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 KIF1A 547 broad.mit.edu 37 2 241657548 241657548 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:241657548C>T ENST00000498729.2 - 48 5498 c.5252G>A c.(5251-5253)gGc>gAc p.G1751D KIF1A_ENST00000320389.7_Missense_Mutation_p.G1650D NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1650 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CAGCAGGATGCCGCGGTGTTC 0.667000 7 14 0 0 0.001984 0 0 TCTN3 26123 broad.mit.edu 37 10 97446807 97446807 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:97446807G>A ENST00000265993.8 - 6 1089 c.846C>T c.(844-846)gtC>gtT p.V282V TCTN3_ENST00000371209.5_Silent_p.V282V|TCTN3_ENST00000371217.4_Silent_p.V300V|TCTN3_ENST00000430368.1_Silent_p.V203V NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 282 apoptosis integral to membrane breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CTACCTTTAAGACTGTGAAGT 0.418000 26 33 0 0 0.001061 0 0 NFATC1 4772 broad.mit.edu 37 18 77170938 77170938 + Silent SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:77170938T>C ENST00000253506.5 + 2 1032 c.663T>C c.(661-663)ttT>ttC p.F221F NFATC1_ENST00000586434.1_Silent_p.F208F|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.F221F|NFATC1_ENST00000587635.1_Silent_p.F221F|NFATC1_ENST00000592223.1_Silent_p.F208F|NFATC1_ENST00000318065.5_Silent_p.F208F|NFATC1_ENST00000329101.4_Silent_p.F208F|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Silent_p.F221F|NFATC1_ENST00000427363.2_Silent_p.F221F NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 221 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGGAGGGCTTTCCCCGCGGGC 0.706000 56 48 0 0 0.003610 0 0 IRF6 3664 broad.mit.edu 37 1 209961987 209961987 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:209961987G>A ENST00000367021.3 - 9 1354 c.1182C>T c.(1180-1182)gtC>gtT p.V394V IRF6_ENST00000542854.1_Silent_p.V299V NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 394 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CTACTGGAATGACCTGTTCAG 0.473000 HNSCC(57;0.16) 30 26 0 0 0.001951 0 0 PRMT10 90826 broad.mit.edu 37 4 148601580 148601580 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:148601580C>T ENST00000322396.6 - 2 474 c.232G>A c.(232-234)Gat>Aat p.D78N PRMT10_ENST00000541232.1_Intron NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 78 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 CTGAGAGCATCAAGCTCTTCA 0.363000 15 33 0 0 0.004007 0 0 EPOR 2057 broad.mit.edu 37 19 11489124 11489124 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:11489124G>A ENST00000222139.6 - 8 1167 c.1063C>T c.(1063-1065)Ctg>Ttg p.L355L EPOR_ENST00000592375.2_3'UTR NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 355 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GGCTCCAGCAGGGGGCCCTCA 0.657000 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 48 0 0 0.001786 0 0 ZAN 7455 broad.mit.edu 37 7 100390093 100390093 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:100390093C>T ENST00000542585.1 + 0 7924 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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) GTTGCCAGGTCCTCAGTGGGT 0.672000 41 44 0 0 0.001706 0 0 CASS4 57091 broad.mit.edu 37 20 55028076 55028076 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:55028076C>T ENST00000371336.3 + 5 2045 c.1844C>T c.(1843-1845)cCc>cTc p.P615L CASS4_ENST00000360314.3_Missense_Mutation_p.P615L|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 615 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ATCCAGCCTCCCCAAAGAGAA 0.413000 17 33 0 0 0.004990 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114192019 114192019 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:114192019G>A ENST00000369405.3 - 10 1540 c.1117C>T c.(1117-1119)Ctt>Ttt p.L373F ZDHHC6_ENST00000369404.3_Missense_Mutation_p.L369F|ZDHHC6_ENST00000482410.1_5'UTR NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 373 integral to membrane acyltransferase activity|zinc ion binding p.L373I(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) GAATCATCAAGAATTTTGTCT 0.269000 13 28 0 0 0.003163 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485798 169485798 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:169485798C>T ENST00000330368.2 - 2 915 c.541G>A c.(541-543)Ggc>Agc p.G181S NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 181 cytoplasm|cytoskeleton AGGTCAAGGCCTGCCAGATCC 0.498000 30 47 0 0 0.001512 0 0 FAM169A 26049 broad.mit.edu 37 5 74078953 74078953 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:74078953C>T ENST00000389156.4 - 12 1357 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K FAM169A_ENST00000510496.1_Missense_Mutation_p.E363K|FAM169A_ENST00000380515.3_3'UTR NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 423 Asp/Glu-rich. breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GGCTCTAATTCAGATTCCTAC 0.398000 45 27 0 0 0.003610 0 0 VN1R4 317703 broad.mit.edu 37 19 53770596 53770596 + Missense_Mutation SNP G G A rs74977010 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:53770596G>A ENST00000311170.4 - 1 376 c.323C>T c.(322-324)aCg>aTg p.T108M NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 108 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GGAGCTGACCGTGATCACCTG 0.507000 HNSCC(26;0.072) 16 45 0 0 0.004007 0 0 CABYR 26256 broad.mit.edu 37 18 21735699 21735699 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:21735699G>A ENST00000399496.3 + 4 399 c.234G>A c.(232-234)aaG>aaA p.K78K CABYR_ENST00000399499.1_Silent_p.K78K|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000581397.1_Silent_p.K78K|CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000415309.2_Silent_p.K78K NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 78 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) CACCACAGAAGAAATTAGAAT 0.338000 36 57 0 0 0.001287 0 0 SLC41A3 54946 broad.mit.edu 37 3 125725967 125725967 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:125725967C>T ENST00000383598.2 - 10 1563 c.1278G>A c.(1276-1278)ggG>ggA p.G426G SLC41A3_ENST00000360370.4_Silent_p.G452G|SLC41A3_ENST00000315891.6_Silent_p.G452G|SLC41A3_ENST00000346785.5_Silent_p.G416G|SLC41A3_ENST00000508835.1_Silent_p.G335G NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 452 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) CGAGCAGGTCCCCCAGCCCTG 0.577000 23 54 0 0 0.002299 0 0 EEF1B2 1933 broad.mit.edu 37 2 207024727 207024727 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:207024727C>T ENST00000392222.2 + 1 399 c.24C>T c.(22-24)agC>agT p.S8S EEF1B2_ENST00000236957.5_Silent_p.S8S|EEF1B2_ENST00000392221.1_Silent_p.S8S NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 8 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 ACCTGAAAAGCCCTGCCGGCC 0.632000 18 92 0 0 0.001216 0 0 ZNF71 58491 broad.mit.edu 37 19 57133976 57133976 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:57133976G>A ENST00000328070.6 + 3 1555 c.1321G>A c.(1321-1323)Ggc>Agc p.G441S NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 441 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GTACAGGTGCGGCCAGTGCGG 0.647000 13 33 0 0 0.001368 0 0 KAT2B 8850 broad.mit.edu 37 3 20136767 20136767 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:20136767C>T ENST00000263754.4 + 3 898 c.443C>T c.(442-444)tCc>tTc p.S148F KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 148 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 GCTCATGTTTCCCACCTGGAG 0.403000 9 29 0 0 0.004482 0 0 BRAT1 221927 broad.mit.edu 37 7 2578367 2578367 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:2578367G>A ENST00000340611.4 - 14 2058 c.1802C>T c.(1801-1803)tCc>tTc p.S601F BRAT1_ENST00000473879.1_5'UTR NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 601 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CGAGTCTACGGAGAGGATGTG 0.672000 38 46 0 0 0.001706 0 0 HNRNPU 3192 broad.mit.edu 37 1 245018278 245018278 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:245018278C>T ENST00000444376.2 - 13 2598 c.2364G>A c.(2362-2364)caG>caA p.Q788Q HNRNPU_ENST00000283179.9_Silent_p.Q807Q|HNRNPU-AS1_ENST00000475997.1_RNA NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 807 Gly-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TACTTACACCCTGCTGCCACT 0.373000 10 90 0 0 0.000978 0 0 DKK2 27123 broad.mit.edu 37 4 107845783 107845783 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:107845783G>A ENST00000285311.3 - 3 1153 c.448C>T c.(448-450)Cga>Tga p.R150* DKK2_ENST00000513208.1_Nonsense_Mutation_p.R50*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.R104* NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 150 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCGTGGTTTCGATCTCTGTGC 0.448000 29 72 0 0 0.003755 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 65 109 7.75977e-34 1.8626e-33 0.003610 1 0 TREML3P 340206 broad.mit.edu 37 6 41177423 41177423 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:41177423G>A ENST00000564680.1 - 0 449 CAGAGACCAGGAGTTTGGGGC 0.592000 3 8 0 0 0.004672 0 0 SLC37A1 54020 broad.mit.edu 37 21 43963547 43963547 + Splice_Site SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:43963547A>G ENST00000352133.2 + 8 1547 c.563_splice c.e8-1 p.R189_splice SLC37A1_ENST00000398341.3_Splice_Site_p.R189_splice P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 189 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GTGCTGCAGGAGAGGTTTGAT 0.567000 75 139 0 0 0.003610 0 0 CDH22 64405 broad.mit.edu 37 20 44845504 44845504 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:44845504C>T ENST00000372262.3 - 4 1199 c.799G>A c.(799-801)Gtc>Atc p.V267I CDH22_ENST00000537909.1_Missense_Mutation_p.V267I|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 267 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) ACGTCGGTGACTACGATGGTG 0.627000 51 86 0 0 0.003610 0 0 RRN3P2 653390 broad.mit.edu 37 16 29105704 29105704 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:29105704G>A ENST00000564580.1 + 0 843 ATCAAAGGGTGGAAACAGCTA 0.348000 3 16 0 0 0.004672 0 0 THOC3 84321 broad.mit.edu 37 5 175387026 175387026 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:175387026G>A ENST00000265097.4 - 6 1092 c.1002C>T c.(1000-1002)gaC>gaT p.D334D THOC3_ENST00000514861.1_Silent_p.D149D NM_032361.2 NP_115737.1 Q96J01 THOC3_HUMAN THO complex 3 334 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing transcription export complex RNA binding endometrium(1)|kidney(1)|large_intestine(2) 4 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CCCGGCTGCTGTCATATTTGC 0.547000 23 40 0 0 0.003214 0 0 TEK 7010 broad.mit.edu 37 9 27168557 27168557 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:27168557C>T ENST00000380036.4 + 3 871 c.429C>T c.(427-429)ttC>ttT p.F143F TEK_ENST00000406359.4_Silent_p.F143F|TEK_ENST00000519097.1_Silent_p.F39F NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 143 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACATATCTTTCAAAAAGGTAT 0.343000 17 33 0 0 0.001882 0 0 DNAH8 1769 broad.mit.edu 37 6 38906695 38906695 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:38906695C>T ENST00000359357.3 + 77 11541 c.11287C>T c.(11287-11289)Ctc>Ttc p.L3763F DNAH8_ENST00000449981.2_Missense_Mutation_p.L3980F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3727F|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 GTTTGTACTCCTCATGACCTT 0.383000 32 47 0 0 0.002836 0 0 PPP1R26 9858 broad.mit.edu 37 9 138378269 138378269 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:138378269C>T ENST00000356818.2 + 4 2462 c.1913C>T c.(1912-1914)cCc>cTc p.P638L PPP1R26_ENST00000605660.1_Missense_Mutation_p.P638L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P638L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P638L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P638L NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 638 nucleolus protein binding CGAGACCTGCCCATCCAGGGC 0.657000 13 28 0 0 0.001368 0 0 OR2G3 81469 broad.mit.edu 37 1 247769173 247769173 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:247769173G>A ENST00000320002.2 + 1 318 c.286G>A c.(286-288)Ggt>Agt p.G96S RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CACTTACGGTGGTTGTGTGGC 0.483000 110 309 0 0 0.003610 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661316 35661316 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:35661316C>T ENST00000216106.5 + 5 1063 c.935C>T c.(934-936)tCt>tTt p.S312F HMGXB4_ENST00000444518.2_Missense_Mutation_p.S203F NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 312 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATAGATGATTCTTACCGAGAA 0.423000 22 58 0 0 0.003330 0 0 TMEM26 219623 broad.mit.edu 37 10 63188782 63188782 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:63188782G>A ENST00000399298.3 - 4 875 c.507C>T c.(505-507)atC>atT p.I169I TMEM26_ENST00000399293.1_Silent_p.I169I NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 169 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GATCTCGAGTGATCCCGCCTC 0.433000 23 9 0 0 0.001882 0 0 SP6 80320 broad.mit.edu 37 17 45925190 45925190 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:45925190C>T ENST00000536300.1 - 2 937 c.606G>A c.(604-606)ctG>ctA p.L202L SP6_ENST00000342234.2_Silent_p.L202L NM_001258248.1 NP_001245177.1 Q3SY56 SP6_HUMAN Sp6 transcription factor 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 GGCTGGAATCCAGCCCTTGAG 0.701000 10 10 0 0 0.000443 0 0 EFNB1 1947 broad.mit.edu 37 X 68060377 68060377 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:68060377G>A ENST00000204961.4 + 5 1701 c.921G>A c.(919-921)cgG>cgA p.R307R NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 307 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 TTCCCTTACGGACTACAGAGA 0.637000 17 8 0 0 0.000958 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185751 39185751 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:39185751G>A ENST00000273153.5 - 4 834 c.657C>T c.(655-657)atC>atT p.I219I CSRNP1_ENST00000514182.1_Silent_p.I219I NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 219 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CCTCCCGATCGATCCTTCGCA 0.632000 29 56 0 0 0.002096 0 0 CLCC1 23155 broad.mit.edu 37 1 109477402 109477402 + Missense_Mutation SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:109477402G>T ENST00000369971.2 - 11 1675 c.1546C>A c.(1546-1548)Cag>Aag p.Q516K CLCC1_ENST00000356970.2_Missense_Mutation_p.Q516K|CLCC1_ENST00000415331.1_Missense_Mutation_p.Q466K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000348264.2_Missense_Mutation_p.Q331K|CLCC1_ENST00000369968.2_Missense_Mutation_p.Q331K|CLCC1_ENST00000369969.2_Missense_Mutation_p.Q395K|CLCC1_ENST00000369970.3_Missense_Mutation_p.Q466K|CLCC1_ENST00000302500.4_Missense_Mutation_p.Q395K|CLCC1_ENST00000369976.1_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 516 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) GACTTGAGCTGGGCCTTTTCC 0.597000 10 722 2.17888e-05 5.15361e-05 0.000443 1 0 OR5R1 219479 broad.mit.edu 37 11 56184908 56184908 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:56184908G>A ENST00000312253.1 - 1 800 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CTGTGTCCAAGGAGTGATTTG 0.423000 21 17 0 0 0.001882 0 0 TRAV6 6956 broad.mit.edu 37 14 22237058 22237058 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:22237058G>A ENST00000390428.3 + 0 142 AGATAGAACAGAATTCCGAGG 0.473000 14 5 0 0 0.004007 0 0 NEK5 341676 broad.mit.edu 37 13 52686462 52686462 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:52686462C>T ENST00000355568.4 - 5 393 c.254G>A c.(253-255)gGa>gAa p.G85E NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 85 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAGATCCCCTCCATCACAATA 0.358000 20 48 0 0 0.002299 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238628209 238628209 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:238628209C>T ENST00000244815.5 + 3 437 c.198_splice c.e3+1 p.S66_splice LRRFIP1_ENST00000392000.4_Splice_Site_p.S66_splice|LRRFIP1_ENST00000308482.9_Splice_Site_p.S98_splice|LRRFIP1_ENST00000289175.6_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 66 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding p.S66L(2) NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AGAAACACATCGGTTAGTACC 0.373000 16 24 0 0 0.001216 0 0 NRXN3 9369 broad.mit.edu 37 14 79181167 79181167 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:79181167G>A ENST00000554719.1 + 5 1101 c.610G>A c.(610-612)Gaa>Aaa p.E204K NRXN3_ENST00000335750.5_Missense_Mutation_p.E204K NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 210 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCTGGACCTGGAAGGAGACAT 0.592000 62 32 0 0 0.003610 0 0 PSPH 5723 broad.mit.edu 37 7 56079530 56079530 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:56079530G>A ENST00000395471.3 - 8 1408 c.603C>T c.(601-603)atC>atT p.I201I PSPH_ENST00000275605.3_Silent_p.I201I|PSPH_ENST00000459834.1_5'UTR P78330 SERB_HUMAN phosphoserine phosphatase 201 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.I201I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTGTTGCCTGATCACATTTC 0.358000 19 61 0 0 0.001882 0 0 PAX8 7849 broad.mit.edu 37 2 113994297 113994297 + Splice_Site SNP C C T rs33934602 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:113994297C>T ENST00000429538.3 - 8 973 c.777_splice c.e8-1 p.G260_splice AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263334.5_Splice_Site_p.G260_splice|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Splice_Site_p.G260_splice|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000553869.2_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 260 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 CGGGTAGAGGCCCTGGGGAGC 0.622000 T PPARG follicular thyroid Thyroid dysgenesis 4 6 0 0 0.000248 0 0 MAATS1 89876 broad.mit.edu 37 3 119462918 119462918 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:119462918G>A ENST00000273390.5 + 14 1854 c.1777G>A c.(1777-1779)Gag>Aag p.E593K NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 ACTGCAGGAGGAGAGGAGGAT 0.577000 45 64 0 0 0.003610 0 0 DSCAM 1826 broad.mit.edu 37 21 41711317 41711317 + Silent SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:41711317G>T ENST00000400454.1 - 7 1713 c.1236C>A c.(1234-1236)gcC>gcA p.A412A NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 412 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTTCACTAAAGGCAGAAATAA 0.438000 11 7 1.08611e-07 2.57729e-07 0.000978 1 0 SELE 6401 broad.mit.edu 37 1 169702093 169702093 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:169702093C>T ENST00000333360.7 - 3 223 c.84G>A c.(82-84)acG>acA p.T28T SELE_ENST00000367777.1_Silent_p.T28T|SELE_ENST00000367776.1_Silent_p.T28T|SELE_ENST00000367781.4_Silent_p.T28T|SELE_ENST00000367779.4_Silent_p.T28T|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Silent_p.T28T|SELE_ENST00000367782.4_Silent_p.T28T|SELE_ENST00000367775.1_Silent_p.T28T|SELE_ENST00000367774.1_Silent_p.T28T NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 28 C-type lectin. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TCATAGCTTCCGTGGAGGTGT 0.418000 31 108 0 0 0.002096 0 0 CNTN4 152330 broad.mit.edu 37 3 2928759 2928759 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:2928759G>A ENST00000397461.1 + 9 1175 c.791G>A c.(790-792)gGa>gAa p.G264E CNTN4_ENST00000418658.1_Missense_Mutation_p.G264E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G264E|CNTN4_ENST00000358480.3_Missense_Mutation_p.G45E NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 264 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGAGCTGATGGAAAGCCAATA 0.393000 7 16 0 0 0.003080 0 0 RPS16 6217 broad.mit.edu 37 19 39924333 39924333 + Silent SNP C C T rs11555712 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:39924333C>T ENST00000339471.4 - 3 259 c.219G>A c.(217-219)aaG>aaA p.K73K RPS16_ENST00000251453.3_Silent_p.K73K|RPS16_ENST00000599539.1_Silent_p.K73K|RPS16_ENST00000601655.1_Silent_p.K56K P62249 RS16_HUMAN ribosomal protein S16 73 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2) 7 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GACCACCACCCTTTACACGGA 0.567000 24 27 0 0 0.003330 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751613 140751613 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:140751613T>C ENST00000576222.1 + 1 1783 c.1652T>C c.(1651-1653)tTg>tCg p.L551S PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGCGTGTTGGTGGACGAC 0.667000 18 16 0 0 0.006122 0 0 PRRC2A 7916 broad.mit.edu 37 6 31592079 31592079 + Missense_Mutation SNP T T G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:31592079T>G ENST00000376033.2 + 4 566 c.332T>G c.(331-333)cTg>cGg p.L111R PRRC2A_ENST00000376007.4_Missense_Mutation_p.L111R|PRRC2A_ENST00000469577.1_3'UTR NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 111 4 X 57 AA type A repeats. ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8; CAA78744). cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCGCAGCCACTGCCGGCTTCA 0.607000 14 150 0 0 0.003163 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644195 37644195 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:37644195G>A ENST00000356958.4 - 5 864 c.606C>T c.(604-606)ttC>ttT p.F202F ZNF585A_ENST00000392157.2_Silent_p.F147F|ZNF585A_ENST00000355533.2_Silent_p.F147F|ZNF585A_ENST00000292841.5_Silent_p.F147F|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGATGCCTGAAGAGGGACG 0.388000 31 67 0 0 0.002445 0 0 CUL9 23113 broad.mit.edu 37 6 43164398 43164398 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:43164398G>A ENST00000252050.4 + 11 2685 c.2601G>A c.(2599-2601)gcG>gcA p.A867A CUL9_ENST00000354495.3_Silent_p.A757A|CUL9_ENST00000372647.2_Silent_p.A867A NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 867 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTTCTGCAGCGAGAAATGGCT 0.517000 73 197 0 0 0.003610 0 0 MYH1 4619 broad.mit.edu 37 17 10401153 10401153 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:10401153C>T ENST00000226207.5 - 31 4357 c.4263G>A c.(4261-4263)acG>acA p.T1421T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1421 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCCTCTGCTTCGTCTTCTCAA 0.473000 22 45 0 0 0.002299 0 0 AHCTF1 25909 broad.mit.edu 37 1 247079503 247079503 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:247079503G>A ENST00000366508.1 - 3 557 c.421C>T c.(421-423)Ctc>Ttc p.L141F AHCTF1_ENST00000391829.2_Missense_Mutation_p.L106F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.L115F Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 106 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TAAAGACAGAGAACACTCCCT 0.378000 15 35 0 0 0.001216 0 0 ZBP1 81030 broad.mit.edu 37 20 56191474 56191474 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:56191474C>T ENST00000340462.4 - 2 365 c.85G>A c.