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 ZNF85 7639 broad.mit.edu 37 19 21133034 21133034 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:21133034G>C ENST00000601023.1 + 2 2183 c.1537G>C c.(1537-1539)Gac>Cac p.D513H ZNF85_ENST00000328178.8_Missense_Mutation_p.D572H|ZNF85_ENST00000345030.6_Missense_Mutation_p.D539H Q03923 ZNF85_HUMAN zinc finger protein 85 572 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 TGAAGAATGTGACAAAGCTTT 0.323000 3 5 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438559 120438559 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:120438559C>T ENST00000369400.1 - 1 559 c.401G>A c.(400-402)cGa>cAa p.R134Q NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 134 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAATACACCTCGGAGACCCCC 0.458000 32 26 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70504275 70504275 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:70504275C>G ENST00000288078.6 + 11 1246 c.1014C>G c.(1012-1014)ctC>ctG p.L338L FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Silent_p.L370L NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 338 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) AGTTCCTGCTCAGCCTCACAC 0.612000 64 55 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63069887 63069887 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:63069887G>A ENST00000332793.6 + 7 1159 c.1157G>A c.(1156-1158)gGa>gAa p.G386E SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 386 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTACTTTATGGAGCTGTCGCT 0.433000 26 13 0 0 1 0 0 DCBLD1 285761 broad.mit.edu 37 6 117861961 117861961 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:117861961G>C ENST00000338728.5 + 10 1352 c.1232G>C c.(1231-1233)gGt>gCt p.G411A DCBLD1_ENST00000296955.8_Missense_Mutation_p.G411A|DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_3'UTR Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 411 F5/8 type C. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) GAGCTCATTGGTTGCCAGATT 0.488000 12 63 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48820025 48820025 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:48820025C>T ENST00000218176.3 - 6 3058 c.1761G>A c.(1759-1761)ctG>ctA p.L587L KCND1_ENST00000376477.1_Silent_p.L210L NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 587 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 TGTCGCAGTTCAGGTCAAGGC 0.592000 9 5 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65299128 65299128 + Nonsense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:65299128G>T ENST00000377990.2 + 3 1101 c.898G>T c.(898-900)Gaa>Taa p.E300* CEP68_ENST00000546106.1_Nonsense_Mutation_p.E300*|CEP68_ENST00000260569.4_Nonsense_Mutation_p.E300*|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 300 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 TAAAGAGTATGAAGATCTGCT 0.587000 53 28 5.82089e-37 6.90091e-37 1 1 0 RIN1 9610 broad.mit.edu 37 11 66100202 66100202 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:66100202G>C ENST00000311320.4 - 10 2023 c.1897C>G c.(1897-1899)Cag>Gag p.Q633E RIN1_ENST00000424433.2_Missense_Mutation_p.Q528E|RIN1_ENST00000530056.1_Missense_Mutation_p.Q467E|RIN1_ENST00000524804.1_5'UTR NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 633 Ras and 14-3-3 protein binding region.|Ras-associating. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CTGGGATCCTGATAGGCTACT 0.582000 26 38 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154284069 154284069 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:154284069C>T ENST00000285873.7 - 18 2705 c.2630G>A c.(2629-2631)aGa>aAa p.R877K NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 877 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTTTGTACCTCTGGAGTGCTT 0.438000 35 12 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76430220 76430220 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:76430220C>G ENST00000389840.5 - 75 12221 c.12097G>C c.(12097-12099)Gag>Cag p.E4033Q DNAH17_ENST00000585328.1_Missense_Mutation_p.E4034Q|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTGCGCCTCTCTGCCACCACA 0.607000 33 63 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71190301 71190301 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:71190301G>C ENST00000234396.4 + 10 992 c.919G>C c.(919-921)Gct>Cct p.A307P AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A307P NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 307 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GGTCTCTGCTGCTAGAGAGGA 0.602000 42 18 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18789796 18789796 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:18789796G>A ENST00000396576.2 + 4 848 c.347G>A c.(346-348)gGa>gAa p.G116E CACNB2_ENST00000324631.7_Missense_Mutation_p.G171E|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Missense_Mutation_p.G143E|CACNB2_ENST00000352115.6_Missense_Mutation_p.G171E|CACNB2_ENST00000377331.2_Missense_Mutation_p.G143E|CACNB2_ENST00000377329.4_Missense_Mutation_p.G117E|CACNB2_ENST00000377319.3_Missense_Mutation_p.G116E|CACNB2_ENST00000377315.4_Missense_Mutation_p.G123E NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 171 SH3. axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGTGAAATCGGATTCATTCCA 0.413000 7 27 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252330 124252330 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:124252330G>C ENST00000375013.2 - 1 928 c.910C>G c.(910-912)Ctg>Gtg p.L304V NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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) ATTTTAATCAGAGCTTTCCTC 0.338000 18 13 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72945901 72945901 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:72945901G>C ENST00000262209.4 - 23 3053 c.2846C>G c.(2845-2847)cCa>cGa p.P949R RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 949 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GAGGACAATTGGGACAAATAT 0.303000 13 7 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4733904 4733904 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:4733904G>A ENST00000399577.5 + 16 1682 c.1589G>A c.(1588-1590)cGa>cAa p.R530Q MGRN1_ENST00000588994.1_Missense_Mutation_p.R508Q|MGRN1_ENST00000262370.7_Missense_Mutation_p.R530Q|MGRN1_ENST00000586183.1_Missense_Mutation_p.R508Q|MGRN1_ENST00000415496.1_Missense_Mutation_p.R509Q NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 530 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CACTGTGGCCGAGGCCCACCT 0.662000 4 12 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110523074 110523074 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:110523074G>A ENST00000378402.5 + 71 11568 c.11464G>A c.(11464-11466)Gtg>Atg p.V3822M NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3822 immune response cytosol|extracellular space|integral to membrane receptor activity 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) TCACAGCATTGTGGCTCTGAA 0.448000 HNSCC(38;0.096) 32 119 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526036 176526036 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:176526036C>T ENST00000367662.3 + 2 1742 c.578C>T c.(577-579)gCc>gTc p.A193V PAPPA2_ENST00000367661.3_Missense_Mutation_p.A193V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 193 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGGGGCTGGGCCAAGTCCAGG 0.587000 13 160 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77298814 77298814 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:77298814G>C ENST00000255194.6 - 27 3372 c.3197C>G c.(3196-3198)tCt>tGt p.S1066C AP3B1_ENST00000519295.1_Missense_Mutation_p.S1017C NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 1066 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CTGGGCTGTAGAGCCTTCCTT 0.463000 Hermansky-Pudlak syndrome 13 39 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683865 100683865 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100683865G>C ENST00000306151.4 + 3 9232 c.9168G>C c.(9166-9168)acG>acC p.T3056T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3056 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACCACGCCAGTGGCCA 0.493000 42 320 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884118 24884118 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:24884118G>C ENST00000382554.3 + 9 3481 c.3163G>C c.(3163-3165)Gac>Cac p.D1055H NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1055 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCTGGACATCGACCTCCTGCC 0.652000 15 21 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161139345 161139345 + Silent SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:161139345T>A ENST00000308192.9 + 8 870 c.807T>A c.(805-807)tcT>tcA p.S269S NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 269 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACCATCTTCTGGTCCCACCT 0.502000 6 45 0 0 1 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1978612 1978612 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:1978612C>T ENST00000255641.8 + 5 805 c.310C>T c.(310-312)Cag>Tag p.Q104* NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 104 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCGTCCCTCAGGTCTACTA 0.726000 3 6 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70532143 70532143 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:70532143C>A ENST00000327305.6 - 3 777 c.120G>T c.(118-120)caG>caT p.Q40H NETO1_ENST00000397929.1_Missense_Mutation_p.Q39H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q40H|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.Q39H NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 40 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGTTCCACACTGCACTGACT 0.388000 4 16 0.184627 0.185003 1 1 0 IGLV5-48 28780 broad.mit.edu 37 22 22707587 22707587 + RNA SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:22707587C>T ENST00000390293.1 + 0 175 CTGGTACCAGCAGAAGCCAGA 0.552000 9 55 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94544953 94544953 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:94544953C>T ENST00000370225.3 - 9 1250 c.1164G>A c.(1162-1164)agG>agA p.R388R ABCA4_ENST00000535735.1_Silent_p.R388R NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 388 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCTTTGCCGCCCTCCAAGCGA 0.473000 8 43 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15507590 15507590 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:15507590C>T ENST00000341776.2 + 11 2918 c.2674C>T c.(2674-2676)Ctc>Ttc p.L892F JARID2_ENST00000397311.3_Missense_Mutation_p.L720F|JARID2_ENST00000541660.1_Missense_Mutation_p.L854F|JARID2_ENST00000474854.1_3'UTR NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 892 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TGGATGGAACCTCACCGTCCT 0.592000 13 87 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100949903 100949903 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:100949903C>T ENST00000336454.3 + 11 1388 c.1033C>T c.(1033-1035)Cga>Tga p.R345* RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000542213.1_Nonsense_Mutation_p.R287*|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000370124.3_Nonsense_Mutation_p.R345*|CDC14A_ENST00000544534.1_Nonsense_Mutation_p.R345*|CDC14A_ENST00000361544.6_Nonsense_Mutation_p.R345* NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 345 R -> Q (in dbSNP:rs28364897). cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) ACTGAAAAATCGACCATCCAG 0.343000 9 9 0 0 1 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61665787 61665787 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:61665787G>A ENST00000394836.2 - 10 1269 c.1112C>T c.(1111-1113)tCa>tTa p.S371L RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S345L NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 371 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 CTTGGCCAGTGACATCTCCTT 0.627000 OREG0021017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 59 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17690356 17690356 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:17690356C>T ENST00000252599.4 + 10 1452 c.1332C>T c.(1330-1332)ttC>ttT p.F444F NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 AGATCTTCTTCAAGAGACGTC 0.602000 25 49 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50027715 50027715 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:50027715C>A ENST00000261897.1 + 9 1119 c.568C>A c.(568-570)Cag>Aag p.Q190K PRPF40B_ENST00000548825.2_Missense_Mutation_p.Q218K|PRPF40B_ENST00000380281.1_Missense_Mutation_p.Q196K Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 196 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 ACAGCCACCTCAGCCACAGCC 0.612000 17 115 5.35267e-07 5.78794e-07 1 1 0 RNF13 11342 broad.mit.edu 37 3 149619893 149619893 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:149619893C>T ENST00000344229.3 + 7 1146 c.444C>T c.(442-444)gtC>gtT p.V148V RNF13_ENST00000361785.6_Silent_p.V29V|RNF13_ENST00000392894.3_Silent_p.V148V NM_007282.4 NP_009213.1 O43567 RNF13_HUMAN ring finger protein 13 148 PA. protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 11 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTCCATCTGTCTTTATTGGTG 0.269000 22 16 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 7 23 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561495 9561495 + Missense_Mutation SNP C C A rs146341429 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:9561495C>A ENST00000378429.3 - 5 833 c.287G>T c.(286-288)cGc>cTc p.R96L PAK7_ENST00000353224.5_Missense_Mutation_p.R96L|PAK7_ENST00000378423.1_Missense_Mutation_p.R96L NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 96 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGAGTTGGAGCGAGTCACCGA 0.532000 35 82 1.45844e-13 1.68835e-13 1 1 0 ZNF783 100289678 broad.mit.edu 37 7 148978876 148978876 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:148978876G>A ENST00000434415.1 + 6 1246 c.1083G>A c.(1081-1083)aaG>aaA p.K361K ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 361 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) TCCGCCTGAAGATCAATCTGA 0.721000 3 7 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152520102 152520102 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:152520102C>T ENST00000397345.3 - 45 5925 c.5723G>A c.(5722-5724)aGc>aAc p.S1908N NEB_ENST00000604864.1_Missense_Mutation_p.S1908N|NEB_ENST00000172853.10_Missense_Mutation_p.S1908N|NEB_ENST00000603639.1_Missense_Mutation_p.S1908N|NEB_ENST00000427231.2_Missense_Mutation_p.S1908N|NEB_ENST00000409198.1_Missense_Mutation_p.S1908N NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 1908 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAATTCAAAGCTCATGGCATC 0.453000 4 61 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53227682 53227682 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:53227682C>T ENST00000330553.5 - 1 397 c.363G>A c.(361-363)caG>caA p.Q121Q NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 121 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCAGCAGGCTCTGGTTGACAG 0.607000 37 27 0 0 1 0 0 GBAP1 2630 broad.mit.edu 37 1 155187164 155187164 + RNA SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:155187164C>G ENST00000486869.1 - 0 349 NR_002188.2 ATATCCGATTCCTACAGAAAA 0.483000 25 27 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581272 82581272 + Missense_Mutation SNP T T G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:82581272T>G ENST00000333891.9 - 5 9334 c.8997A>C c.(8995-8997)ttA>ttC p.L2999F PCLO_ENST00000423517.2_Missense_Mutation_p.L2999F NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGCTTCTGCTAAATTTGTGT 0.403000 27 119 0 0 1 0 0 PIGC 5279 broad.mit.edu 37 1 172411242 172411242 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:172411242G>C ENST00000367728.1 - 1 1984 c.521C>G c.(520-522)tCc>tGc p.S174C C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.S174C|PIGC_ENST00000258324.1_Missense_Mutation_p.S174C Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 174 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TAGTGTGCTGGATACAATGGC 0.478000 35 31 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150648204 150648204 + Silent SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:150648204G>T ENST00000392968.2 - 6 2782 c.1662C>A c.(1660-1662)ctC>ctA p.L554L KCNH2_ENST00000262186.5_Silent_p.L650L|KCNH2_ENST00000330883.4_Silent_p.L310L|KCNH2_ENST00000430723.3_Silent_p.L650L Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 650 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TAGCATACATGAGGGCTGGGG 0.662000 5 25 2.0095e-06 2.1634e-06 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7703923 7703923 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:7703923C>A ENST00000340209.4 + 9 1176 c.879C>A c.(877-879)ccC>ccA p.P293P RBFOX1_ENST00000436368.2_Silent_p.P308P|RBFOX1_ENST00000547338.1_Silent_p.P288P|RBFOX1_ENST00000547372.1_Silent_p.P331P|RBFOX1_ENST00000422070.4_Silent_p.P331P|RBFOX1_ENST00000355637.4_Silent_p.P308P|RBFOX1_ENST00000550418.1_Silent_p.P288P|RBFOX1_ENST00000552089.1_Silent_p.P305P|RBFOX1_ENST00000535565.2_Silent_p.P245P|RBFOX1_ENST00000553186.1_Silent_p.P261P|RBFOX1_ENST00000311745.5_Silent_p.P308P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 288 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ccgcggcgcccccgcccccgA 0.741000 5 13 1.23904e-05 1.32523e-05 1 1 0 RRN3 54700 broad.mit.edu 37 16 15168715 15168715 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:15168715C>T ENST00000198767.6 - 11 945 c.862G>A c.(862-864)Gaa>Aaa p.E288K RRN3_ENST00000540462.1_Missense_Mutation_p.E106K|RRN3_ENST00000563559.1_Missense_Mutation_p.E288K|RRN3_ENST00000327307.7_Missense_Mutation_p.E255K|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.E258K NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 288 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm p.E288K(1) NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 TCTTCATCTTCATCCTTTGAA 0.388000 3 11 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51994202 51994202 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:51994202C>T ENST00000395014.2 - 2 287 c.288G>A c.(286-288)gtG>gtA p.V96V PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000355852.2_Intron|PCBP4_ENST00000484633.1_Intron|PCBP4_ENST00000461554.1_Intron|PCBP4_ENST00000322099.7_Intron|PCBP4_ENST00000395013.3_Intron P57723 PCBP4_HUMAN poly(rC) binding protein 4 127 cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCTCGCCCCTCACCTCTCGGA 0.597000 28 42 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79784793 79784793 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:79784793C>T ENST00000372371.3 - 4 563 c.426G>A c.(424-426)ctG>ctA p.L142L NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 142 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TTTTCTTTTTCAGTCCTCGCT 0.488000 19 24 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948212 119948212 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:119948212G>T ENST00000307142.4 + 3 884 c.688G>T c.(688-690)Gac>Tac p.D230Y SYNPO2_ENST00000429713.2_Missense_Mutation_p.D230Y|SYNPO2_ENST00000434046.2_Missense_Mutation_p.D230Y|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 230 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCCTGACCCAGACCCTAACTT 0.493000 17 9 2.35188e-11 2.69726e-11 1 1 0 ANO2 57101 broad.mit.edu 37 12 5708736 5708736 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:5708736G>C ENST00000546188.1 - 21 2221 c.2150C>G c.(2149-2151)tCt>tGt p.S717C ANO2_ENST00000356134.5_Missense_Mutation_p.S717C|ANO2_ENST00000327087.8_Missense_Mutation_p.S716C Q9NQ90 ANO2_HUMAN anoctamin 2 721 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CGAATGGGCAGAGTCAGTTTC 0.453000 25 91 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 8 32 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53809940 53809940 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:53809940G>A ENST00000288139.4 + 36 4408 c.4290G>A c.(4288-4290)gaG>gaA p.E1430E CACNA1D_ENST00000422281.2_Silent_p.E1395E|CACNA1D_ENST00000350061.5_Silent_p.E1410E|CACNA1D_ENST00000540742.1_Silent_p.E302E NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity 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) CCTGGCAGGAGATCATGCTGG 0.498000 24 70 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813251 248813251 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:248813251C>T ENST00000344889.3 - 1 934 c.935G>A c.(934-936)gGa>gAa p.G312E NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTTACCTTTCCTGAGGACAC 0.428000 21 15 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983544 128983544 + Silent SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:128983544A>T ENST00000274487.4 + 12 2086 c.1941A>T c.(1939-1941)cgA>cgT p.R647R CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 647 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTTGTAGCCGAACCTGCAGTG 0.522000 23 103 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84215839 84215839 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:84215839G>C ENST00000567759.1 - 7 872 c.690C>G c.(688-690)gtC>gtG p.V230V TAF1C_ENST00000378541.4_Silent_p.V230V|TAF1C_ENST00000541676.1_Silent_p.V163V|TAF1C_ENST00000566732.1_Silent_p.V230V|TAF1C_ENST00000341690.6_Silent_p.V163V|TAF1C_ENST00000570117.1_5'UTR NM_005679.3 NP_005670 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 230 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 CAGCAGGGTAGACCAGCTGCC 0.652000 23 14 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75072309 75072309 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:75072309C>G ENST00000326665.5 - 10 1683 c.1465G>C c.(1465-1467)Gac>Cac p.D489H C1orf173_ENST00000420661.2_Missense_Mutation_p.D292H|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 489 Glu-rich. 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 TTTTCCTGGTCGTCTTCCAAG 0.358000 4 48 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9974296 9974296 + Missense_Mutation SNP C C G rs145526460 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:9974296C>G ENST00000295981.3 + 17 1823 c.1605C>G c.(1603-1605)atC>atG p.I535M IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.I464M|IL17RC_ENST00000383812.4_Missense_Mutation_p.I449M|IL17RC_ENST00000416074.2_Missense_Mutation_p.I303M|IL17RC_ENST00000455057.1_Missense_Mutation_p.I432M|IL17RC_ENST00000413608.1_Missense_Mutation_p.I464M NM_153461.3 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 535 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCCCAGACATCCACAAGCGCT 0.542000 36 31 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26714774 26714774 + Nonsense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:26714774G>C ENST00000381340.3 - 35 5158 c.4742C>G c.(4741-4743)tCa>tGa p.S1581* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1581 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGAGCGAGCTGATAGTCTCCA 0.443000 7 27 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108469046 108469046 + Nonsense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:108469046G>A ENST00000263054.6 - 7 1085 c.1078C>T c.