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:70118299G>T ENST00000253925.7 + 2 236 c.21G>T c.(19-21)ccG>ccT p.P7P PPFIA1_ENST00000389547.3_Silent_p.P7P NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 7 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.P7P(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGGTGATGCCGACCATCAGCG 0.498000 63 291 2.01871e-26 3.67873e-26 0.003610 1 0 ZNF208 7757 broad.mit.edu 37 19 22157392 22157392 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:22157392G>T ENST00000397126.4 - 4 592 c.444C>A c.(442-444)ggC>ggA p.G148G ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.G148G(3) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGCATATTTGCCACGTTGAA 0.333000 7 23 2.7689e-08 3.60202e-08 0.001984 1 0 ZNF425 155054 broad.mit.edu 37 7 148815345 148815345 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:148815345C>T ENST00000378061.2 - 2 246 c.114G>A c.(112-114)atG>atA p.M38I NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 38 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AATTGGTCTTCATCTCTTGCT 0.428000 9 398 0 0 0.008291 0 0 CCDC132 55610 broad.mit.edu 37 7 92921085 92921085 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:92921085G>T ENST00000544910.1 + 14 1143 c.923G>T c.(922-924)aGc>aTc p.S308I CCDC132_ENST00000535481.1_Missense_Mutation_p.S58I|CCDC132_ENST00000317751.6_Missense_Mutation_p.S69I|CCDC132_ENST00000541136.1_Missense_Mutation_p.S149I|CCDC132_ENST00000305866.5_Missense_Mutation_p.S338I NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 338 p.S338I(1) endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GTTATGCTCAGCTATTATAGG 0.353000 6 20 0.00198382 0.00213381 0.001984 1 0 ABCG8 64241 broad.mit.edu 37 2 44079961 44079961 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:44079961C>A ENST00000272286.2 + 6 1008 c.918C>A c.(916-918)gcC>gcA p.A306A NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 306 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.A306A(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATTTCACAGCCATCGGCTACC 0.602000 6 150 0.000274275 0.000304673 0.004482 1 0 TMEM132D 121256 broad.mit.edu 37 12 129566310 129566310 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:129566310G>T ENST00000422113.2 - 7 2243 c.1917C>A c.(1915-1917)acC>acA p.T639T TMEM132D_ENST00000389441.4_Silent_p.T177T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 639 integral to membrane p.T639T(1) 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) TTACCTGAATGGTGGTCATCC 0.493000 11 67 3.86212e-05 4.38968e-05 0.008291 1 0 TTC13 79573 broad.mit.edu 37 1 231052046 231052046 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:231052046C>A ENST00000366661.4 - 18 1993 c.1986G>T c.(1984-1986)caG>caT p.Q662H TTC13_ENST00000414259.1_Missense_Mutation_p.Q609H|TTC13_ENST00000366662.4_Splice_Site NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 662 binding p.Q662H(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TAGTATTAAACTGCTTTCAGG 0.393000 31 175 1.55811e-20 2.66328e-20 0.008361 1 0 GRIN2A 2903 broad.mit.edu 37 16 10031897 10031897 + Missense_Mutation SNP T T G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:10031897T>G ENST00000396573.2 - 4 1235 c.926A>C c.(925-927)aAg>aCg p.K309T GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 309 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.K309T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTAGGAGAACTTCTCCAGCAT 0.572000 7 58 0 0 0.001984 0 0 DNAH5 1767 broad.mit.edu 37 5 13885124 13885124 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:13885124T>A ENST00000265104.4 - 19 3061 c.2957A>T c.(2956-2958)cAt>cTt p.H986L CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 986 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.H986L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGAGAGGAATGAATACGTTT 0.443000 Kartagener syndrome 25 196 0 0 0.005443 0 0 RDH8 50700 broad.mit.edu 37 19 10132321 10132321 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:10132321G>T ENST00000591589.1 + 6 1081 c.892G>T c.(892-894)Gtg>Ttg p.V298L RDH8_ENST00000171214.1_Missense_Mutation_p.V278L Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 278 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity p.V278L(1) endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CAGCCTGTATGTGCGAACGAC 0.637000 31 66 4.14481e-20 7.0033e-20 0.006230 1 0 NTF3 4908 broad.mit.edu 37 12 5603704 5603704 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:5603704C>A ENST00000423158.3 + 2 575 c.363C>A c.(361-363)gaC>gaA p.D121E NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.D108E NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 108 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.D108E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TGCTGAGCGACAGCACCCCCT 0.627000 28 120 1.7367e-05 2.0208e-05 0.006320 1 0 HAVCR1 26762 broad.mit.edu 37 5 156469690 156469690 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:156469690C>A ENST00000339252.3 - 5 1317 c.785G>T c.(784-786)gGg>gTg p.G262V HAVCR1_ENST00000425854.1_Missense_Mutation_p.G262V|HAVCR1_ENST00000523175.1_Missense_Mutation_p.G262V|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.G262V|HAVCR1_ENST00000544197.1_Missense_Mutation_p.G262V NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 257 interspecies interaction between organisms integral to membrane receptor activity p.G262V(1) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGTCATTCCCATCTACTCA 0.343000 33 91 6.97489e-18 1.13503e-17 0.004878 1 0 FBXO10 26267 broad.mit.edu 37 9 37516063 37516063 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:37516063T>A ENST00000432825.2 - 10 2582 c.2534A>T c.(2533-2535)cAc>cTc p.H845L RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.H370L NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 845 ubiquitin ligase complex ubiquitin-protein ligase activity p.H851L(1) breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCGGAACGAGTGGATCCGGTT 0.552000 21 70 0 0 0.001882 0 0 ALPL 249 broad.mit.edu 37 1 21902329 21902329 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:21902329C>A ENST00000374840.3 + 10 1351 c.1101C>A c.(1099-1101)tcC>tcA p.S367S ALPL_ENST00000539907.1_Silent_p.S290S|ALPL_ENST00000374832.1_Silent_p.S367S|ALPL_ENST00000540617.1_Silent_p.S312S|ALPL_ENST00000374829.1_Silent_p.S13S|ALPL_ENST00000374830.1_Silent_p.S13S|ALPL_ENST00000425315.2_Silent_p.S367S NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 367 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding p.S367S(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GCTTGACCTCCTCGGAAGACA 0.597000 62 297 9.55688e-25 1.70631e-24 0.003610 1 0 PDE10A 10846 broad.mit.edu 37 6 165808673 165808673 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:165808673G>C ENST00000366882.1 - 16 1626 c.1472C>G c.(1471-1473)tCc>tGc p.S491C PDE10A_ENST00000354448.4_Missense_Mutation_p.S491C|PDE10A_ENST00000539869.2_Missense_Mutation_p.S501C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 491 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.S491C(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TTCATACCAGGATGTCCCACA 0.373000 5 27 0 0 0.001168 0 0 KRT82 3888 broad.mit.edu 37 12 52793777 52793777 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:52793777G>T ENST00000257974.2 - 5 1011 c.934C>A c.(934-936)Cag>Aag p.Q312K RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 312 Coil 2.|Rod. keratin filament protein binding|structural constituent of epidermis p.Q312K(1) endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) ACCCGGCACTGGTACCAGGCC 0.642000 26 113 8.16721e-17 1.30972e-16 0.002096 1 0 GORAB 92344 broad.mit.edu 37 1 170508612 170508612 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:170508612A>G ENST00000367763.3 + 2 418 c.398A>G c.(397-399)aAg>aGg p.K133R GORAB_ENST00000367762.1_Missense_Mutation_p.K133R|GORAB_ENST00000465717.1_3'UTR NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 133 Golgi apparatus|nucleus p.K133R(1) endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 AGTCAGCCAAAGGAACTGGGA 0.443000 22 50 0 0 0.002299 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458658 53458658 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:53458658C>A ENST00000331173.4 - 1 697 c.652G>T c.(652-654)Ggc>Tgc p.G218C PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 218 mRNA processing nucleus nucleotide binding|RNA binding p.G218C(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) AGCccagggccagggccaggg 0.542000 11 51 1.58986e-06 1.93682e-06 0.008291 1 0 LINC00518 221718 broad.mit.edu 37 6 10430114 10430114 + RNA SNP T T G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:10430114T>G ENST00000496285.1 - 0 921 NR_027793.1 TATACAGCATTCGCAGGTTAG 0.458000 OREG0017184 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 154 0 0 0.003610 0 0 OR4A16 81327 broad.mit.edu 37 11 55111191 55111191 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:55111191T>C ENST00000314721.2 + 1 565 c.515T>C c.(514-516)aTt>aCt p.I172T NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I172T(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CCCAATGTTATTGACCACTCT 0.448000 46 128 0 0 0.003610 0 0 SPATA5 166378 broad.mit.edu 37 4 123850195 123850195 + Splice_Site SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:123850195G>T ENST00000274008.3 + 3 358 c.288_splice c.e3-1 p.V97_splice SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 97 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity p.V97L(1) endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TGTCTGGCAGGTGTATACAGC 0.423000 4 22 3.07112e-06 3.67036e-06 0.000978 1 0 PREX1 57580 broad.mit.edu 37 20 47292735 47292735 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:47292735G>A ENST00000396220.1 - 14 1683 c.1661C>T c.(1660-1662)gCt>gTt p.A554V PREX1_ENST00000371941.3_Missense_Mutation_p.A554V Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 554 DEP 2. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.A554V(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCTCACCTGAGCCAGCAGCCA 0.517000 29 188 0 0 0.002096 0 0 ANO4 121601 broad.mit.edu 37 12 101436171 101436171 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:101436171T>A ENST00000392979.3 + 11 1335 c.974T>A c.(973-975)aTg>aAg p.M325K ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.M360K NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 360 chloride channel complex chloride channel activity p.M325K(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TACACCGGCATGCTCTTCCCA 0.488000 HNSCC(74;0.22) 25 90 0 0 0.004656 0 0 PADI6 353238 broad.mit.edu 37 1 17723626 17723626 + RNA SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:17723626G>C ENST00000434762.2 + 0 1729 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.E559Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GAAGCAGAATGAATACGTGGA 0.567000 11 45 0 0 0.001855 0 0 C6orf118 168090 broad.mit.edu 37 6 165715670 165715670 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:165715670C>A ENST00000230301.8 - 2 161 c.141G>T c.(139-141)cgG>cgT p.R47R C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 47 p.R47R(1) breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTTTCTGAAGCCGATTCAGAA 0.547000 51 117 1.35964e-18 2.229e-18 0.003610 1 0 CUL2 8453 broad.mit.edu 37 10 35333791 35333791 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:35333791C>A ENST00000374748.1 - 8 825 c.512G>T c.(511-513)cGt>cTt p.R171L CUL2_ENST00000374751.3_Missense_Mutation_p.R171L|CUL2_ENST00000374746.1_Missense_Mutation_p.R171L|CUL2_ENST00000374749.3_Missense_Mutation_p.R171L|CUL2_ENST00000537177.1_Missense_Mutation_p.R190L|CUL2_ENST00000602371.1_Missense_Mutation_p.R114L|CUL2_ENST00000374742.1_Missense_Mutation_p.R171L Q13617 CUL2_HUMAN cullin 2 171 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding p.R171L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 TTCTCCACCACGATCACTAAA 0.333000 11 66 9.70103e-10 1.32451e-09 0.008291 1 0 GPC2 221914 broad.mit.edu 37 7 99773222 99773222 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:99773222C>G ENST00000292377.2 - 3 788 c.621G>C c.(619-621)ggG>ggC p.G207G NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 207 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.G207G(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGTGAGTCCCCAAAGGGCT 0.622000 6 31 0 0 0.001984 0 0 MYT1L 23040 broad.mit.edu 37 2 1926245 1926245 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:1926245G>T ENST00000399161.2 - 10 2043 c.1296C>A c.(1294-1296)acC>acA p.T432T MYT1L_ENST00000428368.2_Silent_p.T432T NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 432 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T432T(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) TCTCCAGCAGGGTCAGGTTCC 0.547000 43 163 2.95478e-19 4.93582e-19 0.008740 1 0 MMP13 4322 broad.mit.edu 37 11 102818698 102818698 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:102818698T>C ENST00000260302.3 - 8 1161 c.1133A>G c.(1132-1134)gAa>gGa p.E378G MMP13_ENST00000340273.4_Missense_Mutation_p.E378G NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 378 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.E378G(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CTTCTTAACTTCTTTTGGAAG 0.413000 6 72 0 0 0.001168 0 0 C1orf94 84970 broad.mit.edu 37 1 34663245 34663245 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:34663245C>A ENST00000488417.1 + 2 860 c.740C>A c.