(85-87)Gtg>Atg p.V29M ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Missense_Mutation_p.V29M|ZBP1_ENST00000541799.1_Missense_Mutation_p.V29M|ZBP1_ENST00000371173.3_Missense_Mutation_p.V29M|ZBP1_ENST00000538947.1_5'UTR Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 29 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) GCAAGTTTCACCGGGGAGCCA 0.577000 53 103 0 0 0.003610 0 0 CYP3A43 64816 broad.mit.edu 37 7 99461188 99461188 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:99461188G>A ENST00000354829.2 + 12 1385 c.1282G>A c.(1282-1284)Gat>Aat p.D428N CYP3A43_ENST00000417625.1_Missense_Mutation_p.D318N|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.D429N|CYP3A43_ENST00000415413.1_Missense_Mutation_p.D217N NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 428 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GGACAGCATAGATCTTTACAG 0.378000 13 68 0 0 0.003163 0 0 PILRB 29990 broad.mit.edu 37 7 99956404 99956404 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:99956404C>T ENST00000310771.4 + 16 2652 c.156C>T c.(154-156)ccC>ccT p.P52P PILRB_ENST00000444874.1_Intron|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444073.1_Silent_p.P52P|PILRB_ENST00000452089.1_Silent_p.P52P Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 52 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGAAATCCCCTTCTCCTTCT 0.542000 20 27 0 0 0.001523 0 0 ABLIM1 3983 broad.mit.edu 37 10 116251620 116251620 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:116251620G>A ENST00000533213.2 - 7 1033 c.732C>T c.(730-732)taC>taT p.Y244Y ABLIM1_ENST00000277895.5_Silent_p.Y304Y|ABLIM1_ENST00000369253.2_5'UTR|ABLIM1_ENST00000392952.3_5'UTR|ABLIM1_ENST00000369266.3_5'UTR|ABLIM1_ENST00000369252.4_Silent_p.Y244Y O14639 ABLM1_HUMAN actin binding LIM protein 1 304 LIM zinc-binding 3. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) AGCTGGGGTGGTAATGTTTGT 0.453000 76 121 0 0 0.003610 0 0 PROKR2 128674 broad.mit.edu 37 20 5282887 5282887 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:5282887G>A ENST00000546004.1 - 3 1200 c.954C>T c.(952-954)gtC>gtT p.V318V PROKR2_ENST00000217270.3_Silent_p.V318V Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 318 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CGATGCACTCGACCACGTAGA 0.512000 HNSCC(71;0.22) 50 106 0 0 0.003610 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356828 104356828 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:104356828C>T ENST00000374806.1 - 1 455 c.385G>A c.(385-387)Gac>Aac p.D129N GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 126 EF-hand 4. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AGCTGCCAGTCCGTCAGGTTG 0.507000 26 55 0 0 0.005443 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004527 101004527 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:101004527C>T ENST00000556751.1 - 5 4773 c.1369G>A c.(1369-1371)Ggg>Agg p.G457R BEGAIN_ENST00000355173.2_Missense_Mutation_p.G521R|BEGAIN_ENST00000443071.2_Missense_Mutation_p.G521R Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 521 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) AGCCTGTCCCCGTCCCCCCCC 0.736000 14 4 0 0 0.003163 0 0 CD58 965 broad.mit.edu 37 1 117064557 117064557 + Missense_Mutation SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:117064557A>T ENST00000457047.2 - 4 730 c.677T>A c.(676-678)aTt>aAt p.I226N CD58_ENST00000369487.3_Missense_Mutation_p.I226N|CD58_ENST00000369489.5_Missense_Mutation_p.I226N NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 226 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) ACATGTTGTAATTACTGCTAA 0.289000 7 10 0 0 0.003080 0 0 DNAJC7 7266 broad.mit.edu 37 17 40152539 40152539 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:40152539C>T ENST00000457167.4 - 2 363 c.127G>A c.(127-129)Gat>Aat p.D43N DNAJC7_ENST00000426588.3_5'UTR|DNAJC7_ENST00000316603.7_Intron NM_003315.3 NP_003306.3 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 43 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding p.D33Y(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) TCATTGTAATCTTTCTTGGCA 0.318000 22 54 0 0 0.005443 0 0 PSMD4 5710 broad.mit.edu 37 1 151238481 151238481 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:151238481C>T ENST00000368884.3 + 7 736 c.654_splice c.e7-1 p.A219_splice PSMD4_ENST00000368881.4_Splice_Site_p.A219_splice NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 219 Essential for ubiquitin-binding. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTTCACCAGGCCCTTCGTGTA 0.627000 30 45 0 0 0.003271 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526434 97526434 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:97526434C>T ENST00000305476.5 - 15 2563 c.2431G>A c.(2431-2433)Gat>Aat p.D811N NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 811 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CTCAGTTCATCCGCGAGCTCA 0.652000 58 71 0 0 0.003610 0 0 PSMD4 5710 broad.mit.edu 37 1 151238482 151238482 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:151238482C>T ENST00000368884.3 + 7 737 c.657C>T c.(655-657)gcC>gcT p.A219A PSMD4_ENST00000368881.4_Silent_p.A219A NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 219 Essential for ubiquitin-binding. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCACCAGGCCCTTCGTGTAT 0.622000 31 45 0 0 0.003755 0 0 OR6M1 390261 broad.mit.edu 37 11 123676656 123676656 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:123676656C>T ENST00000309154.2 - 1 439 c.402G>A c.(400-402)atG>atA p.M134I NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) CCCTGCTGTTCATGATGACCG 0.527000 16 15 0 0 0.004990 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785585 1785585 + Silent SNP G G C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:1785585G>C ENST00000539485.1 - 26 3539 c.3306C>G c.(3304-3306)gtC>gtG p.V1102V ATP8B3_ENST00000525591.1_Silent_p.V1055V|ATP8B3_ENST00000310127.6_Silent_p.V1092V O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1092 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) TGAAGAAGTTGACCAGAGAGG 0.612000 13 38 0 0 0.001368 0 0 JUP 3728 broad.mit.edu 37 17 39777916 39777916 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:39777916C>T ENST00000540235.1 - 7 1239 c.1240G>A c.(1240-1242)Gag>Aag p.E414K KRT17_ENST00000311208.8_Missense_Mutation_p.E255K P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TCACGCATCTCGTTGAGGATG 0.587000 23 46 0 0 0.003954 0 0 PKD1 5310 broad.mit.edu 37 16 2161314 2161314 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:2161314C>T ENST00000262304.4 - 15 4062 c.3854G>A c.(3853-3855)cGg>cAg p.R1285Q PKD1_ENST00000423118.1_Missense_Mutation_p.R1285Q NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1285 PKD 7. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTGCAGGCTCCGGGCCAGGTG 0.706000 21 23 0 0 0.001882 0 0 DOPEY1 23033 broad.mit.edu 37 6 83851761 83851761 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:83851761C>T ENST00000349129.2 + 24 5797 c.5537C>T c.(5536-5538)aCc>aTc p.T1846I DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.T1837I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.T1827I NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1846 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ACCACCAGGACCAAGGTATGT 0.408000 37 45 0 0 0.001485 0 0 DUOX1 53905 broad.mit.edu 37 15 45433531 45433531 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:45433531C>T ENST00000321429.4 + 15 2014 c.1607C>T c.(1606-1608)aCc>aTc p.T536I DUOX1_ENST00000561166.1_Missense_Mutation_p.T182I|DUOX1_ENST00000389037.3_Missense_Mutation_p.T536I NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 536 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CGAAATACCACCCTGCAGGAC 0.532000 36 37 0 0 0.003755 0 0 VEGFA 7422 broad.mit.edu 37 6 43752296 43752296 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:43752296G>A ENST00000372067.3 + 7 1607 c.1113G>A c.(1111-1113)cgG>cgA p.R371R VEGFA_ENST00000523950.1_Silent_p.R191R|VEGFA_ENST00000518689.1_Silent_p.R209R|VEGFA_ENST00000372077.4_Silent_p.R147R|VEGFA_ENST00000417285.2_3'UTR|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000457104.2_Silent_p.R137R|VEGFA_ENST00000230480.6_Silent_p.R163R|VEGFA_ENST00000523125.1_3'UTR|VEGFA_ENST00000413642.3_Silent_p.R389R|VEGFA_ENST00000520948.1_Silent_p.R215R|VEGFA_ENST00000372055.4_Silent_p.R412R|VEGFA_ENST00000324450.6_Silent_p.R317R|VEGFA_ENST00000425836.2_Silent_p.R395R|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000523873.1_Silent_p.R232R|VEGFA_ENST00000372064.4_Silent_p.R327R NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A 232 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) AGCCGAGGCGGTGAGCCGGGC 0.587000 46 122 0 0 0.003610 0 0 CSMD2 114784 broad.mit.edu 37 1 33998707 33998707 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:33998707C>T ENST00000373381.4 - 64 10290 c.10114G>A c.(10114-10116)Gag>Aag p.E3372K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3228 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGCGGTGCTCGGAGCCACCC 0.667000 14 21 0 0 0.003163 0 0 CACNA1A 773 broad.mit.edu 37 19 13386718 13386718 + Nonsense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:13386718C>T ENST00000360228.5 - 24 3934 c.3935G>A c.(3934-3936)tGg>tAg p.W1312* CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.W1313* NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1313 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGAATATTCCAGAGGTCACG 0.577000 19 36 0 0 0.001882 0 0 ERBB2 2064 broad.mit.edu 37 17 37883074 37883074 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:37883074G>A ENST00000406381.2 + 27 3397 c.2887G>A c.(2887-2889)Gac>Aac p.D963N ERBB2_ENST00000541774.1_Missense_Mutation_p.D978N|ERBB2_ENST00000540147.1_Missense_Mutation_p.D963N|ERBB2_ENST00000445658.2_Missense_Mutation_p.D717N|ERBB2_ENST00000269571.5_Missense_Mutation_p.D993N|ERBB2_ENST00000584601.1_Missense_Mutation_p.D963N|ERBB2_ENST00000584450.1_Missense_Mutation_p.D993N NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 993 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACAGAATGAGGACTTGGGCCC 0.612000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 17 78 0 0 0.004990 0 0 SETD2 29072 broad.mit.edu 37 3 47162123 47162123 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:47162123G>A ENST00000409792.3 - 3 4045 c.4003C>T c.(4003-4005)Cgt>Tgt p.R1335C NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1335 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTTCTTCACGATCATCTGTT 0.458000 """N, F, S, Mis""" clear cell renal carcinoma 14 37 0 0 0.004007 0 0 OR6C4 341418 broad.mit.edu 37 12 55945190 55945190 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:55945190C>T ENST00000394256.2 + 1 208 c.180C>T c.(178-180)ttC>ttT p.F60F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TGTATTTCTTCCTCCGGAATT 0.418000 42 66 0 0 0.002522 0 0 MZF1 7593 broad.mit.edu 37 19 59081865 59081865 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:59081865G>A ENST00000215057.2 - 3 986 c.426C>T c.(424-426)gtC>gtT p.V142V AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Silent_p.V142V|MZF1_ENST00000594234.1_Silent_p.V142V|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Silent_p.V142V NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 142 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) TCTCTGATAGGACCTCCTGGC 0.602000 14 26 0 0 0.003163 0 0 TRBV9 28586 broad.mit.edu 37 7 142239828 142239828 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:142239828G>A ENST00000390363.2 - 0 98 GAATCCACTGGGCCTGTGTGT 0.512000 19 53 0 0 0.001523 0 0 ZBP1 81030 broad.mit.edu 37 20 56191489 56191489 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:56191489C>T ENST00000340462.4 - 2 350 c.70G>A c.(70-72)Gag>Aag p.E24K ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000343535.4_Missense_Mutation_p.E24K|ZBP1_ENST00000541799.1_Missense_Mutation_p.E24K|ZBP1_ENST00000371173.3_Missense_Mutation_p.E24K|ZBP1_ENST00000538947.1_5'UTR Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 24 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) GAGCCAGCCTCTGTCAGCACC 0.582000 50 94 0 0 0.003610 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6990804 6990804 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:6990804C>T ENST00000600751.1 - 0 53 NR_024075.1 GGAACCTGCTCCCCATAGCAC 0.512000 38 95 0 0 0.001287 0 0 DNAJC22 79962 broad.mit.edu 37 12 49745140 49745140 + Missense_Mutation SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:49745140A>T ENST00000549441.2 + 4 2085 c.881A>T c.(880-882)cAt>cTt p.H294L DNAJC22_ENST00000395069.3_Missense_Mutation_p.H294L Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 294 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 GAAGAAATACATCGGAGTTAC 0.517000 24 46 0 0 0.004656 0 0 CBL 867 broad.mit.edu 37 11 119145646 119145646 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:119145646C>T ENST00000264033.4 + 5 1228 c.852C>T c.(850-852)ttC>ttT p.F284F NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 284 Cbl-PTB.|SH2-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCAGAAATTCATTCACAAAC 0.423000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 35 25 0 0 0.004878 0 0 ABCA7 10347 broad.mit.edu 37 19 1063641 1063641 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:1063641C>T ENST00000263094.6 + 43 6042 c.5811C>T c.(5809-5811)gcC>gcT p.A1937A ABCA7_ENST00000433129.1_Silent_p.A1937A|ABCA7_ENST00000435683.2_Silent_p.A1799A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1937 ABC transporter 2. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCGACGGCCCTGGCGCTGG 0.697000 11 30 0 0 0.000673 0 0 MCM3AP 8888 broad.mit.edu 37 21 47674389 47674389 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:47674389G>A ENST00000397708.1 - 20 4307 c.4053C>T c.(4051-4053)ctC>ctT p.L1351L MCM3AP_ENST00000291688.1_Silent_p.L1351L|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1351 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GCCTCCCAGGGAGGTGCTCAG 0.592000 17 47 0 0 0.004990 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795148 142795148 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:142795148C>T ENST00000370498.1 - 2 1283 c.530G>A c.(529-531)gGt>gAt p.G177D NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 177 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GTCCTCCCCACCCTCCTGTGA 0.473000 157 55 0 0 0.003610 0 0 SSX3 10214 broad.mit.edu 37 X 48211544 48211544 + Silent SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:48211544G>T ENST00000298396.2 - 5 373 c.321C>A c.(319-321)atC>atA p.I107I SSX3_ENST00000376893.3_Silent_p.I107I|SSX3_ENST00000376895.1_Silent_p.I19I NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCTTCGGGAAGATTCCCTGGA 0.443000 67 30 1.94393e-27 4.65841e-27 0.003610 1 0 FAM110B 90362 broad.mit.edu 37 8 59059230 59059230 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:59059230C>T ENST00000361488.3 + 5 1321 c.441C>T c.(439-441)caC>caT p.H147H FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 147 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GGCCGCCCCACCGGTCGGAAG 0.657000 20 13 0 0 0.000958 0 0 PRPSAP1 5635 broad.mit.edu 37 17 74328483 74328483 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:74328483G>A ENST00000446526.3 - 4 769 c.324C>T c.(322-324)atC>atT p.I108I PRPSAP1_ENST00000324684.4_Silent_p.I5I NM_002766.2 NP_002757.2 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 1 79 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 CGTAAGCCATGATGAGCAACT 0.453000 19 58 0 0 0.001216 0 0 KIAA1549 57670 broad.mit.edu 37 7 138546124 138546124 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:138546124C>T ENST00000440172.1 - 16 5056 c.5008G>A c.(5008-5010)Gcc>Acc p.A1670T KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1620T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1670T NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1670 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TACTGGGAGGCCGGGAAGGGA 0.632000 O BRAF pilocytic astrocytoma 31 36 0 0 0.001512 0 0 SNHG14 104472715 broad.mit.edu 37 15 25446288 25446288 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:25446288G>A ENST00000424208.1 + 0 1863 SNHG14_ENST00000424333.1_RNA NR_003305.1 CCTAGACTGTGAAATGGGAGG 0.562000 3 2 0 0 0.004672 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 38 0 0 0.000248 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345485 89345485 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:89345485G>A ENST00000301030.4 - 9 7925 c.7465C>T c.(7465-7467)Ccc>Tcc p.P2489S ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2489S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2489 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTCACCACGGGGATGTGGAGC 0.667000 8 12 0 0 0.004482 0 0 PAPPA 5069 broad.mit.edu 37 9 118974049 118974049 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:118974049C>T ENST00000328252.3 + 4 2125 c.1756C>T c.(1756-1758)Ccc>Tcc p.P586S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 586 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGCAGTGACCCCTGCATGGA 0.567000 68 88 0 0 0.003610 0 0 MYH4 4622 broad.mit.edu 37 17 10355767 10355767 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:10355767G>A ENST00000255381.2 - 26 3424 c.3314C>T c.(3313-3315)gCa>gTa p.A1105V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1105 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TAGCTGTATTGCAAGGGCTTG 0.353000 18 38 0 0 0.001216 0 0 KRT36 8689 broad.mit.edu 37 17 39646003 39646003 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:39646003C>T ENST00000328119.6 - 1 113 c.114G>A c.(112-114)agG>agA p.R38R KRT36_ENST00000393986.2_Intron NM_003771.4 NP_003762.1 O76013 KRT36_HUMAN keratin 36 38 Head. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GACTGGGGACCCTGCAGGAGC 0.627000 19 46 0 0 0.001882 0 0 AKR1B1 231 broad.mit.edu 37 7 134133183 134133183 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:134133183G>A ENST00000285930.4 - 6 694 c.615C>T c.(613-615)atC>atT p.I205I NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 205 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CGGTCACCACGATGCCTTTGG 0.527000 96 80 0 0 0.003610 0 0 C2orf83 56918 broad.mit.edu 37 2 228476230 228476230 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:228476230G>A ENST00000264387.4 - 3 419 c.333C>T c.(331-333)tcC>tcT p.S111S C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 111 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 GGGCAGTGCTGGAGAGAGTTT 0.532000 29 98 0 0 0.003755 0 0 MUC21 394263 broad.mit.edu 37 6 30955900 30955900 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:30955900C>T ENST00000376296.3 + 3 1871 c.1630C>T c.(1630-1632)Cct>Tct p.P544S MUC21_ENST00000486149.2_Missense_Mutation_p.P90S NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 544 Cytoplasmic tail. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CAGGTGGAGTCCTAACTGGTT 0.602000 29 51 0 0 0.002445 0 0 MYH15 22989 broad.mit.edu 37 3 108129630 108129630 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:108129630G>A ENST00000273353.3 - 32 4411 c.4355C>T c.(4354-4356)gCc>gTc p.A1452V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1452 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GTCCAGCCTGGCTGCTGCAGA 0.632000 10 29 0 0 0.000673 0 0 OR1M1 125963 broad.mit.edu 37 19 9204840 9204840 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:9204840G>A ENST00000429566.3 + 1 986 c.920G>A c.(919-921)aGa>aAa p.R307K NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGGTCAACAGAAAGATCACC 0.502000 17 23 0 0 0.006122 0 0 LAMA5 3911 broad.mit.edu 37 20 60886750 60886750 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:60886750C>T ENST00000252999.3 - 71 9792 c.9726G>A c.(9724-9726)ccG>ccA p.P3242P NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3242 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGAGCCTCGGGGGCCCCT 0.667000 4 7 0 0 0.001984 0 0 CACNA1A 773 broad.mit.edu 37 19 13386717 13386717 + Nonsense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:13386717C>T ENST00000360228.5 - 24 3935 c.3936G>A c.(3934-3936)tgG>tgA p.W1312* CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.W1313* NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1313 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGAGAATATTCCAGAGGTCAC 0.577000 19 34 0 0 0.001882 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820351 179820351 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:179820351G>A ENST00000367612.3 - 4 569 c.182C>T c.(181-183)cCa>cTa p.P61L NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 61 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 TGCACTTTCTGGACCTTCTGT 0.433000 34 146 0 0 0.004878 0 0 OR4A47 403253 broad.mit.edu 37 11 48510449 48510449 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:48510449G>A ENST00000446524.1 + 1 181 c.105G>A c.(103-105)ttG>ttA p.L35L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCTACATTTTGACCATGGTGG 0.428000 7 1 0 0 0.003080 0 0 SH3TC1 54436 broad.mit.edu 37 4 8228805 8228805 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:8228805G>A ENST00000539824.1 + 12 1530 c.1156G>A c.(1156-1158)Gag>Aag p.E386K SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.E462K Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 462 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CTGCCCCCAGGAGCCAGCGTC 0.607000 11 40 0 0 0.000978 0 0 CCDC38 120935 broad.mit.edu 37 12 96282255 96282255 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:96282255G>A ENST00000344280.3 - 10 1458 c.901C>T c.(901-903)Cca>Tca p.P301S SNRPF_ENST00000552085.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 301 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TTTTTCTCTGGAGTGCGAGTC 0.403000 83 60 0 0 0.003610 0 0 TNNT3 7140 broad.mit.edu 37 11 1955641 1955641 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:1955641C>T ENST00000381558.1 + 11 701 c.422C>T c.(421-423)tCc>tTc p.S141F TNNT3_ENST00000446240.1_Missense_Mutation_p.S130F|TNNT3_ENST00000360603.3_Missense_Mutation_p.S143F|TNNT3_ENST00000397304.2_Missense_Mutation_p.S130F|TNNT3_ENST00000397301.1_Missense_Mutation_p.S160F|TNNT3_ENST00000381549.3_Missense_Mutation_p.S141F|TNNT3_ENST00000381561.4_Missense_Mutation_p.S152F|TNNT3_ENST00000278317.6_Missense_Mutation_p.S149F|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.S147F|TNNT3_ENST00000381579.3_Missense_Mutation_p.S141F|TNNT3_ENST00000381548.3_Missense_Mutation_p.S151F P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 160 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) GCTCTGTCTTCCATGGGAGCC 0.597000 15 13 0 0 0.004007 0 0 TRERF1 55809 broad.mit.edu 37 6 42237138 42237138 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:42237138C>T ENST00000541110.1 - 5 759 c.191G>A c.(190-192)gGt>gAt p.G64D TRERF1_ENST00000354325.2_Missense_Mutation_p.G64D|TRERF1_ENST00000372922.4_Missense_Mutation_p.G64D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G64D|TRERF1_ENST00000372917.4_Missense_Mutation_p.G64D Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 64 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAAGCCCAGACCATCCCGTGT 0.582000 38 98 0 0 0.004289 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228438 142228438 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:142228438C>T ENST00000519067.1 - 4 1451 c.1148G>A c.