(1078-1080)Cag>Tag p.Q360* SORCS1_ENST00000344440.6_Nonsense_Mutation_p.Q360* NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 360 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) GGAAAAGGCTGATTCCTGTTG 0.393000 5 27 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23542848 23542848 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:23542848G>A ENST00000300619.7 - 4 3138 c.2933C>T c.(2932-2934)tCt>tTt p.S978F ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S946F NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 978 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AAGAGTTGAAGATTTCCTAAA 0.368000 6 16 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103662492 103662492 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:103662492C>T ENST00000395884.3 - 4 2180 c.1278G>A c.(1276-1278)cgG>cgA p.R426R KLF10_ENST00000285407.6_Silent_p.R437R NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 437 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) TCCTCATGAACCGCCGGTCAC 0.522000 8 90 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50191000 50191000 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:50191000G>C ENST00000335999.6 - 8 844 c.643C>G c.(643-645)Cca>Gca p.P215A NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 211 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CCCTGGCCTGGAGGCCGCCAG 0.682000 15 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9017368 9017368 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:9017368G>T ENST00000397910.4 - 26 38159 c.37956C>A c.(37954-37956)gaC>gaA p.D12652E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12654 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTGTTCCTGTCCAGGGTGT 0.567000 21 136 1.96895e-08 2.18673e-08 1 1 0 COL6A5 256076 broad.mit.edu 37 3 130095562 130095562 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:130095562C>G ENST00000265379.6 + 3 1044 c.550C>G c.(550-552)Cat>Gat p.H184D COL6A5_ENST00000432398.2_Missense_Mutation_p.H184D A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 184 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GGCCACATCCCATTTCCATTT 0.483000 7 28 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69329383 69329383 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:69329383C>T ENST00000260364.5 + 9 1451 c.1150C>T c.(1150-1152)Cac>Tac p.H384Y NOX5_ENST00000448182.3_Missense_Mutation_p.H356Y|NOX5_ENST00000455873.3_Missense_Mutation_p.H367Y|NOX5_ENST00000388866.3_Missense_Mutation_p.H402Y|NOX5_ENST00000530406.2_Missense_Mutation_p.H374Y Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 402 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CTATTGGACTCACCTGTCCTA 0.557000 13 86 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58242398 58242398 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:58242398C>T ENST00000478253.1 + 3 586 c.85C>T c.(85-87)Ctg>Ttg p.L29L ABHD6_ENST00000295962.4_Silent_p.L29L Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 29 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) TTCATTTCTTCTGTGGCCTTC 0.428000 12 61 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262341 39262341 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:39262341G>C ENST00000407418.3 - 5 1235 c.1112C>G c.(1111-1113)aCc>aGc p.T371S CBX6_ENST00000216083.6_Missense_Mutation_p.T353S O95503 CBX6_HUMAN chromobox homolog 6 371 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGTGACATCGGTGACGACCAC 0.667000 19 18 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207867809 207867809 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:207867809G>C ENST00000508064.2 + 5 635 c.575G>C c.(574-576)aGa>aCa p.R192T CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 192 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CTTGGAAGCAGAGGGAAAAAG 0.517000 26 64 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347237 71347237 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:71347237C>A ENST00000413702.1 + 4 1064 c.776C>A c.(775-777)gCt>gAt p.A259D MUC7_ENST00000456088.1_Missense_Mutation_p.A259D|MUC7_ENST00000304887.5_Missense_Mutation_p.A259D NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 259 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) GAGACCACAGCTGTCCCACCC 0.587000 11 167 1.5842e-08 1.76741e-08 1 1 0 PPP6R1 22870 broad.mit.edu 37 19 55741989 55741989 + Silent SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:55741989T>C ENST00000412770.2 - 23 3200 c.2634A>G c.(2632-2634)ccA>ccG p.P878P PPP6R1_ENST00000587283.1_Silent_p.P878P NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 878 Pro-rich. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 ACTGGGAGCCTGGGGATGCAG 0.647000 3 32 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133815 119133815 + Silent SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:119133815G>T ENST00000264245.4 + 12 3571 c.3039G>T c.(3037-3039)ctG>ctT p.L1013L NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1013 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TCTCTGGCCTGAAAGGGGCAG 0.572000 7 50 2.7689e-08 3.06824e-08 1 1 0 ACTL6B 51412 broad.mit.edu 37 7 100252642 100252642 + Splice_Site SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100252642C>T ENST00000160382.5 - 4 475 c.369G>A c.(367-369)ccG>ccA p.P123P NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 123 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton p.P123P(1) endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AGGCACTCACCGGAGCCTCGG 0.592000 5 23 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139856338 139856338 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:139856338T>A ENST00000303045.6 - 4 1168 c.722A>T c.(721-723)aAg>aTg p.K241M COL22A1_ENST00000435777.1_Missense_Mutation_p.K241M NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 241 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTGATTTCCTTGGTTCCTCC 0.473000 HNSCC(7;0.00092) 13 107 0 0 1 0 0 SRSF8 10929 broad.mit.edu 37 11 94801254 94801254 + RNA SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:94801254G>T ENST00000529911.1 + 0 894 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding TGATGCATCAGGAAGCAACGT 0.493000 4 6 0.014758 0.0150019 1 1 0 LOXL2 4017 broad.mit.edu 37 8 23185981 23185981 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:23185981C>T ENST00000389131.3 - 6 1433 c.1064G>A c.(1063-1065)tGg>tAg p.W355* NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 355 SRCR 3. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CACCAGGTCCCACTTGTCGTC 0.627000 7 47 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81070880 81070880 + Nonsense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:81070880C>G ENST00000334512.5 + 24 3607 c.3035C>G c.(3034-3036)tCa>tGa p.S1012* ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1012 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AACCCCTCCTCAGCCTTAGAG 0.677000 30 75 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472768 39472768 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:39472768C>A ENST00000518318.2 + 7 1161 c.1119C>A c.(1117-1119)ccC>ccA p.P373P POU6F2_ENST00000559001.1_Silent_p.P318P|POU6F2_ENST00000403058.1_Silent_p.P373P P78424 PO6F2_HUMAN POU class 6 homeobox 2 373 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CAATCACCCCCCAGCTCCTCA 0.582000 23 55 2.89027e-11 3.29933e-11 1 1 0 UVSSA 57654 broad.mit.edu 37 4 1346904 1346904 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:1346904G>C ENST00000389851.4 + 5 1084 c.637G>C c.(637-639)Gag>Cag p.E213Q UVSSA_ENST00000507531.1_Missense_Mutation_p.E213Q|UVSSA_ENST00000511216.1_Missense_Mutation_p.E213Q NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 213 CCCGAACCCGGAGACGGAATC 0.607000 5 38 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383081 152383081 + Silent SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:152383081A>T ENST00000271835.3 - 3 539 c.477T>A c.(475-477)acT>acA p.T159T RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 159 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACGCAGAGCCAGTGGCCTGAC 0.607000 80 159 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89655858 89655858 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:89655858C>A ENST00000355754.6 - 7 1157 c.1060G>T c.(1060-1062)Gcc>Tcc p.A354S NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 354 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) AGTTGCTGGGCCATCTGCTGG 0.597000 5 36 0.000602214 0.000629065 1 1 0 ZNF665 79788 broad.mit.edu 37 19 53668042 53668042 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:53668042C>A ENST00000600412.1 - 2 1621 c.1506G>T c.(1504-1506)gaG>gaT p.E502D ZNF665_ENST00000396424.3_Missense_Mutation_p.E567D Q9H7R5 ZN665_HUMAN zinc finger protein 665 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TATAAGGTTTCTCACCAGTGT 0.388000 9 63 0.000442599 0.000464305 1 1 0 MARK4 57787 broad.mit.edu 37 19 45805712 45805712 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:45805712G>T ENST00000262891.4 + 17 2334 c.2003G>T c.(2002-2004)cGc>cTc p.R668L MARK4_ENST00000300843.4_3'UTR NM_001199867.1 NP_001186796.1 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 668 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACCAGCTCGCGCCCTCCTGAG 0.677000 17 135 4.7546e-09 5.34079e-09 1 1 0 CLVS1 157807 broad.mit.edu 37 8 62212710 62212710 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:62212710C>T ENST00000519846.1 + 3 796 c.324C>T c.(322-324)ttC>ttT p.F108F CLVS1_ENST00000325897.4_Silent_p.F108F|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 108 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGGACATGTTCAAAAACTTCA 0.507000 14 25 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516197 140516197 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:140516197C>T ENST00000231134.5 + 1 1398 c.1181C>T c.(1180-1182)cCc>cTc p.P394L NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 394 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTTGAAGCCCACATTAAAA 0.473000 8 47 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60520969 60520969 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:60520969C>A ENST00000371201.3 - 3 356 c.249G>T c.(247-249)gtG>gtT p.V83V C1orf87_ENST00000450089.2_Silent_p.V83V NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 83 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTTTCTCTTTCACATCATCTG 0.438000 9 123 4.68919e-08 5.16126e-08 1 1 0 CCDC132 55610 broad.mit.edu 37 7 92987725 92987725 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:92987725G>A ENST00000544910.1 + 29 3002 c.2782G>A c.(2782-2784)Gat>Aat p.D928N CCDC132_ENST00000535481.1_Missense_Mutation_p.D678N|CCDC132_ENST00000305866.5_Missense_Mutation_p.D958N|CCDC132_ENST00000541136.1_3'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 958 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) AGCTATAGATGATATAGACAG 0.393000 14 66 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47888164 47888164 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:47888164C>G ENST00000446256.2 + 12 2057 c.1485C>G c.(1483-1485)ttC>ttG p.F495L DHX30_ENST00000457607.1_Missense_Mutation_p.F562L|DHX30_ENST00000348968.4_Missense_Mutation_p.F506L|DHX30_ENST00000445061.1_Missense_Mutation_p.F534L NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 534 Helicase ATP-binding. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CCCTGCTCTTCTGCACTGTGG 0.647000 8 47 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327166 30327166 + Missense_Mutation SNP C C G rs132630327 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:30327166C>G ENST00000378970.4 - 1 549 c.315G>C c.(313-315)tgG>tgC p.W105C NR0B1_ENST00000453287.1_Missense_Mutation_p.W105C NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 105 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) ACGAACAGCCCCAGCACGGAC 0.682000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 25 0 0 1 0 0 INPP1 3628 broad.mit.edu 37 2 191231488 191231488 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:191231488C>G ENST00000392329.2 + 5 1033 c.333C>G c.(331-333)ctC>ctG p.L111L INPP1_ENST00000541441.1_Silent_p.L111L|INPP1_ENST00000322522.4_Silent_p.L111L NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 111 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GCAAAGTCCTCAATGGTAACA 0.453000 40 54 0 0 1 0 0 SLC39A6 25800 broad.mit.edu 37 18 33703556 33703556 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:33703556G>A ENST00000269187.5 - 4 1255 c.1042C>T c.(1042-1044)Ctc>Ttc p.L348F SLC39A6_ENST00000440549.2_Missense_Mutation_p.L73F|SLC39A6_ENST00000590986.1_Missense_Mutation_p.L348F NM_012319.3 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 348 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 CGATTCATGAGAGGCACTAAG 0.443000 25 107 0 0 1 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115202 27115202 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:27115202G>T ENST00000377459.1 + 1 342 c.295G>T c.(295-297)Ggc>Tgc p.G99C NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 99 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 CAAGCTGCTGGGCAAAGTCAC 0.592000 12 111 2.27111e-07 2.47209e-07 1 1 0 EIF2AK3 9451 broad.mit.edu 37 2 88890568 88890568 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:88890568C>A ENST00000303236.3 - 5 1071 c.770G>T c.(769-771)tGg>tTg p.W257L EIF2AK3_ENST00000419748.1_Missense_Mutation_p.W106L NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 257 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACTGAAATTCCACCTTAAATT 0.333000 3 35 0.115264 0.115734 1 1 0 SSH2 85464 broad.mit.edu 37 17 27977760 27977760 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:27977760C>G ENST00000269033.3 - 12 1208 c.1057G>C c.(1057-1059)Gag>Cag p.E353Q SSH2_ENST00000540801.1_Missense_Mutation_p.E380Q|RP11-68I3.2_ENST00000581474.1_RNA NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 353 Tyrosine-protein phosphatase. actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTATGATACTCAAAGACTCCT 0.418000 20 63 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51094844 51094844 + Silent SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:51094844G>T ENST00000441560.2 + 13 1696 c.1215G>T c.(1213-1215)gtG>gtT p.V405V ATL1_ENST00000358385.6_Silent_p.V405V|ATL1_ENST00000354525.4_Silent_p.V405V|ATL1_ENST00000357032.3_Silent_p.V405V NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 405 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 TCCGAGGGGTGAAGAAGATGG 0.443000 29 8 3.73988e-18 4.38101e-18 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91715563 91715563 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:91715563C>G ENST00000359028.2 + 37 9283 c.9058C>G c.(9058-9060)Cat>Gat p.H3020D AKAP9_ENST00000356239.3_Missense_Mutation_p.H3016D|AKAP9_ENST00000358100.2_Missense_Mutation_p.H2966D Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3020 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCTCAATCTCATGAGAGCTT 0.358000 T BRAF papillary thyroid 17 78 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18059590 18059590 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:18059590C>T ENST00000205890.5 + 48 8879 c.8541C>T c.(8539-8541)ttC>ttT p.F2847F MYO15A_ENST00000418233.3_Silent_p.F111F NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2847 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCATCCTCTTCTCAGCCCGAG 0.552000 29 11 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187627993 187627993 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:187627993A>G ENST00000441802.2 - 2 3198 c.2989T>C c.(2989-2991)Tat>Cat p.Y997H NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 997 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGAGATTATACACTTGCTTC 0.458000 HNSCC(5;0.00058) 6 44 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916019 126916019 + Nonsense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:126916019C>G ENST00000398112.1 + 2 731 c.491C>G c.(490-492)tCa>tGa p.S164* NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCAGCCAGCTCAGCCCCCAGG 0.627000 21 59 0 0 1 0 0 C10orf88 80007 broad.mit.edu 37 10 124708315 124708315 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:124708315C>T ENST00000481909.1 - 4 722 c.498G>A c.(496-498)atG>atA p.M166I C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 166 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) AAACTGATCTCATGTGTACCA 0.388000 5 26 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139153499 139153499 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:139153499C>A ENST00000395297.1 - 17 3902 c.3732G>T c.(3730-3732)ctG>ctT p.L1244L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1244 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGAGAGTGACAGGAACGTGT 0.507000 HNSCC(54;0.14) 9 71 0.000442599 0.000464305 1 1 0 OR10A2 341276 broad.mit.edu 37 11 6891294 6891294 + Silent SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:6891294T>A ENST00000307322.4 + 1 371 c.309T>A c.(307-309)gcT>gcA p.A103A NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCCTCCTGGCTACCATGGCAT 0.537000 16 88 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54416232 54416232 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:54416232G>T ENST00000391767.1 + 2 359 c.147G>T c.(145-147)gaG>gaT p.E49D CACNG7_ENST00000222212.2_Missense_Mutation_p.E49D|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.E49D P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 49 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) AGACCACCGAGGTCAAGATGG 0.602000 5 29 1.024e-07 1.12457e-07 1 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75929607 75929607 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:75929607G>A ENST00000262207.4 + 10 1517 c.1049G>A c.(1048-1050)gGt>gAt p.G350D CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G162D|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G164D NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 350 LCCL 1. extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GACAATGATGGTGGCTGGGTA 0.328000 24 48 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56179636 56179636 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:56179636C>G ENST00000340462.4 - 7 1494 c.1214G>C c.(1213-1215)gGg>gCg p.G405A ZBP1_ENST00000395822.3_Missense_Mutation_p.G353A|ZBP1_ENST00000371173.3_Missense_Mutation_p.G428A Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 428 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) GCACTAAATCCCACCTCCCCA 0.567000 5 85 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166852550 166852550 + Missense_Mutation SNP T T G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:166852550T>G ENST00000423058.2 - 24 4571 c.4554A>C c.(4552-4554)aaA>aaC p.K1518N AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.K1518N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1490N|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1507N|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1518 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTTTTGCGGTTTTTTCGATC 0.323000 5 35 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089348 137089348 + Silent SNP G G C rs143964663 by1000genomes TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:137089348G>C ENST00000314940.4 - 1 691 c.408C>G c.(406-408)ggC>ggG p.G136G NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 136 RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CACGCTTCTTGCCGGACTGCT 0.582000 6 40 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190310 50190310 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:50190310G>C ENST00000335999.6 - 8 1534 c.1333C>G c.(1333-1335)Cag>Gag p.Q445E NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 441 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 AGGGGTCCCTGAGCTTCCCCA 0.627000 13 11 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32745472 32745472 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:32745472C>A ENST00000333070.4 + 11 1262 c.1162C>A c.(1162-1164)Cgg>Agg p.R388R LCK_ENST00000373564.3_Silent_p.R365R|LCK_ENST00000336890.5_Silent_p.R358R NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 358 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CATTGAAGAGCGGAATTATAT 0.522000 T TRB@ T-ALL 13 59 1.15088e-07 1.2611e-07 1 1 0 JAK2 3717 broad.mit.edu 37 9 5044482 5044482 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:5044482C>G ENST00000381652.3 + 5 924 c.430C>G c.(430-432)Ctt>Gtt p.L144V JAK2_ENST00000539801.1_Missense_Mutation_p.L144V|JAK2_ENST00000544510.1_5'UTR NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 144 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGAAGCTCCTCTTCTTGATGA 0.358000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 12 7 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509806 228509806 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:228509806C>G ENST00000570156.2 + 66 18209 c.18135C>G c.(18133-18135)atC>atG p.I6045M OBSCN_ENST00000284548.11_Missense_Mutation_p.I5088M|OBSCN_ENST00000366709.4_Missense_Mutation_p.I2207M|OBSCN_ENST00000366707.4_Missense_Mutation_p.I2722M|OBSCN_ENST00000422127.1_Missense_Mutation_p.I5088M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5088 Ig-like 52. 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 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) GGGTGGAGATCAAGCTGGTGG 0.582000 10 5 0 0 1 0 0 ICA1L 130026 broad.mit.edu 37 2 203680704 203680704 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:203680704G>A ENST00000392237.2 - 8 870 c.713C>T c.(712-714)aCa>aTa p.T238I ICA1L_ENST00000358299.2_Missense_Mutation_p.T238I NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 238 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CATTCGAGCTGTTTTCTTCCA 0.388000 19 13 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45968409 45968409 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:45968409C>A ENST00000260324.7 + 6 1151 c.765C>A c.(763-765)ctC>ctA p.L255L SQRDL_ENST00000568606.1_Silent_p.L255L|RP11-96O20.4_ENST00000564080.1_Silent_p.L255L NM_021199.3 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 255 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AGCGGAACCTCACTGTTAACT 0.458000 16 105 3.45872e-05 3.6913e-05 1 1 0 IFT43 112752 broad.mit.edu 37 14 76548637 76548637 + Splice_Site SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:76548637G>T ENST00000314067.6 + 6 329 c.e6-1 IFT43_ENST00000238628.6_Splice_Site NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCCTTGCAGATATTCCTAT 0.498000 92 41 3.37413e-40 4.00983e-40 1 1 0 PDZK1 5174 broad.mit.edu 37 1 145748572 145748572 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:145748572C>G ENST00000344770.2 + 3 518 c.445C>G c.(445-447)Ctg>Gtg p.L149V PDZK1_ENST00000417171.1_Missense_Mutation_p.L149V|PDZK1_ENST00000451928.2_Missense_Mutation_p.L149V NM_002614.4 NP_002605.2 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 149 PDZ 2. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TGGCTTCTCTCTGAAAACTGT 0.512000 6 34 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50047556 50047556 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:50047556C>G ENST00000335154.5 - 12 1406 c.1173G>C c.