(739-741)tCc>tAc p.S247Y C1orf94_ENST00000373374.3_Missense_Mutation_p.S57Y NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 57 protein binding p.S57Y(1)|p.S247Y(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCACTGAAGTCCACTGAGACA 0.562000 22 98 3.62473e-10 4.97977e-10 0.001882 1 0 NRXN2 9379 broad.mit.edu 37 11 64390552 64390552 + Splice_Site SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:64390552T>A ENST00000265459.6 - 21 4309 c.e21-2 NRXN2_ENST00000377551.1_Splice_Site|NRXN2_ENST00000409571.1_Splice_Site|NRXN2_ENST00000301894.2_Splice_Site|NRXN2_ENST00000377559.3_Splice_Site NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 cell adhesion integral to membrane metal ion binding p.?(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GCTGGCGGCCTTGCaggagtg 0.612000 4 15 0 0 0.009096 0 0 AMER3 205147 broad.mit.edu 37 2 131519727 131519727 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:131519727G>T ENST00000423981.1 + 2 192 c.82G>T c.(82-84)Gct>Tct p.A28S AMER3_ENST00000321420.4_Missense_Mutation_p.A28S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.A28S(1) AGCAGCCGTGGCTGCAGCCAG 0.642000 3 19 1.06961e-07 1.37122e-07 0.003080 1 0 PMS1 5378 broad.mit.edu 37 2 190719014 190719014 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:190719014C>T ENST00000441310.2 + 9 1249 c.1016C>T c.(1015-1017)cCa>cTa p.P339L PMS1_ENST00000409823.3_Missense_Mutation_p.P300L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.P339L|PMS1_ENST00000418224.3_Missense_Mutation_p.P163L|PMS1_ENST00000432292.3_Missense_Mutation_p.P163L NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 339 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding p.P339L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TGTTATGGACCATTACCTAGT 0.294000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 4 29 0 0 0.009096 0 0 IGHG2 3501 broad.mit.edu 37 14 106110952 106110952 + RNA SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:106110952G>T ENST00000390545.2 - 0 175 GAGTCCTGAGGACTGTAGGAC 0.622000 9 98 2.17888e-05 2.51541e-05 0.006214 1 0 SPTA1 6708 broad.mit.edu 37 1 158636191 158636191 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:158636191G>C ENST00000368148.3 - 16 2315 c.2135C>G c.(2134-2136)tCt>tGt p.S712C SPTA1_ENST00000368147.3_Missense_Mutation_p.S712C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 712 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.S712C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATAATCCTCAGAGGTGACTTG 0.542000 13 33 0 0 0.001368 0 0 ANKRD54 129138 broad.mit.edu 37 22 38229004 38229004 + Silent SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr22:38229004A>G ENST00000215941.4 - 6 873 c.681T>C c.(679-681)caT>caC p.H227H ANKRD54_ENST00000411961.2_Silent_p.H211H|ANKRD54_ENST00000406423.1_Silent_p.H107H|ANKRD54_ENST00000498417.1_5'UTR NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 227 p.H227H(1) lung(1) 1 Melanoma(58;0.045) GGCACTGGGCATGGCCCTCCT 0.622000 27 82 0 0 0.003271 0 0 IGFBP6 3489 broad.mit.edu 37 12 53494882 53494882 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:53494882C>A ENST00000548547.1 + 3 814 c.532C>A c.(532-534)Cga>Aga p.R178R IGFBP6_ENST00000301464.3_Silent_p.R180R|IGFBP6_ENST00000549628.1_3'UTR P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 180 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction p.R180R(1) large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 TGAGGTCTACCGAGGGGCTCA 0.572000 25 113 1.2476e-16 1.99345e-16 0.006320 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798258 55798258 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:55798258C>T ENST00000313555.1 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 122 R -> L (in dbSNP:rs12224086). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(3) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GGCTTATGACCGCTATGCAGC 0.458000 7 44 0 0 0.003080 0 0 PADI6 353238 broad.mit.edu 37 1 17723578 17723578 + RNA SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:17723578A>G ENST00000434762.2 + 0 1681 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.K543E(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AAGGGAAGCCAAAACCATCGA 0.587000 6 37 0 0 0.001984 0 0 RBM15 64783 broad.mit.edu 37 1 110882449 110882449 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:110882449G>T ENST00000369784.3 + 1 1322 c.422G>T c.(421-423)cGc>cTc p.R141L RBM15_ENST00000602849.1_Missense_Mutation_p.R141L|RBM15_ENST00000487146.2_Missense_Mutation_p.R141L NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 141 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding p.R141L(1) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GGCGAATCGCGCAGCAGCTCC 0.652000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 52 0.00188189 0.0020341 0.001882 1 0 TTN 7273 broad.mit.edu 37 2 179449825 179449825 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:179449825G>T ENST00000589042.1 - 309 64870 c.64646C>A c.(64645-64647)aCt>aAt p.T21549N TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T12484N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T12609N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T18981N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T19908N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T12676N|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19908 Fibronectin type-III 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T18979N(1)|p.T12484N(1)|p.T12609N(1)|p.T18981N(1)|p.T12676N(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATTTTCTGAGTGTCTGTCCC 0.373000 69 328 4.98926e-31 9.20612e-31 0.003610 1 0 SERPINB3 6317 broad.mit.edu 37 18 61323052 61323052 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:61323052C>G ENST00000283752.5 - 8 1155 c.1012G>C c.(1012-1014)Gag>Cag p.E338Q SERPINB3_ENST00000332821.8_Missense_Mutation_p.E286Q|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 338 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.E338Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 GCTCCCTCCTCTGTAACCTCC 0.517000 11 50 0 0 0.003163 0 0 BTBD11 121551 broad.mit.edu 37 12 107914368 107914368 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:107914368G>T ENST00000280758.5 + 2 1768 c.1240G>T c.(1240-1242)Gag>Tag p.E414* BTBD11_ENST00000490090.2_Nonsense_Mutation_p.E414*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.E414* NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 414 integral to membrane DNA binding p.E414*(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GAGGACCATCGAGCAGTCTTT 0.557000 26 109 7.41945e-09 9.88513e-09 0.005443 1 0 OR4K17 390436 broad.mit.edu 37 14 20586080 20586080 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:20586080G>A ENST00000315543.4 + 1 515 c.515G>A c.(514-516)tGt>tAt p.C172Y NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C172Y(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) AAGAAGGTATGTGTTTTGCTT 0.463000 16 110 0 0 0.004007 0 0 OR2T33 391195 broad.mit.edu 37 1 248436623 248436623 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:248436623G>T ENST00000318021.2 - 1 515 c.494C>A c.(493-495)cCa>cAa p.P165Q NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P165Q(2) NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACCACAATATGGGAAGCTCAG 0.562000 19 133 2.4624e-09 3.32085e-09 0.008871 1 0 VPS13C 54832 broad.mit.edu 37 15 62174899 62174899 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr15:62174899G>T ENST00000261517.5 - 69 9593 c.9520C>A c.(9520-9522)Cct>Act p.P3174T VPS13C_ENST00000249837.3_Missense_Mutation_p.P3131T|VPS13C_ENST00000395898.3_Missense_Mutation_p.P3131T|VPS13C_ENST00000395896.4_Missense_Mutation_p.P3174T NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3174 protein localization p.P3174T(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTACGAATAGGGAGGCGCATT 0.373000 20 57 7.92952e-12 1.13906e-11 0.003954 1 0 RGS14 10636 broad.mit.edu 37 5 176799028 176799028 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:176799028C>T ENST00000408923.3 + 15 1841 c.1653C>T c.(1651-1653)gcC>gcT p.A551A RGS14_ENST00000506944.1_3'UTR NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 551 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity p.A551A(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AATCAGCAGCCCAGCCCATCG 0.627000 11 510 0 0 0.008291 0 0 GPR50 9248 broad.mit.edu 37 X 150348520 150348520 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:150348520G>T ENST00000218316.3 + 2 534 c.465G>T c.(463-465)atG>atT p.M155I NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 155 cell-cell signaling integral to plasma membrane melatonin receptor activity p.M155I(3) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCTGGATCATGACCGTCCTGG 0.517000 64 80 2.50483e-33 4.6413e-33 0.003610 1 0 OR56A3 390083 broad.mit.edu 37 11 5969347 5969347 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:5969347C>A ENST00000329564.6 + 1 778 c.771C>A c.(769-771)acC>acA p.T257T NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T257T(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCAGCACCATCCTTCTGG 0.527000 51 204 9.55421e-19 1.57805e-18 0.003610 1 0 FAT3 120114 broad.mit.edu 37 11 92086706 92086706 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:92086706G>T ENST00000298047.6 + 1 1445 c.1428G>T c.(1426-1428)ctG>ctT p.L476L FAT3_ENST00000541502.1_Silent_p.L476L|FAT3_ENST00000525166.1_Silent_p.L326L|FAT3_ENST00000409404.2_Silent_p.L476L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 476 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.L476L(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCAACCACTGTATGATGCTT 0.418000 TCGA Ovarian(4;0.039) 7 22 0.000442599 0.000487966 0.006214 1 0 PALD1 27143 broad.mit.edu 37 10 72291088 72291088 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:72291088C>A ENST00000263563.6 + 5 779 c.511C>A c.(511-513)Ctg>Atg p.L171M NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 p.L171M(1) TGTGCTTTTCCTGCGTGCAGA 0.587000 43 180 3.05275e-18 4.98615e-18 0.003214 1 0 ENSA 2029 broad.mit.edu 37 1 150601933 150601933 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:150601933T>C ENST00000271690.8 - 1 120 c.14A>G c.(13-15)cAa>cGa p.Q5R ENSA_ENST00000369009.3_Missense_Mutation_p.Q5R|ENSA_ENST00000369016.4_Missense_Mutation_p.Q5R|ENSA_ENST00000369014.5_Missense_Mutation_p.Q5R|ENSA_ENST00000362052.7_Missense_Mutation_p.Q5R|ENSA_ENST00000356527.5_Missense_Mutation_p.Q5R|ENSA_ENST00000503241.1_Missense_Mutation_p.Q5R|ENSA_ENST00000503345.1_Missense_Mutation_p.Q5R|ENSA_ENST00000339643.5_Missense_Mutation_p.Q5R NM_207044.1 NP_996927.1 O43768 ENSA_HUMAN endosulfine alpha 5 Q -> R (in Ref. 8; CAG38815). cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport cytoplasm ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding p.Q5R(2) breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) CTCTTCTTCTTGTTTCTGGGA 0.662000 16 126 0 0 0.007291 0 0 PKP2 5318 broad.mit.edu 37 12 32949210 32949210 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:32949210C>G ENST00000340811.4 - 11 2298 c.2190G>C c.(2188-2190)ttG>ttC p.L730F PKP2_ENST00000070846.6_Missense_Mutation_p.L774F NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 774 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.L774F(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGATGGAAACCAAATCAGGGA 0.363000 11 66 0 0 0.000978 0 0 LRP1B 53353 broad.mit.edu 37 2 141643727 141643727 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:141643727C>T ENST00000389484.3 - 24 4915 c.3944G>A c.(3943-3945)gGa>gAa p.G1315E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1315 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G1315E(1) 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) AGAAAGCTTTCCCCGGTATAT 0.303000 TSP Lung(27;0.18) 6 47 0 0 0.001168 0 0 CHERP 10523 broad.mit.edu 37 19 16640580 16640580 + Silent SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:16640580T>C ENST00000546361.2 - 8 1159 c.1008A>G c.(1006-1008)caA>caG p.Q336Q CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 336 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding p.Q336Q(2) endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgctgttgctgctgct 0.667000 2 7 0 0 0.004672 0 0 INTU 27152 broad.mit.edu 37 4 128637582 128637582 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:128637582A>T ENST00000335251.5 + 16 2923 c.2820A>T c.(2818-2820)ttA>ttT p.L940F NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 940 p.L940F(1) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TCTTTGGGTTAACCTTGTAGC 0.363000 10 36 0 0 0.000978 0 0 SLC11A2 4891 broad.mit.edu 37 12 51382191 51382191 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:51382191T>C ENST00000394904.3 - 16 1739 c.1690A>G c.