(1147-1149)gGg>gAg p.G383E SLC45A4_ENST00000517878.1_Missense_Mutation_p.G434E|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G376E|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G383E Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 434 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) GCAGTGGGACCCAAGCTTGCC 0.682000 17 134 0 0 0.000958 0 0 SATB1 6304 broad.mit.edu 37 3 18462335 18462335 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:18462335C>T ENST00000338745.6 - 2 1859 c.125G>A c.(124-126)aGa>aAa p.R42K SATB1_ENST00000454909.2_Missense_Mutation_p.R42K|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Missense_Mutation_p.R42K|SATB1_ENST00000417717.2_Missense_Mutation_p.R42K NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 42 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 AAGCCTTCCTCTTCCTAGCGG 0.498000 64 77 0 0 0.003610 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30925751 30925751 + Missense_Mutation SNP C C T rs143705474 byFrequency TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:30925751C>T ENST00000428041.2 + 3 404 c.259C>T c.(259-261)Cgg>Tgg p.R87W NM_001039841.1 NP_001034930.1 Q3KRB8 RHGBB_HUMAN Rho GTPase activating protein 11B 87 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) AGGGCTTTTTCGGAAATCAGG 0.358000 25 24 0 0 0.001512 0 0 CEP63 80254 broad.mit.edu 37 3 134256013 134256013 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:134256013C>T ENST00000337090.3 + 6 631 c.458C>T c.(457-459)tCg>tTg p.S153L CEP63_ENST00000606977.1_Missense_Mutation_p.S153L|CEP63_ENST00000513612.2_Missense_Mutation_p.S153L|CEP63_ENST00000383229.3_Missense_Mutation_p.S153L|CEP63_ENST00000332047.5_Missense_Mutation_p.S153L|CEP63_ENST00000354446.3_Missense_Mutation_p.S153L Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 153 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding p.S153L(1) kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CGTCAGAAATCGCTGGACTGG 0.438000 30 33 0 0 0.001512 0 0 FAM71B 153745 broad.mit.edu 37 5 156589596 156589596 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:156589596G>A ENST00000302938.4 - 2 1775 c.1680C>T c.(1678-1680)atC>atT p.I560I NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 560 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTTAGCCACGATATCTACCT 0.483000 593 280 0 0 0.003610 0 0 COQ2 27235 broad.mit.edu 37 4 84193274 84193274 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:84193274C>T ENST00000311469.4 - 4 743 c.744G>A c.(742-744)atG>atA p.M248I COQ2_ENST00000311461.7_Missense_Mutation_p.M198I|COQ2_ENST00000439031.2_Missense_Mutation_p.M211I NM_015697.7 NP_056512.5 Q96H96 COQ2_HUMAN coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 198 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1) 8 Hepatocellular(203;0.114) AAATTCTTTTCATTAGTGGGT 0.368000 13 21 0 0 0.001368 0 0 HEATR1 55127 broad.mit.edu 37 1 236748364 236748364 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:236748364C>T ENST00000366582.3 - 17 2316 c.2202G>A c.(2200-2202)caG>caA p.Q734Q HEATR1_ENST00000366581.2_Silent_p.Q734Q NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 734 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTATTTTTTTCTGCAACAAAC 0.383000 24 40 0 0 0.005443 0 0 NCAPD2 9918 broad.mit.edu 37 12 6637364 6637364 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:6637364C>T ENST00000315579.5 + 25 3968 c.3169C>T c.(3169-3171)Cgt>Tgt p.R1057C NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1012C NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1057 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CTCCCAGCTTCGTCTTCTGTT 0.527000 107 173 0 0 0.003610 0 0 PTPRO 5800 broad.mit.edu 37 12 15656912 15656912 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:15656912G>A ENST00000281171.4 + 6 1506 c.1176G>A c.(1174-1176)ggG>ggA p.G392G PTPRO_ENST00000348962.2_Silent_p.G392G|PTPRO_ENST00000543886.1_Silent_p.G392G NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 392 Fibronectin type-III 4. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AGGAACCTGGGAAATATAAGT 0.338000 21 41 0 0 0.001882 0 0 AGTR2 186 broad.mit.edu 37 X 115303742 115303742 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:115303742G>A ENST00000371906.4 + 3 399 c.209G>A c.(208-210)tGt>tAt p.C70Y NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 70 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 ACACTGTTTTGTTGTCAAAAG 0.368000 28 35 0 0 0.005443 0 0 KIF24 347240 broad.mit.edu 37 9 34254447 34254447 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:34254447C>T ENST00000379166.2 - 13 4157 c.4038G>A c.(4036-4038)agG>agA p.R1346R KIF24_ENST00000379174.3_Silent_p.R1212R|KIF24_ENST00000402558.2_Silent_p.R1346R|KIF24_ENST00000345050.2_Silent_p.R1212R NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1346 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GCAGCTGGCTCCTCAGACTCT 0.552000 22 53 0 0 0.001523 0 0 SPRR3 6707 broad.mit.edu 37 1 152975753 152975753 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:152975753C>T ENST00000331860.3 + 3 407 c.257C>T c.(256-258)cCt>cTt p.P86L SPRR3_ENST00000542696.1_Missense_Mutation_p.P86L|SPRR3_ENST00000295367.4_Missense_Mutation_p.P86L NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 86 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCAAGGTCCCTGAGCCAGGC 0.602000 13 68 0 0 0.001855 0 0 NLRP9 338321 broad.mit.edu 37 19 56244576 56244576 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:56244576C>T ENST00000332836.2 - 2 648 c.621G>A c.(619-621)ccG>ccA p.P207P NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 207 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTGAAGACTCCGGCCAGTCCC 0.443000 16 23 0 0 0.003163 0 0 TRERF1 55809 broad.mit.edu 37 6 42200500 42200500 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:42200500G>A ENST00000541110.1 - 17 3825 c.3257C>T c.(3256-3258)tCg>tTg p.S1086L TRERF1_ENST00000354325.2_Missense_Mutation_p.S983L|TRERF1_ENST00000372922.4_Missense_Mutation_p.S1066L|TRERF1_ENST00000340840.2_Missense_Mutation_p.S995L|TRERF1_ENST00000372917.4_Missense_Mutation_p.S995L Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1066 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCTCTTTACCGAACAGTACCC 0.642000 35 43 0 0 0.005524 0 0 MST1 4485 broad.mit.edu 37 3 49723120 49723120 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:49723120G>A ENST00000449682.2 - 11 1657 c.1296C>T c.(1294-1296)ttC>ttT p.F432F MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 418 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGTTCCGGCAGAAGTTCTCCT 0.587000 24 32 0 0 0.003330 0 0 WWC1 23286 broad.mit.edu 37 5 167868736 167868736 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:167868736C>T ENST00000265293.4 + 16 2832 c.2330C>T c.(2329-2331)tCg>tTg p.S777L WWC1_ENST00000521089.1_Missense_Mutation_p.S777L|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 777 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GGGGAGAGGTCGACTCGCTGG 0.607000 43 34 0 0 0.001951 0 0 LCMT1 51451 broad.mit.edu 37 16 25186276 25186276 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:25186276C>T ENST00000399069.3 + 10 1058 c.903C>T c.(901-903)ttC>ttT p.F301F LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.F246F NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 301 F -> L (in Ref. 3; BAB15270). protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) CACTTGAATTCCTGGATGAAA 0.428000 14 9 0 0 0.001855 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090560 22090560 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:22090560G>A ENST00000542354.1 + 0 232 CCAGCAACATGATGGCGGAGC 0.483000 75 43 0 0 0.003610 0 0 MYH11 4629 broad.mit.edu 37 16 15831308 15831308 + Silent SNP G G A rs147605116 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:15831308G>A ENST00000338282.6 - 25 3397 c.3291C>T c.(3289-3291)gcC>gcT p.A1097A MYH11_ENST00000396324.3_Silent_p.A1104A|MYH11_ENST00000452625.2_Silent_p.A1104A|MYH11_ENST00000576790.1_Silent_p.A1097A|MYH11_ENST00000300036.5_Silent_p.A1097A NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1097 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCCGCTACCTGGCCAGGGCCG 0.637000 T CBFB AML 27 35 0 0 0.004656 0 0 NCAPG 64151 broad.mit.edu 37 4 17812717 17812717 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:17812717G>A ENST00000251496.2 + 1 193 c.17G>A c.(16-18)aGg>aAg p.R6K NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 6 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) GCGGAAAGGAGGCTGCTGTCG 0.682000 4 1 0 0 0.000602 0 0 CCDC81 60494 broad.mit.edu 37 11 86123489 86123489 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:86123489G>A ENST00000278487.3 + 10 1563 c.484G>A c.(484-486)Gaa>Aaa p.E162K CCDC81_ENST00000528728.1_Missense_Mutation_p.E162K|CCDC81_ENST00000445632.2_Missense_Mutation_p.E427K|CCDC81_ENST00000354755.1_Missense_Mutation_p.E337K Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 427 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TAAGCAAGAGGAATATTCCCG 0.413000 29 29 0 0 0.002096 0 0 THSD7A 221981 broad.mit.edu 37 7 11513999 11513999 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:11513999G>A ENST00000423059.3 - 8 2465 c.2214C>T c.(2212-2214)atC>atT p.I738I AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 738 TSP type-1 7. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTCGCACACAGATGACTTTTC 0.507000 HNSCC(18;0.044) 60 56 0 0 0.003610 0 0 LRRC18 474354 broad.mit.edu 37 10 50122129 50122129 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:50122129G>A ENST00000374160.3 - 1 148 c.72C>T c.(70-72)atC>atT p.I24I WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.I24I|WDFY4_ENST00000325239.5_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 24 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CATCAAAAGTGATTTTGATGC 0.468000 32 28 0 0 0.002096 0 0 VN1R4 317703 broad.mit.edu 37 19 53770597 53770597 + Missense_Mutation SNP T T G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:53770597T>G ENST00000311170.4 - 1 375 c.322A>C c.(322-324)Acg>Ccg p.T108P NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 108 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GAGCTGACCGTGATCACCTGG 0.507000 HNSCC(26;0.072) 15 45 0 0 0.003163 0 0 AC015849.16 0 broad.mit.edu 37 17 34235721 34235721 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:34235721C>T ENST00000587132.1 - 0 2306 AAATGTGTGACTTCAGTCAGG 0.453000 14 20 0 0 0.001855 0 0 ATAD5 79915 broad.mit.edu 37 17 29161414 29161414 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:29161414C>T ENST00000321990.4 + 2 693 c.315C>T c.(313-315)ttC>ttT p.F105F CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 105 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TGGAAATGTTCTCAAATGTAG 0.338000 26 99 0 0 0.005443 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645328 122645328 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:122645328C>T ENST00000195173.4 - 9 1350 c.1047G>A c.(1045-1047)ccG>ccA p.P349P SEMA5B_ENST00000357599.3_Silent_p.P349P|SEMA5B_ENST00000451055.2_Silent_p.P403P Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 349 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGACCTCGCCCGGGCGGGAGC 0.602000 8 22 0 0 0.000443 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486628 11486628 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:11486628C>T ENST00000312423.2 + 2 685 c.626C>T c.(625-627)cCg>cTg p.P209L NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 209 ATGATCGCTCCGTGGCCCACC 0.622000 18 24 0 0 0.001882 0 0 COL6A6 131873 broad.mit.edu 37 3 130394152 130394152 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:130394152G>A ENST00000358511.6 + 36 6734 c.6703G>A c.(6703-6705)Gat>Aat p.D2235N COL6A6_ENST00000453409.2_Missense_Mutation_p.D2235N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2235 Nonhelical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAGTGGCAGAGATGATGCTAT 0.353000 5 7 0 0 0.000602 0 0 CCDC108 255101 broad.mit.edu 37 2 219892939 219892939 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:219892939A>G ENST00000341552.5 - 12 1918 c.1835T>C c.(1834-1836)cTc>cCc p.L612P CCDC108_ENST00000409865.3_Missense_Mutation_p.L601P|CCDC108_ENST00000453220.1_Missense_Mutation_p.L612P|CCDC108_ENST00000441968.1_Missense_Mutation_p.L612P|CCDC108_ENST00000410037.1_Missense_Mutation_p.L547P NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 612 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGAATCATGAGAGCCCCGTT 0.597000 11 21 0 0 0.000673 0 0 IL22RA1 58985 broad.mit.edu 37 1 24454650 24454650 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:24454650G>A ENST00000270800.1 - 5 689 c.651C>T c.(649-651)tgC>tgT p.C217C NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 217 Fibronectin type-III 2. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TCTTCACTCGGCACATGTAGG 0.547000 21 39 0 0 0.001882 0 0 RASAL1 8437 broad.mit.edu 37 12 113552632 113552632 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:113552632G>A ENST00000546530.1 - 13 1439 c.1154C>T c.(1153-1155)cCc>cTc p.P385L RASAL1_ENST00000261729.5_Missense_Mutation_p.P385L|RASAL1_ENST00000548055.1_Missense_Mutation_p.P385L|RASAL1_ENST00000446861.3_Missense_Mutation_p.P385L|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 385 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CATCTTGCAGGGATCCAGCTC 0.642000 150 101 0 0 0.003610 0 0 COL19A1 1310 broad.mit.edu 37 6 70871825 70871825 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:70871825C>T ENST00000322773.4 + 35 2428 c.2326C>T c.(2326-2328)Cca>Tca p.P776S COL19A1_ENST00000393344.1_Missense_Mutation_p.P398S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 776 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TCCAGGTGCTCCAGGCCCGAC 0.408000 36 58 0 0 0.002222 0 0 GPR116 221395 broad.mit.edu 37 6 46826032 46826032 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:46826032C>T ENST00000283296.7 - 17 3896 c.3608G>A c.(3607-3609)gGa>gAa p.G1203E GPR116_ENST00000265417.7_Missense_Mutation_p.G1203E|GPR116_ENST00000545669.1_Missense_Mutation_p.G632E|GPR116_ENST00000456426.2_Missense_Mutation_p.G1061E|GPR116_ENST00000362015.4_Missense_Mutation_p.G1203E NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1203 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TGGCTTGTCTCCAATGGAAGG 0.527000 49 128 0 0 0.003610 0 0 TBC1D2 55357 broad.mit.edu 37 9 101014073 101014073 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:101014073C>T ENST00000375066.5 - 2 596 c.505G>A c.(505-507)Gag>Aag p.E169K TBC1D2_ENST00000375064.1_Missense_Mutation_p.E169K|TBC1D2_ENST00000342112.5_Intron NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 169 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GTACCTAGCTCGAGGTGCAGG 0.647000 37 70 0 0 0.001287 0 0 TOP2B 7155 broad.mit.edu 37 3 25675377 25675377 + Silent SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:25675377T>C ENST00000435706.2 - 8 1167 c.966A>G c.(964-966)aaA>aaG p.K322K TOP2B_ENST00000264331.4_Silent_p.K327K Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 327 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GCTGGAATCCTTTTTCACTCA 0.348000 3 67 0 0 0.004672 0 0 QRICH2 84074 broad.mit.edu 37 17 74288492 74288492 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:74288492G>A ENST00000262765.5 - 4 1997 c.1818C>T c.(1816-1818)gtC>gtT p.V606V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 606 Gln-rich. protein binding p.V606V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTCCAGGTTGGACCAAACCAT 0.537000 25 31 0 0 0.003330 0 0 CD72 971 broad.mit.edu 37 9 35611857 35611857 + Nonsense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:35611857C>T ENST00000396757.1 - 8 1058 c.894G>A c.(892-894)tgG>tgA p.W298* CD72_ENST00000259633.4_Nonsense_Mutation_p.W298*|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 298 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity p.W298C(1) large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGAGGCCAGTCCAATATGAAT 0.433000 OREG0019172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 39 0 0 0.000958 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534887 96534887 + Missense_Mutation SNP G G A rs149072229 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:96534887G>A ENST00000371321.3 + 2 323 c.241G>A c.(241-243)Gaa>Aaa p.E81K CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 81 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GCATGGATATGAAGTGGTGAA 0.468000 66 78 0 0 0.003610 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73175171 73175171 + Missense_Mutation SNP C C G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:73175171C>G ENST00000286657.4 - 15 2158 c.2122G>C c.(2122-2124)Gat>Cat p.D708H NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 708 Cys-rich. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGGAATTATCTCCTCCACAG 0.428000 9 24 0 0 0.004482 0 0 TSGA10 80705 broad.mit.edu 37 2 99651824 99651824 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:99651824G>A ENST00000393483.3 - 17 2327 c.1483C>T c.(1483-1485)Cag>Tag p.Q495* TSGA10_ENST00000355053.4_Nonsense_Mutation_p.Q495*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.Q495*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.Q495* NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 495 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TGAACCTTCTGAAGCTCCTCT 0.348000 7 47 0 0 0.003080 0 0 PCLO 27445 broad.mit.edu 37 7 82580453 82580453 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:82580453C>T ENST00000423517.2 - 6 9788 c.9451G>A c.(9451-9453)Gaa>Aaa p.E3151K PCLO_ENST00000333891.8_Missense_Mutation_p.E3151K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3082 Gln-rich. 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 ATGTCCGTTTCAGATGCACCT 0.423000 25 24 0 0 0.003954 0 0 CSMD3 114788 broad.mit.edu 37 8 114031326 114031326 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:114031326G>A ENST00000297405.5 - 6 1244 c.1000C>T c.(1000-1002)Cga>Tga p.R334* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R334*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R334*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R294* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 334 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCACGGTATCGATGATTGCTG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 98 52 0 0 0.003610 0 0 RUFY4 285180 broad.mit.edu 37 2 218940382 218940382 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:218940382G>A ENST00000374155.3 + 8 1637 c.1227G>A c.(1225-1227)gaG>gaA p.E409E RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000344321.7_Silent_p.E389E|RUFY4_ENST00000441828.2_3'UTR Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 389 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTACCGTGGAGAATCCACAAG 0.592000 20 67 0 0 0.000958 0 0 THBS4 7060 broad.mit.edu 37 5 79373993 79373993 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:79373993G>A ENST00000350881.2 + 17 2398 c.2208G>A c.(2206-2208)gtG>gtA p.V736V CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.V645V|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 736 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACCAGACCGTGGTCCTGGATC 0.587000 15 9 0 0 0.003163 0 0 ZNF446 55663 broad.mit.edu 37 19 58989497 58989497 + Silent SNP C C T rs151261644 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:58989497C>T ENST00000596341.1 + 4 2796 c.576C>T c.(574-576)aaC>aaT p.N192N ZNF446_ENST00000335841.4_Silent_p.N192N|ZNF446_ENST00000594369.1_Silent_p.N192N Q9NWS9 ZN446_HUMAN zinc finger protein 446 192 N -> H (in dbSNP:rs893185). viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTGAGGGGAACCATGGACACC 0.607000 19 38 0 0 0.002780 0 0 COL9A3 1299 broad.mit.edu 37 20 61460844 61460844 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:61460844G>A ENST00000343916.3 + 20 1049 c.1046G>A c.(1045-1047)gGa>gAa p.G349E NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 349 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) GGCGAGAAGGGAGAACGGGTA 0.692000 27 67 0 0 0.002096 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 91 0 0 0.000602 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190618689 190618689 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:190618689G>A ENST00000519810.1 - 6 1258 c.916C>T c.(916-918)Ctg>Ttg p.L306L OSGEPL1_ENST00000522700.1_Silent_p.L306L|OSGEPL1_ENST00000264151.5_Silent_p.L306L Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 306 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) TTACAAAACAGAATAGCCCGA 0.378000 17 21 0 0 0.004007 0 0 PCK1 5105 broad.mit.edu 37 20 56140854 56140854 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:56140854G>A ENST00000319441.4 + 10 2027 c.1863G>A c.(1861-1863)caG>caA p.Q621Q PCK1_ENST00000543666.1_Silent_p.Q304Q NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 621 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GAATAAGCCAGATGTAATCAG 0.473000 17 22 0 0 0.004990 0 0 EXOC6 54536 broad.mit.edu 37 10 94700496 94700496 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:94700496C>T ENST00000371552.4 + 13 1239 c.1210C>T c.(1210-1212)Cca>Tca p.P404S EXOC6_ENST00000371547.4_Missense_Mutation_p.P425S|EXOC6_ENST00000443748.2_Missense_Mutation_p.P306S|EXOC6_ENST00000260762.6_Missense_Mutation_p.P409S NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 409 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TTATGGTTTTCCAGTGAACCG 0.303000 102 77 0 0 0.003610 0 0 RNF183 138065 broad.mit.edu 37 9 116060144 116060144 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:116060144G>A ENST00000478815.1 - 1 1901 c.321C>T c.(319-321)cgC>cgT p.R107R RNF183_ENST00000416588.2_Silent_p.R107R|RNF183_ENST00000297894.5_Silent_p.R107R|RNF183_ENST00000441031.3_Silent_p.R107R Q96D59 RN183_HUMAN ring finger protein 183 107 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 GCAGGAAGTAGCGGCTCTTGG 0.672000 34 58 0 0 0.003755 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392573 22392573 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:22392573C>T ENST00000390440.2 + 0 171 CAGGAATGTTCGTGCAGGAAA 0.443000 27 12 0 0 0.005443 0 0 ZNF679 168417 broad.mit.edu 37 7 63727142 63727142 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:63727142G>A ENST00000421025.1 + 5 1400 c.1131G>A c.(1129-1131)gaG>gaA p.E377E ZNF679_ENST00000255746.4_Silent_p.E377E NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATACTGGAGAGGAACCCTACA 0.388000 3 7 0 0 0.000248 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911399 135911399 + Missense_Mutation SNP G G C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:135911399G>C ENST00000264158.8 + 19 2285 c.2242G>C c.