(1171-1173)aaG>aaC p.K391N FMNL3_ENST00000293590.5_Missense_Mutation_p.K391N|FMNL3_ENST00000352151.5_Missense_Mutation_p.K340N|FMNL3_ENST00000550488.1_Missense_Mutation_p.K391N NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 391 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GGGCTACATTCTTGGTCTCAG 0.527000 26 103 0 0 1 0 0 ARL14 80117 broad.mit.edu 37 3 160395553 160395553 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:160395553T>C ENST00000320767.2 + 1 606 c.419T>C c.(418-420)tTc>tCc p.F140S NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 140 small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) ACCAGAATGTTCAAAGTGAAG 0.478000 8 61 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93170884 93170884 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:93170884G>A ENST00000298050.3 + 14 1914 c.1814G>A c.(1813-1815)tGa>tAa p.*605* CCDC67_ENST00000525646.1_Silent_p.*347* NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 0 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGACACATATGAGCTTTTAAA 0.333000 22 9 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29812498 29812498 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:29812498C>T ENST00000375398.2 - 17 3494 c.3045G>A c.(3043-3045)ccG>ccA p.P1015P SVIL_ENST00000355867.4_Silent_p.P1015P|SVIL_ENST00000375400.3_Silent_p.P589P O95425 SVIL_HUMAN supervillin 1015 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.P1015P(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AAAATTCCTTCGGTTCATCCC 0.498000 15 21 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41645814 41645814 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:41645814C>T ENST00000455915.2 - 13 2960 c.1491G>A c.(1489-1491)ctG>ctA p.L497L RANGAP1_ENST00000356244.3_Silent_p.L497L|RANGAP1_ENST00000405486.1_Silent_p.L497L|RANGAP1_ENST00000407260.4_Silent_p.L442L P46060 RAGP1_HUMAN Ran GTPase activating protein 1 497 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTTCTGCATCAGGGCATCTG 0.617000 8 28 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157738478 157738478 + Silent SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:157738478A>G ENST00000361516.3 - 5 657 c.609T>C c.(607-609)tcT>tcC p.S203S FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Silent_p.S203S NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 203 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGCTTACATTAGAGATGGGGA 0.483000 11 105 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127697960 127697960 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:127697960G>A ENST00000368695.1 + 11 1095 c.973G>A c.(973-975)Gaa>Aaa p.E325K FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.E331K NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 331 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) CTCCTTATTAGAAGAAAGGAA 0.413000 7 13 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23473662 23473662 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:23473662G>C ENST00000246012.1 + 3 656 c.299G>C c.(298-300)aGc>aCc p.S100T NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 100 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) AAGCCTTTAAGCACTAATGAA 0.423000 11 89 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37343762 37343762 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:37343762G>C ENST00000394303.3 - 4 591 c.384C>G c.(382-384)ttC>ttG p.F128L CACNB1_ENST00000394310.3_Missense_Mutation_p.F128L|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.F128L NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 128 SH3. axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CTTTGGGCTCGAAGGTGATGG 0.572000 32 70 0 0 1 0 0 EIF4E3 317649 broad.mit.edu 37 3 71739207 71739207 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:71739207G>C ENST00000425534.3 - 6 589 c.582C>G c.(580-582)atC>atG p.I194M EIF4E3_ENST00000389826.3_Missense_Mutation_p.I88M|EIF4E3_ENST00000448225.1_Missense_Mutation_p.I88M|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000421769.2_Missense_Mutation_p.I88M|EIF4E3_ENST00000295612.3_Missense_Mutation_p.I88M NM_001134651.1 NP_001128123.1 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E family member 3 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) GAAGTTCATAGATCTTTTCTA 0.373000 11 16 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390448 45390448 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:45390448G>A ENST00000371438.1 + 2 535 c.177G>A c.(175-177)caG>caA p.Q59Q RUNX2_ENST00000541979.1_Silent_p.Q127Q|RUNX2_ENST00000359524.5_Silent_p.Q45Q|RUNX2_ENST00000465038.2_Silent_p.Q59Q|RUNX2_ENST00000352853.5_Silent_p.Q127Q|RUNX2_ENST00000371432.3_Silent_p.Q45Q|RUNX2_ENST00000371436.6_Silent_p.Q59Q|RUNX2_ENST00000576263.1_Silent_p.Q59Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 59 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcaacagcagcagcagc 0.726000 4 65 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675213 40675213 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:40675213G>A ENST00000416151.2 + 1 292 c.177G>A c.(175-177)gaG>gaA p.E59E KNSTRN_ENST00000249776.8_Silent_p.E59E|KNSTRN_ENST00000608100.1_5'UTR|KNSTRN_ENST00000448395.2_Silent_p.E59E NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein ACGAGAGCGAGAAGGACTGCG 0.617000 18 102 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 20 8 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058074 79058074 + Silent SNP C C T rs2929157 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:79058074C>T ENST00000388820.4 - 19 4389 c.4179G>A c.(4177-4179)ccG>ccA p.P1393P NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1393 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TGGGAGCCAGCGGCTGGGTCT 0.682000 22 22 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160490985 160490985 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:160490985G>C ENST00000356956.1 + 31 4486 c.4338G>C c.(4336-4338)tgG>tgC p.W1446C NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1446 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GACCTCAGTGGAGAGATGGCA 0.572000 5 20 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160264498 160264498 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:160264498C>T ENST00000264431.4 + 16 3132 c.2713C>T c.(2713-2715)Cgt>Tgt p.R905C NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 905 Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AAAAGAAATTCGTCACGTTGG 0.458000 8 43 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2403297 2403297 + Nonsense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:2403297G>T ENST00000360876.4 + 5 957 c.901G>T c.(901-903)Gaa>Taa p.E301* EIF3B_ENST00000397011.2_Nonsense_Mutation_p.E301* NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 301 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) TGAAGAGGCAGAATGCAGAGA 0.373000 23 23 4.26978e-12 4.90825e-12 1 1 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065216 13065216 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:13065216C>T ENST00000316939.1 - 2 498 c.475G>A c.(475-477)Gag>Aag p.E159K NM_052850.3 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 159 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 TCCTGGGCCTCAGCCTGCAGT 0.632000 24 163 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124221774 124221774 + Missense_Mutation SNP G G A rs144949442 byFrequency TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:124221774G>A ENST00000330342.3 + 9 1242 c.994G>A c.(994-996)Gag>Aag p.E332K NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 332 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CTGGTGTCCCGAGGCGGATCT 0.552000 8 40 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50463852 50463852 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:50463852C>A ENST00000447370.2 - 2 507 c.417G>T c.(415-417)gtG>gtT p.V139V SIGLEC11_ENST00000426971.2_Silent_p.V139V NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 139 cell adhesion integral to membrane sugar binding p.V127V(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AACTATGTCTCACACGGCTTC 0.567000 36 11 3.43241e-23 4.03042e-23 1 1 0 ZNF860 344787 broad.mit.edu 37 3 32031691 32031691 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:32031691G>A ENST00000360311.4 + 2 1669 c.1120G>A c.(1120-1122)Gag>Aag p.E374K NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 CAAGTGTAATGAGTGTGGCAA 0.393000 10 31 0 0 1 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75728517 75728517 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:75728517G>A ENST00000312442.2 + 1 55 c.9G>A c.(7-9)ctG>ctA p.L3L GLIPR1L1_ENST00000378695.4_Silent_p.L3L|CAPS2_ENST00000442339.2_Intron NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 3 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 CCATGGCTCTGAAGAATAAAT 0.527000 OREG0021998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 24 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52943969 52943969 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:52943969T>C ENST00000267119.5 - 2 569 c.500A>G c.(499-501)cAg>cGg p.Q167R NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 167 Linker 1.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CAGGTCCAGCTGCTGCAGCAG 0.582000 38 30 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489529 133489529 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:133489529G>C ENST00000409261.1 - 17 5597 c.5224C>G c.(5224-5226)Cca>Gca p.P1742A NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P423A|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1742A|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P423A NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1742 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGGGAGTCTGGCTGGCATAGG 0.557000 8 42 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133164868 133164868 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:133164868T>A ENST00000253861.4 + 9 1422 c.1393T>A c.(1393-1395)Tat>Aat p.Y465N EXOC4_ENST00000393161.2_Missense_Mutation_p.Y465N|EXOC4_ENST00000539845.1_Missense_Mutation_p.Y364N NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 465 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AAGGGAGCTCTATAGTCGGAG 0.463000 20 32 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98802704 98802704 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:98802704C>G ENST00000266058.4 - 20 2363 c.2118G>C c.(2116-2118)caG>caC p.Q706H ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q706H NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 706 LRRCT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCAGGGGAATCTGCCGCAAAA 0.632000 8 21 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600946 27600946 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:27600946G>A ENST00000323703.6 - 4 1290 c.1092C>T c.(1090-1092)ctC>ctT p.L364L ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.L302L NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 364 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAAGGGGCAGAGGCTACAGG 0.647000 70 61 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100395368 100395368 + RNA SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100395368G>C ENST00000542585.1 + 0 8663 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCTCAGTTTTGAGCTGTCTTC 0.438000 15 36 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47104311 47104311 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:47104311G>A ENST00000377107.2 + 15 2428 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K USP11_ENST00000218348.3_Missense_Mutation_p.E735K P51784 UBP11_HUMAN ubiquitin specific peptidase 11 735 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 AACCTCCCCTGAAGAAGTCCA 0.607000 18 12 0 0 1 0 0 PRUNE 58497 broad.mit.edu 37 1 150991007 150991007 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:150991007G>T ENST00000271620.3 + 3 353 c.197G>T c.(196-198)cGa>cTa p.R66L PRUNE_ENST00000368936.1_Intron|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000467771.1_Intron NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 66 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTACCTCTGCGAGGTGACATT 0.408000 27 22 2.2171e-23 2.6096e-23 1 1 0 NOTCH3 4854 broad.mit.edu 37 19 15302808 15302808 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:15302808C>G ENST00000263388.2 - 4 717 c.642G>C c.(640-642)caG>caC p.Q214H NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 214 EGF-like 5. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGTCGCCACTCTGCCTGCAGG 0.657000 3 23 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 67986500 67986500 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:67986500T>A ENST00000262210.5 + 2 152 c.121T>A c.(121-123)Ttg>Atg p.L41M CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_Intron NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 41 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GGCTGATAATTTGGATGAATT 0.333000 8 33 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30615768 30615768 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:30615768C>G ENST00000287461.3 - 3 1657 c.1320G>C c.(1318-1320)caG>caC p.Q440H RP11-146F11.5_ENST00000563540.1_RNA NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GGTGGCTCCACTGAGCAAAAC 0.677000 9 16 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18265988 18265988 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:18265988T>A ENST00000251900.4 - 12 1630 c.1471A>T c.(1471-1473)Aca>Tca p.T491S SCML2_ENST00000398048.3_Missense_Mutation_p.T227S NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 491 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TGCCTTTCTGTTACATCTTCT 0.383000 7 13 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95422892 95422892 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:95422892C>T ENST00000371447.3 + 21 2613 c.2475C>T c.(2473-2475)gtC>gtT p.V825V PDE6C_ENST00000475427.2_Intron NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 825 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding 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) AGATGAAGGTCATTGAAGAGG 0.433000 9 10 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184567805 184567805 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:184567805A>G ENST00000287546.4 + 9 919 c.748A>G c.(748-750)Atc>Gtc p.I250V VPS8_ENST00000446204.2_Missense_Mutation_p.I248V|VPS8_ENST00000436792.2_Missense_Mutation_p.I248V|VPS8_ENST00000437079.3_Missense_Mutation_p.I250V NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 250 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AATATTGCATATCAAGGTAAG 0.328000 15 18 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4830023 4830023 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:4830023C>G ENST00000252318.2 + 1 517 c.180C>G c.(178-180)ctC>ctG p.L60L RP11-234B24.6_ENST00000544741.2_Intron NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 60 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TAAAGAGACTCTCCCACTTGG 0.473000 23 29 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183532664 183532664 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:183532664C>G ENST00000413720.1 - 11 1222 c.948G>C c.(946-948)acG>acC p.T316T NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Silent_p.T361T|NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000367535.3_Silent_p.T361T NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 361 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCATGACTACCGTGTACTTGT 0.552000 12 163 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28855329 28855329 + Missense_Mutation SNP C C T rs121434452 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:28855329C>T ENST00000313511.3 - 8 1154 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 336 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 GACCAGGCCCCGCCGCAAGTC 0.647000 9 26 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49051451 49051451 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:49051451C>T ENST00000395474.3 + 2 2854 c.2574C>T c.(2572-2574)ctC>ctT p.L858L WDR6_ENST00000608424.1_Silent_p.L828L|WDR6_ENST00000448293.1_Silent_p.L777L|WDR6_ENST00000415265.2_Silent_p.L276L NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 828 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CAAGCCGCCTCGCCTGCCATG 0.617000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 41 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43298917 43298917 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr21:43298917G>A ENST00000269844.3 - 3 410 c.300C>T c.(298-300)gtC>gtT p.V100V PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CCTCGGCGACGAcgccgcccg 0.821000 3 4 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 5 21 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46474067 46474067 + Missense_Mutation SNP G G A rs116549994 by1000genomes TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:46474067G>A ENST00000336915.6 - 2 196 c.127C>T c.(127-129)Cgg>Tgg p.R43W SKAP1_ENST00000584924.1_Missense_Mutation_p.R43W NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 43 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 TGAAAGCCCCGTAGAATATGG 0.378000 7 87 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3422404 3422404 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:3422404G>C ENST00000336727.3 + 10 3701 c.2797G>C c.(2797-2799)Gag>Cag p.E933Q RGS12_ENST00000538395.1_Missense_Mutation_p.E275Q|RGS12_ENST00000344733.5_Missense_Mutation_p.E933Q|RGS12_ENST00000338806.4_Missense_Mutation_p.E285Q|RGS12_ENST00000382788.3_Missense_Mutation_p.E933Q|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.E331Q NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 933 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity p.E933K(1) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTGTCGCCGAGAGTCGCAGGG 0.602000 3 29 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56469908 56469908 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:56469908C>T ENST00000370754.5 - 39 9418 c.9419G>A c.(9418-9420)gGa>gAa p.G3140E DST_ENST00000361203.3_Missense_Mutation_p.G2962E|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.G2962E|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.G2962E|DST_ENST00000446842.2_Missense_Mutation_p.G2636E Q03001 DYST_HUMAN dystonin 2962 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTCTCAGGTCCATCAGTGAA 0.358000 4 12 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79674001 79674001 + Silent SNP G G A rs149365217 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:79674001G>A ENST00000571730.1 + 4 542 c.411G>A c.(409-411)gcG>gcA p.A137A SLC25A10_ENST00000541223.1_Silent_p.A137A|MRPL12_ENST00000333676.3_Silent_p.A137A Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding p.A137A(1) endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGACCGAGGCGAAGCCCGTGG 0.567000 3 26 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56482537 56482537 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:56482537G>A ENST00000267101.3 + 9 1434 c.994G>A c.(994-996)Gag>Aag p.E332K ERBB3_ENST00000415288.2_Missense_Mutation_p.E273K|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 332 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.E332K(2) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGCAGCCTGTGAGGGAACAGG 0.522000 44 39 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27287864 27287864 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:27287864G>A ENST00000317338.12 - 6 1796 c.1368C>T c.(1366-1368)caC>caT p.H456H SEZ6_ENST00000360295.9_Silent_p.H456H|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.H456H|SEZ6_ENST00000442608.3_Silent_p.H456H Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 456 CUB 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CAAAGTGCAGGTGTAGCCGCT 0.607000 52 82 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051646 132051646 + Silent SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:132051646G>T ENST00000286355.5 - 1 3026 c.934C>A c.(934-936)Cgg>Agg p.R312R ADCY8_ENST00000377928.3_Silent_p.R312R NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 312 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACCGCCAGCCGGGGTATGACC 0.587000 HNSCC(32;0.087) 9 76 3.09899e-07 3.35837e-07 1 1 0 MINK1 50488 broad.mit.edu 37 17 4800081 4800081 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:4800081C>G ENST00000355280.6 + 31 4084 c.3888C>G c.(3886-3888)ctC>ctG p.L1296L MINK1_ENST00000453408.3_Silent_p.L1276L|MINK1_ENST00000347992.7_Silent_p.L1267L NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 1296 CNH.|Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CTCAGAGGCTCAAGTTCCTGT 0.597000 3 16 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47969718 47969718 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr21:47969718G>A ENST00000318711.7 + 22 2743 c.2560G>A c.(2560-2562)Gac>Aac p.D854N DIP2A_ENST00000457905.3_Missense_Mutation_p.D853N|DIP2A_ENST00000417564.2_Missense_Mutation_p.D853N|DIP2A_ENST00000400274.1_Missense_Mutation_p.D849N|DIP2A_ENST00000427143.2_Missense_Mutation_p.D789N NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 853 multicellular organismal development nucleus catalytic activity|transcription factor binding 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) GCTGCACGACGACCGGATTGT 0.627000 63 172 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728173 20728173 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:20728173T>C ENST00000427401.4 - 4 930 c.836A>G c.(835-837)cAt>cGt p.H279R NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 279 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 CTCTCCAGTATGAATTATCTT 0.418000 4 13 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52811739 52811739 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:52811739A>G ENST00000287727.3 + 19 4296 c.4124A>G c.(4123-4125)tAt>tGt p.Y1375C ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Y1316C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Y1375C O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1375 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TAGGTTGGCTATCAAGCAGGG 0.567000 7 58 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37565285 37565285 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:37565285G>A ENST00000300651.6 - 17 3412 c.3189C>T c.(3187-3189)atC>atT p.I1063I MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1063 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TCTGAATAGTGATTTTGGGAA 0.517000 HNSCC(31;0.082) 29 44 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149227513 149227513 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:149227513G>C ENST00000407073.1 + 9 2998 c.2001G>C c.(1999-2001)ttG>ttC p.L667F MBD5_ENST00000404807.1_Missense_Mutation_p.L667F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 667 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CGACAGTGTTGAGTTTGCTCA 0.468000 36 87 0 0 1 0 0 ZNF787 126208 broad.mit.edu 37 19 56600221 56600221 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:56600221G>A ENST00000270459.3 - 3 438 c.320C>T c.(319-321)tCg>tTg p.S107L NM_001002836.2 NP_001002836 Q6DD87 ZN787_HUMAN zinc finger protein 787 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) CACCAGGTGCGAGCTCTGCGA 0.672000 23 3 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25312524 25312524 + Silent SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:25312524A>T ENST00000524413.1 + 3 719 c.372A>T c.