(1690-1692)Atg>Gtg p.M564V SLC11A2_ENST00000545993.2_Missense_Mutation_p.M531V|SLC11A2_ENST00000262051.7_Missense_Mutation_p.M535V|SLC11A2_ENST00000262052.5_Missense_Mutation_p.M535V|SLC11A2_ENST00000547198.1_Missense_Mutation_p.M535V|SLC11A2_ENST00000546743.1_Missense_Mutation_p.M456V|SLC11A2_ENST00000541174.2_Missense_Mutation_p.M535V|SLC11A2_ENST00000547688.1_Missense_Mutation_p.M564V NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 535 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity p.M535V(1) breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 AGGAAGGACATGCCCAGTGCA 0.483000 21 71 0 0 0.001882 0 0 RELN 5649 broad.mit.edu 37 7 103193923 103193923 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:103193923G>A ENST00000424685.2 - 40 6216 c.6057C>T c.(6055-6057)acC>acT p.T2019T RELN_ENST00000343529.5_Silent_p.T2019T|RELN_ENST00000428762.1_Silent_p.T2019T P78509 RELN_HUMAN reelin 2019 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.T2019T(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTGTATGATGGTGTTCTCAT 0.348000 26 79 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179429587 179429587 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:179429587A>G ENST00000589042.1 - 326 81496 c.81272T>C c.(81271-81273)gTg>gCg p.V27091A TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18026A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18151A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24523A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25450A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18218A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25450 Fibronectin type-III 97. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V24521A(1)|p.V24523A(1)|p.V18026A(1)|p.V18218A(1)|p.V18151A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGCCATTGCACAAGCATCTG 0.388000 16 64 0 0 0.004007 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206297 71206297 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:71206297G>A ENST00000272421.6 + 2 507 c.241G>A c.(241-243)Gcc>Acc p.A81T ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000360589.3_Missense_Mutation_p.A81T|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 81 p.A81T(2) endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 GCGCCGCCCTGCCTCGCTCAC 0.726000 11 122 0 0 0.008291 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846409 47846409 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:47846409A>T ENST00000339488.4 - 3 2204 c.2171T>A c.(2170-2172)tTc>tAc p.F724Y NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 724 integral to membrane hedgehog receptor activity p.F724Y(1) GTCAATGGCGAAATTCAAGGT 0.448000 14 38 0 0 0.002450 0 0 SRPK2 6733 broad.mit.edu 37 7 104767464 104767464 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:104767464C>A ENST00000357311.3 - 13 1936 c.1765G>T c.(1765-1767)Ggg>Tgg p.G589W SRPK2_ENST00000489828.1_Missense_Mutation_p.G589W|SRPK2_ENST00000393651.3_Missense_Mutation_p.G600W NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 589 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.G589W(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 TAGTCTTCCCCAGAATGTGGT 0.478000 18 166 1.26454e-06 1.55338e-06 0.005443 1 0 MYO19 80179 broad.mit.edu 37 17 34859855 34859855 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:34859855C>A ENST00000431794.3 - 20 2433 c.1911G>T c.(1909-1911)ctG>ctT p.L637L MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 637 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity p.L637L(2) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CCAGCTGGCTCAGGACCTGCA 0.632000 4 13 0.00024832 0.000277942 0.009096 1 0 DSG4 147409 broad.mit.edu 37 18 28979469 28979469 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:28979469A>G ENST00000359747.4 + 9 1269 c.1240A>G c.(1240-1242)Ata>Gta p.I414V DSG4_ENST00000308128.4_Missense_Mutation_p.I414V|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 414 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.I414V(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATATACAGCCATAGATTTGGA 0.408000 16 68 0 0 0.004007 0 0 PDE6C 5146 broad.mit.edu 37 10 95394518 95394518 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:95394518G>T ENST00000371447.3 + 9 1261 c.1123G>T c.(1123-1125)Gga>Tga p.G375* NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 375 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.G375*(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TTTGTAGAAAGGACCTGTAGA 0.353000 12 58 1.08611e-07 1.38833e-07 0.000978 1 0 OR5H2 79310 broad.mit.edu 37 3 98002178 98002178 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:98002178G>T ENST00000355273.2 + 1 447 c.447G>T c.(445-447)ctG>ctT p.L149L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L149L(1) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GCATACGGCTGTTAGCCTTCT 0.353000 10 35 2.17888e-05 2.51541e-05 0.006214 1 0 EXOC3 11336 broad.mit.edu 37 5 458042 458042 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:458042G>C ENST00000512944.1 + 6 1381 c.1192G>C c.(1192-1194)Gcg>Ccg p.A398P EXOC3_ENST00000315013.5_Missense_Mutation_p.A398P NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 409 exocytosis|protein transport p.A398P(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GCTGCGGAAAGCGCTGGAGAC 0.527000 5 24 0 0 0.001984 0 0 ZNF845 91664 broad.mit.edu 37 19 53855116 53855116 + Silent SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:53855116A>T ENST00000458035.1 + 4 1305 c.1188A>T c.(1186-1188)tcA>tcT p.S396S ZNF845_ENST00000595091.1_Silent_p.S396S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S396S(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTCGGAAGTCATCCCTTACAC 0.403000 7 98 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9048356 9048356 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:9048356G>T ENST00000397910.4 - 5 33478 c.33275C>A c.(33274-33276)cCt>cAt p.P11092H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11094 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P6725H(1)|p.P11092H(1) 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 TGATACCCCAGGTGAAACAGT 0.502000 17 69 1.67942e-08 2.21743e-08 0.006122 1 0 USP1 7398 broad.mit.edu 37 1 62913035 62913035 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:62913035C>G ENST00000339950.4 + 7 2088 c.1273C>G c.(1273-1275)Cta>Gta p.L425V USP1_ENST00000371146.1_Missense_Mutation_p.L425V NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 425 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.L425V(1) breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TGGTTTTGAGCTAGTGGAGAA 0.323000 3 91 0 0 0.004672 0 0 GRM7 2917 broad.mit.edu 37 3 7620535 7620535 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:7620535G>A ENST00000486284.1 + 8 2216 c.1942G>A c.(1942-1944)Gcc>Acc p.A648T GRM7_ENST00000403881.1_Missense_Mutation_p.A648T|GRM7_ENST00000357716.4_Missense_Mutation_p.A648T|GRM7_ENST00000389336.4_Missense_Mutation_p.A648T|GRM7_ENST00000402647.2_Missense_Mutation_p.A648T|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 648 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.A648T(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CCTGATGATTGCCAAACCAGA 0.478000 12 191 0 0 0.001855 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455094 84455094 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr13:84455094G>C ENST00000377084.2 - 1 1434 c.549C>G c.(547-549)gaC>gaG p.D183E NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 183 integral to membrane p.D183E(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TACCCCGGAGGTCGAGGTGGG 0.527000 26 119 0 0 0.005443 0 0 SSPO 23145 broad.mit.edu 37 7 149475980 149475980 + RNA SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:149475980T>A ENST00000378016.2 + 0 946 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCACGAGCTCTGGGGACAGAC 0.622000 35 189 0 0 0.007835 0 0 LGALS13 29124 broad.mit.edu 37 19 40097972 40097972 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:40097972G>T ENST00000221797.4 + 4 458 c.413G>T c.(412-414)tGc>tTc p.C138F NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 138 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding p.C138F(1) lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GTGTGTGTCTGCAATTGAGGG 0.478000 23 60 3.6726e-16 5.82596e-16 0.003954 1 0 C4orf21 55345 broad.mit.edu 37 4 113541279 113541279 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:113541279C>A ENST00000505019.1 - 5 355 c.230G>T c.(229-231)gGa>gTa p.G77V C4orf21_ENST00000445203.2_Missense_Mutation_p.G46V|C4orf21_ENST00000309071.5_Missense_Mutation_p.G77V NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 77 p.G77V(2) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ACCTATGGCTCCAGCAACTTT 0.383000 10 67 5.50884e-06 6.56594e-06 0.001368 1 0 ATP7A 538 broad.mit.edu 37 X 77254174 77254174 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:77254174G>T ENST00000341514.6 + 5 1691 c.1536G>T c.(1534-1536)cgG>cgT p.R512R ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.R512R NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 512 HMA 5. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.R512R(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATTTAAGGCGGGAAGAAGGTG 0.393000 17 56 3.32936e-07 4.20701e-07 0.006122 1 0 ZNF143 7702 broad.mit.edu 37 11 9534020 9534020 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:9534020G>T ENST00000396602.2 + 13 1520 c.1401G>T c.(1399-1401)ggG>ggT p.G467G ZNF143_ENST00000299606.2_Silent_p.G439G|ZNF143_ENST00000396604.1_Silent_p.G466G|ZNF143_ENST00000530463.1_Silent_p.G466G|ZNF143_ENST00000396597.3_Silent_p.G436G NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 467 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding p.G467G(1) endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) TTCTTAAAGGGTCCCAGATTA 0.363000 48 194 5.39261e-20 9.07688e-20 0.003610 1 0 ASPH 444 broad.mit.edu 37 8 62580819 62580819 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:62580819A>C ENST00000389204.4 - 5 381 c.296T>G c.(295-297)gTa>gGa p.V99G ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.V84G|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000522835.1_Intron NM_020164.4 NP_064549.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 109 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle p.V99G(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TCTCTTGGCTACCCCACTGGG 0.303000 2 9 0 0 0.004672 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457421 110457421 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:110457421G>C ENST00000378402.5 + 38 5427 c.5323G>C c.(5323-5325)Gtt>Ctt p.V1775L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1775 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity p.V1777L(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGGGGACTGTTTTGGAGGA 0.403000 HNSCC(38;0.096) 5 56 0 0 0.001168 0 0 GORAB 92344 broad.mit.edu 37 1 170513848 170513848 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:170513848C>T ENST00000367763.3 + 4 619 c.599C>T c.(598-600)tCc>tTc p.S200F GORAB_ENST00000367762.1_Missense_Mutation_p.S200F NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 200 Golgi apparatus|nucleus p.S200F(1) endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TTTTCTAGATCCAAAAGAACT 0.383000 9 84 0 0 0.004482 0 0 SHOX2 6474 broad.mit.edu 37 3 157815836 157815836 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:157815836C>T ENST00000490689.2 - 5 2086 c.553G>A c.(553-555)Gcc>Acc p.A185T SHOX2_ENST00000389589.4_Missense_Mutation_p.A350T|SHOX2_ENST00000441443.2_Missense_Mutation_p.A185T|SHOX2_ENST00000425436.3_Missense_Mutation_p.A326T|SHOX2_ENST00000483851.2_Missense_Mutation_p.A314T O60902 SHOX2_HUMAN short stature homeobox 2 326 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A350T(1)|p.A185T(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) AGGGCTGCGGCGTGCTTTTTG 0.667000 37 764 0 0 0.003610 0 0 SLC4A5 57835 broad.mit.edu 37 2 74452074 74452074 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:74452074G>T ENST00000394019.2 - 28 3536 c.3139C>A c.(3139-3141)Cag>Aag p.Q1047K SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P987Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Q1063K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q945K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q966K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q945K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q1063K|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q966K NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1063 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.Q1063K(1)|p.Q1047K(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGGTCGTGCTGGGAAAAGATG 0.478000 24 159 8.24728e-16 1.29895e-15 0.004656 1 0 PCDHB12 56124 broad.mit.edu 37 5 140590616 140590616 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:140590616C>A ENST00000239450.2 + 1 2326 c.2137C>A c.(2137-2139)Ctg>Atg p.L713M PCDHB12_ENST00000541609.1_Missense_Mutation_p.L376M NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 713 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L713M(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGGTGCGGCTGTGCAGGAG 0.682000 131 149 2.02395e-77 3.96695e-77 0.003610 1 0 DNPEP 23549 broad.mit.edu 37 2 220251413 220251413 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:220251413C>T ENST00000273075.4 - 4 527 c.307G>A c.