(2242-2244)Gct>Cct p.A748P RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A748P|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A704P NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 748 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) GCCAATTCCTGCTAGAAGGCA 0.428000 3 40 0 0 0.000248 0 0 TMEM2 23670 broad.mit.edu 37 9 74364964 74364964 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:74364964G>A ENST00000377044.4 - 2 865 c.326C>T c.(325-327)cCa>cTa p.P109L TMEM2_ENST00000377066.5_Missense_Mutation_p.P109L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 109 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CTTACCATCTGGAGCATATTT 0.299000 15 25 0 0 0.006122 0 0 IQSEC3 440073 broad.mit.edu 37 12 266807 266807 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:266807A>G ENST00000538872.1 + 7 2508 c.2390A>G c.(2389-2391)aAc>aGc p.N797S IQSEC3_ENST00000382841.2_Missense_Mutation_p.N494S|IQSEC3_ENST00000326261.4_Missense_Mutation_p.N797S Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 797 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TACAGCCCCAACATCAAGCCT 0.587000 30 83 0 0 0.001706 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101572687 101572687 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:101572687C>T ENST00000310954.6 - 13 2336 c.2050G>A c.(2050-2052)Gga>Aga p.G684R NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 684 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ATTGCAAATCCATTGAAGAAC 0.308000 30 16 0 0 0.001271 0 0 ABCB11 8647 broad.mit.edu 37 2 169788943 169788943 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:169788943G>A ENST00000263817.6 - 24 3281 c.3157C>T c.(3157-3159)Caa>Taa p.Q1053* NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1053 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TCCAGCAGTTGAAAAAAGCGT 0.433000 7 12 0 0 0.003080 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110439318 110439318 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:110439318G>A ENST00000378402.5 + 25 3037 c.2933G>A c.(2932-2934)gGa>gAa p.G978E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 978 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) ACACGAGAGGGAACCTGTGCT 0.527000 HNSCC(38;0.096) 91 68 0 0 0.003610 0 0 PSG8 440533 broad.mit.edu 37 19 43262198 43262198 + Missense_Mutation SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:43262198G>T ENST00000404209.4 - 3 761 c.665C>A c.(664-666)cCa>cAa p.P222Q PSG8_ENST00000406636.3_Missense_Mutation_p.P100Q|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.P222Q|PSG8_ENST00000600709.1_5'UTR NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 222 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGCACTCACTGGGTTCCGTAT 0.507000 111 235 8.58103e-55 2.06313e-54 0.003610 1 0 TNR 7143 broad.mit.edu 37 1 175365882 175365882 + Nonsense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:175365882C>T ENST00000367674.1 - 5 1746 c.1038G>A c.(1036-1038)tgG>tgA p.W346* TNR_ENST00000263525.2_Nonsense_Mutation_p.W346* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 346 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCGGCCCGTCCCATTCCAGCT 0.607000 84 100 0 0 0.003610 0 0 CYP3A43 64816 broad.mit.edu 37 7 99453298 99453298 + Missense_Mutation SNP C C T rs140807333 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:99453298C>T ENST00000354829.2 + 8 858 c.755C>T c.(754-756)tCc>tTc p.S252F CYP3A43_ENST00000417625.1_Missense_Mutation_p.S142F|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.S252F|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.S252F|CYP3A43_ENST00000415413.1_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 252 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TTAAAAAATTCCATTGAAAGG 0.323000 11 45 0 0 0.000978 0 0 IL36RN 26525 broad.mit.edu 37 2 113819797 113819797 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:113819797G>A ENST00000393200.2 + 4 373 c.212G>A c.(211-213)gGg>gAg p.G71E IL36RN_ENST00000346807.3_Missense_Mutation_p.G71E NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 71 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CTGTCATGTGGGGTGGGGCAG 0.622000 40 70 0 0 0.002852 0 0 AOX1 316 broad.mit.edu 37 2 201464374 201464374 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:201464374G>A ENST00000374700.2 + 5 582 c.341G>A c.(340-342)tGt>tAt p.C114Y NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 114 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGCACCCAGTGTGGCTTCTGC 0.537000 14 55 0 0 0.004990 0 0 SPICE1 152185 broad.mit.edu 37 3 113186999 113186999 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:113186999C>T ENST00000295872.4 - 10 1401 c.1142G>A c.(1141-1143)cGg>cAg p.R381Q NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 381 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TTTAAGGTACCGAACCAGGCG 0.473000 25 78 0 0 0.001061 0 0 LDB1 8861 broad.mit.edu 37 10 103871231 103871231 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:103871231G>A ENST00000425280.1 - 2 430 c.88C>T c.(88-90)Ccc>Tcc p.P30S LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR NM_001113407.1 NP_001106878.1 Q86U70 LDB1_HUMAN LIM domain binding 1 30 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) TGGAAGGGGGGAAAGGCGTTG 0.572000 60 67 0 0 0.003610 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715647 18715647 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:18715647G>A ENST00000433979.1 + 26 3594 c.3478G>A c.(3478-3480)Gaa>Aaa p.E1160K PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1160K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1201K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1160 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GAAAATAAAGGAAAGTCTGGA 0.373000 9 11 0 0 0.004482 0 0 DUOX1 53905 broad.mit.edu 37 15 45433532 45433532 + Silent SNP C C A rs141112574 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:45433532C>A ENST00000321429.4 + 15 2015 c.1608C>A c.(1606-1608)acC>acA p.T536T DUOX1_ENST00000561166.1_Silent_p.T182T|DUOX1_ENST00000389037.3_Silent_p.T536T NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 536 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GAAATACCACCCTGCAGGACG 0.527000 36 37 6.05902e-23 1.44721e-22 0.003755 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928921 32928921 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:32928921G>A ENST00000361627.3 + 12 2669 c.1947G>A c.(1945-1947)ttG>ttA p.L649L ARHGAP11A_ENST00000565905.1_Silent_p.L460L|ARHGAP11A_ENST00000543522.1_Silent_p.L460L NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 649 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CTAATGATTTGACTATAGTAG 0.343000 17 10 0 0 0.004007 0 0 TNS3 64759 broad.mit.edu 37 7 47479085 47479085 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:47479085C>T ENST00000398879.1 - 6 516 c.150_splice c.e6+1 p.L50_splice TNS3_ENST00000458317.2_Splice_Site_p.L50_splice|TNS3_ENST00000442536.2_Splice_Site_p.L50_splice|TNS3_ENST00000355730.3_Splice_Site_p.L50_splice|TNS3_ENST00000311160.9_Splice_Site_p.L50_splice Q68CZ2 TENS3_HUMAN tensin 3 50 Phosphatase tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CACCGCTCACCAGGTAGTTGT 0.602000 25 16 0 0 0.005443 0 0 PPM1L 151742 broad.mit.edu 37 3 160474483 160474483 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:160474483G>A ENST00000498165.1 + 1 488 c.387G>A c.(385-387)ggG>ggA p.G129G PPM1L_ENST00000497343.1_Silent_p.G129G NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 129 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCTTCGACGGGCACGGGGGAG 0.562000 19 50 0 0 0.001523 0 0 TAB1 10454 broad.mit.edu 37 22 39815629 39815629 + Missense_Mutation SNP T T G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:39815629T>G ENST00000216160.6 + 7 832 c.770T>G c.(769-771)cTt>cGt p.L257R TAB1_ENST00000331454.3_Missense_Mutation_p.L257R NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 257 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GACATTGACCTTCTCAGGTAG 0.557000 40 92 0 0 0.001287 0 0 MDM4 4194 broad.mit.edu 37 1 204501329 204501329 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:204501329G>A ENST00000367182.3 + 5 460 c.298G>A c.(298-300)Gat>Aat p.D100N MDM4_ENST00000367183.3_Intron|MDM4_ENST00000367180.1_Missense_Mutation_p.D100N|MDM4_ENST00000454264.2_Missense_Mutation_p.D100N|MDM4_ENST00000391947.2_Missense_Mutation_p.D100N|MDM4_ENST00000507825.2_Missense_Mutation_p.D100N|MDM4_ENST00000463049.1_3'UTR NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 100 SWIB. apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) CCCTCTCTATGATATGCTAAG 0.368000 A """GBM, bladder, retinoblastoma""" 26 87 0 0 0.001061 0 0 VCAM1 7412 broad.mit.edu 37 1 101186071 101186071 + Missense_Mutation SNP A A C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:101186071A>C ENST00000294728.2 + 2 205 c.104A>C c.(103-105)tAt>tCt p.Y35S VCAM1_ENST00000370119.4_Missense_Mutation_p.Y35S|VCAM1_ENST00000347652.2_Missense_Mutation_p.Y35S|VCAM1_ENST00000370115.1_Missense_Mutation_p.Y35S NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 35 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GAATCTAGATATCTTGCTCAG 0.428000 35 56 0 0 0.002522 0 0 PLAT 5327 broad.mit.edu 37 8 42048910 42048910 + Missense_Mutation SNP C C G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:42048910C>G ENST00000220809.4 - 3 351 c.95G>C c.(94-96)aGa>aCa p.R32T PLAT_ENST00000429089.2_Missense_Mutation_p.R32T|PLAT_ENST00000352041.3_Missense_Mutation_p.R32T|PLAT_ENST00000270189.6_Missense_Mutation_p.R32T|PLAT_ENST00000524009.1_Missense_Mutation_p.R32T|PLAT_ENST00000429710.2_Missense_Mutation_p.R32T|PLAT_ENST00000519510.1_Missense_Mutation_p.R32T NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 32 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCTGGCTCCTCTTCTGAATCG 0.592000 37 107 0 0 0.001485 0 0 WDR17 116966 broad.mit.edu 37 4 177056383 177056383 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:177056383C>T ENST00000393643.2 + 8 1475 c.1223C>T c.(1222-1224)tCc>tTc p.S408F WDR17_ENST00000280190.4_Missense_Mutation_p.S432F|WDR17_ENST00000507824.2_Missense_Mutation_p.S415F|WDR17_ENST00000508596.1_Missense_Mutation_p.S408F NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 432 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GTGTACACATCCCCGGGTAAT 0.348000 24 49 0 0 0.004656 0 0 SNHG12 85028 broad.mit.edu 37 1 28905159 28905159 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:28905159G>A ENST00000488745.1 - 0 1258 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA AAAATGACCGGGGTCCTTGCC 0.408000 22 46 0 0 0.001523 0 0 DYSF 8291 broad.mit.edu 37 2 71825792 71825792 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:71825792G>A ENST00000258104.3 + 33 3896 c.3619G>A c.(3619-3621)Gag>Aag p.E1207K DYSF_ENST00000410041.1_Missense_Mutation_p.E1225K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.E1208K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1207K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1238K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1194K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1224K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1225K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1239K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1208K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1224K NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1207 C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATCTTCTACGAGATCGAGAT 0.567000 19 58 0 0 0.000958 0 0 PTGFR 5737 broad.mit.edu 37 1 78959094 78959094 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:78959094C>T ENST00000370756.3 + 2 903 c.666C>T c.(664-666)atC>atT p.I222I PTGFR_ENST00000370757.3_Silent_p.I222I|PTGFR_ENST00000370758.1_Silent_p.I222I NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 222 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.I222I(2) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GCAATGCAATCACAGGAATTA 0.383000 35 66 0 0 0.005524 0 0 ATP13A4 84239 broad.mit.edu 37 3 193132506 193132506 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:193132506G>A ENST00000342695.4 - 26 3198 c.2876C>T c.(2875-2877)cCt>cTt p.P959L ATP13A4_ENST00000392443.3_Missense_Mutation_p.P940L|ATP13A4_ENST00000400270.2_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 959 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) AGGTCTGAAAGGCACCAGCTT 0.428000 13 32 0 0 0.001855 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800994 185800994 + Missense_Mutation SNP G G C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:185800994G>C ENST00000302277.6 + 4 1465 c.871G>C c.(871-873)Gtt>Ctt p.V291L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 291 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CAAAGAAACTGTTCAAACTCA 0.353000 8 18 0 0 0.004482 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460463 1460463 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:1460463G>A ENST00000359801.3 - 2 369 c.333C>T c.(331-333)tcC>tcT p.S111S SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000381630.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 111 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGATATAGATGGAATAATCAC 0.448000 29 73 0 0 0.001271 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751304 162751304 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:162751304G>A ENST00000375514.5 + 11 1540 c.1253G>A c.(1252-1254)cGa>cAa p.R418Q SLC4A10_ENST00000421911.1_Missense_Mutation_p.R437Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R407Q|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E408K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R407Q|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R437Q NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 437 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CCAAGCATTCGAATAGAGCCT 0.353000 11 38 0 0 0.002450 0 0 SERPINB3 6317 broad.mit.edu 37 18 61326656 61326656 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:61326656C>T ENST00000283752.5 - 4 471 c.328G>A c.(328-330)Gaa>Aaa p.E110K SERPINB3_ENST00000332821.8_Missense_Mutation_p.E110K|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 110 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TACGTTTTTTCTCCGAAGAGC 0.413000 30 65 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179615440 179615440 + Missense_Mutation SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:179615440G>T ENST00000360870.5 - 46 11909 c.11687C>A c.(11686-11688)gCt>gAt p.A3896D TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9720 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) TCTTTCACTAGCTATTTCTTC 0.353000 8 14 0.00307968 0.00723725 0.003080 1 0 FAM86DP 692099 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 5 105 0 0 0.001168 0 0 CX3CR1 1524 broad.mit.edu 37 3 39323131 39323131 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:39323131G>A ENST00000358309.3 - 1 95 c.56C>T c.(55-57)tCt>tTt p.S19F NM_001171174.1 NP_001164645.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 0 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) agaagccagagagctcttcct 0.552000 6 29 0 0 0.001984 0 0 MYH15 22989 broad.mit.edu 37 3 108129629 108129629 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:108129629G>A ENST00000273353.3 - 32 4412 c.4356C>T c.(4354-4356)gcC>gcT p.A1452A NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1452 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GGTCCAGCCTGGCTGCTGCAG 0.632000 9 30 0 0 0.000443 0 0 ARSA 410 broad.mit.edu 37 22 51065636 51065636 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:51065636C>T ENST00000547307.1 - 2 822 c.417G>A c.(415-417)caG>caA p.Q139Q ARSA_ENST00000547805.1_Silent_p.Q139Q|ARSA_ENST00000453344.2_Silent_p.Q55Q|ARSA_ENST00000395621.3_Silent_p.Q141Q|ARSA_ENST00000356098.5_Silent_p.Q141Q|ARSA_ENST00000216124.5_Silent_p.Q141Q|ARSA_ENST00000395619.3_Silent_p.Q141Q P15289 ARSA_HUMAN arylsulfatase A 139 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) GATGGAAGCCCTGATGGGGGG 0.672000 9 44 0 0 0.004482 0 0 DNAH9 1770 broad.mit.edu 37 17 11593556 11593556 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:11593556G>A ENST00000262442.3 + 20 4485 c.4417G>A c.(4417-4419)Gag>Aag p.E1473K DNAH9_ENST00000454412.2_Missense_Mutation_p.E1473K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1473 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGGTTCTGGAGGATAATCA 0.532000 28 61 0 0 0.001061 0 0 SCD 6319 broad.mit.edu 37 10 102107993 102107993 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:102107993C>T ENST00000370355.2 + 2 581 c.200C>T c.(199-201)cCc>cTc p.P67L NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 67 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) GGCCCAAGCCCCAAGGTTGAA 0.463000 61 113 0 0 0.003610 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457978 20457978 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:20457978G>A ENST00000426804.1 - 1 3808 c.3324C>T c.(3322-3324)ctC>ctT p.L1108L NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TGGTCACAGGGAGCCAGCTGA 0.602000 4 24 0 0 0.000602 0 0 RB1 5925 broad.mit.edu 37 13 48955550 48955550 + Nonsense_Mutation SNP C C T rs121913304 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:48955550C>T ENST00000267163.4 + 17 1804 c.1666C>T c.(1666-1668)Cga>Tga p.R556* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 556 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.R556*(5)|p.C553fs*53(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGTGAACATCGAATCATGGA 0.333000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 38 12 0 0 0.001287 0 0 SP7 121340 broad.mit.edu 37 12 53721980 53721980 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:53721980C>T ENST00000536324.2 - 3 1529 c.1246G>A c.(1246-1248)Gag>Aag p.E416K SP7_ENST00000303846.3_Missense_Mutation_p.E416K|SP7_ENST00000537210.2_Missense_Mutation_p.E398K NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GGGGCTTTCTCTGGGGTTGCT 0.677000 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 34 0 0 0.003163 0 0 ITGB1 3688 broad.mit.edu 37 10 33217122 33217122 + Missense_Mutation SNP C C A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:33217122C>A ENST00000396033.2 - 5 582 c.447G>T c.(445-447)atG>atT p.M149I ITGB1_ENST00000423113.1_Missense_Mutation_p.M149I|ITGB1_ENST00000374956.4_Missense_Mutation_p.M149I|ITGB1_ENST00000302278.3_Missense_Mutation_p.M149I|ITGB1_ENST00000484088.1_Intron NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 149 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) AAGACAGGTCCATAAGGTAGT 0.373000 64 28 4.60343e-24 1.10135e-23 0.003610 1 0 ADH1C 126 broad.mit.edu 37 4 100260761 100260761 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:100260761C>T ENST00000515683.1 - 0 1427 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CAGGTCAAATCCTTCATTTAT 0.393000 18 25 0 0 0.004990 0 0 DMXL1 1657 broad.mit.edu 37 5 118485077 118485077 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:118485077C>T ENST00000311085.8 + 18 3635 c.3555C>T c.(3553-3555)ctC>ctT p.L1185L DMXL1_ENST00000539542.1_Silent_p.L1185L NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1185 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) CATTTCCTCTCTGGGAGAGTA 0.438000 55 29 0 0 0.003610 0 0 SMAD3 4088 broad.mit.edu 37 15 67473595 67473595 + Silent SNP C C G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:67473595C>G ENST00000327367.4 + 6 985 c.675C>G c.(673-675)acC>acG p.T225T SMAD3_ENST00000540846.2_Silent_p.T120T|SMAD3_ENST00000537194.2_Silent_p.T30T|SMAD3_ENST00000439724.3_Silent_p.T181T NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 225 Linker. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) AGCCAGTTACCTACTGCGAGC 0.607000 6 33 0 0 0.001984 0 0 APOB 338 broad.mit.edu 37 2 21235191 21235191 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:21235191C>T ENST00000233242.1 - 26 4676 c.4549G>A c.(4549-4551)Gag>Aag p.E1517K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1517 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGGTTGGACTCTCCATTGAGC 0.498000 92 322 0 0 0.003610 0 0 UNC13C 440279 broad.mit.edu 37 15 54305645 54305645 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:54305645G>A ENST00000545554.1 + 1 545 c.545G>A c.(544-546)cGa>cAa p.R182Q UNC13C_ENST00000537900.1_Missense_Mutation_p.R182Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.R182Q Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 182 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R182Q(1) 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) GGAGCTTTACGAAAACTGAGA 0.458000 72 29 0 0 0.003610 0 0 DNAH11 8701 broad.mit.edu 37 7 21775406 21775406 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:21775406A>G ENST00000328843.6 + 47 7641 c.7610A>G c.(7609-7611)gAt>gGt p.D2537G DNAH11_ENST00000409508.3_Missense_Mutation_p.D2530G Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2537 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTCTCTGAGGATTACATAGTA 0.418000 Kartagener syndrome 88 62 0 0 0.003610 0 0 ABO 28 broad.mit.edu 37 9 136131067 136131067 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:136131067C>T ENST00000453660.2 - 0 1061 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GGGTTCCGGACCGCCTGGTGG 0.672000 8 8 0 0 0.004482 0 0 RALBP1 10928 broad.mit.edu 37 18 9524620 9524620 + Missense_Mutation SNP T T A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:9524620T>A ENST00000019317.4 + 5 1305 c.1082T>A c.(1081-1083)tTc>tAc p.F361Y RALBP1_ENST00000383432.3_Missense_Mutation_p.F361Y Q15311 RBP1_HUMAN ralA binding protein 1 361 Rho-GAP. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 TATGTGTTTTTCACACATGTG 0.383000 10 42 0 0 0.001368 0 0 COL11A2 1302 broad.mit.edu 37 6 33139493 33139493 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:33139493G>A ENST00000341947.2 - 42 3374 c.3147C>T c.(3145-3147)gtC>gtT p.V1049V COL11A2_ENST00000395197.1_Silent_p.V989V|COL11A2_ENST00000357486.1_Silent_p.V1028V|COL11A2_ENST00000361917.1_Silent_p.V942V|COL11A2_ENST00000374708.4_Silent_p.V963V|COL11A2_ENST00000374712.1_Silent_p.V968V|COL11A2_ENST00000374714.1_Silent_p.V1023V|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Silent_p.V1002V NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1049 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACTCACTGGGACACCTTTCT 0.642000 11 24 0 0 0.001855 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227239624 227239624 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:227239624C>T ENST00000366766.2 - 22 3909 c.2967G>A c.(2965-2967)cgG>cgA p.R989R CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366764.2_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 968 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GAGATGTGGACCGTGACTGGA 0.448000 23 100 0 0 0.004656 0 0 ABCB11 8647 broad.mit.edu 37 2 169783734 169783734 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:169783734G>A ENST00000263817.6 - 26 3674 c.3550C>T c.(3550-3552)Ccc>Tcc p.P1184S NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1184 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTTTCCATGGGAATTTCTTTG 0.453000 29 106 0 0 0.001512 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254505 30254505 + Missense_Mutation SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:30254505A>T ENST00000361644.2 + 5 1201 c.464A>T c.