(370-372)gcA>gcT p.A124A THNSL1_ENST00000376356.4_Silent_p.A124A Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 124 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) ACTTCTCTGCATCTGGAAGTG 0.383000 13 27 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117856175 117856175 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:117856175C>A ENST00000439649.3 - 6 1223 c.856G>T c.(856-858)Ggg>Tgg p.G286W GFRA1_ENST00000544592.1_Missense_Mutation_p.G170W|GFRA1_ENST00000355422.6_Missense_Mutation_p.G291W|GFRA1_ENST00000369236.1_Missense_Mutation_p.G286W NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 291 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CCAATAAGCCCCGAGTAGGCG 0.507000 4 11 0.014758 0.0150019 1 1 0 SH3BP4 23677 broad.mit.edu 37 2 235951148 235951148 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:235951148C>G ENST00000409212.1 + 4 2242 c.1735C>G c.(1735-1737)Cag>Gag p.Q579E SH3BP4_ENST00000344528.4_Missense_Mutation_p.Q579E|SH3BP4_ENST00000392011.2_Missense_Mutation_p.Q579E Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 579 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CATCACCTCCCAGAACCCCAA 0.592000 5 45 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4202244 4202244 + Nonsense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:4202244C>A ENST00000379453.4 - 2 1761 c.1645G>T c.(1645-1647)Gag>Tag p.E549* NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 549 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) TCGGCCACCTCGTGTGGGACG 0.682000 11 29 2.27111e-07 2.47209e-07 1 1 0 UMOD 7369 broad.mit.edu 37 16 20352498 20352498 + Nonsense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:20352498G>A ENST00000396134.2 - 8 1714 c.1591C>T c.(1591-1593)Cga>Tga p.R531* UMOD_ENST00000396138.4_Nonsense_Mutation_p.R547*|UMOD_ENST00000424589.1_Nonsense_Mutation_p.R531*|UMOD_ENST00000570689.1_Nonsense_Mutation_p.R498*|UMOD_ENST00000302509.4_Nonsense_Mutation_p.R498*|UMOD_ENST00000396142.2_Nonsense_Mutation_p.R498*|UMOD_ENST00000570331.1_5'UTR NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 498 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGTGCAAATCGGGACAGGTCG 0.567000 7 34 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132402081 132402081 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:132402081C>T ENST00000321867.4 + 22 2659 c.2308C>T c.(2308-2310)Cgc>Tgc p.R770C NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 770 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CCAGGGCCCCCGCACCAGGAT 0.706000 4 10 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56470221 56470221 + Nonsense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:56470221C>A ENST00000370754.5 - 39 9105 c.9106G>T c.(9106-9108)Gaa>Taa p.E3036* DST_ENST00000361203.3_Nonsense_Mutation_p.E2858*|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Nonsense_Mutation_p.E2858*|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.E2858*|DST_ENST00000446842.2_Nonsense_Mutation_p.E2532* Q03001 DYST_HUMAN dystonin 2858 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGCCTATTTTCTTCTTCTACT 0.338000 9 15 7.48243e-07 8.07315e-07 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158504508 158504508 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:158504508G>A ENST00000355585.4 + 21 2988 c.2913G>A c.(2911-2913)ctG>ctA p.L971L SYNJ2_ENST00000367122.2_Silent_p.L971L|SYNJ2_ENST00000367121.3_Silent_p.L971L|SYNJ2_ENST00000367112.1_Silent_p.L56L NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 971 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AGGACTGGCTGAAAGGTTTGC 0.522000 6 37 0 0 1 0 0 SNORD114-27 767608 broad.mit.edu 37 14 101454556 101454556 + RNA SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:101454556T>C ENST00000363766.1 + 0 59 NR_003220.1 TGTCTGGAACTCTGAGGCCCA 0.378000 7 43 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189721 50189721 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:50189721G>A ENST00000335999.6 - 8 2123 c.1922C>T c.(1921-1923)tCa>tTa p.S641L NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 637 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CTTCTTGGATGAGTTGCCTGG 0.652000 7 5 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29027853 29027853 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:29027853T>A ENST00000257189.4 + 1 96 c.13T>A c.(13-15)Ttc>Atc p.F5I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 5 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GATGGGGCTCTTCCCCAGAAC 0.473000 6 11 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34862865 34862865 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:34862865G>A ENST00000431794.3 - 17 2103 c.1581C>T c.(1579-1581)ttC>ttT p.F527F MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 527 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity 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) GCACCACAATGAAGCTGGGCT 0.642000 8 21 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108620796 108620796 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:108620796C>T ENST00000332082.4 + 7 1652 c.834C>T c.(832-834)acC>acT p.T278T WSCD2_ENST00000261400.3_Silent_p.T278T|WSCD2_ENST00000547525.1_Silent_p.T278T|WSCD2_ENST00000549903.1_Silent_p.T278T Q2TBF2 WSCD2_HUMAN WSC domain containing 2 278 WSC 2. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TTGCAGGCACCGCCTGCCACT 0.582000 5 47 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41926218 41926218 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:41926218G>C ENST00000317310.4 + 2 377 c.336G>C c.(334-336)cgG>cgC p.R112R CD300LG_ENST00000377203.4_Silent_p.R112R|CD300LG_ENST00000293396.8_Silent_p.R112R|CD300LG_ENST00000539718.1_Silent_p.R112R|CD300LG_ENST00000586233.1_Silent_p.R112R|CD300LG_ENST00000588884.1_Silent_p.R112R NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 112 Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCGAAAAACGGGGCCCCGATG 0.577000 25 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179401884 179401884 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:179401884C>T ENST00000589042.1 - 356 100176 c.99952G>A c.(99952-99954)Gac>Aac p.D33318N TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31677N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24445N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D24253N|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24378N|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30750N|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31677 Ig-like 146. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GAGCCTCCGTCATCTGCGGGT 0.502000 7 21 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50103753 50103753 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:50103753G>A ENST00000443081.1 + 17 3284 c.2365G>A c.(2365-2367)Gaa>Aaa p.E789K RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.E921K|RBM6_ENST00000539992.1_Missense_Mutation_p.E263K|RBM6_ENST00000442092.1_Missense_Mutation_p.E399K|RBM6_ENST00000422955.1_Missense_Mutation_p.E399K P78332 RBM6_HUMAN RNA binding motif protein 6 921 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGAAGAGGAGGAACAGACCCC 0.532000 10 30 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15493152 15493152 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:15493152C>T ENST00000383788.5 - 17 1492 c.1367G>A c.(1366-1368)tGa>tAa p.*456* COLQ_ENST00000603808.1_Silent_p.*457*|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Silent_p.*422*|COLQ_ENST00000383781.4_Silent_p.*446*|COLQ_ENST00000435459.2_Silent_p.*446*|COLQ_ENST00000383787.2_Silent_p.*447* NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 0 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 TCACGGCCCTCAGGTGAAGTA 0.587000 25 52 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683873 100683873 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100683873C>G ENST00000306151.4 + 3 9240 c.9176C>G c.(9175-9177)gCc>gGc p.A3059G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3059 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACGCCAGTGGCCATTCCTGAG 0.493000 38 309 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157521932 157521932 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:157521932G>C ENST00000346085.5 + 18 4205 c.4204G>C c.(4204-4206)Gag>Cag p.E1402Q ARID1B_ENST00000275248.4_Missense_Mutation_p.E1384Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1442Q|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1389Q NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1389 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCAGCAGCAGGAGATGTACAA 0.607000 24 28 0 0 1 0 0 NSMCE1 197370 broad.mit.edu 37 16 27246561 27246561 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:27246561A>T ENST00000361439.4 - 3 295 c.196T>A c.(196-198)Tcc>Acc p.S66T NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 66 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 ATATACAAGGACTCCAAGACA 0.478000 OREG0023693 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 35 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187498059 187498059 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:187498059G>A ENST00000261023.3 + 6 863 c.589G>A c.(589-591)Gac>Aac p.D197N ITGAV_ENST00000433736.2_Missense_Mutation_p.D151N|ITGAV_ENST00000374907.3_Intron NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 197 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CATCTAGGCTGACAGAGTACT 0.308000 18 23 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326356 57326356 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:57326356C>T ENST00000326441.9 - 10 3817 c.3454G>A c.(3454-3456)Gag>Aag p.E1152K ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1152K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1028K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1026K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1152 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCTGATACTCGCTGATGGAA 0.458000 7 113 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144165737 144165737 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:144165737C>G ENST00000367576.5 + 2 252 c.118C>G c.(118-120)Cta>Gta p.L40V RP3-468K18.5_ENST00000545614.1_3'UTR NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 40 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) CCAGAGGGTTCTATTGCCCAC 0.393000 9 43 0 0 1 0 0 LRRC14 9684 broad.mit.edu 37 8 145746109 145746109 + Missense_Mutation SNP T T G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:145746109T>G ENST00000292524.1 + 3 963 c.817T>G c.(817-819)Ttc>Gtc p.F273V LRRC14_ENST00000529022.1_Missense_Mutation_p.F273V NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 273 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGAGGACAACTTCCGCTACTT 0.627000 8 68 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494282 21494282 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:21494282C>A ENST00000377142.4 - 1 382 c.26G>T c.(25-27)gGg>gTg p.G9V NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 9 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GACCGAAAACCCCGTCTTTGT 0.582000 5 56 0.00116845 0.00121538 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154395929 154395929 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:154395929T>A ENST00000435029.4 + 1 2670 c.2510T>A c.(2509-2511)cTa>cAa p.L837Q NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 837 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTGCTGACCTACAGCAGAAG 0.443000 20 6 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83037734 83037734 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:83037734C>T ENST00000307792.3 - 6 1087 c.620G>A c.(619-621)gGg>gAg p.G207E SEMA3E_ENST00000427262.1_Missense_Mutation_p.G147E NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 207 Sema. axon guidance extracellular space|membrane receptor activity 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) GGCCAGTCGCCCCATGCTGCG 0.468000 9 30 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 38016080 38016080 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:38016080G>C ENST00000377707.3 - 2 1331 c.766C>G c.(766-768)Ctc>Gtc p.L256V SHB_ENST00000377700.4_Missense_Mutation_p.L256V|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.L256V NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 256 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TTGCTCTTGAGATCATTCTTG 0.522000 58 19 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71740033 71740033 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:71740033C>T ENST00000318442.5 - 5 2275 c.1785G>A c.(1783-1785)caG>caA p.Q595Q NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CCCGGCGCTTCTGAGAGAGGT 0.632000 43 11 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44555496 44555496 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:44555496G>A ENST00000289547.4 - 19 3838 c.3783C>T c.(3781-3783)ctC>ctT p.L1261L NPC1L1_ENST00000546276.1_Silent_p.L1188L|NPC1L1_ENST00000381160.3_Silent_p.L1234L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1261 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGATCTGAATGAGCTGGGCCT 0.607000 22 22 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104170245 104170245 + Silent SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:104170245T>A ENST00000374861.3 + 3 437 c.153T>A c.(151-153)acT>acA p.T51T ZNF189_ENST00000259395.4_Silent_p.T23T|ZNF189_ENST00000339664.2_Silent_p.T65T NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 65 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AGGAGCCAACTGTAAAACAAG 0.368000 3 7 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78317800 78317800 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:78317800G>T ENST00000582970.1 + 28 6470 c.6327G>T c.(6325-6327)agG>agT p.R2109S RNF213_ENST00000508628.2_Missense_Mutation_p.R2158S|RNF213_ENST00000336301.6_Missense_Mutation_p.R182S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCCGTCGAGGAGCTCTTCAG 0.507000 17 27 6.94344e-10 7.85327e-10 1 1 0 FRMPD2 143162 broad.mit.edu 37 10 49392913 49392913 + Missense_Mutation SNP T T G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:49392913T>G ENST00000374201.3 - 19 2673 c.2371A>C c.(2371-2373)Aat>Cat p.N791H FRMPD2_ENST00000305531.3_Missense_Mutation_p.N766H|FRMPD2_ENST00000407470.4_Missense_Mutation_p.N759H NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 791 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCTCCCTCATTAATGACAAAC 0.398000 4 24 0 0 1 0 0 OSTC 58505 broad.mit.edu 37 4 109578780 109578780 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:109578780A>T ENST00000361564.4 + 3 480 c.408A>T c.(406-408)agA>agT p.R136S OSTC_ENST00000512478.2_Missense_Mutation_p.R136S NM_021227.3 NP_067050.1 Q9NRP0 OSTC_HUMAN oligosaccharyltransferase complex subunit (non-catalytic) 136 integral to membrane|oligosaccharyltransferase complex breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TCATGGCTAGAGTATTCATGA 0.373000 4 12 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101718339 101718339 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:101718339C>G ENST00000254190.3 - 3 2138 c.1663G>C c.(1663-1665)Gag>Cag p.E555Q CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 555 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CACGTCTTCTCAAAGTTTCCC 0.423000 7 24 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14716863 14716863 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:14716863C>T ENST00000284268.6 - 9 1423 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K ANKH_ENST00000535119.1_Missense_Mutation_p.E167K NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 365 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 ACACAGAGTTCTGCAAAGGCA 0.433000 25 18 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57058991 57058991 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:57058991C>G ENST00000301318.3 + 3 486 c.415C>G c.(415-417)Ctg>Gtg p.L139V ZFP28_ENST00000591844.1_Missense_Mutation_p.L139V|AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 139 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) CTACAGGAACCTGGCATCGCT 0.547000 7 44 0 0 1 0 0 AGPAT4 56895 broad.mit.edu 37 6 161560579 161560579 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:161560579C>T ENST00000320285.4 - 8 1129 c.917G>A c.(916-918)tGg>tAg p.W306* AGPAT4_ENST00000457520.2_Nonsense_Mutation_p.W144*|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 306 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CACGAGGGTCCAGGGCCGCCG 0.632000 8 56 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 633453 633453 + Nonsense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:633453G>T ENST00000588649.2 - 1 144 c.60C>A c.(58-60)tgC>tgA p.C20* NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 20 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGCGGCCGCAAGGCCGTA 0.751000 3 4 0.115264 0.115734 1 1 0 SMTN 6525 broad.mit.edu 37 22 31491441 31491441 + Splice_Site SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:31491441G>A ENST00000333137.7 + 12 2003 c.1785G>A c.(1783-1785)atG>atA p.M595I SMTN_ENST00000358743.1_Splice_Site_p.M595I|SMTN_ENST00000347557.2_Splice_Site_p.M595I|SMTN_ENST00000404574.1_Splice_Site_p.M194I NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 595 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 TGGACAAGATGGTATAGCCAG 0.577000 48 15 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652983 46652983 + Missense_Mutation SNP C C G rs138967620 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:46652983C>G ENST00000253255.5 - 1 6236 c.6237G>C c.(6235-6237)caG>caC p.Q2079H NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2079 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GGATGGCCCTCTGAGCCAGGC 0.463000 4 13 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15768964 15768964 + Splice_Site SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:15768964G>A ENST00000381341.2 + 24 2264 c.e24+1 DDX1_ENST00000233084.3_Splice_Site Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AAAAGAAAAGGTAATCTTTGT 0.338000 17 23 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016420 38016420 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:38016420C>G ENST00000261439.4 + 3 1063 c.708C>G c.(706-708)ttC>ttG p.F236L TBC1D1_ENST00000508802.1_Missense_Mutation_p.F236L NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 236 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GCAAGTCCTTCTCCCAGCCCG 0.701000 5 14 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77249651 77249651 + Silent SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:77249651A>G ENST00000376896.3 + 3 810 c.198A>G c.(196-198)cgA>cgG p.R66R RORB_ENST00000396204.2_Silent_p.R77R NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 AACACTGCCGACTGCAGAAGT 0.448000 4 23 0 0 1 0 0 PRRG2 5639 broad.mit.edu 37 19 50086495 50086495 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:50086495C>G ENST00000246794.5 + 2 188 c.19C>G c.(19-21)Ctg>Gtg p.L7V PRRG2_ENST00000596700.1_Intron NM_000951.2 NP_000942.1 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 7 extracellular region|integral to plasma membrane calcium ion binding lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) CCACCCCTCTCTGCTGCTGCT 0.522000 8 39 0 0 1 0 0 GSTK1 373156 broad.mit.edu 37 7 142962365 142962365 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:142962365C>T ENST00000479303.1 + 4 622 c.564C>T c.(562-564)atC>atT p.I188I GSTK1_ENST00000443571.2_Silent_p.I89I|GSTK1_ENST00000409500.3_Intron|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000358406.5_Silent_p.I132I NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 138 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) ATGAAGACATCACCGAGCCGC 0.587000 6 8 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927066 130927066 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:130927066C>T ENST00000261655.4 - 8 943 c.780G>A c.(778-780)gaG>gaA p.E260E RIMBP2_ENST00000536002.1_Silent_p.E168E|RIMBP2_ENST00000535703.1_Silent_p.E168E NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 260 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGTGCTCTCCCTCCAGGCCGA 0.592000 5 57 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133896863 133896863 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:133896863C>A ENST00000427044.2 - 12 1270 c.660G>T c.(658-660)gtG>gtT p.V220V RYK_ENST00000296084.4_Silent_p.V410V P34925 RYK_HUMAN receptor-like tyrosine kinase 406 corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 AAGGCAATATCACCATGGGCT 0.338000 7 23 5.18039e-06 5.56496e-06 1 1 0 BIN1 274 broad.mit.edu 37 2 127806111 127806111 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:127806111C>A ENST00000316724.5 - 19 2184 c.1773G>T c.(1771-1773)agG>agT p.R591S BIN1_ENST00000348750.4_Missense_Mutation_p.R407S|BIN1_ENST00000393041.3_Missense_Mutation_p.R473S|BIN1_ENST00000357970.3_Missense_Mutation_p.R548S|BIN1_ENST00000259238.4_Missense_Mutation_p.R495S|BIN1_ENST00000352848.3_Missense_Mutation_p.R452S|BIN1_ENST00000351659.3_Missense_Mutation_p.R504S|BIN1_ENST00000393040.3_Missense_Mutation_p.R480S|BIN1_ENST00000346226.3_Missense_Mutation_p.R516S|BIN1_ENST00000376113.2_Missense_Mutation_p.R422S|BIN1_ENST00000409400.1_Missense_Mutation_p.R437S NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 591 SH3. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) GTCATGGGACCCTCTCAGTGA 0.552000 12 34 0.00136819 0.00142015 1 1 0 NAGS 162417 broad.mit.edu 37 17 42082124 42082124 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:42082124G>C ENST00000293404.3 + 1 211 c.93G>C c.(91-93)ctG>ctC p.L31L NM_153006.2 NP_694551.1 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 31 arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) CCCGAAGGCTGAGCTGTggcg 0.766000 5 9 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80665430 80665430 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:80665430C>T ENST00000458043.2 + 23 2500 c.2494C>T c.(2494-2496)Cac>Tac p.H832Y OTOGL_ENST00000547103.1_Missense_Mutation_p.H832Y NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATCTGAAGTTCACATCTGCCC 0.393000 11 11 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799096 45799096 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:45799096A>T ENST00000553795.1 - 4 1083 c.775T>A c.(775-777)Tgc>Agc p.C259S OR13A1_ENST00000536058.1_Missense_Mutation_p.C259S|OR13A1_ENST00000374401.2_Missense_Mutation_p.C259S NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TGGGAAGAGCAGGTGGAGAAG 0.557000 6 126 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153930887 153930887 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:153930887C>T ENST00000368633.1 - 1 214 c.87G>A c.(85-87)caG>caA p.Q29Q CRTC2_ENST00000368630.3_Silent_p.Q29Q NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 29 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GACGCTGCTTCTGCAGCGCAA 0.672000 8 25 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109086371 109086371 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:109086371G>A ENST00000309863.6 + 6 1300 c.586G>A c.