(307-309)Gcc>Acc p.A103T DNPEP_ENST00000523282.1_Missense_Mutation_p.A111T|DNPEP_ENST00000373972.1_Missense_Mutation_p.A28T NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 93 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TCCGTGTGGGCCCCGATGAGG 0.577000 5 30 0 0 0.001168 0 0 FKBP10 60681 broad.mit.edu 37 17 39974501 39974501 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:39974501C>A ENST00000321562.4 + 3 656 c.552C>A c.(550-552)acC>acA p.T184T NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 184 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.T184T(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) ACAATGGCACCCTGCTGGACG 0.672000 17 74 2.35188e-11 3.31367e-11 0.006122 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810239 106810239 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:106810239G>A ENST00000526355.1 - 4 1621 c.1153C>T c.(1153-1155)Ccg>Tcg p.P385S GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P385S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P385S NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 385 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.P385S(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ATCACAAACGGGGTAGACAGT 0.458000 14 92 0 0 0.002450 0 0 TM2D2 83877 broad.mit.edu 37 8 38851131 38851131 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:38851131G>A ENST00000412303.1 - 3 629 c.235C>T c.(235-237)Cat>Tat p.H79Y TM2D2_ENST00000456397.2_Missense_Mutation_p.H122Y|TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Missense_Mutation_p.H79Y|TM2D2_ENST00000397070.2_Missense_Mutation_p.H79Y NM_001024380.1|NM_001024381.1|NM_031940.3 NP_001019551.1|NP_001019552.1|NP_114146.3 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 122 integral to membrane p.H79Y(1)|p.H122Y(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TCTAAGGCATGGCACTGGACT 0.453000 4 73 0 0 0.000602 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806979 6806979 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:6806979C>A ENST00000307401.4 + 1 732 c.711C>A c.(709-711)gcC>gcA p.A237A NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A237A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGAAGAAAGCCCTTGTCACCT 0.498000 23 81 1.50039e-11 2.12756e-11 0.001882 1 0 SP4 6671 broad.mit.edu 37 7 21470206 21470206 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:21470206C>A ENST00000222584.3 + 3 1641 c.1423C>A c.(1423-1425)Cag>Aag p.Q475K NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 475 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding p.Q475K(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 TGTACAGGTTCAGAATATTCA 0.433000 39 348 9.62906e-15 1.48476e-14 0.006230 1 0 SETBP1 26040 broad.mit.edu 37 18 42530189 42530189 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:42530189G>T ENST00000282030.5 + 4 1180 c.884G>T c.(883-885)aGc>aTc p.S295I NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 295 nucleus DNA binding p.S241I(1)|p.S295I(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TCCCCAAGCAGCCACAGCTCA 0.567000 Schinzel-Giedion syndrome 23 79 2.48779e-11 3.48291e-11 0.005443 1 0 GRIA3 2892 broad.mit.edu 37 X 122319800 122319800 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:122319800G>C ENST00000264357.5 + 2 518 c.226G>C c.(226-228)Gat>Cat p.D76H GRIA3_ENST00000542149.1_Missense_Mutation_p.D76H|GRIA3_ENST00000371264.3_Missense_Mutation_p.D76H|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371266.1_Missense_Mutation_p.D76H|GRIA3_ENST00000371256.5_Missense_Mutation_p.D76H|GRIA3_ENST00000371251.1_Missense_Mutation_p.D76H|GRIA3_ENST00000541091.1_Missense_Mutation_p.D60H NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 76 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.D76H(3) breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TTACCACGTAGATCACTTGGA 0.468000 12 63 0 0 0.000978 0 0 PDP1 54704 broad.mit.edu 37 8 94935757 94935757 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:94935757C>T ENST00000396200.3 + 3 1821 c.1545C>T c.(1543-1545)aaC>aaT p.N515N PDP1_ENST00000520728.1_Silent_p.N490N|PDP1_ENST00000517764.1_Silent_p.N490N|PDP1_ENST00000297598.4_Silent_p.N490N NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 490 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity p.E491*(1)|p.E516*(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 TGGGCAACAACGAGTTTGGGA 0.453000 56 135 0 0 0.003610 0 0 LTBP1 4052 broad.mit.edu 37 2 33590483 33590483 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:33590483G>C ENST00000404816.2 + 31 4977 c.4624G>C c.(4624-4626)Ggc>Cgc p.G1542R LTBP1_ENST00000390003.4_Missense_Mutation_p.G1217R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1543R|LTBP1_ENST00000272273.5_Missense_Mutation_p.G440R|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1161R|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1216R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1163R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1174R Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1542 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.G1543R(1)|p.G1543S(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCCTCTTGTGGGCAAGCAGAC 0.507000 20 91 0 0 0.007413 0 0 MYEOV 26579 broad.mit.edu 37 11 69063537 69063537 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:69063537G>T ENST00000535407.1 + 2 1089 c.446G>T c.(445-447)gGg>gTg p.G149V MYEOV_ENST00000441339.2_Missense_Mutation_p.G207V|MYEOV_ENST00000308946.3_Missense_Mutation_p.G207V Q96EZ4 MYEOV_HUMAN myeloma overexpressed 207 p.G207V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) CGCTCACCTGGGCGAGGACTT 0.617000 41 191 1.32136e-16 2.10367e-16 0.008740 1 0 OR4D6 219983 broad.mit.edu 37 11 59224871 59224871 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:59224871G>A ENST00000300127.2 + 1 461 c.438G>A c.(436-438)gtG>gtA p.V146V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V146V(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CCTTGGTGGTGGCTTCTTGGG 0.507000 31 206 0 0 0.002836 0 0 TP53 7157 broad.mit.edu 37 17 7578492 7578492 + Nonsense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:7578492C>T ENST00000420246.2 - 5 570 c.438G>A c.(436-438)tgG>tgA p.W146* TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 146 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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) TGGAATCAACCCACAGCTGCA 0.602000 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) 32 81 0 0 0.002836 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454311 84454311 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr13:84454311C>A ENST00000377084.2 - 1 2217 c.1332G>T c.(1330-1332)gcG>gcT p.A444A NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 444 integral to membrane p.A444A(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TTTGCAGCCCCGCGAATTTCT 0.507000 48 171 2.24722e-20 3.82635e-20 0.003610 1 0 C12orf40 283461 broad.mit.edu 37 12 40076707 40076707 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:40076707G>T ENST00000324616.5 + 8 1135 c.981G>T c.(979-981)atG>atT p.M327I C12orf40_ENST00000398716.1_Missense_Mutation_p.M250I|C12orf40_ENST00000405531.3_Missense_Mutation_p.M327I NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 327 p.M327N(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ATGATAGTATGGGAGATACTT 0.308000 7 46 0.00198382 0.00213381 0.001984 1 0 OR9G1 390174 broad.mit.edu 37 11 56468505 56468505 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:56468505G>T ENST00000312153.1 + 1 642 c.642G>T c.(640-642)ctG>ctT p.L214L NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 p.L214L(1) breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TGCTCATCCTGGCCTCCTACC 0.547000 32 221 1.22384e-17 1.96975e-17 0.002836 1 0 SEMA3E 9723 broad.mit.edu 37 7 83016314 83016314 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:83016314C>T ENST00000307792.3 - 15 2187 c.1720G>A c.(1720-1722)Gga>Aga p.G574R SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 574 axon guidance extracellular space|membrane receptor activity p.G574R(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AACTGTTGTCCAAAGCACTGC 0.358000 4 26 0 0 0.009096 0 0 EREG 2069 broad.mit.edu 37 4 75246765 75246765 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:75246765G>A ENST00000244869.2 + 3 355 c.189G>A c.(187-189)gtG>gtA p.V63V NM_001432.2 NP_001423.1 O14944 EREG_HUMAN epiregulin 63 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity p.V63V(1) breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) TGGCTCAAGTGTCAATAACAA 0.398000 31 114 0 0 0.002445 0 0 ARSF 416 broad.mit.edu 37 X 3002330 3002330 + Nonsense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:3002330C>A ENST00000381127.1 + 6 674 c.453C>A c.(451-453)tgC>tgA p.C151* ARSF_ENST00000359361.2_Nonsense_Mutation_p.C151*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.C151* NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 151 extracellular region arylsulfatase activity|metal ion binding p.C151*(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) GTGACCAGTGCCACCATCCAT 0.488000 24 39 1.42536e-11 2.02768e-11 0.004656 1 0 LRRC10 376132 broad.mit.edu 37 12 70004184 70004184 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:70004184G>T ENST00000361484.3 - 1 758 c.435C>A c.(433-435)ctC>ctA p.L145L NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 145 nucleus p.L145L(1) large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GAGTCTTAAGGAGACTCAGCT 0.647000 13 72 9.31168e-06 1.09798e-05 0.001855 1 0 DPH1 1801 broad.mit.edu 37 17 1936926 1936926 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:1936926G>T ENST00000263083.6 + 2 249 c.204G>T c.(202-204)agG>agT p.R68S DPH1_ENST00000570477.1_5'UTR NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 68 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus p.R68S(1) endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 CCATCTGGAGGATCCAACAAG 0.577000 21 113 7.41877e-09 9.88513e-09 0.001882 1 0 RFX4 5992 broad.mit.edu 37 12 107075814 107075814 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:107075814G>T ENST00000392842.1 + 5 773 c.359G>T c.(358-360)gGg>gTg p.G120V RP11-482D24.2_ENST00000547531.1_RNA|RFX4_ENST00000357881.4_Missense_Mutation_p.G129V|RP11-144F15.1_ENST00000551505.1_Intron NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 120 transcription, DNA-dependent nucleus DNA binding p.G120V(1)|p.G129V(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 AGAAGACTCGGGACCCGAGGA 0.522000 15 100 4.7546e-09 6.37319e-09 0.004007 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138714662 138714662 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:138714662C>G ENST00000389532.4 - 11 1909 c.1845G>C c.(1843-1845)cgG>cgC p.R615R CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.R337R|CAMSAP1_ENST00000409386.3_Silent_p.R626R NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 615 cytoplasm|microtubule p.R615R(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCCCTTCCCCCCGTTCATCCT 0.547000 7 129 0 0 0.003080 0 0 COL15A1 1306 broad.mit.edu 37 9 101807041 101807041 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:101807041C>T ENST00000375001.3 + 26 3091 c.2668C>T c.(2668-2670)Cca>Tca p.P890S NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 890 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.P890S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GCATGGAGCCCCAGGACCAAT 0.458000 7 42 0 0 0.003080 0 0 EYS 346007 broad.mit.edu 37 6 66205086 66205086 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:66205086G>T ENST00000503581.1 - 4 755 c.218C>A c.(217-219)gCt>gAt p.A73D EYS_ENST00000370618.3_Missense_Mutation_p.A73D|EYS_ENST00000370616.2_Missense_Mutation_p.A73D|EYS_ENST00000342421.5_Missense_Mutation_p.A73D|EYS_ENST00000370621.3_Missense_Mutation_p.A73D|EYS_ENST00000393380.2_Missense_Mutation_p.A73D NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 73 response to stimulus|visual perception extracellular region calcium ion binding p.A73D(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CTGGGGAACAGCTTGATTGCC 0.358000 31 96 5.77227e-19 9.60593e-19 0.008361 1 0 CEACAM16 388551 broad.mit.edu 37 19 45206812 45206812 + Silent SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:45206812T>A ENST00000587331.1 + 3 446 c.231T>A c.(229-231)ccT>ccA p.P77P CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.P77P NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 77 p.P142P(2) endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) ATGAGACTCCTGGCCCGGCCC 0.662000 9 30 0 0 0.006214 0 0 PSG9 5678 broad.mit.edu 37 19 43763160 43763160 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:43763160G>T ENST00000418820.2 - 3 656 c.558C>A c.(556-558)agC>agA p.S186R PSG9_ENST00000270077.3_Missense_Mutation_p.S279R|PSG9_ENST00000443718.3_Missense_Mutation_p.S186R|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 186 Ig-like C2-type 1. female pregnancy extracellular region p.S279R(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TGACGGGGAGGCTCTGACCGT 0.468000 102 379 1.44639e-49 2.79762e-49 0.003610 1 0 CSTA 1475 broad.mit.edu 37 3 122060408 122060408 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:122060408C>T ENST00000264474.3 + 3 340 c.291C>T c.(289-291)ggC>ggT p.G97G NM_005213.3 NP_005204.1 P01040 CYTA_HUMAN cystatin A (stefin A) 97 keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity p.G97G(1) large_intestine(2)|lung(2) 4 GBM - Glioblastoma multiforme(114;0.155) AGCTGACGGGCTTTTAGCAGC 0.398000 27 108 0 0 0.009535 0 0 DIP2A 23181 broad.mit.edu 37 21 47954024 47954024 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr21:47954024G>T ENST00000318711.7 + 12 1723 c.1540G>T c.