(463-465)aAa>aTa p.K155I MAGEB3_ENST00000378986.1_Missense_Mutation_p.K155I NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 155 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 ATCCTTAAAAAAGCTTCTTTC 0.373000 39 8 0 0 0.005524 0 0 ABLIM1 3983 broad.mit.edu 37 10 116251619 116251619 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:116251619G>A ENST00000533213.2 - 7 1034 c.733C>T c.(733-735)Cac>Tac p.H245Y ABLIM1_ENST00000277895.5_Missense_Mutation_p.H305Y|ABLIM1_ENST00000369253.2_5'UTR|ABLIM1_ENST00000392952.3_5'UTR|ABLIM1_ENST00000369266.3_5'UTR|ABLIM1_ENST00000369252.4_Missense_Mutation_p.H245Y O14639 ABLM1_HUMAN actin binding LIM protein 1 305 LIM zinc-binding 3. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CAGCTGGGGTGGTAATGTTTG 0.453000 78 124 0 0 0.003610 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164383 150164383 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:150164383C>T ENST00000307271.3 + 2 1171 c.597C>T c.(595-597)ccC>ccT p.P199P NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 199 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ACGGAGGACCCTATCATGTGA 0.418000 37 57 0 0 0.005524 0 0 LILRB1 10859 broad.mit.edu 37 19 55143159 55143159 + Silent SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:55143159A>G ENST00000396331.1 + 5 636 c.279A>G c.(277-279)gcA>gcG p.A93A LILRB1_ENST00000418536.2_Silent_p.A93A|LILRB1_ENST00000427581.2_Silent_p.A129A|LILRB1_ENST00000396327.3_Silent_p.A93A|LILRB1_ENST00000448689.1_Silent_p.A93A|LILRB1_ENST00000434867.2_Silent_p.A93A|LILRB1_ENST00000396332.4_Silent_p.A93A|LILRB1_ENST00000396315.1_Silent_p.A93A|LILRB1_ENST00000324602.7_Silent_p.A93A|LILRB1_ENST00000396321.2_Silent_p.A93A|LILRB1_ENST00000396317.1_Silent_p.A93A NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 93 Ig-like C2-type 1. A -> T (in dbSNP:rs12460501). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGGAACATGCAGGGCGGTATC 0.552000 HNSCC(37;0.09) 32 67 0 0 0.002445 0 0 PCSK5 5125 broad.mit.edu 37 9 78953217 78953217 + Missense_Mutation SNP G G A rs145485084 by1000genomes TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:78953217G>A ENST00000545128.1 + 34 5277 c.4739G>A c.(4738-4740)cGg>cAg p.R1580Q NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 751 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CAGGGCCCACGGCCCACAGAC 0.527000 18 22 0 0 0.001216 0 0 ZNF71 58491 broad.mit.edu 37 19 57133977 57133977 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:57133977G>A ENST00000328070.6 + 3 1556 c.1322G>A c.(1321-1323)gGc>gAc p.G441D NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 441 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) TACAGGTGCGGCCAGTGCGGG 0.647000 13 35 0 0 0.001368 0 0 XPO5 57510 broad.mit.edu 37 6 43494440 43494440 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:43494440G>A ENST00000265351.7 - 27 3176 c.2966C>T c.(2965-2967)cCc>cTc p.P989L POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 989 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) ATCTGCTGGGGGAGCACTACT 0.493000 11 33 0 0 0.001368 0 0 CD58 965 broad.mit.edu 37 1 117064556 117064556 + Silent SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:117064556A>T ENST00000457047.2 - 4 731 c.678T>A c.(676-678)atT>atA p.I226I CD58_ENST00000369487.3_Silent_p.I226I|CD58_ENST00000369489.5_Silent_p.I226I NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 226 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) TACATGTTGTAATTACTGCTA 0.294000 7 11 0 0 0.003080 0 0 BTN1A1 696 broad.mit.edu 37 6 26505398 26505398 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:26505398C>T ENST00000244513.6 + 3 739 c.673C>T c.(673-675)Ctt>Ttt p.L225F NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 225 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GAATCTCCTTCTTGGCCAGGA 0.468000 50 77 0 0 0.003610 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465275 37465275 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:37465275G>A ENST00000381792.2 - 16 2091 c.1951C>T c.(1951-1953)Cac>Tac p.H651Y TMPRSS6_ENST00000406856.1_Missense_Mutation_p.H651Y|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.H660Y|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.H651Y Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 660 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TCCTCTTCGTGGTACGGGTGC 0.692000 7 26 0 0 0.003080 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25366777 25366777 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:25366777G>A ENST00000302874.4 + 12 1419 c.1395G>A c.(1393-1395)aaG>aaA p.K465K NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 465 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) CTACATCTAAGAGAGCTAACA 0.393000 21 62 0 0 0.002780 0 0 MZF1 7593 broad.mit.edu 37 19 59081864 59081864 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:59081864G>A ENST00000215057.2 - 3 987 c.427C>T c.(427-429)Cta>Tta p.L143L AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Silent_p.L143L|MZF1_ENST00000594234.1_Silent_p.L143L|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Silent_p.L143L NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 143 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.L143V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) TTCTCTGATAGGACCTCCTGG 0.602000 15 26 0 0 0.004007 0 0 ALOX12 239 broad.mit.edu 37 17 6903691 6903691 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:6903691G>A ENST00000251535.6 + 7 897 c.844G>A c.(844-846)Gat>Aat p.D282N AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 282 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CATCCTTCTGGATGGAATTCC 0.542000 40 148 0 0 0.001485 0 0 OR14C36 127066 broad.mit.edu 37 1 248512748 248512748 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:248512748C>T ENST00000317861.1 + 1 672 c.672C>T c.(670-672)ctC>ctT p.L224L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L224L(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CGACCGTGCTCGGGTTTCCAA 0.498000 28 104 0 0 0.004656 0 0 ZNF536 9745 broad.mit.edu 37 19 31039935 31039935 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:31039935G>A ENST00000355537.3 + 4 3556 c.3409G>A c.(3409-3411)Gga>Aga p.G1137R NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGAGCCTGATGGAAAGGCCCA 0.517000 32 31 0 0 0.002445 0 0 SLIT1 6585 broad.mit.edu 37 10 98816191 98816191 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:98816191G>A ENST00000266058.4 - 13 1433 c.1188C>T c.(1186-1188)atC>atT p.I396I ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.I396I NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 396 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) CATCGGGCCGGATGCAGTTGA 0.597000 59 156 0 0 0.003610 0 0 ZNF835 90485 broad.mit.edu 37 19 57176307 57176307 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:57176307C>T ENST00000537055.2 - 2 491 c.260G>A c.(259-261)gGg>gAg p.G87E NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CGGGCTCTCCCCAGGCGCGCT 0.647000 19 44 0 0 0.001216 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072033 34072033 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:34072033G>A ENST00000254466.6 - 6 2510 c.2483C>T c.(2482-2484)tCc>tTc p.S828F GAS2L2_ENST00000587565.1_Missense_Mutation_p.S812F NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 828 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATCCACCCGGGATGCCTCCCC 0.637000 43 62 0 0 0.003610 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562300 140562300 + Silent SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:140562300T>C ENST00000361016.2 + 1 1321 c.166T>C c.(166-168)Ttg>Ctg p.L56L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 56 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGGTTGGGGTTGACAGAGAT 0.527000 111 42 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179590745 179590745 + Silent SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:179590745A>G ENST00000589042.1 - 70 20528 c.20304T>C c.(20302-20304)ccT>ccC p.P6768P TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P6451P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.P5524P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6451 Ig-like 49. 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) TTTCTACTATAGGAGGGAAGC 0.383000 11 35 0 0 0.001368 0 0 ELTD1 64123 broad.mit.edu 37 1 79470895 79470895 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:79470895G>A ENST00000370742.3 - 2 95 c.32C>T c.(31-33)tCc>tTc p.S11F NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 11 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.S11F(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CAACAAAGTGGAAAAAACCAC 0.323000 8 17 0 0 0.003080 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674142 3674142 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:3674142G>A ENST00000344754.4 - 13 3459 c.3460C>T c.(3460-3462)Cct>Tct p.P1154S SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1154S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1154 Ig-like C2-type 11. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCCCGACCAGGGGGGCCCACA 0.642000 32 51 0 0 0.002445 0 0 SEC16B 89866 broad.mit.edu 37 1 177899741 177899741 + Missense_Mutation SNP A A C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:177899741A>C ENST00000308284.6 - 25 3139 c.3050T>G c.(3049-3051)cTt>cGt p.L1017R RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 1017 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TGGAGGAAGAAGAACACCAGG 0.542000 25 25 0 0 0.004656 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736775 12736775 + Missense_Mutation SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:12736775A>T ENST00000380682.1 + 16 4336 c.3830A>T c.(3829-3831)gAa>gTa p.E1277V NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1277 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 ACCTTTAAGGAACTGCACCCA 0.542000 107 27 0 0 0.003610 0 0 TRBV6-6 28601 broad.mit.edu 37 7 142161996 142161996 + RNA SNP G G A rs55663062 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:142161996G>A ENST00000390371.3 - 0 322 GCCTGAGCGGGAAATACTCTG 0.502000 170 170 0 0 0.003610 0 0 BCAS2 10286 broad.mit.edu 37 1 115123994 115123994 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:115123994C>T ENST00000369541.3 - 2 159 c.112G>A c.(112-114)Gag>Aag p.E38K BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 38 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CGAGTTTCCTCCTCCACCAGC 0.493000 93 136 0 0 0.003610 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227239625 227239625 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:227239625C>T ENST00000366766.2 - 22 3908 c.2966G>A c.(2965-2967)cGg>cAg p.R989Q CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366764.2_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 968 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AGATGTGGACCGTGACTGGAT 0.448000 23 102 0 0 0.005443 0 0 C1orf94 84970 broad.mit.edu 37 1 34663513 34663513 + Splice_Site SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:34663513G>A ENST00000488417.1 + 2 1128 c.1009_splice c.e2+1 p.M336_splice C1orf94_ENST00000373374.3_Splice_Site_p.M146_splice NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 146 protein binding p.M146I(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) ACCACTTGATGGGTGAGTGGG 0.572000 20 27 0 0 0.001882 0 0 KIAA1009 22832 broad.mit.edu 37 6 84894991 84894991 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:84894991G>A ENST00000403245.3 - 13 1691 c.1577C>T c.(1576-1578)tCt>tTt p.S526F KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S450F NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 526 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTCAAGAGTAGAAAACATCTT 0.388000 54 59 0 0 0.003610 0 0 HEATR5B 54497 broad.mit.edu 37 2 37234429 37234429 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:37234429G>A ENST00000233099.5 - 29 4636 c.4541C>T c.(4540-4542)cCt>cTt p.P1514L HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1514L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1514 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) AATAGTTTCAGGGGTATAAAA 0.383000 21 68 0 0 0.003330 0 0 OR7E24 26648 broad.mit.edu 37 19 9362583 9362583 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:9362583G>A ENST00000456448.1 + 1 978 c.864G>A c.(862-864)aaG>aaA p.K288K NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CCCCCAGGAAGAGTATGGTGG 0.522000 14 32 0 0 0.003163 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674141 3674141 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:3674141G>A ENST00000344754.4 - 13 3460 c.3461C>T c.(3460-3462)cCt>cTt p.P1154L SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1154L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1154 Ig-like C2-type 11. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGCCCGACCAGGGGGGCCCAC 0.647000 32 52 0 0 0.002445 0 0 COL27A1 85301 broad.mit.edu 37 9 117029817 117029817 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:117029817C>T ENST00000356083.3 + 34 3872 c.3481C>T c.(3481-3483)Cct>Tct p.P1161S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1161 Collagen-like 9.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ACCGGGCCTTCCTGGGGAAGC 0.562000 37 61 0 0 0.001706 0 0 EEF1B2 1933 broad.mit.edu 37 2 207024728 207024728 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:207024728C>T ENST00000392222.2 + 1 400 c.25C>T c.(25-27)Cct>Tct p.P9S EEF1B2_ENST00000236957.5_Missense_Mutation_p.P9S|EEF1B2_ENST00000392221.1_Missense_Mutation_p.P9S NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 9 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCTGAAAAGCCCTGCCGGCCT 0.632000 17 94 0 0 0.000958 0 0 AOC3 8639 broad.mit.edu 37 17 41003363 41003363 + Translation_Start_Site SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:41003363G>A ENST00000308423.2 + 1 163 c.3G>A c.(1-3)atG>atA p.M1I NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 1 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GTGGGAAAATGAACCAGAAGA 0.567000 37 114 0 0 0.001951 0 0 PNPLA7 375775 broad.mit.edu 37 9 140438180 140438180 + Nonsense_Mutation SNP T T A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:140438180T>A ENST00000406427.1 - 5 697 c.361A>T c.(361-363)Aag>Tag p.K121* PNPLA7_ENST00000277531.4_Nonsense_Mutation_p.K96* NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 96 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CAGTACCTCTTGGCCAAAGAC 0.632000 34 63 0 0 0.003271 0 0 CLDN15 24146 broad.mit.edu 37 7 100876137 100876137 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:100876137G>A ENST00000401528.1 - 4 1566 c.441C>T c.(439-441)ttC>ttT p.F147F CLDN15_ENST00000308344.5_Silent_p.F147F NM_001185080.1 NP_001172009.1 P56746 CLD15_HUMAN claudin 15 147 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) ACAAGGGGTCGAAGAAGTCCC 0.682000 19 52 0 0 0.001523 0 0 AKAP11 11215 broad.mit.edu 37 13 42891698 42891698 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:42891698G>A ENST00000025301.2 + 12 5614 c.5439G>A c.(5437-5439)acG>acA p.T1813T NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1813 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGCTAATTACGAATATTGACA 0.383000 67 15 0 0 0.003610 0 0 USP6NL 9712 broad.mit.edu 37 10 11505127 11505127 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:11505127G>A ENST00000379237.1 - 15 2194 c.1800C>T c.(1798-1800)tcC>tcT p.S600S USP6NL_ENST00000277575.5_Silent_p.S617S NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 600 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TAAACTTGTTGGATACTTTTG 0.547000 19 14 0 0 0.006122 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474579 99474579 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:99474579G>A ENST00000316368.2 - 1 101 c.78C>T c.(76-78)ttC>ttT p.F26F NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AGGAGAAAAGGAAAAGGTGGG 0.502000 59 60 0 0 0.003610 0 0 CACNA1D 776 broad.mit.edu 37 3 53845206 53845206 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:53845206G>A ENST00000288139.3 + 49 6437 c.6319G>A c.(6319-6321)Gaa>Aaa p.E2107K CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2063K|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E2087K NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 2087 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) AACAAAACACGAAATCGCTGA 0.552000 23 67 0 0 0.002299 0 0 DAK 26007 broad.mit.edu 37 11 61113332 61113332 + Missense_Mutation SNP G G A rs34035740 byFrequency TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:61113332G>A ENST00000394900.3 + 17 1718 c.1489G>A c.(1489-1491)Gat>Aat p.D497N NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 497 DhaL. D -> G (in Ref. 2; BAB14722). glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 TGTCCAGCTGGATTCTCTGTG 0.582000 33 40 0 0 0.002836 0 0 NBEA 26960 broad.mit.edu 37 13 36046604 36046604 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:36046604C>T ENST00000540320.1 + 41 7050 c.6516C>T c.(6514-6516)tcC>tcT p.S2172S NBEA_ENST00000400445.3_Silent_p.S2172S|NBEA_ENST00000379939.2_Silent_p.S2169S|NBEA_ENST00000310336.4_Silent_p.S2172S Q8NFP9 NBEA_HUMAN neurobeachin 2172 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGACTCTCTCCATCACCACGA 0.537000 95 22 0 0 0.003610 0 0 NBEA 26960 broad.mit.edu 37 13 36046603 36046603 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:36046603C>T ENST00000540320.1 + 41 7049 c.6515C>T c.(6514-6516)tCc>tTc p.S2172F NBEA_ENST00000400445.3_Missense_Mutation_p.S2172F|NBEA_ENST00000379939.2_Missense_Mutation_p.S2169F|NBEA_ENST00000310336.4_Missense_Mutation_p.S2172F Q8NFP9 NBEA_HUMAN neurobeachin 2172 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGGACTCTCTCCATCACCACG 0.537000 95 22 0 0 0.003610 0 0 TNNI1 7135 broad.mit.edu 37 1 201379534 201379534 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:201379534C>T ENST00000361379.4 - 8 578 c.486G>A c.(484-486)agG>agA p.R162R TNNI1_ENST00000367312.1_Silent_p.R162R|TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Silent_p.R162R NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 162 muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 CCACGTTCTTCCTCCAGTCAC 0.587000 36 90 0 0 0.001706 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124232228 124232228 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:124232228C>T ENST00000330342.3 + 14 1928 c.1680C>T c.(1678-1680)atC>atT p.I560I NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 560 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) TTTTAGGAATCATTCATATGA 0.313000 29 21 0 0 0.005443 0 0 SDK1 221935 broad.mit.edu 37 7 4247870 4247870 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:4247870G>A ENST00000404826.2 + 37 5493 c.5354G>A c.(5353-5355)gGa>gAa p.G1785E SDK1_ENST00000389531.3_Missense_Mutation_p.G1765E NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1785 Fibronectin type-III 11. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AACGCCGCCGGAGATGGACCT 0.597000 17 56 0 0 0.001523 0 0 SAMD12 401474 broad.mit.edu 37 8 119391905 119391905 + Silent SNP G G A rs150265138 byFrequency TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:119391905G>A ENST00000409003.4 - 4 485 c.357C>T c.(355-357)ctC>ctT p.L119L AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000314727.4_Silent_p.L119L NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 119 SAM. endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) CCATTCGCTCGAGCTTTTTGT 0.463000 41 158 0 0 0.003610 0 0 NLRP5 126206 broad.mit.edu 37 19 56539808 56539808 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:56539808C>T ENST00000390649.3 + 7 2209 c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 737 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCGGAAAATTCGGGTGGATGT 0.498000 100 195 0 0 0.003610 0 0 GSTO1 9446 broad.mit.edu 37 10 106025864 106025864 + Missense_Mutation SNP C C T rs116993524 byFrequency TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:106025864C>T ENST00000539281.1 + 5 760 c.404C>T c.(403-405)aCc>aTc p.T135I GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369713.5_Missense_Mutation_p.T163I|GSTO1_ENST00000369710.4_Missense_Mutation_p.T130I NM_001191003.1 NP_001177932.1 P78417 GSTO1_HUMAN glutathione S-transferase omega 1 163 GST C-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) AAGAAGACGACCTTCTTTGGT 0.363000 31 102 0 0 0.002836 0 0 TXNL1 9352 broad.mit.edu 37 18 54291641 54291641 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:54291641G>A ENST00000217515.6 - 3 451 c.247C>T c.(247-249)Cga>Tga p.R83* TXNL1_ENST00000590954.1_Nonsense_Mutation_p.R83*|TXNL1_ENST00000540155.1_5'UTR NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 83 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) ACTTTGTTTCGAAAAAACAAA 0.373000 52 106 0 0 0.003610 0 0 MS4A10 341116 broad.mit.edu 37 11 60565890 60565890 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:60565890C>T ENST00000308287.1 + 7 721 c.625C>T c.(625-627)Ccg>Tcg p.P209S NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 209 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 ATGCCTTGTTCCGAATACACC 0.547000 33 22 0 0 0.002445 0 0 HLCS 3141 broad.mit.edu 37 21 38139568 38139568 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:38139568C>T ENST00000399120.1 - 8 2700 c.1470G>A c.(1468-1470)ccG>ccA p.P490P HLCS_ENST00000336648.3_Silent_p.P490P NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 490 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding p.P490P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CCATTTCCTGCGGTGTCTGAA 0.547000 26 65 0 0 0.004656 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820352 179820352 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:179820352G>A ENST00000367612.3 - 4 568 c.181C>T c.(181-183)Cca>Tca p.P61S NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 61 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 GCACTTTCTGGACCTTCTGTC 0.438000 33 148 0 0 0.004878 0 0 CLDN14 23562 broad.mit.edu 37 21 37833622 37833622 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:37833622G>A ENST00000399137.1 - 3 1238 c.372C>T c.(370-372)ctC>ctT p.L124L AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.L124L|CLDN14_ENST00000342108.2_Silent_p.L124L|CLDN14_ENST00000399135.1_Silent_p.L124L|CLDN14_ENST00000399139.1_Silent_p.L124L NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 124 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 CCAGGATGAAGAGGGTGCCGC 0.657000 46 78 0 0 0.003610 0 0 GPANK1 7918 broad.mit.edu 37 6 31632160 31632160 + Missense_Mutation SNP C C A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:31632160C>A ENST00000375906.1 - 3 780 c.96G>T c.