(586-588)Gag>Aag p.E196K GCC2_ENST00000485546.1_3'UTR NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 196 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AGGCTTTGAGGAGCAAATTTT 0.338000 7 74 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724135 38724135 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:38724135C>T ENST00000342213.2 - 1 1439 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 365 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCCTTTGACTCGGCTTGAAGG 0.493000 11 22 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30408033 30408033 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:30408033G>C ENST00000375994.2 + 2 430 c.157G>C c.(157-159)Gat>Cat p.D53H MYLK2_ENST00000375985.4_Missense_Mutation_p.D53H Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 53 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTGAAGAAAGATGCCAAAGC 0.627000 46 46 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45911714 45911714 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:45911714C>T ENST00000309424.3 + 3 976 c.488C>T c.(487-489)tCa>tTa p.S163L ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.S165L NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 163 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) GGGCCTAGGTCAGCCTTGGCC 0.632000 57 18 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30804866 30804866 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:30804866A>G ENST00000383096.3 - 17 1873 c.1691T>C c.(1690-1692)cTt>cCt p.L564P CCDC178_ENST00000403303.1_Missense_Mutation_p.L564P|CCDC178_ENST00000402325.1_Missense_Mutation_p.L564P|CCDC178_ENST00000406524.2_Missense_Mutation_p.L564P|CCDC178_ENST00000300227.8_Missense_Mutation_p.L564P|CCDC178_ENST00000583930.1_Missense_Mutation_p.L564P|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.L564P coiled-coil domain containing 178 TTTCCGCTCAAGTGCCTGGAC 0.353000 3 12 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27852609 27852609 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr21:27852609T>C ENST00000299340.4 - 3 659 c.316A>G c.(316-318)Acc>Gcc p.T106A CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Missense_Mutation_p.T106A|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 106 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GAGGAGACGGTGTTGATGTGA 0.507000 11 163 0 0 1 0 0 ARIH2OS 646450 broad.mit.edu 37 3 48956225 48956225 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:48956225C>T ENST00000408959.2 - 1 593 c.358G>A c.(358-360)Gtc>Atc p.V120I NM_001123040.1 NP_001116512.1 ariadne homolog 2 opposite strand ACCCGAGCGACCGTGGGTCGA 0.667000 8 16 0 0 1 0 0 HADHB 3032 broad.mit.edu 37 2 26507037 26507037 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:26507037G>A ENST00000317799.5 + 13 1218 c.1114G>A c.(1114-1116)Gat>Aat p.D372N HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.D249N|HADHB_ENST00000545822.1_Missense_Mutation_p.D350N|HADHB_ENST00000537713.1_Missense_Mutation_p.D357N NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 372 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACCATGAATGATATTGATGC 0.299000 20 39 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17602402 17602402 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:17602402A>G ENST00000377813.1 - 15 3560 c.3257T>C c.(3256-3258)cTg>cCg p.L1086P RRBP1_ENST00000246043.4_Missense_Mutation_p.L1086P|RRBP1_ENST00000360807.4_Missense_Mutation_p.L653P|RRBP1_ENST00000455029.2_Missense_Mutation_p.L427P|RRBP1_ENST00000377807.2_Missense_Mutation_p.L653P|RRBP1_ENST00000470422.1_5'UTR Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1086 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GAGATCCTGCAGCCACTCGGT 0.607000 12 19 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18156960 18156960 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:18156960G>C ENST00000327031.4 - 8 978 c.753C>G c.(751-753)ctC>ctG p.L251L FLII_ENST00000379450.4_Silent_p.L166L|FLII_ENST00000579294.1_Silent_p.L240L|FLII_ENST00000584444.1_Intron|FLII_ENST00000545457.2_Silent_p.L197L|FLII_ENST00000578558.1_Silent_p.L251L NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 251 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TGCTGAGGTTGAGGCGGCGCA 0.612000 22 9 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41268817 41268817 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:41268817G>A ENST00000349496.5 + 7 1335 c.1055G>A c.(1054-1056)aGt>aAt p.S352N CTNNB1_ENST00000405570.1_Missense_Mutation_p.S352N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S352N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S352N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S345N NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 352 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GTCTGCTCTAGTAATAAGCCG 0.388000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 7 42 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100119577 100119577 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:100119577C>T ENST00000284320.5 - 1 665 c.217G>A c.(217-219)Gac>Aac p.D73N NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 73 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 CCGCTGGCGTCGCCCCGGCCT 0.731000 3 5 0 0 1 0 0 ASNA1 439 broad.mit.edu 37 19 12849348 12849348 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:12849348C>G ENST00000591090.1 + 3 287 c.185C>G c.(184-186)tCc>tGc p.S62C ASNA1_ENST00000357332.3_Missense_Mutation_p.S62C O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 62 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) GTCCAGCTCTCCAAGGGGCGT 0.527000 21 33 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56954107 56954107 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:56954107G>A ENST00000504904.3 - 7 976 c.257C>T c.(256-258)tCg>tTg p.S86L ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.S214L|ZNF667_ENST00000292069.6_Missense_Mutation_p.S86L Q5HYK9 ZN667_HUMAN zinc finger protein 667 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTTAGACCCCGAGTCTGAAAG 0.343000 4 33 0 0 1 0 0 RNF13 11342 broad.mit.edu 37 3 149619891 149619891 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:149619891G>T ENST00000344229.3 + 7 1144 c.442G>T c.(442-444)Gtc>Ttc p.V148F RNF13_ENST00000361785.6_Missense_Mutation_p.V29F|RNF13_ENST00000392894.3_Missense_Mutation_p.V148F NM_007282.4 NP_009213.1 O43567 RNF13_HUMAN ring finger protein 13 148 PA. protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 11 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CATTCCATCTGTCTTTATTGG 0.269000 22 17 5.35047e-06 5.73515e-06 1 1 0 ANKEF1 63926 broad.mit.edu 37 20 10036257 10036257 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:10036257G>A ENST00000378380.3 + 10 2609 c.2280G>A c.(2278-2280)caG>caA p.Q760Q SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.Q760Q NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TGCCTTTTCAGAAGAACATCA 0.483000 12 36 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135311064 135311064 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:135311064C>G ENST00000285968.6 + 33 4774 c.4748C>G c.(4747-4749)gCt>gGt p.A1583G NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1583 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GTGAGACTAGCTCAATGCCAA 0.443000 12 38 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120884286 120884286 + Missense_Mutation SNP C C T rs148996529 byFrequency TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:120884286C>T ENST00000310396.5 + 18 2671 c.2204C>T c.(2203-2205)tCg>tTg p.S735L CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.S735L(1) CTTAGTTGTTCGGACAACAGG 0.468000 39 32 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38884571 38884571 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr21:38884571A>T ENST00000339659.4 + 11 3472 c.2002A>T c.(2002-2004)Aat>Tat p.N668Y DYRK1A_ENST00000455387.2_Missense_Mutation_p.N449Y|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.N677Y NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A Poly-Ser.|Ser/Thr-rich. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TAACCAAGGCAATCAGGCCTA 0.507000 6 119 0 0 1 0 0 EI24 9538 broad.mit.edu 37 11 125448125 125448125 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:125448125G>A ENST00000278903.6 + 6 655 c.413G>A c.(412-414)aGc>aAc p.S138N EI24_ENST00000343678.4_Missense_Mutation_p.S138N|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 138 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TTTGTGCTTAGCAAAGTGGTG 0.502000 46 28 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461150 141461150 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:141461150G>C ENST00000389328.4 - 2 631 c.617C>G c.(616-618)tCc>tGc p.S206C TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S108C|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S108C NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 108 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 ATACAGTGTGGAGCCGTAGAT 0.592000 21 57 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75650805 75650805 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:75650805C>T ENST00000565683.1 - 20 2463 c.2452G>A c.(2452-2454)Gag>Aag p.E818K MAN2C1_ENST00000563622.1_Missense_Mutation_p.E702K|MAN2C1_ENST00000569482.1_Missense_Mutation_p.E801K|MAN2C1_ENST00000267978.5_Missense_Mutation_p.E801K NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 801 R -> H (in dbSNP:rs58557444). mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CCGACTACCTCGGTGTGGAAG 0.627000 3 35 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107022191 107022191 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:107022191C>T ENST00000369701.3 + 26 3773 c.3546C>T c.(3544-3546)ctC>ctT p.L1182L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1182 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAATCACACTCAGTGACTTTA 0.512000 9 20 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47479629 47479629 + Splice_Site SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:47479629C>A ENST00000285039.7 - 14 2052 c.e14+1 NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ACACTCTTTACCTTGCTGGCC 0.537000 3 12 0.00909568 0.00930369 1 1 0 TCTN2 79867 broad.mit.edu 37 12 124171451 124171451 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:124171451C>G ENST00000303372.5 + 6 761 c.633C>G c.(631-633)gtC>gtG p.V211V TCTN2_ENST00000426174.2_Silent_p.V210V NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 211 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GAGGAGACGTCAATCCTCCTT 0.527000 10 103 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369552 56369552 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:56369552C>T ENST00000301295.6 + 3 1215 c.793C>T c.(793-795)Ctg>Ttg p.L265L NLRP4_ENST00000346986.5_Silent_p.L265L|NLRP4_ENST00000587891.1_Silent_p.L190L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 265 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAGCAGTTTGCTGAGGAAGAA 0.572000 12 97 0 0 1 0 0 COG1 9382 broad.mit.edu 37 17 71202315 71202315 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:71202315C>G ENST00000299886.4 + 11 2613 c.2533C>G c.(2533-2535)Ctg>Gtg p.L845V NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 845 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GACTGACCACCTGGAAGCCCT 0.428000 16 46 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825998 122825998 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:122825998G>T ENST00000358808.2 - 10 1874 c.1720C>A c.(1720-1722)Cag>Aag p.Q574K CLIP1_ENST00000545889.1_Missense_Mutation_p.Q275K|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q539K|CLIP1_ENST00000540338.1_Missense_Mutation_p.Q585K|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q574K|CLIP1_ENST00000361654.4_Missense_Mutation_p.Q539K NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 585 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATCTCCTTCTGATGAGTTTCT 0.448000 24 114 1.10923e-09 1.24884e-09 1 1 0 PREP 5550 broad.mit.edu 37 6 105726282 105726282 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:105726282C>T ENST00000369110.3 - 15 2062 c.1870G>A c.(1870-1872)Gaa>Aaa p.E624K NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 624 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) tcatctgcttctggtaacttc 0.507000 17 10 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228883 142228883 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:142228883C>T ENST00000519067.1 - 4 1006 c.703G>A c.(703-705)Gag>Aag p.E235K SLC45A4_ENST00000433583.2_Missense_Mutation_p.E228K|SLC45A4_ENST00000024061.3_Missense_Mutation_p.E235K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.E286K Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 286 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GACTGTACCTCGTCTGGGAAG 0.687000 28 132 0 0 1 0 0 PTPDC1 138639 broad.mit.edu 37 9 96846860 96846860 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:96846860C>T ENST00000288976.3 + 1 115 c.48C>T c.(46-48)ctC>ctT p.L16L PTPDC1_ENST00000375360.3_Intron NM_001253829.1|NM_152422.4 NP_001240758.1|NP_689635.3 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 0 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TGCGCTTCCTCAGCTCCTTTC 0.682000 35 11 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19136462 19136462 + Missense_Mutation SNP T T G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:19136462T>G ENST00000601879.1 - 3 992 c.695A>C c.(694-696)cAg>cCg p.Q232P SUGP2_ENST00000452918.2_Missense_Mutation_p.Q232P|SUGP2_ENST00000600377.1_Missense_Mutation_p.Q246P|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000337018.6_Missense_Mutation_p.Q232P Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 232 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GAGCAGGCCCTGAGTCTCCCC 0.517000 19 31 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38296863 38296863 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:38296863C>T ENST00000264645.7 + 1 288 c.62C>T c.(61-63)tCg>tTg p.S21L NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 21 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 TCTGGTGCTTCGGGCTCcgac 0.716000 16 18 0 0 1 0 0 IGHV4-39 28394 broad.mit.edu 37 14 106878026 106878026 + RNA SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:106878026C>T ENST00000390619.2 - 0 100 GAGCCGCCACCAGCAGGAGGA 0.488000 9 11 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161479774 161479774 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:161479774G>T ENST00000271450.6 + 4 567 c.529G>T c.(529-531)Gca>Tca p.A177S FCGR2A_ENST00000367972.4_Missense_Mutation_p.A176S NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 177 Ig-like C2-type 2. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATCCCACAAGCAAACCACAG 0.502000 9 70 2.74318e-10 3.10978e-10 1 1 0 FBXL19 54620 broad.mit.edu 37 16 30939803 30939803 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:30939803G>C ENST00000338343.4 + 6 1030 c.643G>C c.(643-645)Gag>Cag p.E215Q FBXL19_ENST00000565690.1_Missense_Mutation_p.E142Q|FBXL19_ENST00000380310.2_Missense_Mutation_p.E235Q|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Missense_Mutation_p.E215Q Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 235 Pro-rich. DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 AGGAGGCCGAGAGAGGCACCT 0.632000 10 8 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38271223 38271223 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:38271223G>A ENST00000447712.2 - 18 3333 c.2392C>T c.(2392-2394)Cat>Tat p.H798Y FGFR1_ENST00000335922.5_Missense_Mutation_p.H788Y|FGFR1_ENST00000397113.2_Missense_Mutation_p.H796Y|FGFR1_ENST00000397103.1_Missense_Mutation_p.H709Y|FGFR1_ENST00000532791.1_Missense_Mutation_p.H796Y|FGFR1_ENST00000425967.3_Missense_Mutation_p.H829Y|FGFR1_ENST00000397108.4_Missense_Mutation_p.H796Y|FGFR1_ENST00000326324.6_Missense_Mutation_p.H707Y|FGFR1_ENST00000397091.5_Missense_Mutation_p.H796Y|FGFR1_ENST00000356207.5_Missense_Mutation_p.H709Y|FGFR1_ENST00000341462.5_Missense_Mutation_p.H798Y NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 798 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AGCGGCTCATGAGAGAAGACG 0.662000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 5 27 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1158733 1158733 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:1158733G>A ENST00000263741.7 - 4 760 c.468C>T c.(466-468)caC>caT p.H156H SDF4_ENST00000545427.1_Silent_p.H156H|SDF4_ENST00000360001.6_Silent_p.H156H NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 156 EF-hand 2. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) CCCAAGACACGTGACCTGGAA 0.537000 5 42 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11007860 11007860 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:11007860C>G ENST00000377004.4 - 12 2331 c.2332G>C c.(2332-2334)Gaa>Caa p.E778Q C1orf127_ENST00000377008.4_Missense_Mutation_p.E611Q NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 629 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) AAGGGGTATTCAAGCTCCACC 0.642000 5 22 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943015 144943015 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:144943015G>C ENST00000525985.1 - 2 4478 c.4407C>G c.(4405-4407)ctC>ctG p.L1469L P58107 EPIPL_HUMAN epiplakin 1 1469 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCAGGTCCCAGAGTGACACGC 0.647000 6 27 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100691270 100691270 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100691270G>A ENST00000306151.4 + 4 12473 c.12409G>A c.(12409-12411)Gga>Aga p.G4137R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4137 EGF-like. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACAGGCTTTGGAGATGGGTG 0.517000 13 109 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89949431 89949431 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:89949431C>G ENST00000405460.2 + 20 4136 c.4040C>G c.(4039-4041)tCc>tGc p.S1347C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1347 S -> F (in Ref. 2; AAL30811). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACCATCCCTCCAGGAATAAT 0.448000 6 6 0 0 1 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702779 40702779 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:40702779G>T ENST00000356699.5 + 4 465 c.436G>T c.(436-438)Gct>Tct p.A146S SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 GGAAGATGCTGCTCCCATTCT 0.592000 19 337 3.51602e-12 4.05124e-12 1 1 0 AKR1E2 83592 broad.mit.edu 37 10 4889710 4889710 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:4889710C>A ENST00000298375.7 + 10 1022 c.951C>A c.(949-951)caC>caA p.H317Q AKR1E2_ENST00000334019.4_Missense_Mutation_p.H260Q|AKR1E2_ENST00000345253.5_Missense_Mutation_p.H219Q NM_001040177.2 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 317 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 ATCCTTTCCACATAGAATACT 0.378000 7 27 3.09899e-07 3.35837e-07 1 1 0 SFI1 9814 broad.mit.edu 37 22 31971290 31971290 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:31971290G>A ENST00000432498.1 + 10 1389 c.996G>A c.(994-996)cgG>cgA p.R332R SFI1_ENST00000414585.1_Silent_p.R179R|SFI1_ENST00000400289.1_Silent_p.R250R|SFI1_ENST00000443011.1_Silent_p.R179R|SFI1_ENST00000400288.2_Silent_p.R332R|SFI1_ENST00000443326.1_Silent_p.R250R|SFI1_ENST00000540643.1_Silent_p.R308R NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 332 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CCTGGGAGCGGAGGGAGAGCT 0.537000 4 63 0 0 1 0 0 TRAV8-7 28679 broad.mit.edu 37 14 22600733 22600733 + RNA SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:22600733C>T ENST00000390456.3 + 0 78 AGCTTGATGGCCACATCACTG 0.478000 12 22 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214816648 214816648 + Missense_Mutation SNP T T G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:214816648T>G ENST00000366955.3 + 12 5135 c.4967T>G c.(4966-4968)cTt>cGt p.L1656R NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1752 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CGGTCTTTGCTTGGCATCGAC 0.433000 9 37 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461478 11461478 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:11461478G>C ENST00000279575.1 - 3 472 c.439C>G c.(439-441)Caa>Gaa p.Q147E PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.Q147E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 210 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TTACCTCCTTGTGGGGGTGGT 0.612000 HNSCC(22;0.051) 24 412 0 0 1 0 0 SRSF8 10929 broad.mit.edu 37 11 94801255 94801255 + RNA SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:94801255G>C ENST00000529911.1 + 0 895 NM_032102.3 NP_115285.1 Q9BRL6 SRSF8_HUMAN serine/arginine-rich splicing factor 8 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding GATGCATCAGGAAGCAACGTG 0.488000 4 6 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25448388 25448388 + Splice_Site SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr13:25448388G>T ENST00000255324.5 + 33 4635 c.e33+1 RNF17_ENST00000339524.3_Splice_Site|RNF17_ENST00000381921.1_Splice_Site NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CATTAAACAGGTTAAAAATAA 0.279000 3 12 0.115264 0.115734 1 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156698781 156698781 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:156698781G>C ENST00000264424.8 + 4 366 c.284G>C c.(283-285)aGa>aCa p.R95T GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R27T|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R75T|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R95T|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R95T|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R27T|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R27T NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 95 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) TCTAATGTCAGAGAATTTCTA 0.368000 33 23 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767545 181767545 + Missense_Mutation SNP A A C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:181767545A>C ENST00000526775.1 + 46 6496 c.6331A>C c.(6331-6333)Agc>Cgc p.S2111R CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1737R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2124R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2062R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2173R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2130R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2154R NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2173 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCTTTCCTACAGCTCCCTGAT 0.627000 63 81 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133070833 133070833 + Splice_Site SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:133070833C>A ENST00000326499.6 - 6 1496 c.e6+1 VNN2_ENST00000525289.1_Splice_Site|VNN2_ENST00000525270.1_Splice_Site NM_004665.2 NP_004656 O95498 VNN2_HUMAN vanin 2 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) AGTCCTCTTACCTCAAATTTT 0.363000 9 8 0.00448238 0.0046428 1 1 0 KCNQ4 9132 broad.mit.edu 37 1 41285618 41285618 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:41285618C>G ENST00000347132.5 + 6 988 c.906C>G c.(904-906)ggC>ggG p.G302G KCNQ4_ENST00000509682.2_Silent_p.G302G|KCNQ4_ENST00000506017.1_3'UTR NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 302 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGGCTGCTGGCTTCGCCTTAC 0.587000 15 83 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468635 56468635 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:56468635T>C ENST00000312153.1 + 1 772 c.772T>C c.