(1540-1542)Gag>Tag p.E514* DIP2A_ENST00000457905.3_Nonsense_Mutation_p.E513*|DIP2A_ENST00000435722.3_Nonsense_Mutation_p.E513*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.E509*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.E449*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.E513*|DIP2A_ENST00000466639.1_Nonsense_Mutation_p.E470* NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 513 multicellular organismal development nucleus catalytic activity|transcription factor binding p.E514*(1)|p.E449*(1)|p.E513*(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGCCTACATTGAGGTAATGAC 0.468000 5 57 3.59834e-05 4.11105e-05 0.001168 1 0 KCNB1 3745 broad.mit.edu 37 20 47990014 47990014 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:47990014G>T ENST00000371741.4 - 2 2249 c.2083C>A c.(2083-2085)Ctc>Atc p.L695I NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 695 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.L695I(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGGTTCCTGAGAGGGTCATGG 0.567000 16 90 1.64113e-05 1.91466e-05 0.010504 1 0 FLT1 2321 broad.mit.edu 37 13 29005449 29005449 + Splice_Site SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr13:29005449T>C ENST00000282397.4 - 7 1065 c.e7-2 FLT1_ENST00000541932.1_Splice_Site|FLT1_ENST00000539099.1_Splice_Site NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.?(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTTATTTTTCTAGAAAGAAAA 0.338000 4 25 0 0 0.009096 0 0 SIRPG 55423 broad.mit.edu 37 20 1617103 1617103 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:1617103G>T ENST00000381580.1 - 3 559 c.380C>A c.(379-381)cCt>cAt p.P127H SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.P160H|SIRPG_ENST00000303415.3_Missense_Mutation_p.P160H|SIRPG_ENST00000381583.2_Missense_Mutation_p.P160H|RP11-77C3.3_ENST00000456177.1_RNA Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 160 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding p.P160H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGTATGCTCAGGTGTGGTCCT 0.517000 28 96 1.62565e-12 2.37388e-12 0.002445 1 0 MSH6 2956 broad.mit.edu 37 2 48032810 48032810 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:48032810G>C ENST00000234420.4 + 7 3762 c.3610G>C c.(3610-3612)Gca>Cca p.A1204P MSH6_ENST00000538136.1_Missense_Mutation_p.A902P|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.A1074P NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1204 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2)|p.A1204P(1) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACTCATGCATGCAACAGCACA 0.294000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 26 89 0 0 0.002096 0 0 NID1 4811 broad.mit.edu 37 1 236195839 236195839 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:236195839C>T ENST00000264187.6 - 6 1481 c.1399G>A c.(1399-1401)Ggg>Agg p.G467R NID1_ENST00000366595.3_Missense_Mutation_p.G467R NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 467 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding p.G467R(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TAGGAGCGCCCGTGGTTCATT 0.522000 21 103 0 0 0.008871 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99991416 99991416 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:99991416G>T ENST00000314594.5 + 7 2278 c.181G>T c.(181-183)Gac>Tac p.D61Y R3HCC1L_ENST00000298999.3_Missense_Mutation_p.D645Y|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D645Y|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.D51Y NM_001256619.1 NP_001243548.1 R3H domain and coiled-coil containing 1-like p.D645Y(1) TCATACTGAAGACCTTCTACG 0.363000 12 66 4.36969e-10 5.98458e-10 0.001855 1 0 ZNF407 55628 broad.mit.edu 37 18 72346333 72346333 + Nonsense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr18:72346333A>T ENST00000299687.5 + 1 3358 c.3358A>T c.(3358-3360)Aaa>Taa p.K1120* ZNF407_ENST00000309902.6_Nonsense_Mutation_p.K1120*|ZNF407_ENST00000577538.1_Nonsense_Mutation_p.K1120*|ZNF407_ENST00000582337.1_Nonsense_Mutation_p.K1120* NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K1120*(2) central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TGATACTCTTAAATCTAGAAA 0.353000 7 35 0 0 0.001984 0 0 RDX 5962 broad.mit.edu 37 11 110108242 110108242 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:110108242T>A ENST00000343115.4 - 11 1545 c.1226A>T c.(1225-1227)gAc>gTc p.D409V RDX_ENST00000528900.1_Missense_Mutation_p.D62V|RDX_ENST00000405097.1_Missense_Mutation_p.D409V|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.D273V|RDX_ENST00000528498.1_Missense_Mutation_p.D409V NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 409 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding p.D409V(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) CTTCATCTGGTCGGCAGCTTG 0.403000 24 71 0 0 0.004656 0 0 OR2L8 391190 broad.mit.edu 37 1 248112520 248112520 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:248112520C>T ENST00000357191.3 + 1 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R121C(2)|p.R121S(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGCCTATGATCGTTACATTGC 0.443000 46 204 0 0 0.003214 0 0 UFL1 23376 broad.mit.edu 37 6 96973215 96973215 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:96973215G>A ENST00000369278.4 + 4 361 c.295G>A c.(295-297)Gac>Aac p.D99N NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 99 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity TAGAATTGGTGACATTATTAA 0.279000 5 120 0 0 0.001984 0 0 MASP1 5648 broad.mit.edu 37 3 186953530 186953530 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:186953530C>A ENST00000296280.6 - 11 2354 c.2129G>T c.(2128-2130)tGg>tTg p.W710L MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.W597L NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 690 complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.W710L(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTCCCACACCCAGTCCACGTA 0.597000 8 114 0.000157383 0.000176606 0.003080 1 0 SCN3A 6328 broad.mit.edu 37 2 165986747 165986747 + Silent SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:165986747A>T ENST00000360093.3 - 17 3116 c.2625T>A c.(2623-2625)atT>atA p.I875I SCN3A_ENST00000409101.3_Silent_p.I826I|SCN3A_ENST00000283254.7_Silent_p.I875I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 875 voltage-gated sodium channel complex voltage-gated sodium channel activity p.I826I(1)|p.I875I(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CAGAATTGCCAATGATCTTAA 0.418000 27 105 0 0 0.004656 0 0 ZNF536 9745 broad.mit.edu 37 19 31040159 31040159 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:31040159C>T ENST00000355537.3 + 4 3780 c.3633C>T c.(3631-3633)ccC>ccT p.P1211P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.P1211P(1) 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) GCCTGCAGCCCACAGGCACCT 0.602000 13 107 0 0 0.006122 0 0 SLC6A14 11254 broad.mit.edu 37 X 115582710 115582710 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:115582710C>G ENST00000371900.4 + 8 1122 c.1034C>G c.(1033-1035)tCt>tGt p.S345C NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 345 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.S345C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) AACTGCTTCTCTGATGCCATT 0.408000 11 46 0 0 0.001368 0 0 ZRANB3 84083 broad.mit.edu 37 2 136261918 136261918 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:136261918C>A ENST00000401392.1 - 2 354 c.142G>T c.(142-144)Gcc>Tcc p.A48S ZRANB3_ENST00000264159.6_Missense_Mutation_p.A48S|ZRANB3_ENST00000536680.1_Missense_Mutation_p.A48S Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 48 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding p.A48S(1)|p.A48T(1) NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CTTTTGAGGGCAAAAATGATG 0.343000 6 73 0.00116845 0.00126917 0.001168 1 0 FREM1 158326 broad.mit.edu 37 9 14859286 14859286 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:14859286C>A ENST00000380881.4 - 5 1341 c.526G>T c.(526-528)Gac>Tac p.D176Y FREM1_ENST00000422223.2_Missense_Mutation_p.D176Y|FREM1_ENST00000380880.3_Missense_Mutation_p.D176Y Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 176 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.D176Y(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTCGCAGTGTCCAGGCTGACG 0.527000 18 95 5.03518e-11 6.96086e-11 0.007413 1 0 NGEF 25791 broad.mit.edu 37 2 233834989 233834989 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:233834989G>T ENST00000264051.3 - 3 596 c.318C>A c.(316-318)atC>atA p.I106I NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 106 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity p.I106I(2) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TGCTCCAGGGGATATTCAAGG 0.463000 25 135 1.42536e-11 2.02768e-11 0.004656 1 0 EPHB6 2051 broad.mit.edu 37 7 142563342 142563342 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:142563342C>G ENST00000392957.2 + 8 1846 c.1059C>G c.(1057-1059)ggC>ggG p.G353G EPHB6_ENST00000442129.1_Silent_p.G353G|EPHB6_ENST00000411471.2_Silent_p.G76G NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 353 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.G338G(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCCTGGAGGGCTTCTACCGGG 0.637000 6 69 0 0 0.003080 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767880 31767880 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:31767880C>A ENST00000240587.4 - 2 3146 c.2819G>T c.(2818-2820)gGg>gTg p.G940V NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 940 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G757V(1)|p.G940V(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CATGGACAGCCCGGTGAACCT 0.572000 11 73 2.62699e-14 4.00866e-14 0.003163 1 0 IL10RA 3587 broad.mit.edu 37 11 117864126 117864126 + Splice_Site SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:117864126G>C ENST00000227752.3 + 4 657 c.e4+1 IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site|IL10RA_ENST00000533700.1_Splice_Site NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha integral to membrane|plasma membrane interleukin-10 receptor activity p.?(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) AAACTTCACGGTATGGGGTTC 0.562000 22 80 0 0 0.004656 0 0 C12orf40 283461 broad.mit.edu 37 12 40076706 40076706 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:40076706T>A ENST00000324616.5 + 8 1134 c.980T>A c.(979-981)aTg>aAg p.M327K C12orf40_ENST00000398716.1_Missense_Mutation_p.M250K|C12orf40_ENST00000405531.3_Missense_Mutation_p.M327K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 327 p.M327N(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TATGATAGTATGGGAGATACT 0.313000 7 46 0 0 0.001984 0 0 PCDH10 57575 broad.mit.edu 37 4 134073607 134073607 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:134073607G>C ENST00000264360.4 + 1 3138 c.2312G>C c.(2311-2313)tGt>tCt p.C771S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 771 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.C771S(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TCGACCTGCTGTGGCCGCCAA 0.582000 3 19 0 0 0.009096 0 0 ANXA2 302 broad.mit.edu 37 15 60641388 60641388 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr15:60641388C>T ENST00000396024.3 - 13 1005 c.846G>A c.(844-846)ggG>ggA p.G282G ANXA2_ENST00000451270.2_Silent_p.G282G|ANXA2_ENST00000421017.2_Silent_p.G282G|ANXA2_ENST00000332680.4_Silent_p.G300G NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 282 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity p.G300G(1) kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TATCTCGCGTCCCCTTGCCCT 0.433000 18 50 0 0 0.004990 0 0 CUL2 8453 broad.mit.edu 37 10 35333797 35333797 + Splice_Site SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:35333797C>A ENST00000374748.1 - 8 820 c.e8-1 CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000374746.1_Splice_Site|CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000602371.1_Splice_Site|CUL2_ENST00000374742.1_Splice_Site Q13617 CUL2_HUMAN cullin 2 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding p.?(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 ACCACGATCACTAAAACAAGG 0.328000 9 58 1.76689e-08 2.31217e-08 0.006214 1 0 JMJD1C 221037 broad.mit.edu 37 10 64945331 64945331 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:64945331C>A ENST00000399262.2 - 20 7040 c.6822G>T c.(6820-6822)atG>atT p.M2274I JMJD1C_ENST00000542921.1_Missense_Mutation_p.M2092I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.M2037I|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2274 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding p.M2037I(1)|p.M2274I(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ACCTTGCTGGCATCATAGTCT 0.388000 12 67 9.31168e-06 1.09798e-05 0.001855 1 0 SRGAP3 9901 broad.mit.edu 37 3 9055137 9055137 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:9055137C>T ENST00000383836.3 - 17 2429 c.2002G>A c.