(94-96)gaG>gaT p.E32D GPANK1_ENST00000375893.2_Missense_Mutation_p.E32D|GPANK1_ENST00000375896.4_Missense_Mutation_p.E32D|GPANK1_ENST00000375895.2_Missense_Mutation_p.E32D|GPANK1_ENST00000375900.4_Missense_Mutation_p.E32D NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 32 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 CCAGGGTGGACTCTGGCTTCT 0.622000 13 602 3.27435e-08 7.7826e-08 0.002450 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110519966 110519966 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:110519966G>A ENST00000378402.5 + 69 11173 c.11069G>A c.(11068-11070)gGc>gAc p.G3690D NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3690 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) GACATAGATGGCTCCTTTCTG 0.423000 HNSCC(38;0.096) 56 36 0 0 0.003610 0 0 EFCAB13 124989 broad.mit.edu 37 17 45412682 45412682 + Missense_Mutation SNP T T A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:45412682T>A ENST00000331493.2 + 5 562 c.151T>A c.(151-153)Tca>Aca p.S51T EFCAB13_ENST00000517484.1_Missense_Mutation_p.S51T|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000520802.1_Intron|ITGB3_ENST00000560629.1_3'UTR NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 GAAGGAAATTTCACCGGAAAT 0.303000 24 61 0 0 0.005443 0 0 GLI2 2736 broad.mit.edu 37 2 121745856 121745856 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:121745856C>T ENST00000452319.1 + 14 2426 c.2366C>T c.(2365-2367)tCg>tTg p.S789L GLI2_ENST00000361492.4_Missense_Mutation_p.S789L|GLI2_ENST00000314490.11_Missense_Mutation_p.S461L P10070 GLI2_HUMAN GLI family zinc finger 2 789 Ser-rich. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCGCGGCTGTCGGAGCTGTCC 0.716000 7 3 0 0 0.004482 0 0 XPO5 57510 broad.mit.edu 37 6 43494441 43494441 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:43494441G>A ENST00000265351.7 - 27 3175 c.2965C>T c.(2965-2967)Ccc>Tcc p.P989S POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 989 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TCTGCTGGGGGAGCACTACTG 0.493000 10 34 0 0 0.000978 0 0 KRT71 112802 broad.mit.edu 37 12 52939362 52939362 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:52939362G>A ENST00000267119.5 - 8 1416 c.1347C>T c.(1345-1347)tcC>tcT p.S449S NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 449 Tail. 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) TGCTGACAGGGGAGGGAAATT 0.428000 25 50 0 0 0.005443 0 0 NPY2R 4887 broad.mit.edu 37 4 156135355 156135355 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:156135355C>T ENST00000329476.3 + 2 753 c.264C>T c.(262-264)ttC>ttT p.F88F NPY2R_ENST00000506608.1_Silent_p.F88F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 88 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCAACTTTTTCATTGCCAATC 0.473000 24 43 0 0 0.002780 0 0 PLCB1 23236 broad.mit.edu 37 20 8689378 8689378 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:8689378C>T ENST00000378641.3 + 12 1704 c.1229C>T c.(1228-1230)tCg>tTg p.S410L PLCB1_ENST00000378637.2_Missense_Mutation_p.S410L|PLCB1_ENST00000338037.6_Missense_Mutation_p.S410L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 410 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ATTCTCCTTTCGTTTGAGAAC 0.358000 12 34 0 0 0.002450 0 0 DSP 1832 broad.mit.edu 37 6 7580622 7580622 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:7580622G>A ENST00000379802.3 + 23 4540 c.4199G>A c.(4198-4200)cGa>cAa p.R1400Q DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1400 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AATCTCACCCGAGAAAACAGG 0.493000 26 71 0 0 0.003954 0 0 SIL1 64374 broad.mit.edu 37 5 138356955 138356955 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:138356955G>A ENST00000394817.2 - 7 811 c.672C>T c.(670-672)tcC>tcT p.S224S CTB-46B19.2_ENST00000512875.2_RNA|CTB-46B19.2_ENST00000510110.1_RNA|SIL1_ENST00000265195.5_Silent_p.S224S|SIL1_ENST00000509534.1_Silent_p.S231S NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor 224 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GACCACCAAAGGAAAGCAGGT 0.527000 Marinesco-Sjgren syndrome 23 16 0 0 0.003954 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25366778 25366778 + Silent SNP A A C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:25366778A>C ENST00000302874.4 + 12 1420 c.1396A>C c.(1396-1398)Aga>Cga p.R466R NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 466 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) TACATCTAAGAGAGCTAACAA 0.388000 20 63 0 0 0.002299 0 0 SMARCC2 6601 broad.mit.edu 37 12 56565503 56565503 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:56565503G>A ENST00000394023.3 - 21 2250 c.2145C>T c.(2143-2145)gtC>gtT p.V715V SMARCC2_ENST00000267064.4_Silent_p.V684V|SMARCC2_ENST00000550164.1_Silent_p.V715V|SMARCC2_ENST00000347471.4_Silent_p.V715V|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 684 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CTCGGGGATCGACGACAGAGG 0.582000 51 84 0 0 0.003610 0 0 SMC6 79677 broad.mit.edu 37 2 17906555 17906555 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:17906555C>T ENST00000448223.2 - 9 964 c.695G>A c.(694-696)aGa>aAa p.R232K SMC6_ENST00000351948.4_Missense_Mutation_p.R232K|SMC6_ENST00000381272.4_Missense_Mutation_p.R258K|SMC6_ENST00000402989.1_Missense_Mutation_p.R232K NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 232 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTCCTTTGTTCTTTCTTTCGT 0.303000 4 30 0 0 0.001168 0 0 GRB7 2886 broad.mit.edu 37 17 37899515 37899515 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:37899515G>A ENST00000309156.4 + 5 803 c.546G>A c.(544-546)cgG>cgA p.R182R GRB7_ENST00000394204.1_Silent_p.R182R|GRB7_ENST00000394209.2_Silent_p.R182R|GRB7_ENST00000309185.3_Silent_p.R182R|GRB7_ENST00000445327.2_Silent_p.R205R|GRB7_ENST00000394211.3_Silent_p.R182R|GRB7_ENST00000578702.1_3'UTR NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 182 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCGTCTTCCGGAAAAACTTCG 0.607000 19 61 0 0 0.000958 0 0 SEC31B 25956 broad.mit.edu 37 10 102249077 102249077 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:102249077G>A ENST00000370345.3 - 23 3200 c.3103C>T c.(3103-3105)Ccc>Tcc p.P1035S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1035 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGCTGTGAGGGAAGAATCCCT 0.542000 42 47 0 0 0.002522 0 0 CGNL1 84952 broad.mit.edu 37 15 57810601 57810601 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:57810601G>A ENST00000281282.5 + 10 2699 c.2621G>A c.(2620-2622)cGa>cAa p.R874Q NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 874 myosin complex|tight junction motor activity p.R874Q(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGAGAAATACGACAGTTAGAG 0.478000 7 9 0 0 0.004482 0 0 PCK1 5105 broad.mit.edu 37 20 56138731 56138731 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:56138731G>A ENST00000319441.4 + 6 1073 c.909G>A c.(907-909)tgG>tgA p.W303* PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Nonsense_Mutation_p.W171* NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 303 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCCCCGGGTGGAAGGTTGAGT 0.557000 47 74 0 0 0.003610 0 0 EFCAB14 9813 broad.mit.edu 37 1 47181973 47181973 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:47181973G>A ENST00000371933.3 - 2 1304 c.328C>T c.(328-330)Cga>Tga p.R110* EFCAB14_ENST00000544071.1_Nonsense_Mutation_p.R110* NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 TTACTTGTTCGAAATTTTTCC 0.443000 9 25 0 0 0.004482 0 0 DPY19L3 147991 broad.mit.edu 37 19 32971434 32971434 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:32971434C>T ENST00000342179.5 + 18 2175 c.1960C>T c.(1960-1962)Cgg>Tgg p.R654W DPY19L3_ENST00000586987.1_Missense_Mutation_p.R654W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R654W NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 654 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) CTGCCGACTCCGGGACCTGCT 0.607000 30 44 0 0 0.002096 0 0 BCMO1 53630 broad.mit.edu 37 16 81303860 81303860 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:81303860G>A ENST00000258168.2 + 7 1401 c.940G>A c.(940-942)Gaa>Aaa p.E314K BCMO1_ENST00000425577.2_Missense_Mutation_p.E245K NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 314 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 CAACGCCTACGAAGAGGACGG 0.522000 53 29 0 0 0.003610 0 0 ATP8A1 10396 broad.mit.edu 37 4 42414957 42414957 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:42414957C>T ENST00000381668.5 - 37 3702 c.3471G>A c.(3469-3471)acG>acA p.T1157T ATP8A1_ENST00000264449.10_Silent_p.T1142T NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1157 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.T1157T(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GCCTCTGTTTCGTGGTATCAT 0.458000 10 18 0 0 0.000978 0 0 EPOR 2057 broad.mit.edu 37 19 11489125 11489125 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:11489125G>A ENST00000222139.6 - 8 1166 c.1062C>T c.(1060-1062)ccC>ccT p.P354P EPOR_ENST00000592375.2_3'UTR NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 354 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCTCCAGCAGGGGGCCCTCAT 0.657000 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 48 0 0 0.002096 0 0 KDM5B 10765 broad.mit.edu 37 1 202731858 202731858 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:202731858G>A ENST00000367265.3 - 7 2051 c.887C>T c.(886-888)cCc>cTc p.P296L KDM5B_ENST00000367264.2_Missense_Mutation_p.P332L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 296 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TCGACTCTTGGGCTTTTCCTT 0.388000 42 211 0 0 0.003610 0 0 DMTF1 9988 broad.mit.edu 37 7 86817419 86817419 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:86817419G>A ENST00000414194.2 + 13 2207 c.415G>A c.(415-417)Ggt>Agt p.G139S DMTF1_ENST00000432937.2_Missense_Mutation_p.G317S|DMTF1_ENST00000331242.7_Missense_Mutation_p.G405S|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000394703.5_Missense_Mutation_p.G405S Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 405 Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) CTTAATAAAAGGTCTTAAACA 0.433000 17 25 0 0 0.004990 0 0 RPL11 6135 broad.mit.edu 37 1 24020315 24020315 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:24020315C>T ENST00000374550.3 + 3 221 c.176C>T c.(175-177)tCc>tTc p.S59F RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 59 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) ACTGTCAGATCCTTTGGCATC 0.493000 17 43 0 0 0.001216 0 0 MAB21L3 126868 broad.mit.edu 37 1 116666948 116666948 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:116666948G>A ENST00000369500.3 + 4 716 c.451G>A c.(451-453)Gaa>Aaa p.E151K MAB21L3_ENST00000464946.1_3'UTR NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 151 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 GAAGCTGGTGGAAAATGCAGT 0.488000 48 48 0 0 0.003610 0 0 LRIT3 345193 broad.mit.edu 37 4 110791065 110791065 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:110791065G>A ENST00000327908.3 + 4 1375 c.611G>A c.(610-612)tGg>tAg p.W204* LRIT3_ENST00000379920.3_Nonsense_Mutation_p.W342*|LRIT3_ENST00000409621.2_Nonsense_Mutation_p.W204*|LRIT3_ENST00000594814.1_Nonsense_Mutation_p.W387* Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 342 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TCATATCTTTGGtcctcttcc 0.473000 71 84 0 0 0.003610 0 0 SALL3 27164 broad.mit.edu 37 18 76754898 76754898 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:76754898G>A ENST00000536229.3 + 1 3217 c.2508G>A c.(2506-2508)agG>agA p.R836R SALL3_ENST00000537592.2_Silent_p.R969R|SALL3_ENST00000575389.2_Silent_p.R969R Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1041 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCCTGAGCAGGGAGCGGGGTA 0.662000 13 14 0 0 0.001368 0 0 NOL3 8996 broad.mit.edu 37 16 67208605 67208605 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:67208605G>A ENST00000432069.2 + 5 949 c.377G>A c.(376-378)gGg>gAg p.G126E NOL3_ENST00000268605.7_Missense_Mutation_p.G126E|NOL3_ENST00000568146.1_Missense_Mutation_p.G123S|NOL3_ENST00000564053.1_Missense_Mutation_p.G188E NM_001276309.1|NM_001276312.1|NM_001276319.1 NP_001263238.1|NP_001263241.1|NP_001263248.1 O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 126 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) ACATGCCCCGGGTTGCCCAGA 0.711000 12 18 0 0 0.001368 0 0 LUC7L 55692 broad.mit.edu 37 16 239275 239275 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:239275G>A ENST00000293872.8 - 10 1148 c.1038C>T c.(1036-1038)ccC>ccT p.P346P LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR NM_201412.1 NP_958815.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 346 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) TCCAGTCCGGGGGCCCTCGCT 0.637000 25 105 0 0 0.003954 0 0 SLC44A4 80736 broad.mit.edu 37 6 31839334 31839334 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:31839334C>T ENST00000544672.1 - 8 602 c.306G>A c.(304-306)ctG>ctA p.L102L SLC44A4_ENST00000375562.4_Silent_p.L136L|SLC44A4_ENST00000229729.6_Silent_p.L178L NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 178 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AGCAGCGCCCCAGAGCTGGAA 0.657000 89 167 0 0 0.003610 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868370 31868370 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:31868370G>A ENST00000375527.2 - 2 888 c.713C>T c.(712-714)tCc>tTc p.S238F C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 238 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GCCACCCACGGAGCCTCCAAT 0.662000 126 332 0 0 0.003610 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919961 51919961 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:51919961T>C ENST00000353836.5 - 3 886 c.665A>G c.(664-666)aAg>aGg p.K222R SIGLEC10_ENST00000439889.2_Missense_Mutation_p.K164R|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.K164R|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.K222R|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.K222R|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.K222R|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.K164R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.K174R NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 222 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCTCACACCCTTTCTGGAGAA 0.637000 31 47 0 0 0.002445 0 0 CAP2 10486 broad.mit.edu 37 6 17463268 17463268 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:17463268C>T ENST00000229922.2 + 4 796 c.264C>T c.(262-264)ttC>ttT p.F88F CAP2_ENST00000378990.2_Intron|CAP2_ENST00000465994.1_Silent_p.F88F|CAP2_ENST00000489374.1_Silent_p.F88F|CAP2_ENST00000493172.1_Intron NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 88 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AGCGGGCTTTCCTTCTGATGG 0.498000 26 77 0 0 0.001512 0 0 KRT36 8689 broad.mit.edu 37 17 39646004 39646004 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:39646004C>T ENST00000328119.6 - 1 112 c.113G>A c.(112-114)aGg>aAg p.R38K KRT36_ENST00000393986.2_Intron NM_003771.4 NP_003762.1 O76013 KRT36_HUMAN keratin 36 38 Head. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) ACTGGGGACCCTGCAGGAGCC 0.627000 20 46 0 0 0.002299 0 0 HOMER2 9455 broad.mit.edu 37 15 83527872 83527872 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:83527872C>T ENST00000304231.8 - 5 628 c.436G>A c.(436-438)Ggg>Agg p.G146R HOMER2_ENST00000399166.2_Missense_Mutation_p.G135R|HOMER2_ENST00000426485.1_Missense_Mutation_p.G146R|HOMER2_ENST00000450735.2_Missense_Mutation_p.G135R NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 146 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 TCGTCCGTCCCGTTGACACTG 0.522000 153 53 0 0 0.003610 0 0 AP1B1 162 broad.mit.edu 37 22 29727844 29727844 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:29727844C>T ENST00000357586.2 - 18 2557 c.2371G>A c.(2371-2373)Gtg>Atg p.V791M AP1B1_ENST00000317368.7_Missense_Mutation_p.V764M|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Missense_Mutation_p.V784M|AP1B1_ENST00000405198.1_Missense_Mutation_p.V791M|AP1B1_ENST00000432560.2_Missense_Mutation_p.V784M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V784M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V784M NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 791 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAGATCTCCACTGTCTGGTTG 0.672000 24 64 0 0 0.002780 0 0 CPNE3 8895 broad.mit.edu 37 8 87567208 87567208 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:87567208C>T ENST00000521271.1 + 15 1412 c.1250C>T c.(1249-1251)gCt>gTt p.A417V CPNE3_ENST00000198765.4_Missense_Mutation_p.A417V NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 417 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 CAGCAGACAGCTTCTGTAAGT 0.438000 28 91 0 0 0.001512 0 0 TMEM52 339456 broad.mit.edu 37 1 1849693 1849693 + Splice_Site SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:1849693G>A ENST00000378602.3 - 1 543 c.304_splice c.e1+1 p.T101_splice TMEM52_ENST00000310991.3_Splice_Site_p.T116_splice Q8NDY8 TMM52_HUMAN transmembrane protein 52 116 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCACTCACAGGTCACAGTGC 0.637000 23 57 0 0 0.002780 0 0 MUC16 94025 broad.mit.edu 37 19 9059329 9059329 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:9059329G>A ENST00000397910.4 - 3 28320 c.28117C>T c.(28117-28119)Cct>Tct p.P9373S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9375 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCCCAGAAGGACCTGTTTTG 0.507000 65 112 0 0 0.003610 0 0 ZNF586 54807 broad.mit.edu 37 19 58288009 58288009 + Silent SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:58288009G>T ENST00000391702.3 + 3 373 c.6G>T c.(4-6)ctG>ctT p.L2L ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Silent_p.L45L|ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000598183.1_Intron NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACGTGATGCTGGAGACCTTGA 0.473000 6 296 0.00307968 0.00723725 0.003080 1 0 HDLBP 3069 broad.mit.edu 37 2 242189270 242189270 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:242189270G>A ENST00000391975.1 - 12 1725 c.1498C>T c.(1498-1500)Ctt>Ttt p.L500F HDLBP_ENST00000391976.2_Missense_Mutation_p.L500F|HDLBP_ENST00000310931.4_Missense_Mutation_p.L500F|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Missense_Mutation_p.L467F NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 500 KH 5. 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) CGAGATGCAAGCTCCAGCAGC 0.612000 11 40 0 0 0.000673 0 0 KIAA1109 84162 broad.mit.edu 37 4 123201052 123201052 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:123201052C>T ENST00000264501.4 + 51 9087 c.8714C>T c.(8713-8715)cCt>cTt p.P2905L KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2905L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2905L Q2LD37 K1109_HUMAN KIAA1109 2905 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CCTCAGCACCCTGCCACCTTA 0.443000 19 78 0 0 0.006122 0 0 SRPR 6734 broad.mit.edu 37 11 126136502 126136502 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:126136502G>A ENST00000332118.6 - 6 863 c.709C>T c.(709-711)Cca>Tca p.P237S SRPR_ENST00000532259.1_Missense_Mutation_p.P209S NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 237 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTCTCCTTTGGAGCATCTGAC 0.498000 68 37 0 0 0.003610 0 0 VPS13D 55187 broad.mit.edu 37 1 12337829 12337829 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:12337829C>T ENST00000358136.3 + 19 4314 c.4184C>T c.(4183-4185)cCt>cTt p.P1395L VPS13D_ENST00000356315.4_Missense_Mutation_p.P1395L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1395 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCGGGGAGTCCTGAGTTGTTG 0.468000 40 50 0 0 0.001706 0 0 AOX1 316 broad.mit.edu 37 2 201460032 201460032 + Silent SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:201460032A>T ENST00000374700.2 + 3 382 c.141A>T c.(139-141)ggA>ggT p.G47G NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 47 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTGGAGGAGGAGGCTGTGGTG 0.423000 7 33 0 0 0.003080 0 0 RPRD2 23248 broad.mit.edu 37 1 150429863 150429863 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:150429863C>T ENST00000401000.4 + 7 957 c.892C>T c.(892-894)Cca>Tca p.P298S RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P324S|RPRD2_ENST00000539519.1_Missense_Mutation_p.P298S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 324 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AGTTCCTTCCCCAAGCATGGA 0.473000 115 124 0 0 0.003610 0 0 NPHP4 261734 broad.mit.edu 37 1 6007208 6007208 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:6007208G>A ENST00000378156.4 - 9 1340 c.1075C>T c.(1075-1077)Cag>Tag p.Q359* NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 359 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TACTCCAGCTGGAAGATGACC 0.572000 22 60 0 0 0.001523 0 0 FCHO2 115548 broad.mit.edu 37 5 72337118 72337118 + Splice_Site SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:72337118G>A ENST00000430046.2 + 11 1031 c.914_splice c.e11-1 p.V305_splice FCHO2_ENST00000512348.1_Splice_Site_p.V272_splice|FCHO2_ENST00000341845.6_Splice_Site_p.V305_splice NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 305 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GTTTTAATAGGGAATGTCCTG 0.249000 7 5 0 0 0.000443 0 0 ZAN 7455 broad.mit.edu 37 7 100390094 100390094 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:100390094C>T ENST00000542585.1 + 0 7925 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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) TTGCCAGGTCCTCAGTGGGTA 0.677000 41 43 0 0 0.001706 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10918750 10918750 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:10918750G>A ENST00000381661.3 + 11 987 c.878G>A c.(877-879)tGg>tAg p.W293* ATP6V1C2_ENST00000272238.4_Nonsense_Mutation_p.W339* NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 339 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TTCATTGCCTGGATCCACATC 0.617000 44 47 0 0 0.003610 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303507 151303507 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:151303507G>A ENST00000370323.4 - 4 902 c.586C>T c.(586-588)Ccc>Tcc p.P196S MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196S|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 196 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TGGCCAGTGGGATCCACTTCC 0.493000 38 12 0 0 0.005524 0 0 ATG2A 23130 broad.mit.edu 37 11 64677517 64677517 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:64677517G>A ENST00000421419.2 - 13 1972 c.1858C>T c.(1858-1860)Ctg>Ttg p.L620L ATG2A_ENST00000377264.3_Silent_p.L620L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 620 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CTCACCAGCAGGCCGGCTGGA 0.731000 15 6 0 0 0.004007 0 0 DNMBP 23268 broad.mit.edu 37 10 101643929 101643929 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:101643929G>A ENST00000342239.3 - 15 3999 c.3908C>T c.