(772-774)Tac>Cac p.Y258H NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TCTCTACATCTACGCTCTCCC 0.448000 17 148 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28375377 28375377 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:28375377C>G ENST00000261609.7 - 83 12842 c.12734G>C c.(12733-12735)gGg>gCg p.G4245A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4245 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCCCTGCAACCCTTGGACCTG 0.567000 33 129 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30615726 30615726 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:30615726C>G ENST00000287461.3 - 3 1699 c.1362G>C c.(1360-1362)gaG>gaC p.E454D RP11-146F11.5_ENST00000563540.1_RNA NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GGAAAGGCTTCTCCCCCGTGT 0.642000 11 22 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56470287 56470287 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:56470287C>T ENST00000370754.5 - 39 9039 c.9040G>A c.(9040-9042)Gaa>Aaa p.E3014K DST_ENST00000361203.3_Missense_Mutation_p.E2836K|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E2836K|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E2836K|DST_ENST00000446842.2_Missense_Mutation_p.E2510K Q03001 DYST_HUMAN dystonin 2836 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATTGATGTTTCATCTTCTATT 0.368000 17 44 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78582407 78582407 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:78582407G>C ENST00000397909.2 + 33 6078 c.5905G>C c.(5905-5907)Gat>Cat p.D1969H NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Missense_Mutation_p.D1770H|NAV3_ENST00000228327.6_Missense_Mutation_p.D1947H|NAV3_ENST00000536525.2_Missense_Mutation_p.D1947H Q8IVL0 NAV3_HUMAN neuron navigator 3 1969 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATTCCGAATTGATACATCCAC 0.383000 HNSCC(70;0.22) 16 21 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40705616 40705616 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:40705616G>C ENST00000372771.4 + 8 5269 c.5242G>C c.(5242-5244)Gag>Cag p.E1748Q NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1748 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TGTCCCAAAAGAGAATTTTAG 0.378000 20 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579168 179579168 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:179579168C>T ENST00000589042.1 - 91 26557 c.26333G>A c.(26332-26334)aGa>aAa p.R8778K TTN_ENST00000591111.1_Missense_Mutation_p.R8461K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7534K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8461 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) GTCACTTTCTCTAACGATTTC 0.403000 15 15 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21103106 21103106 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:21103106C>G ENST00000312239.5 - 4 473 c.334G>C c.(334-336)Gag>Cag p.E112Q HP1BP3_ENST00000375000.1_Missense_Mutation_p.E112Q|HP1BP3_ENST00000487117.1_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 112 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TTGGTTTCCTCAGAAGACTTA 0.368000 20 35 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7086832 7086832 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:7086832G>A ENST00000261407.4 - 10 1201 c.1116C>T c.(1114-1116)ctC>ctT p.L372L LPCAT3_ENST00000535021.1_Intron NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 372 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 GGCCGTGCCAGAGGGCCAGGA 0.532000 57 80 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63133669 63133669 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:63133669G>T ENST00000449996.3 + 1 83 c.11G>T c.(10-12)cGa>cTa p.R4L RGS9_ENST00000262406.9_Missense_Mutation_p.R4L|RGS9_ENST00000443584.3_Missense_Mutation_p.R4L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 4 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ATGACAATCCGACACCAAGGC 0.627000 5 50 0.014758 0.0150019 1 1 0 ARIH2OS 646450 broad.mit.edu 37 3 48956243 48956243 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:48956243C>T ENST00000408959.2 - 1 575 c.340G>A c.(340-342)Gat>Aat p.D114N NM_001123040.1 NP_001116512.1 ariadne homolog 2 opposite strand CGACCCCGATCCGGAAGTGAC 0.682000 9 15 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183600882 183600882 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:183600882G>C ENST00000511685.1 + 8 1513 c.1390G>C c.(1390-1392)Gag>Cag p.E464Q TENM3_ENST00000406950.2_Missense_Mutation_p.E464Q teneurin transmembrane protein 3 GAGCCTGCTTGAGACGGAGAG 0.542000 8 39 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100345823 100345823 + RNA SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100345823A>G ENST00000542585.1 + 0 1235 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCAACCAGCATTGCTCCTTG 0.597000 3 28 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40534543 40534543 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:40534543G>T ENST00000324817.1 - 22 3069 c.2951C>A c.(2950-2952)cCc>cAc p.P984H MED14_ENST00000496531.2_5'UTR NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 984 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGGAGAAGGGGGATTATCGTC 0.418000 8 9 1.76689e-08 1.96677e-08 1 1 0 SP6 80320 broad.mit.edu 37 17 45925060 45925060 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:45925060C>T ENST00000536300.1 - 2 1067 c.736G>A c.(736-738)Gat>Aat p.D246N SP6_ENST00000342234.2_Missense_Mutation_p.D246N NM_001258248.1 NP_001245177.1 Q3SY56 SP6_HUMAN Sp6 transcription factor 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 TTGCCCCCATCGGGCCCACAT 0.672000 10 23 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130493182 130493182 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr9:130493182C>T ENST00000373289.3 + 14 2200 c.2120C>T c.(2119-2121)tCc>tTc p.S707F TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 707 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 AAGAGGAACTCCAGCAAGACC 0.627000 40 21 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295310 62295310 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:62295310C>G ENST00000378024.4 - 5 6853 c.6579G>C c.(6577-6579)ttG>ttC p.L2193F AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2193 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGCCTTTCAAGTTTAAGT 0.473000 39 153 0 0 1 0 0 TREM2 54209 broad.mit.edu 37 6 41126514 41126514 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:41126514C>T ENST00000338469.3 - 4 590 c.487G>A c.(487-489)Gag>Aag p.E163K TREM2_ENST00000373122.4_3'UTR|TREM2_ENST00000373113.3_Silent_p.L227L NM_001271821.1 NP_001258750.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 162 axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) ACGTGTCTCTCAGCCCTGCAA 0.612000 76 22 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156102 22156102 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:22156102C>G ENST00000397126.4 - 4 1882 c.1734G>C c.(1732-1734)gaG>gaC p.E578D ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 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) TGTAGGGTTTCTCTACAGTAT 0.353000 3 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430194 179430194 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:179430194A>G ENST00000589042.1 - 326 80889 c.80665T>C c.(80665-80667)Tat>Cat p.Y26889H TTN_ENST00000591111.1_Missense_Mutation_p.Y25248H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y18016H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y17824H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17949H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24321H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25248 Fibronectin type-III 95. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TGGATACTATATGTGTTAAAT 0.383000 21 33 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50865444 50865444 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:50865444G>C ENST00000253719.2 - 2 418 c.210C>G c.(208-210)ctC>ctG p.L70L NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 70 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TGTAGTTCGAGAGAGGTACGA 0.582000 5 49 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13069762 13069762 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:13069762C>T ENST00000506447.1 + 27 5161 c.5081C>T c.(5080-5082)tCa>tTa p.S1694L CEP192_ENST00000325971.8_Missense_Mutation_p.S1098L|CEP192_ENST00000430049.2_Missense_Mutation_p.S1219L NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1289 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGTCACTTTTCAGTGGATCCA 0.398000 15 22 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446221 10446221 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:10446221C>G ENST00000326756.3 - 3 2170 c.1732G>C c.(1732-1734)Gag>Cag p.E578Q NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TTGTGTTCCTCTGTCTGGTTA 0.378000 28 17 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684592 100684592 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100684592A>G ENST00000306151.4 + 3 9959 c.9895A>G c.(9895-9897)Agc>Ggc p.S3299G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3299 59 X approximate tandem repeats.|Ser-rich. S -> N (in dbSNP:rs35988443). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCTGAAACGAGCACCCTTTC 0.507000 36 332 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 59 0 0 1 0 0 FAM102B 284611 broad.mit.edu 37 1 109143230 109143230 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:109143230C>T ENST00000370035.3 + 2 520 c.180C>T c.(178-180)ttC>ttT p.F60F FAM102B_ENST00000405454.1_Silent_p.F60F NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 60 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) GAAAGAAGTTCTCATTTATGT 0.378000 10 12 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20097954 20097954 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:20097954C>A ENST00000294543.6 - 5 442 c.201G>T c.(199-201)atG>atT p.M67I TMCO4_ENST00000375122.2_Missense_Mutation_p.M67I|TMCO4_ENST00000375127.1_Missense_Mutation_p.M67I NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 67 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CCAGGCCTGCCATGAACTCTG 0.542000 17 9 9.16793e-09 1.02748e-08 1 1 0 FAM129A 116496 broad.mit.edu 37 1 184792383 184792383 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:184792383C>G ENST00000367511.3 - 8 1096 c.903G>C c.(901-903)ctG>ctC p.L301L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 301 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GGCCCTTTGTCAGAGCTCTGC 0.448000 14 64 0 0 1 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83876122 83876122 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:83876122G>C ENST00000299633.4 - 1 648 c.45C>G c.(43-45)gtC>gtG p.V15V RP11-382A20.4_ENST00000565495.1_RNA NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 15 PWWP. cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 TCTTGGCGAAGACCAGGTCGC 0.721000 6 2 0 0 1 0 0 TECR 9524 broad.mit.edu 37 19 14675641 14675641 + Missense_Mutation SNP A A C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:14675641A>C ENST00000600083.1 + 8 701 c.68A>C c.(67-69)tAc>tCc p.Y23S TECR_ENST00000215567.5_Missense_Mutation_p.Y178S|TECR_ENST00000596073.1_Missense_Mutation_p.Y23S|TECR_ENST00000436007.2_Missense_Mutation_p.Y193S Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 178 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 ATGGCCTATTACATCAATCAC 0.622000 8 26 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84209813 84209813 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:84209813A>G ENST00000378553.5 + 11 2097 c.1973A>G c.(1972-1974)cAg>cGg p.Q658R DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 658 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CCCTCTGGCCAGCTACTGATG 0.552000 7 22 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58154324 58154324 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:58154324C>T ENST00000295956.4 + 44 7521 c.7356C>T c.(7354-7356)atC>atT p.I2452I FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000490882.1_Silent_p.I2483I|FLNB_ENST00000358537.3_Silent_p.I2428I|FLNB_ENST00000429972.2_Silent_p.I2441I|FLNB_ENST00000419752.2_Silent_p.I2272I|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Silent_p.I2259I|FLNB_ENST00000348383.5_Silent_p.I2411I NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2452 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACTACCTGATCAGCGTCAAAT 0.527000 14 19 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100252740 100252740 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:100252740C>T ENST00000160382.5 - 4 377 c.271G>A c.(271-273)Gag>Aag p.E91K NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 91 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCCCAGTCCTCGACTGGGGCC 0.597000 4 23 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 64128821 64128821 + Silent SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:64128821T>C ENST00000392769.2 - 5 749 c.531A>G c.(529-531)agA>agG p.R177R CEP112_ENST00000537949.1_Silent_p.R177R|CEP112_ENST00000535342.2_Silent_p.R177R NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 177 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 GTCCATCTTCTCTGTGAGTTG 0.358000 3 21 0 0 1 0 0 GPX7 2882 broad.mit.edu 37 1 53072500 53072500 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:53072500G>C ENST00000361314.4 + 2 321 c.283G>C c.(283-285)Gac>Cac p.D95H GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 95 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) ACAGGAGCCTGACAGCAACAA 0.592000 12 66 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101604195 101604195 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:101604195C>T ENST00000370449.4 + 28 4073 c.3960C>T c.(3958-3960)atC>atT p.I1320I NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1320 ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCAGAGGGATCACTTGTGACA 0.532000 17 41 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619078 57619078 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:57619078C>G ENST00000374888.1 + 1 810 c.597C>G c.(595-597)gcC>gcG p.A199A NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 AGCCAGGGGCCGCTCCTGCCC 0.701000 5 7 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271379 59271379 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:59271379G>C ENST00000313253.1 + 1 331 c.331G>C c.(331-333)Gac>Cac p.D111H NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TGGTGGGGCAGACATTTTTTC 0.478000 23 48 0 0 1 0 0 PNKD 25953 broad.mit.edu 37 2 219136173 219136173 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:219136173C>T ENST00000273077.4 + 2 188 c.137C>T c.(136-138)tCc>tTc p.S46F PNKD_ENST00000248451.3_Missense_Mutation_p.S46F|PNKD_ENST00000472650.1_3'UTR NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 46 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCACAGCTCCCCAGAGGGC 0.572000 52 21 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110437768 110437768 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr13:110437768C>G ENST00000375856.3 - 1 1147 c.633G>C c.(631-633)aaG>aaC p.K211N NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 211 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CCGTCAGGTTCTTGCTCTGGC 0.662000 8 17 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154684052 154684052 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:154684052G>A ENST00000404039.1 + 26 2855 c.2268G>A c.(2266-2268)ccG>ccA p.P756P DPP6_ENST00000332007.3_Silent_p.P758P|DPP6_ENST00000427557.1_Silent_p.P713P|DPP6_ENST00000377770.3_Silent_p.P820P NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 820 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGATTTACCCGGACGAAAGCC 0.517000 18 37 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948266 119948266 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:119948266G>C ENST00000307142.4 + 3 938 c.742G>C c.(742-744)Gag>Cag p.E248Q SYNPO2_ENST00000429713.2_Missense_Mutation_p.E248Q|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E248Q|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 248 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCCTACTAATGAGAAAGCAGA 0.483000 20 10 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75643144 75643144 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:75643144G>A ENST00000451157.1 - 5 538 c.369C>T c.(367-369)ccC>ccT p.P123P STYXL1_ENST00000431581.1_Silent_p.P123P|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000359697.3_Silent_p.P123P|STYXL1_ENST00000248600.1_Silent_p.P123P Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 123 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 GGATGTAGACGGGGTGGTGGG 0.547000 84 100 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166032871 166032871 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:166032871C>T ENST00000360093.3 - 3 525 c.34G>A c.(34-36)Gaa>Aaa p.E12K SCN3A_ENST00000409101.3_Missense_Mutation_p.E12K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E12K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 12 voltage-gated sodium channel complex voltage-gated sodium channel activity 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) CGGAAGCTTTCAGGTCCTGGG 0.418000 35 48 0 0 1 0 0 RIOK3 8780 broad.mit.edu 37 18 21044225 21044225 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:21044225C>A ENST00000339486.3 + 4 998 c.381C>A c.(379-381)agC>agA p.S127R RIOK3_ENST00000577501.1_Missense_Mutation_p.S127R|RIOK3_ENST00000581585.1_Missense_Mutation_p.S111R NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 127 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) ACAGCGATAGCTCTGAAGATG 0.393000 8 8 0.000442599 0.000464305 1 1 0 TBP 6908 broad.mit.edu 37 6 170866126 170866126 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:170866126G>A ENST00000392092.2 + 2 288 c.9G>A c.(7-9)caG>caA p.Q3Q TBP_ENST00000540980.1_Intron|TBP_ENST00000230354.6_Silent_p.Q3Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 3 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) TCATGGATCAGAACAACAGCC 0.493000 12 54 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19365415 19365415 + Silent SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:19365415T>C ENST00000263208.5 - 14 1846 c.1590A>G c.(1588-1590)gcA>gcG p.A530A HIRA_ENST00000546308.1_Silent_p.A486A|HIRA_ENST00000541063.1_Silent_p.A486A|HIRA_ENST00000340170.4_Silent_p.A530A NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 530 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CAGAATCGCCTGCAGGTCTGG 0.542000 70 46 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232541 81232541 + RNA SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:81232541G>T ENST00000337114.4 - 0 1268 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCTCCAGGCGGTGCCTCCCAG 0.577000 61 29 2.02627e-32 2.39071e-32 1 1 0 ITGA9 3680 broad.mit.edu 37 3 37792018 37792018 + Silent SNP C C G rs145492361 TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:37792018C>G ENST00000264741.5 + 23 2755 c.2499C>G c.(2497-2499)ctC>ctG p.L833L AC093415.2_ENST00000449586.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 833 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CTAATCGACTCTCATCTGGTG 0.483000 6 66 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139257861 139257861 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:139257861G>C ENST00000406875.3 - 15 3503 c.3409C>G c.(3409-3411)Cca>Gca p.P1137A HIPK2_ENST00000428878.2_Missense_Mutation_p.P1110A NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 1137 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) ATGCTGGCTGGGTAGGCAGTG 0.701000 7 8 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389858 150389858 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:150389858G>T ENST00000223293.5 + 3 578 c.484G>T c.(484-486)Gac>Tac p.D162Y NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 162 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTACATGCACGACTCAGATAA 0.502000 4 49 0.00909568 0.00930369 1 1 0 DMXL1 1657 broad.mit.edu 37 5 118582714 118582714 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:118582714C>G ENST00000311085.8 + 43 8964 c.8884C>G c.(8884-8886)Ctt>Gtt p.L2962V DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.L2983V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2962 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TACCTTTGGTCTTCTCCATAC 0.403000 14 16 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119588914 119588914 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:119588914C>T ENST00000267260.4 + 10 1557 c.1169C>T c.(1168-1170)tCc>tTc p.S390F NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 390 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AAAGGGTGTTCCCGCAGCTCC 0.592000 7 42 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725572 32725572 + Silent SNP G G A rs116284473 byFrequency TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:32725572G>A ENST00000435145.2 - 4 796 c.735C>T c.(733-735)atC>atT p.I245I HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.I245I Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 TGTGACGGATGATAAGGCCCA 0.557000 7 23 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52595922 52595922 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:52595922C>G ENST00000356770.4 - 24 4055 c.4053G>C c.(4051-4053)atG>atC p.M1351I PBRM1_ENST00000394830.3_Missense_Mutation_p.M1331I|PBRM1_ENST00000409114.3_Missense_Mutation_p.M1398I|PBRM1_ENST00000410007.1_Missense_Mutation_p.M1358I|PBRM1_ENST00000296302.7_Missense_Mutation_p.M1383I|PBRM1_ENST00000409767.1_Missense_Mutation_p.M1398I|PBRM1_ENST00000409057.1_Missense_Mutation_p.M1383I|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.M1383I Q86U86 PB1_HUMAN polybromo 1 1383 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TGTAGCCACTCATGTTGATTT 0.498000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 10 80 0 0 1 0 0 ACKR3 57007 broad.mit.edu 37 2 237489981 237489981 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:237489981C>T ENST00000272928.3 + 2 1183 c.873C>T c.(871-873)caC>caT p.H291H NM_020311.2 NP_064707.1 atypical chemokine receptor 3 GGCTGGAGCACGCCCTCTTCA 0.592000 19 39 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31810098 31810098 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:31810098C>T ENST00000446923.2 + 7 2178 c.1787C>T c.(1786-1788)tCa>tTa p.S596L ZEB1_ENST00000361642.5_Missense_Mutation_p.S613L|ZEB1_ENST00000560721.2_Missense_Mutation_p.S592L|ZEB1_ENST00000542815.3_Missense_Mutation_p.S545L|ZEB1_ENST00000320985.10_Missense_Mutation_p.S612L|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 612 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 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) GAAGAGCTCTCAAAAATTGCT 0.403000 15 25 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30596527 30596527 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:30596527C>T ENST00000395216.2 - 2 409 c.250G>A c.