(2002-2004)Gat>Aat p.D668N SRGAP3_ENST00000360413.3_Missense_Mutation_p.D644N NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 668 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.D668N(1) SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCCTGCCCATCAGGGATGTGC 0.547000 T RAF1 pilocytic astrocytoma 18 78 0 0 0.007413 0 0 KRT1 3848 broad.mit.edu 37 12 53069297 53069297 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:53069297A>T ENST00000252244.3 - 9 1673 c.1615T>A c.(1615-1617)Tat>Aat p.Y539N NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 539 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.Y539N(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 ccagaaccatagctaccacct 0.677000 10 27 0 0 0.002450 0 0 FTCD 10841 broad.mit.edu 37 21 47570097 47570097 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr21:47570097G>A ENST00000397748.1 - 7 885 c.842C>T c.(841-843)gCg>gTg p.A281V FTCD_ENST00000355384.2_Missense_Mutation_p.A281V|FTCD_ENST00000291670.5_Missense_Mutation_p.A281V|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.A281V|FTCD_ENST00000359679.2_Missense_Mutation_p.A281V|FTCD_ENST00000397746.3_Missense_Mutation_p.A281V O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 281 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity p.A281V(1) endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GAAGGCGGCCGCATCCAGCAG 0.682000 4 19 0 0 0.000602 0 0 OCA2 4948 broad.mit.edu 37 15 28171326 28171326 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr15:28171326T>C ENST00000354638.3 - 19 2181 c.2026A>G c.(2026-2028)Aga>Gga p.R676G OCA2_ENST00000353809.5_Missense_Mutation_p.R652G NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 676 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.R676G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CATTCCACTCTGTGTAGAATT 0.368000 Oculocutaneous Albinism 23 74 0 0 0.003954 0 0 OBSCN 84033 broad.mit.edu 37 1 228482094 228482094 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:228482094C>T ENST00000570156.2 + 47 12734 c.12660C>T c.(12658-12660)acC>acT p.T4220T OBSCN_ENST00000422127.1_Silent_p.T3791T|OBSCN_ENST00000366707.4_Silent_p.T910T|OBSCN_ENST00000366709.4_Silent_p.T910T|OBSCN_ENST00000284548.11_Silent_p.T3791T|OBSCN_ENST00000359599.6_Silent_p.T2638T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3263 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.T4074T(1)|p.T3845T(1)|p.T3975T(1)|p.T3791T(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGAGAGGACCTCAGCCACAC 0.587000 32 150 0 0 0.002445 0 0 SPEG 10290 broad.mit.edu 37 2 220354241 220354241 + Nonsense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:220354241C>A ENST00000312358.7 + 36 8633 c.8501C>A c.(8500-8502)tCg>tAg p.S2834* SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2834 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.S2834*(1) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCTTGTCCTCGCTCAAGGCT 0.682000 42 154 1.15505e-17 1.86585e-17 0.009718 1 0 SHQ1 55164 broad.mit.edu 37 3 72890283 72890283 + Silent SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:72890283G>C ENST00000325599.8 - 4 538 c.399C>G c.(397-399)ccC>ccG p.P133P SHQ1_ENST00000463369.1_Silent_p.P105P NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 133 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding p.P133P(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CCTCTTCACAGGGTGTCTGCT 0.393000 40 146 0 0 0.006230 0 0 TNRC18 84629 broad.mit.edu 37 7 5360180 5360180 + Nonsense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:5360180G>A ENST00000399537.4 - 23 6967 c.6619C>T c.(6619-6621)Cag>Tag p.Q2207* TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Q2207* O15417 TNC18_HUMAN trinucleotide repeat containing 18 2207 DNA binding p.Q2207*(2)|p.Q39*(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TGCAGCAACTGCTCCAGACAG 0.672000 7 27 0 0 0.004482 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617641 37617641 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr21:37617641C>T ENST00000399151.3 + 19 3448 c.3363C>T c.(3361-3363)gaC>gaT p.D1121D NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1121 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane p.D1121D(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GCCACACGGACAGCGAGAACA 0.642000 26 118 0 0 0.003271 0 0 HYDIN 54768 broad.mit.edu 37 16 71007834 71007834 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:71007834G>T ENST00000393567.2 - 34 5277 c.5127C>A c.(5125-5127)gcC>gcA p.A1709A NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1709 p.A1708A(1)|p.A1660A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTGAATTGTGGCAAAGTCCA 0.498000 22 131 2.4375e-19 4.08721e-19 0.007291 1 0 LIG3 3980 broad.mit.edu 37 17 33319679 33319679 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:33319679G>T ENST00000378526.4 + 8 1556 c.1423G>T c.(1423-1425)Gcc>Tcc p.A475S LIG3_ENST00000262327.5_Missense_Mutation_p.A475S NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 475 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding p.A388S(1)|p.A475S(1) endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GAGCGTCCAGGCCTCGCTGAT 0.622000 Other BER factors 14 62 6.72482e-11 9.26765e-11 0.003163 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 3 37 0 0 0.009096 0 0 MKS1 54903 broad.mit.edu 37 17 56283513 56283513 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:56283513C>A ENST00000393119.2 - 18 1681 c.1607G>T c.(1606-1608)cGg>cTg p.R536L MKS1_ENST00000546108.1_Missense_Mutation_p.R333L|MKS1_ENST00000537529.2_Missense_Mutation_p.R526L|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000313863.6_3'UTR NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 536 cilium assembly centrosome|cilium|microtubule basal body protein binding p.R536L(1) endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CATGCGGCGCCGGGCTCGACG 0.602000 17 62 1.33834e-09 1.81045e-09 0.007413 1 0 CD101 9398 broad.mit.edu 37 1 117561104 117561104 + Silent SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:117561104A>C ENST00000256652.4 + 6 1997 c.1939A>C c.(1939-1941)Aga>Cga p.R647R CD101_ENST00000369470.1_Silent_p.R647R NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 647 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.R647R(1) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGTTTATGACAGAAATTCCCT 0.463000 54 110 0 0 0.003610 0 0 BEST3 144453 broad.mit.edu 37 12 70087526 70087526 + Translation_Start_Site SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:70087526G>T ENST00000476098.1 - 0 308 BEST3_ENST00000330891.5_Missense_Mutation_p.L137M|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.L137M|BEST3_ENST00000553096.1_Missense_Mutation_p.L31M|BEST3_ENST00000551160.1_Missense_Mutation_p.L31M|BEST3_ENST00000393365.1_Missense_Mutation_p.L31M|BEST3_ENST00000266661.4_Missense_Mutation_p.L31M Q8N1M1 BEST3_HUMAN bestrophin 3 chloride channel complex|plasma membrane chloride channel activity p.L137M(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAGATGAGCAGGGAGGTGAGA 0.522000 14 76 2.23348e-06 2.69117e-06 0.004007 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21790024 21790024 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:21790024G>A ENST00000206660.6 + 13 1623 c.1623G>A c.(1621-1623)gaG>gaA p.E541E RPGRIP1_ENST00000557771.1_Silent_p.E514E|RPGRIP1_ENST00000556336.1_Silent_p.E514E|RPGRIP1_ENST00000400017.2_Silent_p.E541E|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Silent_p.E183E Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 541 response to stimulus|visual perception cilium p.E541E(1)|p.E157E(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGGAACTGGAGGCAATGATGA 0.408000 8 41 0 0 0.003080 0 0 CUBN 8029 broad.mit.edu 37 10 16867009 16867009 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:16867009G>T ENST00000377833.4 - 67 10902 c.10837C>A c.(10837-10839)Cgt>Agt p.R3613S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3613 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.R3613S(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCGGATGGACGCCGTGCATAA 0.458000 12 36 0.00185496 0.00200992 0.001855 1 0 KDM4C 23081 broad.mit.edu 37 9 7049120 7049120 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:7049120G>C ENST00000381309.3 + 17 2909 c.2344G>C c.(2344-2346)Gtc>Ctc p.V782L KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000442236.2_Missense_Mutation_p.V527L|KDM4C_ENST00000381306.3_Missense_Mutation_p.V782L|KDM4C_ENST00000428870.2_Missense_Mutation_p.V469L|KDM4C_ENST00000543771.1_Missense_Mutation_p.V782L|KDM4C_ENST00000535193.1_Missense_Mutation_p.V804L NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 782 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.V782L(2) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 CGCCGTTGCGGTCCCAGAAGT 0.428000 10 50 0 0 0.008291 0 0 C17orf78 284099 broad.mit.edu 37 17 35742976 35742976 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:35742976G>C ENST00000300618.4 + 4 471 c.421G>C c.(421-423)Gtc>Ctc p.V141L ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 141 integral to membrane p.V141L(1) NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) ACAATGTAAAGTCCTGGGGGC 0.388000 4 25 0 0 0.001168 0 0 SLC44A3 126969 broad.mit.edu 37 1 95360466 95360466 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:95360466C>T ENST00000271227.6 + 15 2052 c.1950C>T c.(1948-1950)gcC>gcT p.A650A SLC44A3_ENST00000446120.2_Silent_p.A614A|SLC44A3_ENST00000467909.1_Silent_p.A602A|SLC44A3_ENST00000529450.1_Silent_p.A617A|SLC44A3_ENST00000532427.1_Silent_p.A570A|SLC44A3_ENST00000527077.1_Silent_p.A582A NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 650 integral to membrane|plasma membrane choline transmembrane transporter activity p.A602A(1)|p.A650A(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) AACTCCAGGCCATTGTGAGAT 0.398000 6 51 0 0 0.001168 0 0 GABRA2 2555 broad.mit.edu 37 4 46390663 46390663 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:46390663C>A ENST00000507460.1 - 2 393 c.61G>T c.(61-63)Gac>Tac p.D21Y GABRA2_ENST00000507069.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000510861.1_Missense_Mutation_p.D21Y|GABRA2_ENST00000381620.4_Missense_Mutation_p.D21Y P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 21 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.D21Y(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGGCAGGGTCCCACACCAAG 0.373000 13 104 9.31168e-06 1.09798e-05 0.001855 1 0 TRAPPC2B 10597 broad.mit.edu 37 19 57876262 57876262 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:57876262G>C ENST00000596755.1 + 1 1328 c.61G>C c.(61-63)Gag>Cag p.E21Q ZNF547_ENST00000282282.3_Intron|AC003002.4_ENST00000597658.1_Intron|TRAPPC2P1_ENST00000543226.1_Missense_Mutation_p.E21Q p.E21Q(2) kidney(1)|lung(2) 3 TTTTGAAATGGAGTTTTTGCC 0.468000 3 42 0 0 0.004672 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769365 15769365 + Splice_Site SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:15769365G>A ENST00000221307.7 + 11 1362 c.1314_splice c.e11+1 p.E438_splice CYP4F3_ENST00000591058.1_Splice_Site_p.E438_splice|CYP4F3_ENST00000585846.1_Splice_Site_p.E438_splice|CYP4F3_ENST00000586182.1_Splice_Site_p.E438_splice NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 438 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.E438E(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CGGACCCTGAGGTGCGGGCCC 0.572000 61 275 0 0 0.003610 0 0 SOCS5 9655 broad.mit.edu 37 2 46986062 46986062 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:46986062G>T ENST00000306503.5 + 2 565 c.393G>T c.(391-393)aaG>aaT p.K131N SOCS5_ENST00000394861.2_Missense_Mutation_p.K131N NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 131 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth p.K131N(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GTTCTACAAAGACCCAGAGTT 0.458000 18 60 1.33834e-09 1.81045e-09 0.007413 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77331205 77331205 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:77331205C>A ENST00000282849.5 - 18 3200 c.2782G>T c.(2782-2784)Gct>Tct p.A928S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 928 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A928S(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CAGGAGAAAGCGTTGCAGATT 0.398000 25 123 1.55811e-20 2.66328e-20 0.008361 1 0 NUP37 79023 broad.mit.edu 37 12 102512147 102512147 + Silent SNP C C A rs139625051 by1000genomes TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:102512147C>A ENST00000552283.1 - 2 289 c.150G>T c.(148-150)acG>acT p.T50T NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.T50T Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 50 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding p.T50T(1) endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TAACCTGAAACGTACACGTGC 0.363000 35 155 7.53189e-24 1.33934e-23 0.007835 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85521630 85521630 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:85521630A>T ENST00000393217.2 + 18 4089 c.4028A>T c.(4027-4029)cAg>cTg p.Q1343L NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1343 IQ 2. p.Q1343L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GTGGTAATCCAGTCATACTGG 0.403000 16 33 0 0 0.008871 0 0 CEP135 9662 broad.mit.edu 37 4 56878095 56878095 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:56878095A>T ENST00000257287.4 + 21 2870 c.2746A>T c.