(3907-3909)tCc>tTc p.S1303F DNMBP_ENST00000324109.4_Missense_Mutation_p.S1279F|DNMBP_ENST00000543621.1_Missense_Mutation_p.S525F|DNMBP_ENST00000540316.1_Missense_Mutation_p.S215F Q6XZF7 DNMBP_HUMAN dynamin binding protein 1279 SH3 5. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGCCAGGAGGGAGGCCCGGAG 0.498000 50 87 0 0 0.003610 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043176 71043176 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:71043176T>C ENST00000272367.2 - 4 1413 c.1337A>G c.(1336-1338)aAg>aGg p.K446R CLEC4F_ENST00000426626.1_Missense_Mutation_p.K446R NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 446 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 ATGGAGGGTCTTCAGGCGACT 0.522000 38 47 0 0 0.002522 0 0 LHX8 431707 broad.mit.edu 37 1 75608881 75608881 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:75608881C>T ENST00000294638.5 + 6 1132 c.468C>T c.(466-468)gtC>gtT p.V156V LHX8_ENST00000356261.3_Silent_p.V146V NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 156 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AGGGGAATGTCTATCACTTGG 0.483000 18 39 0 0 0.001216 0 0 LGI4 163175 broad.mit.edu 37 19 35616179 35616179 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:35616179G>A ENST00000310123.3 - 9 2051 c.1532C>T c.(1531-1533)gCc>gTc p.A511V LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 511 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GCGTCTGCCGGCCATAGTGAT 0.632000 32 61 0 0 0.004289 0 0 FCGBP 8857 broad.mit.edu 37 19 40408578 40408578 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:40408578C>T ENST00000221347.6 - 8 4268 c.4261G>A c.(4261-4263)Gag>Aag p.E1421K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1421 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCACCACCTCCTCCCAGGAG 0.637000 28 68 0 0 0.003755 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591601 46591601 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:46591601C>T ENST00000398637.5 - 16 1959 c.e16-1 SLC38A1_ENST00000439706.1_Splice_Site|SLC38A1_ENST00000546893.1_Splice_Site|SLC38A1_ENST00000549049.1_Splice_Site|SLC38A1_ENST00000552197.1_Splice_Site NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) GATGTAACTCCTGTAAAATAA 0.348000 15 36 0 0 0.002450 0 0 FYN 2534 broad.mit.edu 37 6 112035566 112035566 + Missense_Mutation SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:112035566G>T ENST00000354650.3 - 5 934 c.328C>A c.(328-330)Caa>Aaa p.Q110K FYN_ENST00000368682.3_Missense_Mutation_p.Q110K|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.Q110K|FYN_ENST00000538466.1_Missense_Mutation_p.Q110K|FYN_ENST00000229471.4_Missense_Mutation_p.Q110K|FYN_ENST00000368667.2_Missense_Mutation_p.Q110K|FYN_ENST00000356013.2_Missense_Mutation_p.Q110K NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 110 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAATATTTGAAATTTTTCT 0.438000 19 12 1.15919e-05 2.74623e-05 0.001216 1 0 TMEM184C 55751 broad.mit.edu 37 4 148545004 148545004 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:148545004C>T ENST00000296582.3 + 2 717 c.143C>T c.(142-144)gCt>gTt p.A48V TMEM184C_ENST00000508208.1_Missense_Mutation_p.A48V NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 48 integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 CACACCAAGGCTTGGTTTATT 0.358000 13 55 0 0 0.002450 0 0 SEL1L2 80343 broad.mit.edu 37 20 13936761 13936761 + Silent SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:13936761T>C ENST00000284951.5 - 2 149 c.75A>G c.(73-75)gaA>gaG p.E25E SEL1L2_ENST00000378072.5_Silent_p.E25E|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 25 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TTTTATTATGTTCCTCTGCTT 0.234000 22 26 0 0 0.002780 0 0 MASP1 5648 broad.mit.edu 37 3 186954183 186954183 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:186954183G>A ENST00000296280.6 - 11 1701 c.1476C>T c.(1474-1476)atC>atT p.I492I MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Silent_p.I379I|MASP1_ENST00000337774.5_Intron NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 485 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTGCTGTGAGGATCCAGGACG 0.592000 24 50 0 0 0.002299 0 0 FCGBP 8857 broad.mit.edu 37 19 40408566 40408566 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:40408566C>T ENST00000221347.6 - 8 4280 c.4273G>A c.(4273-4275)Gac>Aac p.D1425N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1425 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGGGAGAGTCGGGCACCACC 0.622000 23 58 0 0 0.001512 0 0 TF 7018 broad.mit.edu 37 3 133476668 133476668 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:133476668G>A ENST00000402696.3 + 8 1411 c.926G>A c.(925-927)gGg>gAg p.G309E TF_ENST00000264998.3_Missense_Mutation_p.G182E NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 309 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TCTCCTCATGGGAAGGACCTG 0.448000 29 68 0 0 0.002096 0 0 CSMD2 114784 broad.mit.edu 37 1 34037262 34037262 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:34037262C>T ENST00000373381.4 - 51 8003 c.7827G>A c.(7825-7827)gaG>gaA p.E2609E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2611 Sushi 16. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GATACTGTGTCTCAAAGATAA 0.502000 26 70 0 0 0.001512 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881347 1881347 + Silent SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:1881347A>G ENST00000292577.7 - 2 652 c.219T>C c.(217-219)cgT>cgC p.R73R ABHD17A_ENST00000590661.1_Silent_p.R73R|ABHD17A_ENST00000250974.9_Silent_p.R73R NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A GGAAGTCGGCACGCTCCGTCA 0.716000 4 60 0 0 0.001168 0 0 SALL3 27164 broad.mit.edu 37 18 76752273 76752273 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:76752273C>T ENST00000575389.2 + 2 282 c.282C>T c.(280-282)ttC>ttT p.F94F SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.F94F Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGAGGACTTCCCCGAGCCTT 0.761000 11 15 0 0 0.002450 0 0 GDF2 2658 broad.mit.edu 37 10 48413677 48413677 + Missense_Mutation SNP T T A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:48413677T>A ENST00000249598.1 - 2 1350 c.1191A>T c.(1189-1191)aaA>aaT p.K397N NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 397 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TGGGGCTCAGTTTGGTGGGCA 0.587000 19 14 0 0 0.006122 0 0 CPED1 79974 broad.mit.edu 37 7 120906769 120906769 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:120906769C>T ENST00000310396.5 + 20 3007 c.2540C>T c.(2539-2541)cCc>cTc p.P847L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AGATCACGTCCCCTAGAGAAT 0.398000 13 52 0 0 0.001855 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325823 37325823 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:37325823C>T ENST00000262825.5 + 6 909 c.692C>T c.(691-693)cCa>cTa p.P231L CSF2RB_ENST00000536485.1_Missense_Mutation_p.P172L|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P231L|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P231L NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 231 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AAGTGGAGCCCAGAGGTTTGC 0.662000 11 32 0 0 0.001368 0 0 KIAA1199 57214 broad.mit.edu 37 15 81173276 81173276 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:81173276G>A ENST00000394685.3 + 6 835 c.416G>A c.(415-417)gGt>gAt p.G139D KIAA1199_ENST00000220244.3_Missense_Mutation_p.G139D|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G139D Q8WUJ3 K1199_HUMAN KIAA1199 139 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCTTACTATGGTCTGAAGTAC 0.498000 149 49 0 0 0.003610 0 0 ZNF334 55713 broad.mit.edu 37 20 45131707 45131707 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:45131707C>T ENST00000457685.2 - 6 1480 c.157G>A c.(157-159)Gaa>Aaa p.E53K ZNF334_ENST00000593880.1_Missense_Mutation_p.E114K|ZNF334_ENST00000347606.4_Missense_Mutation_p.E91K Q9HCZ1 ZN334_HUMAN zinc finger protein 334 91 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TCTTGGATTTCCTTGTTCTTC 0.338000 15 29 0 0 0.002450 0 0 TMCO2 127391 broad.mit.edu 37 1 40717248 40717248 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:40717248G>A ENST00000372766.3 + 2 624 c.531G>A c.(529-531)ggG>ggA p.G177G TMCO2_ENST00000468258.1_3'UTR NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 177 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 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;6.3e-18) CCACATCAGGGTTTACTTCCC 0.483000 29 54 0 0 0.001786 0 0 ZEB1 6935 broad.mit.edu 37 10 31784735 31784735 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:31784735C>T ENST00000446923.2 + 3 630 c.239C>T c.(238-240)cCt>cTt p.P80L ZEB1_ENST00000320985.10_Missense_Mutation_p.P96L|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P29L|ZEB1_ENST00000361642.5_Missense_Mutation_p.P97L|ZEB1_ENST00000560721.2_Intron NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 96 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) ATCCTGGGGCCTGAAGCTCAG 0.398000 37 24 0 0 0.003610 0 0 KLHL36 79786 broad.mit.edu 37 16 84691408 84691408 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:84691408C>T ENST00000564996.1 + 3 1136 c.995C>T c.(994-996)cCc>cTc p.P332L KLHL36_ENST00000258157.5_Missense_Mutation_p.P332L NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 332 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ACGCCGCTGCCCGCCCGGCGG 0.667000 13 10 0 0 0.001368 0 0 HERPUD2 64224 broad.mit.edu 37 7 35709926 35709926 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:35709926G>A ENST00000396081.1 - 3 1042 c.238C>T c.(238-240)Cat>Tat p.H80Y HERPUD2_ENST00000311350.3_Missense_Mutation_p.H80Y NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 80 Ubiquitin-like. response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TGAACCATATGATACTCATCT 0.363000 18 20 0 0 0.000958 0 0 OPN4 94233 broad.mit.edu 37 10 88417915 88417915 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:88417915G>A ENST00000372071.2 + 4 677 c.450G>A c.(448-450)ggG>ggA p.G150G OPN4_ENST00000241891.5_Silent_p.G139G NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 139 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 GGCTCTTTGGGGAGACAGGTA 0.557000 46 31 0 0 0.003214 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662524 662524 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:662524C>T ENST00000266383.5 + 14 1448 c.1435C>T c.(1435-1437)Ctg>Ttg p.L479L NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 479 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GCGGAAACTCCTGGCTCAGCC 0.627000 58 102 0 0 0.003610 0 0 SEC31B 25956 broad.mit.edu 37 10 102249076 102249076 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:102249076G>A ENST00000370345.3 - 23 3201 c.3104C>T c.(3103-3105)cCc>cTc p.P1035L NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1035 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGGCTGTGAGGGAAGAATCCC 0.537000 44 47 0 0 0.003610 0 0 ECM2 1842 broad.mit.edu 37 9 95277481 95277481 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:95277481G>A ENST00000344604.5 - 4 635 c.486C>T c.(484-486)tcC>tcT p.S162S CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 162 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 GTAGAGAATAGGAGACTAATG 0.328000 8 18 0 0 0.004482 0 0 MYH2 4620 broad.mit.edu 37 17 10428264 10428264 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:10428264C>T ENST00000245503.5 - 34 5165 c.4781G>A c.(4780-4782)aGa>aAa p.R1594K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1594K|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1594 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AATGTGGTTTCTCTTCAGCTG 0.468000 45 96 0 0 0.002852 0 0 TLE2 7089 broad.mit.edu 37 19 3009582 3009582 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:3009582G>A ENST00000262953.6 - 13 1393 c.1131C>T c.(1129-1131)tcC>tcT p.S377S TLE2_ENST00000447365.2_Intron|TLE2_ENST00000426948.2_Silent_p.S391S|TLE2_ENST00000443826.3_Silent_p.S255S|TLE2_ENST00000590536.1_Silent_p.S378S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Silent_p.S391S|TLE2_ENST00000455444.2_Silent_p.S255S NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 377 Pro/Ser-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) TGACCTGGGGGGACAGGTGGA 0.682000 20 31 0 0 0.002299 0 0 DNMBP 23268 broad.mit.edu 37 10 101646372 101646372 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:101646372C>T ENST00000342239.3 - 13 3466 c.3375G>A c.(3373-3375)cgG>cgA p.R1125R DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Silent_p.R1101R|DNMBP_ENST00000543621.1_Silent_p.R347R|DNMBP_ENST00000540316.1_Silent_p.R37R Q6XZF7 DNMBP_HUMAN dynamin binding protein 1101 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AGATGACAAGCCGCTCTGTCC 0.473000 61 76 0 0 0.003610 0 0 FOXK2 3607 broad.mit.edu 37 17 80545020 80545020 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:80545020C>T ENST00000335255.5 + 8 1832 c.1658C>T c.(1657-1659)cCg>cTg p.P553L NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 553 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CAGACCACCCCGGTCCAGACG 0.532000 52 52 0 0 0.003610 0 0 FCGBP 8857 broad.mit.edu 37 19 40408565 40408565 + Missense_Mutation SNP T T A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:40408565T>A ENST00000221347.6 - 8 4281 c.4274A>T c.(4273-4275)gAc>gTc p.D1425V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1425 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCAGGGAGAGTCGGGCACCAC 0.622000 23 56 0 0 0.001512 0 0 FETUB 26998 broad.mit.edu 37 3 186370148 186370148 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:186370148G>A ENST00000265029.3 + 7 978 c.877G>A c.(877-879)Gac>Aac p.D293N FETUB_ENST00000382136.3_Missense_Mutation_p.D256N|FETUB_ENST00000382134.3_Missense_Mutation_p.D228N|FETUB_ENST00000539949.1_Missense_Mutation_p.D145N|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.D293N|RP11-134F2.2_ENST00000428501.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 293 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCCCCCAACAGACTCCCCCTC 0.512000 43 109 0 0 0.003610 0 0 TROVE2 6738 broad.mit.edu 37 1 193038629 193038629 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:193038629C>T ENST00000367446.3 + 2 655 c.445C>T c.(445-447)Cgg>Tgg p.R149W TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.R149W|TROVE2_ENST00000367445.3_Missense_Mutation_p.R149W|TROVE2_ENST00000400968.2_Missense_Mutation_p.R149W|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.R149W|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.R149W NM_004600.5 NP_004591.2 P10155 RO60_HUMAN TROVE domain family, member 2 149 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 TCGTGCCCTCCGGAAGGCTAT 0.448000 33 109 0 0 0.004878 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69053171 69053171 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:69053171G>A ENST00000295381.3 + 11 2202 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E289K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E589K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E556K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E596K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E588K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 595 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GCTCAATGAAGAACTGGAGAA 0.468000 41 68 0 0 0.002222 0 0 SVOP 55530 broad.mit.edu 37 12 109306311 109306311 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:109306311C>T ENST00000299134.5 - 14 1450 c.1451G>A c.(1450-1452)aGt>aAt p.484_484insN NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 CCATCGGTCACTATTCCTGAG 0.617000 82 59 0 0 0.003610 0 0 PXDNL 137902 broad.mit.edu 37 8 52339266 52339266 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:52339266C>T ENST00000356297.4 - 13 1678 c.1578G>A c.(1576-1578)aaG>aaA p.K526K PXDNL_ENST00000543296.1_Silent_p.K526K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 526 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGTTTATATTCTTTCCAACCT 0.338000 12 32 0 0 0.001855 0 0 N4BP1 9683 broad.mit.edu 37 16 48587558 48587558 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:48587558A>G ENST00000262384.3 - 3 2148 c.1912T>C c.(1912-1914)Tct>Cct p.S638P NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 638 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) CCACGACAAGAAAAGAACTTT 0.343000 9 1 0 0 0.000673 0 0 GABRP 2568 broad.mit.edu 37 5 170224519 170224519 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:170224519G>A ENST00000518525.1 + 7 972 c.508G>A c.(508-510)Gac>Aac p.D170N GABRP_ENST00000265294.4_Missense_Mutation_p.D170N|GABRP_ENST00000519385.1_Missense_Mutation_p.D170N|GABRP_ENST00000519598.1_Missense_Mutation_p.D170N O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 170 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATACCCCATGGACACACAGAC 0.408000 35 19 0 0 0.005524 0 0 SOX9 6662 broad.mit.edu 37 17 70119866 70119866 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:70119866G>A ENST00000245479.2 + 3 1240 c.868G>A c.(868-870)Gat>Aat p.D290N NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 290 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CGAGACCTTCGATGTCAACGA 0.662000 19 49 0 0 0.001523 0 0 MS4A10 341116 broad.mit.edu 37 11 60565891 60565891 + Missense_Mutation SNP C C T rs141894920 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:60565891C>T ENST00000308287.1 + 7 722 c.626C>T c.(625-627)cCg>cTg p.P209L NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 209 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 TGCCTTGTTCCGAATACACCA 0.547000 33 22 0 0 0.002445 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53216577 53216577 + Translation_Start_Site SNP C C A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:53216577C>A ENST00000342657.3 + 0 1023 HNRNPA1L2_ENST00000398039.1_De_novo_Start_OutOfFrame|HNRNPA1L2_ENST00000357495.2_De_novo_Start_OutOfFrame NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 TTTTTCTGCCCGTGGACGCCG 0.443000 6 191 0.000274275 0.00064768 0.004482 1 0 SIGLECL1 284369 broad.mit.edu 37 19 51770743 51770743 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:51770743G>A ENST00000316401.7 + 5 908 c.527G>A c.(526-528)gGa>gAa p.G176E CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.G82E|SIGLECL1_ENST00000593968.1_3'UTR NM_173635.1 NP_775906.1 SIGLEC family like 1 GAGGAACCAGGAAAACCCGTA 0.458000 39 83 0 0 0.001706 0 0 PDE6B 5158 broad.mit.edu 37 4 619805 619805 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:619805C>T ENST00000255622.6 + 1 433 c.390C>T c.(388-390)atC>atT p.I130I PDE6B_ENST00000496514.1_Silent_p.I130I NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 130 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 ACTCCGAGATCGTCTTCCCAC 0.667000 7 15 0 0 0.004482 0 0 DLC1 10395 broad.mit.edu 37 8 12958028 12958028 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:12958028G>A ENST00000276297.4 - 9 2227 c.1818C>T c.(1816-1818)caC>caT p.H606H DLC1_ENST00000358919.2_Silent_p.H169H|DLC1_ENST00000520226.1_Silent_p.H95H|DLC1_ENST00000512044.2_Silent_p.H203H NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 606 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 TGGGGGGCGCGTGGCTGGGGA 0.677000 72 135 0 0 0.003610 0 0 CDH4 1002 broad.mit.edu 37 20 60498611 60498611 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:60498611G>A ENST00000360469.5 + 10 1565 c.1477G>A c.(1477-1479)Ggg>Agg p.G493R CDH4_ENST00000543233.1_Missense_Mutation_p.G419R NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 493 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GTCCACGGCAGGGGTGACCAT 0.607000 13 27 0 0 0.001855 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906733 13906733 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:13906733G>A ENST00000279593.3 - 3 737 c.528C>T c.(526-528)ttC>ttT p.F176F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 176 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTAGCCAGGGAAATAGGTGG 0.478000 51 88 0 0 0.003610 0 0 EPB41L3 23136 broad.mit.edu 37 18 5410589 5410589 + Silent SNP G G A rs140128908 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:5410589G>A ENST00000341928.2 - 14 2437 c.2097C>T c.(2095-2097)gcC>gcT p.A699A EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.A530A|EPB41L3_ENST00000400111.3_Silent_p.A530A|EPB41L3_ENST00000342933.3_Silent_p.A699A|EPB41L3_ENST00000544123.1_Silent_p.A530A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 699 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCTCCCCGTCGGCTGCGGTGT 0.532000 24 30 0 0 0.005443 0 0 LPL 4023 broad.mit.edu 37 8 19805791 19805791 + Silent SNP C C T rs114726797 by1000genomes TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:19805791C>T ENST00000311322.8 + 2 659 c.189C>T c.(187-189)tcC>tcT p.S63S LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 63 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TAGCAGAGTCCGTGGCTACCT 0.502000 88 15 0 0 0.003610 0 0 RALGAPB 57148 broad.mit.edu 37 20 37154131 37154131 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:37154131C>T ENST00000262879.6 + 12 2156 c.1872C>T c.(1870-1872)ctC>ctT p.L624L RALGAPB_ENST00000397042.3_Silent_p.L624L|RALGAPB_ENST00000397040.1_Silent_p.L624L|RALGAPB_ENST00000397038.1_Silent_p.L402L Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 624 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTTGCCCCTCCCTCATCATT 0.318000 42 85 0 0 0.003610 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363718 21363718 + RNA SNP C C G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:21363718C>G ENST00000452284.1 + 0 1385 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 ATGAGGAAGCCCTGCAGTCCC 0.597000 10 19 0 0 0.001368 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591600 46591600 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:46591600C>T ENST00000398637.5 - 16 1959 c.1264_splice c.e16-1 p.G422_splice SLC38A1_ENST00000439706.1_Splice_Site_p.G422_splice|SLC38A1_ENST00000546893.1_Splice_Site_p.G422_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.G422_splice|SLC38A1_ENST00000552197.1_Splice_Site_p.G422_splice NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 422 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AGATGTAACTCCTGTAAAATA 0.343000 16 38 0 0 0.003163 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719847 140719847 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:140719847C>T ENST00000394576.2 + 1 1309 c.1309C>T c.(1309-1311)Cac>Tac p.H437Y PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGATGCTCACATTTTGCT 0.532000 39 26 0 0 0.001287 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868369 31868369 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:31868369G>A ENST00000375527.2 - 2 889 c.714C>T c.(712-714)tcC>tcT p.S238S C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 238 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GGCCACCCACGGAGCCTCCAA 0.662000 127 327 0 0 0.003610 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171146 150171146 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:150171146G>A ENST00000307271.3 + 4 1303 c.729G>A c.