(250-252)Gaa>Aaa p.E84K ZNF785_ENST00000470110.1_Missense_Mutation_p.E84K NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 GCCTCCACTTCTCCTTCCACC 0.577000 13 16 0 0 1 0 0 HMP19 51617 broad.mit.edu 37 5 173491271 173491271 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:173491271C>T ENST00000303177.3 + 3 428 c.166C>T c.(166-168)Cag>Tag p.Q56* NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Nonsense_Mutation_p.Q56* NM_015980.4 NP_057064.1 TCAGCCGGAACAGAAGAACAA 0.433000 15 23 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56407332 56407332 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:56407332G>A ENST00000342929.3 - 11 3110 c.3111C>T c.(3109-3111)tgC>tgT p.C1037C NLRP13_ENST00000588751.1_Intron NM_176810.2 NP_789780.2 Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 1037 KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241). ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCTGCAGCCTGCATGTCGACT 0.463000 133 43 0 0 1 0 0 RIMKLB 57494 broad.mit.edu 37 12 8926243 8926243 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:8926243G>C ENST00000357529.3 + 7 2286 c.1024G>C c.(1024-1026)Gac>Cac p.D342H RIMKLB_ENST00000535829.1_Missense_Mutation_p.D342H|RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000538135.1_Missense_Mutation_p.D342H NM_020734.2 NP_065785.2 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family member B 342 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CACTGCTGTTGACAACATGAG 0.612000 28 87 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578380 58578380 + Silent SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:58578380A>G ENST00000506786.1 + 5 956 c.402A>G c.(400-402)ccA>ccG p.P134P ZNF135_ENST00000313434.5_Silent_p.P176P|ZNF135_ENST00000401053.4_Silent_p.P200P|ZNF135_ENST00000359978.6_Silent_p.P188P|ZNF135_ENST00000511556.1_Silent_p.P188P|ZNF135_ENST00000439855.2_Silent_p.P176P B4DHH9 B4DHH9_HUMAN zinc finger protein 135 188 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CTGATCTCCCACATCAACCAA 0.507000 6 38 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6311598 6311598 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:6311598C>T ENST00000400104.3 - 3 227 c.27G>A c.(25-27)aaG>aaA p.K9K L3MBTL4_ENST00000400105.2_Silent_p.K9K|L3MBTL4_ENST00000284898.6_Silent_p.K9K|L3MBTL4_ENST00000317931.7_Silent_p.K9K Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 9 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CCATATTAAGCTTCCTTTTCC 0.498000 49 88 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49053596 49053596 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:49053596C>T ENST00000440857.1 - 10 1525 c.823G>A c.(823-825)Gat>Aat p.D275N DALRD3_ENST00000341949.4_Missense_Mutation_p.D442N|DALRD3_ENST00000441576.2_Missense_Mutation_p.D442N|DALRD3_ENST00000395462.4_Missense_Mutation_p.D275N|DALRD3_ENST00000313778.5_Missense_Mutation_p.D275N Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 442 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTCACCTCATCATGTAGCAGT 0.532000 19 26 0 0 1 0 0 WBSCR16 81554 broad.mit.edu 37 7 74486509 74486509 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:74486509C>T ENST00000503250.2 - 2 468 c.399G>A c.(397-399)ggG>ggA p.G133G WBSCR16_ENST00000543840.1_Silent_p.G133G|WBSCR16_ENST00000329959.4_Silent_p.G133G NM_148842.2 NP_683682.1 Q96I51 WBS16_HUMAN Williams-Beuren syndrome chromosome region 16 133 kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 TGAGTCCCATCCCCCAGACTT 0.488000 11 59 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197421357 197421357 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:197421357C>T ENST00000273582.5 - 11 1983 c.1438G>A c.(1438-1440)Gag>Aag p.E480K KIAA0226_ENST00000389665.5_Missense_Mutation_p.E525K|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E525K NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 525 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CTGTCTTCCTCTTCCACTTCC 0.537000 43 29 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15928335 15928335 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:15928335G>C ENST00000504595.1 + 3 945 c.464G>C c.(463-465)aGg>aCg p.R155T FBXL7_ENST00000329673.7_Missense_Mutation_p.R143T|FBXL7_ENST00000510662.1_Missense_Mutation_p.R108T NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 155 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CGGCTCTGGAGGACTATCCGC 0.657000 12 9 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39070663 39070663 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:39070663G>T ENST00000355481.4 + 99 14522 c.14391G>T c.(14389-14391)ttG>ttT p.L4797F RYR1_ENST00000359596.3_Missense_Mutation_p.L4802F|RYR1_ENST00000360985.3_Missense_Mutation_p.L4797F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4802 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 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) TGTCCCTCTTGGGACACTACA 0.587000 79 31 7.427e-35 8.78385e-35 1 1 0 SH3RF2 153769 broad.mit.edu 37 5 145439428 145439428 + Splice_Site SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:145439428G>C ENST00000511217.1 + 8 1607 c.e8-1 SH3RF2_ENST00000511705.1_Splice_Site|SH3RF2_ENST00000359120.4_Splice_Site Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAATTCCCCAGATGGATCCCT 0.597000 17 15 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71757279 71757279 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:71757279G>T ENST00000318442.5 - 2 535 c.45C>A c.(43-45)ttC>ttA p.F15L NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CAGCCAAGTCGAAATGCACAT 0.493000 8 18 0.000274275 0.000289578 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25458692 25458692 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:25458692G>A ENST00000264709.3 - 22 2818 c.2481C>T c.(2479-2481)ttC>ttT p.F827F DNMT3A_ENST00000380746.4_Silent_p.F638F|DNMT3A_ENST00000402667.1_Silent_p.F604F|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.F827F NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 827 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.F827fs*4(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCACTTTGCTGAACTAGATGA 0.448000 """Mis, F, N, S""" AML 17 26 0 0 1 0 0 PURA 5813 broad.mit.edu 37 5 139494117 139494117 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:139494117C>T ENST00000331327.3 + 1 410 c.351C>T c.(349-351)ttC>ttT p.F117F NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 117 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGACTTCATCGAGCACT 0.692000 8 3 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82578956 82578956 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:82578956C>T ENST00000333891.9 - 6 11285 c.10948G>A c.(10948-10950)Gat>Aat p.D3650N PCLO_ENST00000423517.2_Missense_Mutation_p.D3650N|PCLO_ENST00000437081.1_Missense_Mutation_p.D370N NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGACTTATATCATCAGGGAGG 0.468000 28 110 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43384956 43384956 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:43384956C>T ENST00000296088.7 + 6 1369 c.1065C>T c.(1063-1065)atC>atT p.I355I SNRK_ENST00000437827.1_Silent_p.I149I|SNRK_ENST00000454177.1_Silent_p.I355I|SNRK_ENST00000429705.2_Silent_p.I355I NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 355 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CGAGCAATATCAAGGCCCAGT 0.368000 14 34 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91514296 91514296 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:91514296G>T ENST00000416354.1 + 26 4531 c.4459G>T c.(4459-4461)Gct>Tct p.A1487S KIF20B_ENST00000260753.4_Missense_Mutation_p.A1417S|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Missense_Mutation_p.A1457S|KIF20B_ENST00000394289.2_Missense_Mutation_p.A1457S Q96Q89 KI20B_HUMAN kinesin family member 20B 1457 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GAAATATAATGCTGATAGAAA 0.299000 8 10 4.68919e-08 5.16126e-08 1 1 0 EYA1 2138 broad.mit.edu 37 8 72246340 72246340 + Nonsense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:72246340G>C ENST00000340726.3 - 4 833 c.194C>G c.(193-195)tCa>tGa p.S65* EYA1_ENST00000388742.4_Nonsense_Mutation_p.S65*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.S65*|EYA1_ENST00000303824.7_Nonsense_Mutation_p.S65*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.S65*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.S32*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.S32* NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 65 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ACCTGAACCTGAGAAATTGTT 0.343000 19 7 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356167 52356167 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:52356167A>T ENST00000261845.5 + 6 1943 c.1136A>T c.(1135-1137)cAg>cTg p.Q379L CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 379 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) GATGAAGTTCAGCTTGATCCA 0.383000 5 31 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504646 70504646 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:70504646A>T ENST00000310961.5 + 22 3458 c.3040A>T c.(3040-3042)Acc>Tcc p.T1014S LRRC7_ENST00000035383.5_Missense_Mutation_p.T1009S|LRRC7_ENST00000415775.2_Missense_Mutation_p.T293S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1009 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGAGATGCTCACCTACGGAAG 0.468000 4 22 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22048151 22048151 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:22048151C>A ENST00000376980.3 - 11 1834 c.1544G>T c.(1543-1545)gGa>gTa p.G515V NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 515 SANT 2. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) GTCAGAGGATCCCCTTGGGTA 0.542000 20 93 6.33239e-15 7.36533e-15 1 1 0 DALRD3 55152 broad.mit.edu 37 3 49054938 49054938 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:49054938C>T ENST00000440857.1 - 5 928 c.226G>A c.(226-228)Gat>Aat p.D76N DALRD3_ENST00000341949.4_Missense_Mutation_p.D243N|DALRD3_ENST00000441576.2_Missense_Mutation_p.D243N|DALRD3_ENST00000395462.4_Missense_Mutation_p.D76N|DALRD3_ENST00000313778.5_Missense_Mutation_p.D76N Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 243 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GAGAGGAGATCCTCAGTCACT 0.572000 14 21 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21479006 21479006 + Missense_Mutation SNP A A G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:21479006A>G ENST00000313654.9 + 46 6054 c.5813A>G c.(5812-5814)aAa>aGa p.K1938R LAMA3_ENST00000269217.6_Missense_Mutation_p.K329R|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.K1938R|LAMA3_ENST00000587184.1_Missense_Mutation_p.K329R NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1938 Domain II and I. 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 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) GTGAAGATTAAAAATGTCATC 0.328000 4 11 0 0 1 0 0 HYLS1 219844 broad.mit.edu 37 11 125769995 125769995 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:125769995G>C ENST00000425380.2 + 3 1513 c.732G>C c.(730-732)caG>caC p.Q244H PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.Q244H|HYLS1_ENST00000356438.3_Missense_Mutation_p.Q244H NM_001134793.1 NP_001128265.1 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 244 centrosome|nucleus breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) TCCGAGAGCAGATGCTTTGTC 0.473000 10 23 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114655788 114655788 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:114655788G>A ENST00000393486.1 + 5 1130 c.540G>A c.(538-540)ctG>ctA p.L180L MDFIC_ENST00000257724.3_Silent_p.L289L NM_001166345.1|NM_199072.4 NP_001159817.1|NP_951038.1 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 180 Cys-rich. activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 GCGAATTCCTGACCCTTTGCA 0.473000 118 112 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37121857 37121857 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:37121857C>T ENST00000274258.7 - 48 9166 c.5579G>A c.(5578-5580)cGa>cAa p.R1860Q C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Missense_Mutation_p.R2962Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R2962Q E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2962 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTGTGAGATTCGACGACTATA 0.413000 11 43 0 0 1 0 0 IPCEF1 26034 broad.mit.edu 37 6 154520812 154520812 + Silent SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:154520812G>T ENST00000265198.4 - 10 1052 c.897C>A c.(895-897)atC>atA p.I299I IPCEF1_ENST00000422970.2_Silent_p.I300I|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Silent_p.I300I|IPCEF1_ENST00000519344.1_Silent_p.I271I NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 CTTTGTCCATGATCTTTGATC 0.313000 3 30 1 1 1 1 0 RNF114 55905 broad.mit.edu 37 20 48558189 48558189 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:48558189G>T ENST00000244061.2 + 2 234 c.232G>T c.(232-234)Gtg>Ttg p.V78L NM_018683.3 NP_061153.1 Q9Y508 RN114_HUMAN ring finger protein 114 78 cell differentiation|multicellular organismal development|spermatogenesis intracellular zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 CGTCCGAGCCGTGGAGCTCGA 0.552000 34 128 2.42023e-17 2.82839e-17 1 1 0 CTNNA3 29119 broad.mit.edu 37 10 67829157 67829157 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:67829157C>G ENST00000433211.2 - 15 2242 c.2068G>C c.(2068-2070)Gag>Cag p.E690Q CTNNA3_ENST00000373744.4_Missense_Mutation_p.E690Q|CTNNA3_ENST00000373735.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ATCTCAATCTCAGCATCCAGC 0.398000 9 43 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633598 116633598 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:116633598G>A ENST00000260210.4 - 4 730 c.707C>T c.(706-708)tCa>tTa p.S236L BUD13_ENST00000375445.3_Intron NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 236 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) AGAGATATCTGAGGAACCATG 0.537000 76 36 0 0 1 0 0 HSPB9 94086 broad.mit.edu 37 17 40275183 40275183 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:40275183G>A ENST00000355067.3 + 1 428 c.315G>A c.(313-315)atG>atA p.M105I CTD-2132N18.3_ENST00000592574.1_Intron NM_033194.2 NP_149971.1 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, B9 105 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) ACCGGAAAATGCTCCCGTCCA 0.627000 8 85 0 0 1 0 0 MRE11A 4361 broad.mit.edu 37 11 94189501 94189501 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:94189501G>C ENST00000323929.3 - 14 1726 c.1504C>G c.(1504-1506)Cgt>Ggt p.R502G MRE11A_ENST00000323977.3_Missense_Mutation_p.R502G|MRE11A_ENST00000393241.4_Missense_Mutation_p.R502G|MRE11A_ENST00000407439.3_Missense_Mutation_p.R505G NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 502 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CTGAAACGACGTACCTAGATC 0.313000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 5 1 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214208 140214208 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:140214208G>T ENST00000525929.1 + 1 240 c.240G>T c.(238-240)caG>caT p.Q80H PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.Q80H|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAATCTGCAGAATGGCATTT 0.627000 29 161 1.13719e-10 1.29513e-10 1 1 0 DLC1 10395 broad.mit.edu 37 8 12948899 12948899 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:12948899T>A ENST00000276297.4 - 14 4192 c.3783A>T c.(3781-3783)aaA>aaT p.K1261N DLC1_ENST00000512044.2_Missense_Mutation_p.K858N|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.K824N|DLC1_ENST00000520226.1_Missense_Mutation_p.K750N NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1261 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CATTCAAATCTTTCTGATCTG 0.403000 4 30 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61036431 61036431 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:61036431G>C ENST00000335613.5 - 15 2231 c.1845C>G c.(1843-1845)atC>atG p.I615M VWCE_ENST00000535710.1_Missense_Mutation_p.I80M NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 615 VWFC 4. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CAGGGATCCGGATCGGGTGAG 0.622000 4 21 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517779 158517779 + Silent SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:158517779G>T ENST00000302617.3 - 1 116 c.117C>A c.(115-117)acC>acA p.T39T NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCAGCAGATAGGTTGCCAGGA 0.458000 29 26 9.39395e-14 1.09005e-13 1 1 0 BAIAP3 8938 broad.mit.edu 37 16 1394662 1394662 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:1394662C>A ENST00000324385.5 + 19 1983 c.1825C>A c.(1825-1827)Cag>Aag p.Q609K BAIAP3_ENST00000568887.1_Missense_Mutation_p.Q546K|BAIAP3_ENST00000426824.3_Missense_Mutation_p.Q574K|BAIAP3_ENST00000421665.2_Missense_Mutation_p.Q538K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.Q591K|BAIAP3_ENST00000397489.1_Missense_Mutation_p.Q591K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.Q551K NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 609 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) TGATGACCTTCAGTTCTGCTA 0.652000 19 179 1.10513e-12 1.27635e-12 1 1 0 DST 667 broad.mit.edu 37 6 56469567 56469567 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:56469567C>T ENST00000370754.5 - 39 9759 c.9760G>A c.(9760-9762)Gat>Aat p.D3254N DST_ENST00000361203.3_Missense_Mutation_p.D3076N|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D3076N|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D3076N|DST_ENST00000446842.2_Missense_Mutation_p.D2750N Q03001 DYST_HUMAN dystonin 3076 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGCAGAAAATCATTTTTCCCA 0.348000 10 31 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47160509 47160509 + Missense_Mutation SNP T T A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:47160509T>A ENST00000447411.1 - 16 1825 c.1619A>T c.(1618-1620)gAt>gTt p.D540V SLC38A4_ENST00000266579.4_Missense_Mutation_p.D540V NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 540 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ATTTGGAGGATCATAAATCCA 0.323000 3 13 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17602401 17602401 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:17602401C>A ENST00000377813.1 - 15 3561 c.3258G>T c.(3256-3258)ctG>ctT p.L1086L RRBP1_ENST00000246043.4_Silent_p.L1086L|RRBP1_ENST00000360807.4_Silent_p.L653L|RRBP1_ENST00000455029.2_Silent_p.L427L|RRBP1_ENST00000377807.2_Silent_p.L653L|RRBP1_ENST00000470422.1_5'UTR Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1086 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TGAGATCCTGCAGCCACTCGG 0.607000 12 19 0.0809354 0.0817663 1 1 0 TTI1 9675 broad.mit.edu 37 20 36634683 36634683 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:36634683C>T ENST00000373448.2 - 4 2657 c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K TTI1_ENST00000373447.3_Missense_Mutation_p.E807K|TTI1_ENST00000449821.1_Missense_Mutation_p.E807K NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 807 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TCGATGTCTTCAGCTGTGGTG 0.428000 59 71 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129845659 129845659 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:129845659C>G ENST00000254667.3 + 4 394 c.115C>G c.(115-117)Ccg>Gcg p.P39A PTPRE_ENST00000430713.2_Missense_Mutation_p.P39A|PTPRE_ENST00000471218.1_Missense_Mutation_p.P39A|PTPRE_ENST00000419012.2_Missense_Mutation_p.P39A NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 39 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TGCAGGCCCTCCGGACCCGGG 0.612000 10 10 0 0 1 0 0 C1orf64 149563 broad.mit.edu 37 1 16330856 16330856 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:16330856G>C ENST00000329454.2 + 1 126 c.58G>C c.(58-60)Gag>Cag p.E20Q NM_178840.2 NP_849162.1 Q8NEQ6 CA064_HUMAN chromosome 1 open reading frame 64 20 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CACCATCCGTGAGACAGGCCT 0.642000 9 5 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72549769 72549769 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:72549769T>C ENST00000569795.1 - 13 1606 c.919A>G c.(919-921)Act>Gct p.T307A PARP6_ENST00000287196.9_Missense_Mutation_p.T307A|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.T307A Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 307 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 AGTTCACGAGTACAGACAGCT 0.527000 4 43 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37975002 37975002 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:37975002G>C ENST00000330173.1 + 5 1007 c.478G>C c.(478-480)Gag>Cag p.E160Q ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.E216Q NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTTTTTGATGAGAGAGAACA 0.388000 14 120 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016207 38016207 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:38016207C>T ENST00000261439.4 + 3 850 c.495C>T c.(493-495)ttC>ttT p.F165F TBC1D1_ENST00000508802.1_Silent_p.F165F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 165 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CGTCCGAGTTCGACGACACGT 0.627000 50 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179631277 179631277 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:179631277G>A ENST00000589042.1 - 41 9758 c.9534C>T c.(9532-9534)caC>caT p.H3178H TTN_ENST00000591111.1_Silent_p.H3178H|TTN_ENST00000342175.6_Silent_p.H3132H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.H3132H|TTN_ENST00000359218.5_Silent_p.H3132H|TTN_ENST00000342992.6_Silent_p.H3178H|TTN_ENST00000360870.5_Silent_p.H3178H|TTN-AS1_ENST00000610005.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2913 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) CTTTATACCAGTGGGCATCAA 0.383000 20 28 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476224 17476224 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:17476224C>A ENST00000252590.4 - 3 1111 c.1050G>T c.(1048-1050)gaG>gaT p.E350D NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 350 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCACCGCCTTCTCCTCCAGCG 0.617000 11 31 2.27111e-07 2.47209e-07 1 1 0 ARID1B 57492 broad.mit.edu 37 6 157502169 157502169 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:157502169G>A ENST00000346085.5 + 12 3203 c.3202G>A c.(3202-3204)Gag>Aag p.E1068K ARID1B_ENST00000275248.4_Missense_Mutation_p.E1050K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1108K|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1055K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1055 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GAATGAGCCAGAGAGAAAGCT 0.572000 5 21 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45727766 45727766 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:45727766G>C ENST00000290158.4 + 2 462 c.55G>C c.(55-57)Gaa>Caa p.E19Q KPNB1_ENST00000535458.2_Intron|KPNB1_ENST00000577918.1_3'UTR NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 19 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GCTGGAGCTGGAAGCGGCGCA 0.726000 3 10 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56868392 56868392 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:56868392C>T ENST00000311966.4 - 12 1438 c.1160G>A c.