(2746-2748)Act>Tct p.T916S NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 916 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.T916S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TTCTATTGACACTGAGAGGAG 0.383000 11 74 0 0 0.000978 0 0 OR52H1 390067 broad.mit.edu 37 11 5566115 5566115 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:5566115C>A ENST00000322653.4 - 1 664 c.639G>T c.(637-639)atG>atT p.M213I HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M213I(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATGACCGTCATGATGGGAA 0.507000 16 77 4.7546e-09 6.37319e-09 0.004007 1 0 CACNA1D 776 broad.mit.edu 37 3 53531424 53531424 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:53531424G>A ENST00000288139.3 + 2 431 c.313G>A c.(313-315)Gcc>Acc p.A105T CACNA1D_ENST00000422281.2_Missense_Mutation_p.A105T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A105T NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 105 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.A105T(4) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACCTGCCCGCGCCCTTTTCTG 0.478000 42 130 0 0 0.003610 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99110112 99110112 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:99110112G>T ENST00000394170.2 + 3 702 c.451G>T c.(451-453)Gca>Tca p.A151S ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A151S|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A151S NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 151 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A151S(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 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) TCGGAAGATGGCAACACCTGG 0.547000 31 208 2.08457e-15 3.24839e-15 0.002096 1 0 KCNH5 27133 broad.mit.edu 37 14 63246542 63246542 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:63246542G>T ENST00000322893.7 - 10 2191 c.1923C>A c.(1921-1923)atC>atA p.I641I KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.I583I NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 641 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.I641I(1)|p.I583I(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTCCCGCTTGATGATGTGTA 0.483000 28 62 2.48779e-11 3.48291e-11 0.005443 1 0 SPEF2 79925 broad.mit.edu 37 5 35691155 35691155 + Nonsense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:35691155G>A ENST00000440995.2 + 11 1541 c.1541G>A c.(1540-1542)tGg>tAg p.W514* SPEF2_ENST00000509059.1_Nonsense_Mutation_p.W514*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.W514*|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 514 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.W514L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTGGAGAGTGGGCCTTACCA 0.348000 4 61 0 0 0.009096 0 0 BAGE2 85319 broad.mit.edu 37 21 11049455 11049455 + RNA SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr21:11049455G>T ENST00000470054.1 - 0 653 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) CTTACTTGCAGTTCTGGCACA 0.418000 7 167 0.000157383 0.000176606 0.003080 1 0 PRKG1 5592 broad.mit.edu 37 10 53822338 53822338 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:53822338C>A ENST00000373980.4 + 7 1299 c.882C>A c.(880-882)gtC>gtA p.V294V PRKG1_ENST00000373985.1_Silent_p.V267V|PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000401604.2_Silent_p.V279V NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 279 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity p.V279V(1)|p.V294V(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AAGACCCAGTCTTTCTTAGAA 0.413000 9 51 2.17888e-05 2.51541e-05 0.006214 1 0 JMJD1C 221037 broad.mit.edu 37 10 64952769 64952769 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:64952769G>A ENST00000399262.2 - 16 6223 c.6005C>T c.(6004-6006)cCt>cTt p.P2002L JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1820L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1765L|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2002 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding p.P1765L(1)|p.P2002L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GGATTCTGGAGGAGTTAACTT 0.453000 59 294 0 0 0.003610 0 0 HTR3B 9177 broad.mit.edu 37 11 113803683 113803683 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:113803683G>T ENST00000260191.2 + 6 821 c.564G>T c.(562-564)ctG>ctT p.L188L HTR3B_ENST00000537778.1_Silent_p.L177L NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 188 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity p.L188L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TGGCCTTTCTGAGGAGCCCAG 0.473000 22 89 4.4004e-07 5.52871e-07 0.003330 1 0 PDILT 204474 broad.mit.edu 37 16 20370695 20370695 + Missense_Mutation SNP C C A rs142976690 byFrequency TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:20370695C>A ENST00000302451.4 - 12 1949 c.1701G>T c.(1699-1701)aaG>aaT p.K567N NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 567 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.K567N(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GTCCCTTTGGCTTAGCCACCA 0.483000 69 202 1.55545e-33 2.89431e-33 0.003610 1 0 ASIC1 41 broad.mit.edu 37 12 50472281 50472281 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:50472281C>T ENST00000228468.4 + 6 1300 c.915C>T c.(913-915)taC>taT p.Y305Y ASIC1_ENST00000552438.1_Silent_p.Y339Y|ASIC1_ENST00000447966.2_Silent_p.Y305Y NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 305 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding p.Y305Y(1) Amiloride(DB00594) TCGACTCCTACAGCATCACTG 0.617000 12 342 0 0 0.000978 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21370190 21370190 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:21370190A>C ENST00000256958.2 + 12 1731 c.1635A>C c.(1633-1635)ttA>ttC p.L545F NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 545 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 p.L545F(1) 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) TCTTGAATTTATTTTTCTCTG 0.353000 11 41 0 0 0.001368 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68699042 68699042 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:68699042G>T ENST00000283916.6 - 7 670 c.572C>A c.(571-573)aCt>aAt p.T191N TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.T74N|RP11-453E17.1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 191 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity p.T191N(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTCAGCCTCAGTGCCTCCAAG 0.517000 24 174 7.87624e-14 1.18144e-13 0.002780 1 0 SULF2 55959 broad.mit.edu 37 20 46311847 46311847 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:46311847C>G ENST00000359930.4 - 7 1806 c.955G>C c.(955-957)Ggt>Cgt p.G319R SULF2_ENST00000361612.4_Missense_Mutation_p.G319R|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.G319R|SULF2_ENST00000467815.1_Missense_Mutation_p.G319R NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 319 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.G319R(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ATGTGGTAACCGTGGTCGGCG 0.567000 18 58 0 0 0.008361 0 0 MYH1 4619 broad.mit.edu 37 17 10408603 10408603 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:10408603G>T ENST00000226207.5 - 21 2406 c.2312C>A c.(2311-2313)gCt>gAt p.A771D 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 771 Actin-binding (By similarity).|Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.A771D(1) 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 CAGAAGACCAGCTTTGAAAAA 0.458000 8 92 1.76689e-08 2.31217e-08 0.006214 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76573654 76573654 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:76573654G>T ENST00000307431.8 + 21 3641 c.3256G>T c.(3256-3258)Gag>Tag p.E1086* CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E1038*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E1014*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.E1090* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1087 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding p.E1014*(2)|p.E1086*(2) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TAAATATCAAGAGCCTGATGT 0.343000 6 14 0.00116845 0.00126917 0.001168 1 0 MTOR 2475 broad.mit.edu 37 1 11270888 11270888 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:11270888T>C ENST00000361445.4 - 24 3713 c.3637A>G c.(3637-3639)Atc>Gtc p.I1213V NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1213 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity p.I1213V(1) breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ATTCTGCAGATGAGCACATCA 0.398000 22 90 0 0 0.003954 0 0 FZD1 8321 broad.mit.edu 37 7 90895971 90895971 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:90895971G>T ENST00000287934.2 + 1 2189 c.1776G>T c.(1774-1776)ccG>ccT p.P592P NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 592 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding p.P592P(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GCGCCCCGCCGCACCCGCCCA 0.647000 27 32 3.21399e-22 5.60226e-22 0.004878 1 0 HIAT1 64645 broad.mit.edu 37 1 100533603 100533603 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:100533603G>A ENST00000370152.3 + 6 693 c.557G>A c.(556-558)gGg>gAg p.G186E RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 186 transmembrane transport integral to membrane|plasma membrane transporter activity p.G186E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) CGAGTATATGGGGACAGCTTG 0.433000 26 187 0 0 0.006320 0 0 C5orf34 375444 broad.mit.edu 37 5 43509410 43509410 + Missense_Mutation SNP T T C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr5:43509410T>C ENST00000306862.2 - 2 407 c.32A>G c.(31-33)gAa>gGa p.E11G RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 11 p.E11G(1) breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TGAATCATCTTCATAAAGTAT 0.363000 12 60 0 0 0.001855 0 0 SEC23IP 11196 broad.mit.edu 37 10 121691671 121691671 + Nonsense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:121691671G>T ENST00000369075.3 + 16 2671 c.2599G>T c.(2599-2601)Gga>Tga p.G867* SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.G656*|SEC23IP_ENST00000475542.1_3'UTR NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 867 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding p.M866_G867>I*(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CTCTCGTATGGGATCTGATTT 0.388000 19 133 1.9806e-07 2.5244e-07 0.002299 1 0 ADAM33 80332 broad.mit.edu 37 20 3655230 3655230 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:3655230G>T ENST00000356518.2 - 6 762 c.521C>A c.(520-522)aCc>aAc p.T174N ADAM33_ENST00000379861.4_Missense_Mutation_p.T174N|ADAM33_ENST00000350009.2_Missense_Mutation_p.T174N NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 174 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.T174N(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TCCTTTCCAGGTGAGCAGCTG 0.607000 60 232 5.08636e-23 9.00838e-23 0.003610 1 0 FBXL18 80028 broad.mit.edu 37 7 5540694 5540694 + Silent SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:5540694G>A ENST00000382368.3 - 3 1329 c.1206C>T c.(1204-1206)ggC>ggT p.G402G FBXL18_ENST00000453700.3_Silent_p.G402G NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 402 p.G402G(2) FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) AGAGGTGGCGGCCCAGGCCCT 0.716000 12 34 0 0 0.002450 0 0 NBPF1 55672 broad.mit.edu 37 1 16902974 16902974 + Missense_Mutation SNP T T A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:16902974T>A ENST00000430580.2 - 19 2794 c.1907A>T c.(1906-1908)cAa>cTa p.Q636L NBPF1_ENST00000287968.8_Missense_Mutation_p.Q1L|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q94L NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 636 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GACTTTATATTGCCTAAGGTG 0.458000 8 449 0 0 0.004990 0 0 OR52N4 390072 broad.mit.edu 37 11 5776387 5776387 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:5776387C>A ENST00000317254.3 + 1 465 c.417C>A c.(415-417)acC>acA p.T139T TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T139T(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTATCCTCACCAATCCTGTAA 0.512000 25 112 8.24728e-16 1.29895e-15 0.004656 1 0 KCNH1 3756 broad.mit.edu 37 1 211093022 211093022 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:211093022G>T ENST00000367007.4 - 7 1510 c.1341C>A c.(1339-1341)gaC>gaA p.D447E KCNH1_ENST00000271751.4_Missense_Mutation_p.D474E NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 474 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.D474E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TCTTCTCAATGTCTGTGGATG 0.498000 7 199 2.0095e-06 2.42791e-06 0.001984 1 0 DBH 1621 broad.mit.edu 37 9 136501597 136501597 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:136501597C>A ENST00000393056.2 + 1 116 c.104C>A c.(103-105)gCc>gAc p.A35D NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 35 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding p.A35D(1) central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) ATCCTGGTGGCCGCACTGCAG 0.677000 10 110 7.48243e-07 9.29507e-07 0.006214 1 0 NCAN 1463 broad.mit.edu 37 19 19334856 19334856 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr19:19334856C>A ENST00000252575.5 + 4 545 c.502C>A c.