(1159-1161)cGc>cAc p.R387H GLS2_ENST00000476991.1_5'UTR NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 387 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAGGGTGTTGCGCACTGCTTC 0.567000 7 80 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140285025 140285025 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:140285025G>A ENST00000458420.3 + 17 2988 c.2798G>A c.(2797-2799)aGa>aAa p.R933K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 933 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGGATGGGCAGAGGCAGACAT 0.612000 HNSCC(16;0.037) 5 17 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43162085 43162085 + Missense_Mutation SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr21:43162085A>T ENST00000352483.2 - 9 1476 c.1412T>A c.(1411-1413)aTg>aAg p.M471K RIPK4_ENST00000332512.3_Missense_Mutation_p.M423K|RIPK4_ENST00000544709.1_Missense_Mutation_p.M360K|RIPK4_ENST00000542057.1_Missense_Mutation_p.M360K Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 423 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CAGGATCTTCATCAGTTTGCT 0.627000 179 170 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242169582 242169582 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:242169582G>A ENST00000391975.1 - 26 3804 c.3577C>T c.(3577-3579)Ctg>Ttg p.L1193L HDLBP_ENST00000310931.4_Silent_p.L1193L|HDLBP_ENST00000427183.2_Silent_p.L1160L|HDLBP_ENST00000391976.2_Silent_p.L1193L NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1193 KH 14. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCCTCCTCCAGATTGAGGATG 0.632000 10 31 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761480 27761480 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:27761480C>A ENST00000261588.4 + 16 3218 c.3199C>A c.(3199-3201)Cct>Act p.P1067T NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1067 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CTTCACGCACCCTTGCCACGT 0.542000 13 22 1.5842e-08 1.76741e-08 1 1 0 TPX2 22974 broad.mit.edu 37 20 30365345 30365345 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr20:30365345C>T ENST00000340513.4 + 9 1314 c.786C>T c.(784-786)ttC>ttT p.F262F TPX2_ENST00000300403.6_Silent_p.F262F Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 262 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ACTTCCACTTCCGCACAGATG 0.418000 5 61 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66261098 66261098 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:66261098C>A ENST00000532677.1 + 12 1841 c.1440C>A c.(1438-1440)ttC>ttA p.F480L DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.F461L|DPP3_ENST00000453114.1_Missense_Mutation_p.F461L|DPP3_ENST00000360510.2_Missense_Mutation_p.F461L|DPP3_ENST00000530165.1_Missense_Mutation_p.F431L|DPP3_ENST00000531863.1_Missense_Mutation_p.F481L NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 461 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GCAAGCTCTTCGTACAGGTGA 0.642000 11 3 3.86212e-05 4.11291e-05 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38893923 38893923 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:38893923C>G ENST00000359357.3 + 72 10658 c.10404C>G c.(10402-10404)ctC>ctG p.L3468L DNAH8_ENST00000441566.1_Silent_p.L3432L|DNAH8_ENST00000449981.2_Silent_p.L3685L|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACCCACTCCTCATAGACCCAC 0.413000 45 18 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388619 4388619 + Nonsense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:4388619C>A ENST00000408920.2 - 1 997 c.907G>T c.(907-909)Gaa>Taa p.E303* NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCACCTGTTCCTGGATTTGC 0.398000 3 22 0.004672 0.00481892 1 1 0 ZNF366 167465 broad.mit.edu 37 5 71757131 71757131 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:71757131C>A ENST00000318442.5 - 2 683 c.193G>T c.(193-195)Gat>Tat p.D65Y NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGGAACCCATCTAGGTCTCCT 0.582000 19 44 1.96292e-10 2.23039e-10 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72831018 72831018 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr16:72831018G>C ENST00000268489.5 - 9 6235 c.5563C>G c.(5563-5565)Cag>Gag p.Q1855E ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q941E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1855 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTTGGTTCTGCTGCTGCTGC 0.532000 10 57 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84369778 84369778 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:84369778G>A ENST00000260505.8 - 18 2569 c.2192C>T c.(2191-2193)tCt>tTt p.S731F TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 731 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TTGTTTTACAGAGTCCAATTT 0.338000 15 16 0 0 1 0 0 WBSCR22 114049 broad.mit.edu 37 7 73111993 73111993 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:73111993G>C ENST00000265758.2 + 11 818 c.760G>C c.(760-762)Gag>Cag p.E254Q WBSCR22_ENST00000423497.1_Missense_Mutation_p.E271Q|WBSCR22_ENST00000423166.2_3'UTR NM_017528.4 NP_059998.2 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 254 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) ATGGGTGCTGGAGAAGAAGGA 0.612000 11 25 0 0 1 0 0 VDR 7421 broad.mit.edu 37 12 48250914 48250914 + Nonsense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:48250914G>C ENST00000229022.3 - 7 862 c.581C>G c.(580-582)tCa>tGa p.S194* VDR_ENST00000549336.1_Nonsense_Mutation_p.S194*|VDR_ENST00000550325.1_Nonsense_Mutation_p.S244*|VDR_ENST00000535672.1_Nonsense_Mutation_p.S162*|VDR_ENST00000395324.2_Nonsense_Mutation_p.S194* NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 194 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CTGCTTACCTGAAGAGGTGAT 0.607000 7 22 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016321 38016321 + Silent SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:38016321C>G ENST00000261439.4 + 3 964 c.609C>G c.(607-609)gtC>gtG p.V203V TBC1D1_ENST00000508802.1_Silent_p.V203V NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 203 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCAATCACGTCAGCGGCAGCC 0.682000 32 36 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130777856 130777856 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:130777856C>A ENST00000265909.4 - 5 2726 c.2157G>T c.(2155-2157)aaG>aaT p.K719N SNX19_ENST00000530356.1_Missense_Mutation_p.K99N|SNX19_ENST00000533214.1_Missense_Mutation_p.K719N|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Missense_Mutation_p.K99N|SNX19_ENST00000539184.1_Missense_Mutation_p.K162N|SNX19_ENST00000545537.1_Intron|SNX19_ENST00000534726.1_Intron NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 719 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACTTGCTAGCCTTCTTGCCTT 0.552000 11 74 0.0809354 0.0817663 1 1 0 TSPYL5 85453 broad.mit.edu 37 8 98289735 98289735 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:98289735G>A ENST00000322128.3 - 1 441 c.338C>T c.(337-339)tCg>tTg p.S113L NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 113 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) CAGGCGCTCCGAGAGAGATGC 0.746000 9 11 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42880206 42880206 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:42880206C>T ENST00000334370.4 + 41 8251 c.7616C>T c.(7615-7617)gCc>gTc p.A2539V MEGF8_ENST00000378073.4_Missense_Mutation_p.A200V|MEGF8_ENST00000251268.6_Missense_Mutation_p.A2606V NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2606 Pro-rich. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GAGCACCATGCCCTCAAGTCG 0.677000 12 122 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307456 54307456 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:54307456G>C ENST00000545554.1 + 1 2356 c.2356G>C c.(2356-2358)Gac>Cac p.D786H UNC13C_ENST00000260323.11_Missense_Mutation_p.D786H|UNC13C_ENST00000537900.1_Missense_Mutation_p.D786H Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 786 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATTAAGCATTGACCTTTCTGA 0.418000 3 18 0 0 1 0 0 HEY1 23462 broad.mit.edu 37 8 80677792 80677792 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:80677792G>C ENST00000337919.5 - 5 751 c.558C>G c.(556-558)acC>acG p.T186T HEY1_ENST00000354724.3_Silent_p.T182T|HEY1_ENST00000523976.1_Silent_p.T92T|HEY1_ENST00000435063.2_5'UTR NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 182 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) GTCCGAAGACGGTCCCCCAGG 0.682000 T NCOA2 mesenchymal chondrosarcoma OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 61 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917308 65917308 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr15:65917308G>T ENST00000261892.6 + 2 1177 c.890G>T c.(889-891)gGg>gTg p.G297V SLC24A1_ENST00000544319.2_Missense_Mutation_p.G297V|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G297V|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G297V|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G297V|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G297V NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 297 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CATCCCTGGGGGTTAGTGGGA 0.537000 11 76 2.10051e-16 2.44893e-16 1 1 0 OBSL1 23363 broad.mit.edu 37 2 220428173 220428173 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:220428173G>A ENST00000404537.1 - 7 2640 c.2584C>T c.(2584-2586)Cgc>Tgc p.R862C OBSL1_ENST00000289656.3_Missense_Mutation_p.R449C|OBSL1_ENST00000265318.4_Missense_Mutation_p.R862C|OBSL1_ENST00000603926.1_Missense_Mutation_p.R862C|OBSL1_ENST00000373873.4_Missense_Mutation_p.R862C|OBSL1_ENST00000373876.1_Missense_Mutation_p.R862C NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 862 Ig-like 6. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) ACCAGGCGGCGATGGGGCCCC 0.642000 4 21 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43494697 43494697 + Missense_Mutation SNP C C G TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr5:43494697C>G ENST00000306862.2 - 7 1534 c.1159G>C c.(1159-1161)Gag>Cag p.E387Q RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 387 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TAAGTTTTCTCTTCTCTCTGA 0.323000 5 24 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79116310 79116310 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:79116310C>A ENST00000370747.4 + 2 515 c.430C>A c.(430-432)Cag>Aag p.Q144K IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 144 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 TATCTCTATTCAGGATTATGA 0.348000 26 9 0.000720815 0.000751358 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47835685 47835685 + Missense_Mutation SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:47835685T>C ENST00000289672.2 - 55 8307 c.8257A>G c.(8257-8259)Aga>Gga p.R2753G C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2753 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCTTTAAGTCTCACAAAAGAT 0.358000 8 49 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064875 7064875 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:7064875C>T ENST00000299481.4 + 4 1964 c.1618C>T c.(1618-1620)Cga>Tga p.R540* NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 540 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GAATGAAGATCGAGTAAAACA 0.348000 26 5 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57849552 57849552 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:57849552G>A ENST00000266646.2 + 1 449 c.233G>A c.(232-234)aGa>aAa p.R78K INHBE_ENST00000551553.1_Intron NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 78 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 GCCCTCCGGAGACTACAGCCA 0.587000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 16 0 0 1 0 0 HIST1H1A 3024 broad.mit.edu 37 6 26017778 26017778 + Silent SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:26017778C>A ENST00000244573.3 - 1 262 c.183G>T c.(181-183)tcG>tcT p.S61S NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 61 H15. nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 GAGCTGCCAACGACACACCAC 0.572000 7 67 8.12818e-05 8.61868e-05 1 1 0 ABCA8 10351 broad.mit.edu 37 17 66864298 66864298 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:66864298C>T ENST00000269080.2 - 38 4811 c.4674G>A c.(4672-4674)caG>caA p.Q1558Q ABCA8_ENST00000586539.1_Silent_p.Q1598Q|ABCA8_ENST00000430352.2_Silent_p.Q1598Q NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1558 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CACCCAGCTCCTGCTCCTTGG 0.488000 6 13 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43976449 43976449 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:43976449C>T ENST00000262726.7 - 25 3376 c.3123G>A c.(3121-3123)aaG>aaA p.K1041K EFCAB6_ENST00000396231.2_Silent_p.K889K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1041 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CTTCTTTTTCCTTGGGCTGAG 0.498000 13 130 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89655859 89655859 + Missense_Mutation SNP C C A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr1:89655859C>A ENST00000355754.6 - 7 1156 c.1059G>T c.(1057-1059)atG>atT p.M353I NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 353 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GTTGCTGGGCCATCTGCTGGC 0.602000 5 36 0.000602214 0.000629065 1 1 0 PLIN4 729359 broad.mit.edu 37 19 4510722 4510722 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:4510722G>A ENST00000301286.3 - 3 3207 c.3208C>T c.(3208-3210)Ccc>Tcc p.P1070S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1070 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GCCTCTTGGGGGCTCAGGGCA 0.647000 7 14 0 0 1 0 0 ZDHHC8P1 150244 broad.mit.edu 37 22 23742462 23742462 + RNA SNP A A T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:23742462A>T ENST00000255890.4 - 0 747 ACATTATTGTAGGACAGGCTG 0.657000 21 12 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073854 134073854 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr4:134073854C>T ENST00000264360.5 + 1 3385 c.2559C>T c.(2557-2559)tgC>tgT p.C853C NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ACAACCCCTGCGGGGCCATCG 0.572000 5 33 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056192 26056192 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:26056192C>T ENST00000343677.2 - 1 507 c.465G>A c.(463-465)ccG>ccA p.P155P NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 155 nucleosome assembly nucleosome|nucleus DNA binding p.P155P(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TCGCTTTCTTCGGTGTTTTCT 0.572000 60 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595381 179595381 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:179595381G>A ENST00000589042.1 - 61 18103 c.17879C>T c.(17878-17880)tCa>tTa p.S5960L TTN_ENST00000591111.1_Missense_Mutation_p.S5643L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4716L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5643 Ig-like 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) TTCACTAGCTGATATTTCTTG 0.403000 24 35 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123197011 123197011 + Nonsense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:123197011C>T ENST00000371160.1 + 19 2067 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 593 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCAGTTGCCTCAGTACTTTGA 0.279000 9 4 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88380096 88380096 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr12:88380096C>T ENST00000298699.2 - 10 1095 c.915G>A c.(913-915)atG>atA p.M305I C12orf50_ENST00000550553.1_Missense_Mutation_p.M266I NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 305 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TACCTCTCTGCATTCCAGAGT 0.308000 4 20 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99709785 99709785 + Silent SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr7:99709785G>C ENST00000344095.4 - 7 1191 c.666C>G c.(664-666)ctC>ctG p.L222L TAF6_ENST00000453269.2_Silent_p.L222L|TAF6_ENST00000418432.2_Silent_p.L146L|TAF6_ENST00000472509.1_Silent_p.L279L|TAF6_ENST00000437822.2_Silent_p.L259L|TAF6_ENST00000452041.1_Silent_p.L222L NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 222 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTTGTAGTAGAGCTGCTGCT 0.657000 17 9 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111156572 111156572 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr13:111156572G>A ENST00000360467.5 + 45 4669 c.4363G>A c.(4363-4365)Gaa>Aaa p.E1455K COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1455 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCGGGGAGATGAAGGACCCAT 0.597000 17 58 0 0 1 0 0 GTPBP3 84705 broad.mit.edu 37 19 17449795 17449795 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:17449795C>T ENST00000324894.8 + 5 692 c.624C>T c.(622-624)ttC>ttT p.F208F GTPBP3_ENST00000361619.5_Silent_p.F230F|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.F208F|GTPBP3_ENST00000358792.7_Silent_p.F208F NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 208 tRNA modification mitochondrion GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 ATATCGATTTCGGCGAGGATG 0.612000 8 37 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43329783 43329783 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr18:43329783C>T ENST00000321925.4 + 10 1269 c.1037C>T c.(1036-1038)aCg>aTg p.T346M SLC14A1_ENST00000415427.3_Missense_Mutation_p.T402M|SLC14A1_ENST00000402943.2_Missense_Mutation_p.T241M|SLC14A1_ENST00000591541.1_Missense_Mutation_p.T50M|SLC14A1_ENST00000589700.1_Missense_Mutation_p.R297C|SLC14A1_ENST00000586142.1_Missense_Mutation_p.T346M|SLC14A1_ENST00000535474.1_Missense_Mutation_p.T214M|SLC14A1_ENST00000436407.3_Missense_Mutation_p.T402M|SLC14A1_ENST00000502059.2_Missense_Mutation_p.T238M NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 346 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 TGTTTGGCCACGCTATTGTTC 0.478000 5 32 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193151664 193151664 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr3:193151664G>A ENST00000342695.4 - 25 3134 c.2812C>T c.(2812-2814)Ctg>Ttg p.L938L ATP13A4_ENST00000392443.3_Silent_p.L919L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 938 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GTAATGGCCAGATCCTGGAAC 0.388000 33 27 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79781643 79781643 + Silent SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr10:79781643G>A ENST00000372371.3 - 7 1160 c.1023C>T c.(1021-1023)ttC>ttT p.F341F NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 341 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GGCGTTGGACGAAGCCTCTGG 0.537000 3 19 0 0 1 0 0 SMIM7 79086 broad.mit.edu 37 19 16770914 16770914 + Missense_Mutation SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr19:16770914C>T ENST00000487416.2 - 1 54 c.8G>A c.(7-9)gGa>gAa p.G3E CTC-429P9.4_ENST00000593962.1_5'UTR|SMIM7_ENST00000597711.1_Missense_Mutation_p.G3E|CTC-429P9.4_ENST00000600705.1_Missense_Mutation_p.G3E|SMIM7_ENST00000358726.6_Missense_Mutation_p.G3E NM_024104.3 NP_077009.2 small integral membrane protein 7 p.G3E(1) CAGGATGTCTCCGATCATCGT 0.607000 5 21 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170465233 170465234 + Frame_Shift_Ins INS - - AG TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr2:170465233_170465234insAG ENST00000260970.3 + 7 562_563 c.342_343insAG c.(343-345)agafs p.R115fs PPIG_ENST00000462903.1_Frame_Shift_Ins_p.R115fs|PPIG_ENST00000448752.2_Frame_Shift_Ins_p.R115fs|PPIG_ENST00000409714.3_Frame_Shift_Ins_p.R100fs NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 115 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CAATGGCCAACAGAGGGAAGGA 0.376 14 29 --- --- --- --- ZSCAN31 64288 broad.mit.edu 37 6 28293956 28293956 + Frame_Shift_Del DEL C C - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr6:28293956delC ENST00000414429.1 - 8 2111 c.1208delG c.(1207-1209)ggafs p.G403fs ZSCAN31_ENST00000396838.2_Frame_Shift_Del_p.G403fs|ZSCAN31_ENST00000439158.1_Frame_Shift_Del_p.G403fs|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Frame_Shift_Del_p.G403fs|ZSCAN31_ENST00000446474.1_Frame_Shift_Del_p.G244fs zinc finger and SCAN domain containing 31 TGGTCTCTCTCCAGTGTGGAT 0.438 37 318 --- --- --- --- ASAP1 50807 broad.mit.edu 37 8 131193031 131193031 + Frame_Shift_Del DEL T T - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr8:131193031delT ENST00000357668.1 - 7 653 c.626delA c.(625-627)aagfs p.K209fs ASAP1_ENST00000518721.1_Frame_Shift_Del_p.K209fs Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 209 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GCGCCTTTCCTTCTCCATTTC 0.418 9 99 --- --- --- --- FAM181B 220382 broad.mit.edu 37 11 82444116 82444116 + Frame_Shift_Del DEL T T - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr11:82444116delT ENST00000329203.3 - 1 790 c.656delA c.(655-657)aagfs p.K219fs NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 219 Gly-rich. large_intestine(1)|lung(2)|prostate(1) 4 CAGCGGGACCTTCCTGGCCCC 0.781 2 4 --- --- --- --- RCOR1 23186 broad.mit.edu 37 14 103059442 103059444 + In_Frame_Del DEL GGC GGC - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr14:103059442_103059444delGGC ENST00000262241.6 + 1 445_447 c.219_221delGGC c.(217-222)ttggcg>ttg p.A77del RCOR1_ENST00000570597.1_In_Frame_Del_p.A74del NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 74 Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 ATAAAAGTTTGGCGGCGGCGGCG 0.729 2 4 --- --- --- --- SLC35G6 643664 broad.mit.edu 37 17 7385757 7385766 + Frame_Shift_Del DEL CAGGGTCTCA CAGGGTCTCA - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr17:7385757_7385766delCAGGGTCTCA ENST00000412468.2 + 2 569_578 c.454_463delCAGGGTCTCA c.(454-465)cagggtctcagtfs p.QGLS152fs ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 152 DUF6 1. integral to membrane CCTTGAGAGCCAGGGTCTCAGTGGCTACGA 0.590 75 66 --- --- --- --- SLC16A8 23539 broad.mit.edu 37 22 38477211 38477211 + Frame_Shift_Del DEL G G - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chr22:38477211delG ENST00000320521.5 - 4 942 c.834delC c.(832-834)gccfs p.A278fs SLC16A8_ENST00000469516.1_Intron NM_013356.2 NP_037488.2 O95907 MOT3_HUMAN solute carrier family 16 (monocarboxylate transporter), member 8 278 blood coagulation|leukocyte migration|pyruvate metabolic process integral to plasma membrane|membrane fraction lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity kidney(1)|large_intestine(1)|prostate(1) 3 Melanoma(58;0.045) Pyruvic acid(DB00119) CCGCGTCCTTGGCGTAGTTCA 0.711 2 4 --- --- --- --- REPS2 9185 broad.mit.edu 37 X 17043290 17043300 + Frame_Shift_Del DEL GCAGAACAGAT GCAGAACAGAT - TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50e46ae7-68b2-48b2-b3ae-0481677c53a6 673721c5-3509-488a-8f5d-c801bd1f1568 g.chrX:17043290_17043300delGCAGAACAGAT ENST00000357277.3 + 4 826_836 c.655_665delGCAGAACAGAT c.(655-666)gcagaacagatgfs p.AEQM219fs REPS2_ENST00000380064.4_Frame_Shift_Del_p.AEQM79fs|REPS2_ENST00000303843.7_Frame_Shift_Del_p.AEQM218fs NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 219 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) GCGGAGCAGCGCAGAACAGATGCATCCAGGT 0.573 15 39 --- --- --- ---