(502-504)Cgg>Agg p.R168R NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 168 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.R168R(1)|p.R182R(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCGATCAGCCCGGGACCGCTA 0.577000 23 109 4.26978e-12 6.17368e-12 0.003330 1 0 WBSCR17 64409 broad.mit.edu 37 7 70853322 70853322 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:70853322C>A ENST00000333538.5 + 3 1158 c.524C>A c.(523-525)gCc>gAc p.A175D WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 175 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A175D(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTGCACAGTGCCGTCAATCAC 0.542000 34 96 1.90571e-15 2.9802e-15 0.004289 1 0 MYH13 8735 broad.mit.edu 37 17 10253943 10253943 + Silent SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:10253943C>T ENST00000418404.3 - 11 1237 c.1074G>A c.(1072-1074)gtG>gtA p.V358V MYH13_ENST00000252172.4_Silent_p.V358V|MYH13_ENST00000570743.1_Silent_p.V358V Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 358 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.V358V(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CATAATGCATCACGGCTCCCG 0.512000 37 114 0 0 0.002522 0 0 CDC14A 8556 broad.mit.edu 37 1 100964529 100964529 + Missense_Mutation SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:100964529A>G ENST00000336454.3 + 15 1821 c.1466A>G c.(1465-1467)aAt>aGt p.N489S CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.N489S|CDC14A_ENST00000361544.6_Missense_Mutation_p.N489S|CDC14A_ENST00000542213.1_Missense_Mutation_p.N431S NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 489 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.N489S(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) GGGAACTTGAATGCTGCAACA 0.473000 6 91 0 0 0.001168 0 0 OR13C2 392376 broad.mit.edu 37 9 107367587 107367587 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr9:107367587C>T ENST00000542196.1 - 1 364 c.322G>A c.(322-324)Ggg>Agg p.G108R NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G108R(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCTGTTGTCCCCATGGCCAAG 0.512000 11 102 0 0 0.001855 0 0 LRRN2 10446 broad.mit.edu 37 1 204588373 204588373 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:204588373C>A ENST00000367175.1 - 1 2960 c.748G>T c.(748-750)Gcc>Tcc p.A250S LRRN2_ENST00000367176.3_Missense_Mutation_p.A250S|LRRN2_ENST00000367177.3_Missense_Mutation_p.A250S O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 250 cell adhesion integral to membrane receptor activity p.A250S(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCACCCGGGCCAGCTGGTTG 0.632000 23 122 7.87624e-14 1.18144e-13 0.002780 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801222 185801222 + Missense_Mutation SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:185801222A>T ENST00000302277.6 + 4 1693 c.1099A>T c.(1099-1101)Aat>Tat p.N367Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 367 intracellular zinc ion binding p.N367Y(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGACATGTCTAATGATTGCAT 0.378000 5 30 0 0 0.001168 0 0 GPA33 10223 broad.mit.edu 37 1 167038228 167038228 + Missense_Mutation SNP C C T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:167038228C>T ENST00000367868.3 - 3 689 c.346G>A c.(346-348)Gag>Aag p.E116K GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 116 Ig-like V-type. integral to plasma membrane receptor activity p.E116K(1) endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACAGAACACTCGTAGGTGCCG 0.517000 38 68 0 0 0.006230 0 0 ZEB1 6935 broad.mit.edu 37 10 31809806 31809806 + Missense_Mutation SNP A A C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:31809806A>C ENST00000446923.2 + 7 1886 c.1495A>C c.(1495-1497)Aag>Cag p.K499Q ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.K448Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.K495Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.K515Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.K516Q NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 515 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.K515Q(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TCTTACTGTTAAGTCTGAGAA 0.373000 24 73 0 0 0.002780 0 0 INSC 387755 broad.mit.edu 37 11 15198682 15198682 + Missense_Mutation SNP G G C TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:15198682G>C ENST00000379554.3 + 4 615 c.569G>C c.(568-570)tGc>tCc p.C190S INSC_ENST00000379556.3_Missense_Mutation_p.C143S|INSC_ENST00000530161.1_Missense_Mutation_p.C143S|INSC_ENST00000528567.1_Missense_Mutation_p.C143S|INSC_ENST00000525218.1_Missense_Mutation_p.C143S|INSC_ENST00000424273.1_Missense_Mutation_p.C143S NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 190 cell differentiation|nervous system development cytoplasm binding p.C190S(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 ATGGAGAAATGCTCGGAGCTC 0.493000 19 138 0 0 0.006122 0 0 CHRDL1 91851 broad.mit.edu 37 X 109919536 109919536 + Missense_Mutation SNP T T G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chrX:109919536T>G ENST00000218054.4 - 12 1490 c.1294A>C c.(1294-1296)Agt>Cgt p.S432R CHRDL1_ENST00000434224.1_Missense_Mutation_p.S353R|CHRDL1_ENST00000372042.1_Missense_Mutation_p.S434R|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S426R|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S432R|CHRDL1_ENST00000482160.1_Missense_Mutation_p.S354R|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S433R NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 426 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region p.S432R(1) endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 CATACACGACTTGAACACATC 0.463000 5 61 0 0 0.000602 0 0 BPIFB2 80341 broad.mit.edu 37 20 31608184 31608184 + Silent SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr20:31608184G>T ENST00000170150.3 + 12 1326 c.1131G>T c.(1129-1131)ggG>ggT p.G377G NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 377 extracellular region lipid binding p.G377G(1) AGCTTCAGGGGACCACGTCTG 0.602000 17 84 5.03518e-11 6.96086e-11 0.007413 1 0 EPS8L3 79574 broad.mit.edu 37 1 110293311 110293311 + Missense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:110293311G>A ENST00000369805.3 - 18 1973 c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W EPS8L3_ENST00000361852.4_Missense_Mutation_p.R551W|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R581W NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 581 cytoplasm protein binding p.R582W(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GCCTCCAGCCGGGACAGGATT 0.612000 23 65 0 0 0.008361 0 0 KIAA1467 57613 broad.mit.edu 37 12 13232874 13232874 + Silent SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:13232874C>G ENST00000197268.8 + 12 1914 c.1794C>G c.(1792-1794)acC>acG p.T598T NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 598 integral to membrane p.T598T(1) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) AGGAGTCCACCCCCAAAATTG 0.547000 11 59 0 0 0.000978 0 0 IFITM5 387733 broad.mit.edu 37 11 299433 299433 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:299433C>A ENST00000382614.2 - 1 93 c.58G>T c.(58-60)Gcc>Tcc p.A20S NM_001025295.1 NP_001020466.1 A6NNB3 IFM5_HUMAN interferon induced transmembrane protein 5 20 multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane p.A20S(1) lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) GCTGTGTGGGCACCGGCCTTG 0.672000 3 14 0.004672 0.00498875 0.004672 1 0 DDO 8528 broad.mit.edu 37 6 110714106 110714106 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:110714106C>A ENST00000368924.3 - 5 997 c.982G>T c.(982-984)Gta>Tta p.V328L DDO_ENST00000368925.1_Missense_Mutation_p.V300L|DDO_ENST00000368923.3_Missense_Mutation_p.V269L NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 300 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity p.V328L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) TGGTGGACTACAGGCAGCCTC 0.642000 25 103 4.47668e-21 7.7725e-21 0.003954 1 0 TMEM63C 57156 broad.mit.edu 37 14 77709294 77709294 + Silent SNP A A T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr14:77709294A>T ENST00000298351.4 + 15 1380 c.1236A>T c.(1234-1236)gcA>gcT p.A412A NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 412 integral to membrane p.A412A(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GCTTTATCGCAATCAACACCT 0.512000 21 115 0 0 0.002780 0 0 FAM171B 165215 broad.mit.edu 37 2 187626438 187626438 + Silent SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr2:187626438C>A ENST00000304698.5 + 8 1572 c.1369C>A c.(1369-1371)Cgg>Agg p.R457R NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 457 integral to membrane DNA binding p.R457R(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGTAAAAACTCGGGACGATTT 0.368000 5 48 3.59834e-05 4.11105e-05 0.001168 1 0 KIF13A 63971 broad.mit.edu 37 6 17817465 17817465 + Splice_Site SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr6:17817465C>A ENST00000378814.5 - 17 1786 c.e17-1 KIF13A_ENST00000259711.6_Splice_Site|KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Splice_Site|KIF13A_ENST00000378826.2_Splice_Site NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding p.?(2) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TGAACTGGGTCTAGTGAGCCA 0.512000 29 115 2.47511e-08 3.22935e-08 0.008361 1 0 POTEA 340441 broad.mit.edu 37 8 43211932 43211932 + RNA SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr8:43211932C>A ENST00000522175.2 + 0 1255 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A p.A464E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATCCAGGATGCAGTTATTTCA 0.358000 8 71 0.000442599 0.000487966 0.006214 1 0 OR8B8 26493 broad.mit.edu 37 11 124310583 124310583 + Missense_Mutation SNP C C A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:124310583C>A ENST00000328064.2 - 1 471 c.399G>T c.(397-399)atG>atT p.M133I NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M133I(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ACATGGTGACCATGTACAACA 0.507000 11 81 2.27111e-07 2.88634e-07 0.001368 1 0 SOX9 6662 broad.mit.edu 37 17 70120440 70120440 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr17:70120440C>G ENST00000245479.2 + 3 1814 c.1442C>G c.(1441-1443)gCc>gGc p.A481G NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 481 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription p.A481G(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) ACCCCCATCGCCGACACCTCT 0.647000 22 164 0 0 0.003330 0 0 RP1-125I3.2 0 broad.mit.edu 37 1 26186959 26186960 + RNA INS - - T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr1:26186959_26186960insT ENST00000455431.1 + 0 263 AAATTTTGTAATTTTTTTTTTT 0.554 4 7 --- --- --- --- CACNA2D3 55799 broad.mit.edu 37 3 54354528 54354528 + Frame_Shift_Del DEL A A - TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr3:54354528delA ENST00000474759.1 + 3 312 c.264delA c.(262-264)gtfs p.V88fs CACNA2D3_ENST00000490478.1_5'UTR|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.V88fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.V88fs NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 88 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TCCAACTGGTAAAGAAGCTGG 0.448 2 4 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 8 175 --- --- --- --- HDAC9 9734 broad.mit.edu 37 7 18868809 18868810 + Frame_Shift_Ins INS - - T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr7:18868809_18868810insT ENST00000406451.3 + 18 2489_2490 c.2339_2340insT c.(2338-2340)cggfs p.R780fs HDAC9_ENST00000401921.1_Frame_Shift_Ins_p.R739fs|HDAC9_ENST00000441542.2_Frame_Shift_Ins_p.R783fs|HDAC9_ENST00000432645.2_Frame_Shift_Ins_p.R780fs NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 780 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GTGAGGCCCCCTGGCCATCACG 0.530 25 169 --- --- --- --- SORCS1 114815 broad.mit.edu 37 10 108459106 108459106 + Frame_Shift_Del DEL C C - TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr10:108459106delC ENST00000263054.6 - 9 1286 c.1279delG c.(1279-1281)tcfs p.V427fs SORCS1_ENST00000344440.6_Frame_Shift_Del_p.V427fs|SORCS1_ENST00000369698.1_5'UTR NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 427 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CATTCTTGGACCGCTGCGAAC 0.478 17 102 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr11:1577819_1577820delCG ENST00000397374.3 - 7 1933_1934 c.1806_1807delCG c.(1804-1809)cggcfs p.RG602fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 2 4 --- --- --- --- METTL1 4234 broad.mit.edu 37 12 58165850 58165856 + Frame_Shift_Del DEL CGAGTCT CGAGTCT - TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr12:58165850_58165856delCGAGTCT ENST00000324871.7 - 1 720_726 c.11_17delAGACTCG c.(10-18)ggfs p.ETR4fs METTL1_ENST00000257848.7_Frame_Shift_Del_p.ETR4fs|METTL21B_ENST00000548256.1_Intron|METTL1_ENST00000548681.1_5'UTR NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 4 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) GGCCACGTTCCGAGTCTCGGCTGCCAT 0.643 13 147 --- --- --- --- SLC6A10P 386757 broad.mit.edu 37 16 32890877 32890877 + RNA DEL C C - TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ceccaee-df27-4f7f-bfcd-e1c59b365711 b5b71aef-8a1b-4f37-a875-e683bb10a1d3 g.chr16:32890877delC ENST00000330048.5 - 0 3028 NR_003083.2 GGCGGGAGGGCCAAGCTGGAG 0.632 10 48 --- --- --- ---