(727-729)ccG>ccA p.P243P NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 243 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGCAGAATCCGGGGACATCAG 0.552000 47 129 0 0 0.003610 0 0 KRT5 3852 broad.mit.edu 37 12 52908823 52908823 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:52908823C>T ENST00000252242.4 - 9 2066 c.1676G>A c.(1675-1677)cGa>cAa p.R559Q NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 559 Ser-rich.|Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CCCCAGCCCTCGGCCACTGCT 0.622000 18 38 0 0 0.005443 0 0 ZNF618 114991 broad.mit.edu 37 9 116770806 116770806 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:116770806C>T ENST00000288466.7 + 8 729 c.630C>T c.(628-630)ccC>ccT p.P210P ZNF618_ENST00000374126.5_Silent_p.P242P NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 AGGAGGAGCCCCCGGAGCCAT 0.652000 12 32 0 0 0.001855 0 0 NXN 64359 broad.mit.edu 37 17 726978 726978 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:726978G>A ENST00000336868.3 - 3 597 c.506C>T c.(505-507)cCc>cTc p.P169L NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.P61L NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 169 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) TTCCCTGAAGGGTTTCGGTCC 0.547000 17 25 0 0 0.000958 0 0 PAX8 7849 broad.mit.edu 37 2 113994298 113994298 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:113994298C>T ENST00000429538.3 - 8 972 c.777_splice c.e8-1 p.G260_splice AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263334.5_Splice_Site_p.G260_splice|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Splice_Site_p.G260_splice|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000553869.2_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 260 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 GGGTAGAGGCCCTGGGGAGCA 0.622000 T PPARG follicular thyroid Thyroid dysgenesis 4 5 0 0 0.000248 0 0 LRP1B 53353 broad.mit.edu 37 2 141072609 141072609 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:141072609C>T ENST00000389484.3 - 83 13671 c.12700G>A c.(12700-12702)Gat>Aat p.D4234N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4234 EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACCTCAAATCACCTTTCTCA 0.388000 TSP Lung(27;0.18) 14 10 0 0 0.002450 0 0 CHD6 84181 broad.mit.edu 37 20 40102057 40102057 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:40102057G>A ENST00000373233.3 - 17 2746 c.2569C>T c.(2569-2571)Ctg>Ttg p.L857L CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 857 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTGGTGCACAGAAGAAAGACA 0.517000 25 58 0 0 0.003954 0 0 LRP2 4036 broad.mit.edu 37 2 170013888 170013888 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:170013888G>A ENST00000263816.3 - 64 12297 c.12012C>T c.(12010-12012)tcC>tcT p.S4004S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4004 EGF-like 14. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TACCTAGACAGGAGGTTCTGT 0.363000 5 14 0 0 0.000602 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21795941 21795941 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:21795941A>G ENST00000206660.6 + 17 2870 c.2870A>G c.(2869-2871)gAg>gGg p.E957G RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E614G|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E957G|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E316G|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E283G|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E919G Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 957 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TCATCTGAAGAGGAAAAGGCT 0.463000 14 8 0 0 0.003163 0 0 MUC4 4585 broad.mit.edu 37 3 195491943 195491943 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:195491943C>T ENST00000463781.3 - 10 14308 c.13849G>A c.(13849-13851)Gga>Aga p.G4617R MUC4_ENST00000475231.1_Missense_Mutation_p.G4565R|MUC4_ENST00000346145.4_Missense_Mutation_p.G381R|MUC4_ENST00000349607.4_Missense_Mutation_p.G330R NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1374 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CACACGCCTCCTCGCCAAGAG 0.657000 9 29 0 0 0.004482 0 0 CAND1 55832 broad.mit.edu 37 12 67699385 67699385 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:67699385C>T ENST00000545606.1 + 10 2374 c.1937C>T c.(1936-1938)cCt>cTt p.P646L NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 646 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GATTTGAGGCCTGTTCTGGGA 0.393000 40 64 0 0 0.002222 0 0 FAM46D 169966 broad.mit.edu 37 X 79698282 79698282 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:79698282G>A ENST00000538312.1 + 5 578 c.244G>A c.(244-246)Gat>Aat p.D82N FAM46D_ENST00000308293.5_Missense_Mutation_p.D82N NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 82 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 CAGCTATAAGGATCTGGACGT 0.383000 11 3 0 0 0.000978 0 0 SAP130 79595 broad.mit.edu 37 2 128767934 128767934 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:128767934G>A ENST00000357702.5 - 7 987 c.856C>T c.(856-858)Cct>Tct p.P286S SAP130_ENST00000259235.3_Missense_Mutation_p.P286S|SAP130_ENST00000259234.6_Missense_Mutation_p.P260S NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 286 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACAGCAGGAGGGATGGCATTG 0.448000 9 46 0 0 0.000443 0 0 MYOM3 127294 broad.mit.edu 37 1 24419474 24419474 + Silent SNP G G A rs143871016 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:24419474G>A ENST00000330966.7 - 10 1218 c.1056C>T c.(1054-1056)ttC>ttT p.F352F MYOM3_ENST00000374434.3_Silent_p.F351F|MYOM3_ENST00000329601.7_Silent_p.F351F|MYOM3_ENST00000475306.1_5'UTR Q5VTT5 MYOM3_HUMAN myomesin 3 351 Ig-like C2-type 2. p.F351F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCCGGGGTCCGAAGGGCGAGG 0.642000 16 23 0 0 0.003163 0 0 OR13F1 138805 broad.mit.edu 37 9 107266751 107266751 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:107266751G>A ENST00000334726.2 + 1 297 c.208G>A c.(208-210)Gac>Aac p.D70N NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CTCCTTTCTGGACATCTGGTA 0.483000 48 121 0 0 0.003610 0 0 SLC37A1 54020 broad.mit.edu 37 21 43963548 43963548 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:43963548G>A ENST00000352133.2 + 8 1548 c.566G>A c.(565-567)aGa>aAa p.R189K SLC37A1_ENST00000398341.3_Missense_Mutation_p.R189K P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 189 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 TGCTGCAGGAGAGGTTTGATT 0.567000 74 142 0 0 0.003610 0 0 MUSK 4593 broad.mit.edu 37 9 113547266 113547266 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:113547266G>A ENST00000416899.2 + 10 1658 c.1532G>A c.(1531-1533)cGa>cAa p.R511Q MUSK_ENST00000374448.4_Missense_Mutation_p.R519Q|MUSK_ENST00000189978.5_Missense_Mutation_p.R519Q|MUSK_ENST00000374438.1_Intron O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 519 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R519Q(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TATTGCTGCCGAAGAAGAAAA 0.358000 47 109 0 0 0.003610 0 0 KIF21A 55605 broad.mit.edu 37 12 39698727 39698727 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:39698727C>T ENST00000395670.3 - 34 4878 c.4459G>A c.(4459-4461)Gga>Aga p.G1487R KIF21A_ENST00000541463.2_Missense_Mutation_p.G1433R|KIF21A_ENST00000544797.2_Missense_Mutation_p.G1449R|KIF21A_ENST00000361961.3_Missense_Mutation_p.G1473R|KIF21A_ENST00000361418.5_Missense_Mutation_p.G1486R Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1486 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GTTAACTTTCCTGTAGACTGA 0.353000 8 15 0 0 0.003080 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142224030 142224030 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:142224030G>A ENST00000390367.3 - 0 153 AGCATGGCCAGAAATAGGATC 0.488000 39 40 0 0 0.001485 0 0 DMP1 1758 broad.mit.edu 37 4 88584265 88584265 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:88584265G>A ENST00000339673.6 + 6 1434 c.1335G>A c.(1333-1335)gaG>gaA p.E445E RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Silent_p.E429E NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 445 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GTCAGAGCGAGGAAAGCCATT 0.537000 27 40 0 0 0.004656 0 0 WWC1 23286 broad.mit.edu 37 5 167896006 167896006 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:167896006C>T ENST00000265293.4 + 23 3828 c.3326C>T c.(3325-3327)tCt>tTt p.S1109F WWC1_ENST00000521089.1_Missense_Mutation_p.S1115F NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 1109 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CCAGCTCTCTCTGCAGATGAC 0.458000 41 26 0 0 0.003214 0 0 CECR6 27439 broad.mit.edu 37 22 17601206 17601206 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:17601206G>A ENST00000331437.3 - 1 937 c.812C>T c.(811-813)gCg>gTg p.A271V CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 271 Ala-rich. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CAGGGGCGGCGCGGCGTGGTG 0.801000 6 32 0 0 0.001984 0 0 NRSN2 80023 broad.mit.edu 37 20 334186 334186 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:334186C>T ENST00000382291.3 + 4 762 c.522C>T c.(520-522)ttC>ttT p.F174F NRSN2_ENST00000382285.2_Silent_p.F174F|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 174 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) CACCCATTTTCCGCAATGCCA 0.622000 48 89 0 0 0.003610 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32123681 32123681 + Missense_Mutation SNP C C A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:32123681C>A ENST00000422437.1 + 5 658 c.467C>A c.(466-468)tCc>tAc p.S156Y PPT2_ENST00000375143.2_Missense_Mutation_p.S156Y|PPT2_ENST00000324816.6_Missense_Mutation_p.S156Y|PPT2_ENST00000445576.2_Missense_Mutation_p.S156Y|PPT2_ENST00000375137.2_Missense_Mutation_p.S156Y|PPT2_ENST00000437001.2_Missense_Mutation_p.S33Y|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.S162Y|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Missense_Mutation_p.S156Y TTCCCCACCTCCATGCGGTCT 0.532000 184 405 4.24805e-90 1.02304e-89 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179614852 179614852 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:179614852G>A ENST00000360870.5 - 46 12497 c.12275C>T c.(12274-12276)cCc>cTc p.P4092L TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3468 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) GTCTCCAGAGGGAGGAACTGG 0.423000 6 15 0 0 0.001168 0 0 RPL10 6134 broad.mit.edu 37 X 153628162 153628162 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:153628162T>C ENST00000424325.2 + 5 397 c.209T>C c.(208-210)aTt>aCt p.I70T RPL10_ENST00000406022.2_Missense_Mutation_p.I19T|RPL10_ENST00000369817.2_Missense_Mutation_p.I70T NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 70 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGCCCGAATTTGTGCCAAT 0.493000 57 18 0 0 0.003610 0 0 PYGB 5834 broad.mit.edu 37 20 25277073 25277073 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:25277073G>A ENST00000216962.4 + 20 2557 c.2447G>A c.(2446-2448)cGg>cAg p.R816Q PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 816 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) TCCAGTGACCGGACCATCACG 0.607000 34 53 0 0 0.003271 0 0 LMBR1 64327 broad.mit.edu 37 7 156549148 156549148 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:156549148G>A ENST00000353442.4 - 9 932 c.696C>T c.(694-696)gaC>gaT p.D232D LMBR1_ENST00000359422.4_Silent_p.D80D|LMBR1_ENST00000354505.4_Silent_p.D232D|LMBR1_ENST00000540390.1_Silent_p.D211D NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 232 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) GTTCATCCAGGTCTTCAAGAA 0.284000 21 78 0 0 0.003330 0 0 THSD7A 221981 broad.mit.edu 37 7 11415488 11415488 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:11415488G>A ENST00000423059.3 - 28 5158 c.4907C>T c.(4906-4908)cCc>cTc p.P1636L AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1636 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTTCTTTGGGGTTTCTTTGG 0.353000 HNSCC(18;0.044) 26 94 0 0 0.001512 0 0 KIAA1804 84451 broad.mit.edu 37 1 233507856 233507856 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:233507856C>T ENST00000366624.3 + 6 1886 c.1625C>T c.(1624-1626)tCc>tTc p.S542F MLK4_ENST00000366623.3_Missense_Mutation_p.S542F NM_032435.2 NP_115811.2 AGCAGCAGTTCCAGTCCCCCG 0.567000 46 100 0 0 0.003610 0 0 LPL 4023 broad.mit.edu 37 8 19805790 19805790 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:19805790C>T ENST00000311322.8 + 2 658 c.188C>T c.(187-189)tCc>tTc p.S63F LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 63 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GTAGCAGAGTCCGTGGCTACC 0.502000 87 15 0 0 0.003610 0 0 ARPP21 10777 broad.mit.edu 37 3 35725273 35725273 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:35725273C>T ENST00000187397.4 + 5 683 c.227C>T c.(226-228)tCt>tTt p.S76F ARPP21_ENST00000428373.1_Missense_Mutation_p.S76F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S76F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S76F|ARPP21_ENST00000396482.2_Missense_Mutation_p.S76F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S76F|ARPP21_ENST00000412048.1_Missense_Mutation_p.S76F|ARPP21_ENST00000441454.1_Missense_Mutation_p.S76F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S76F|ARPP21_ENST00000438071.1_Missense_Mutation_p.S76F|ARPP21_ENST00000427542.1_Missense_Mutation_p.S76F|ARPP21_ENST00000432682.1_Missense_Mutation_p.S76F|ARPP21_ENST00000436702.1_Missense_Mutation_p.S76F|ARPP21_ENST00000396481.2_Missense_Mutation_p.S76F|ARPP21_ENST00000474696.1_Missense_Mutation_p.S76F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 76 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GAGGAATCTTCTGCCAGACCA 0.448000 5 6 0 0 0.000602 0 0 COL5A2 1290 broad.mit.edu 37 2 189932758 189932758 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:189932758C>T ENST00000374866.3 - 21 1658 c.1384G>A c.(1384-1386)Gga>Aga p.G462R NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 462 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTCGAATTCCCTGAGGACCA 0.498000 46 58 0 0 0.003610 0 0 CNGA2 1260 broad.mit.edu 37 X 150912707 150912707 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:150912707C>T ENST00000329903.4 + 6 1765 c.1732C>T c.(1732-1734)Ctc>Ttc p.L578F NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 578 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TCGGGAGATCCTCATGAAGGA 0.522000 80 35 0 0 0.003610 0 0 SREBF1 6720 broad.mit.edu 37 17 17719921 17719921 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:17719921G>A ENST00000355815.4 - 11 2156 c.1987C>T c.(1987-1989)Cgt>Tgt p.R663C SREBF1_ENST00000261646.5_Missense_Mutation_p.R633C|SREBF1_ENST00000338854.5_Missense_Mutation_p.R633C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R379C NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 633 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 AGCAGGTGACGGATGAGGTTC 0.716000 9 5 0 0 0.004482 0 0 RTCB 51493 broad.mit.edu 37 22 32804821 32804821 + Splice_Site SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:32804821C>T ENST00000216038.5 - 2 192 c.e2-1 RTCB_ENST00000451746.2_Splice_Site NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CACCTTCAACCTAGTACCAAG 0.418000 10 20 0 0 0.000673 0 0 MRPS31P5 100887750 broad.mit.edu 37 13 52744146 52744146 + RNA SNP T T G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr13:52744146T>G ENST00000451298.1 - 0 2175 RP11-64P12.8_ENST00000606031.1_RNA AGCAGTGGAATTATTTGGATT 0.348000 6 12 0 0 0.003080 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120348898 120348898 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:120348898C>T ENST00000397843.2 + 37 3732 c.3566C>T c.(3565-3567)tCg>tTg p.S1189L ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1086L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1170L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1189 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ACCTTAATATCGTCAAAACCT 0.373000 T MLL AML 14 14 0 0 0.001855 0 0 AOX1 316 broad.mit.edu 37 2 201460031 201460031 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:201460031G>A ENST00000374700.2 + 3 381 c.140G>A c.(139-141)gGa>gAa p.G47E NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 47 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TGTGGAGGAGGAGGCTGTGGT 0.423000 7 32 0 0 0.003080 0 0 C1orf127 148345 broad.mit.edu 37 1 11017747 11017747 + Nonsense_Mutation SNP C C A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:11017747C>A ENST00000377004.4 - 7 618 c.619G>T c.(619-621)Gga>Tga p.G207* C1orf127_ENST00000377008.4_Nonsense_Mutation_p.G58* NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 58 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) ACATACAGTCCCATCAGGCTG 0.582000 40 79 4.32679e-17 1.03009e-16 0.001485 1 0 TLR8 51311 broad.mit.edu 37 X 12938041 12938041 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:12938041C>T ENST00000218032.6 + 2 969 c.882C>T c.(880-882)ctC>ctT p.L294L TLR8_ENST00000311912.5_Silent_p.L312L NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 294 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ACCTAAACCTCTCTAGCACTT 0.408000 47 9 0 0 0.003610 0 0 MYT1 4661 broad.mit.edu 37 20 62838983 62838983 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:62838983C>T ENST00000536311.1 + 7 798 c.434C>T c.(433-435)cCc>cTc p.P145L MYT1_ENST00000328439.1_Missense_Mutation_p.P145L|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 145 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGATCCAACCCCATCGGCAGC 0.557000 41 94 0 0 0.002222 0 0 ADGRG6 57211 broad.mit.edu 37 6 142721671 142721671 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:142721671C>T ENST00000230173.6 + 11 2093 c.1617C>T c.(1615-1617)atC>atT p.I539I GPR126_ENST00000367609.3_Silent_p.I539I|GPR126_ENST00000367608.2_Silent_p.I511I|GPR126_ENST00000296932.8_Silent_p.I511I NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 539 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GGCCATCTATCCAACCTTCTG 0.413000 11 7 0 0 0.001368 0 0 DGCR6L 85359 broad.mit.edu 37 22 20302212 20302212 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:20302212G>A ENST00000248879.3 - 5 740 c.649C>T c.(649-651)Cct>Tct p.P217S DGCR6L_ENST00000405465.3_Missense_Mutation_p.P179S NM_033257.3 NP_150282.2 Q9BY27 DGC6L_HUMAN DiGeorge syndrome critical region gene 6-like 217 nucleus endometrium(1)|kidney(1)|lung(2)|stomach(1) 5 Colorectal(54;0.0993) GGTGGGACAGGGCTGCCTTTC 0.652000 12 32 0 0 0.000958 0 0 PILRB 29990 broad.mit.edu 37 7 99956403 99956403 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:99956403C>T ENST00000310771.4 + 16 2651 c.155C>T c.(154-156)cCc>cTc p.P52L PILRB_ENST00000444874.1_Intron|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.P52L|PILRB_ENST00000452089.1_Missense_Mutation_p.P52L Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 52 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTGGAAATCCCCTTCTCCTTC 0.542000 20 28 0 0 0.001882 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141356 143141356 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:143141356T>C ENST00000332690.1 + 1 811 c.811T>C c.(811-813)Ttt>Ctt p.F271L EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 271 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TGCAGGTATTTTTCCACCTCT 0.488000 16 325 0 0 0.006122 0 0 CDC42SE2 56990 broad.mit.edu 37 5 130721235 130721235 + Splice_Site SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:130721235G>A ENST00000505065.1 + 4 575 c.e4-1 CDC42SE2_ENST00000395246.1_Splice_Site|CDC42SE2_ENST00000360515.3_Splice_Site|CDC42SE2_ENST00000503291.1_Splice_Site Q9NRR3 C42S2_HUMAN CDC42 small effector 2 phagocytosis|regulation of cell shape|regulation of signal transduction cell projection|cytoplasm|cytoskeleton|phagocytic cup protein binding|structural molecule activity breast(1)|large_intestine(1)|skin(1) 3 all_cancers(142;0.0525)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCATATTTTAGAAAAGGCGAC 0.383000 26 15 0 0 0.004656 0 0 OR4D1 26689 broad.mit.edu 37 17 56233094 56233094 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:56233094C>T ENST00000268912.5 + 1 601 c.580C>T c.(580-582)Ctc>Ttc p.L194F NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGATACCTCCCTCCTGGAGTT 0.498000 30 48 0 0 0.002096 0 0 ETS2 2114 broad.mit.edu 37 21 40191545 40191545 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:40191545C>T ENST00000360214.3 + 9 1390 c.930C>T c.(928-930)tcC>tcT p.S310S ETS2_ENST00000360938.3_Silent_p.S310S NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 310 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GGGTTCCTTCCTTCGAGAGCT 0.552000 13 31 0 0 0.001855 0 0 SAP130 79595 broad.mit.edu 37 2 128767935 128767935 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:128767935G>A ENST00000357702.5 - 7 986 c.855C>T c.(853-855)atC>atT p.I285I SAP130_ENST00000259235.3_Silent_p.I285I|SAP130_ENST00000259234.6_Silent_p.I259I NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 285 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CAGCAGGAGGGATGGCATTGG 0.448000 9 46 0 0 0.000443 0 0 MEIS2 4212 broad.mit.edu 37 15 37184583 37184583 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:37184583G>A ENST00000338564.5 - 13 1650 c.1204C>T c.(1204-1206)Cct>Tct p.P402S MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.P402S|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.P409S|MEIS2_ENST00000219869.9_3'UTR NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 409 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) ATCTGGGGAGGAGTGTAACTT 0.512000 124 84 0 0 0.003610 0 0 CDHR5 53841 broad.mit.edu 37 11 618706 618706 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:618706C>T ENST00000358353.3 - 14 2175 c.1853G>A c.(1852-1854)gGa>gAa p.G618E CDHR5_ENST00000397542.2_Missense_Mutation_p.G618E|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 618 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGTGCTGGTTCCCATACCGGG 0.657000 58 63 0 0 0.003610 0 0 BAI3 577 broad.mit.edu 37 6 70070763 70070763 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:70070763C>T ENST00000370598.1 + 29 4419 c.3598C>T c.(3598-3600)Ctt>Ttt p.L1200F BAI3_ENST00000238918.8_Missense_Mutation_p.L406F|BAI3_ENST00000546190.1_Missense_Mutation_p.L164F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1200 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACTCACAGTTCTTCATAAGGA 0.338000 9 33 0 0 0.004482 0 0 DEFB110 245913 broad.mit.edu 37 6 49986740 49986740 + Missense_Mutation SNP T T A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:49986740T>A ENST00000371148.2 - 2 199 c.154A>T c.(154-156)Agg>Tgg p.R52W DEFB110_ENST00000393660.2_Intron NM_001037497.1 NP_001032586.1 Q30KQ9 DB110_HUMAN defensin, beta 110 locus 52 defense response to bacterium extracellular region endometrium(1)|lung(1)|ovary(1) 3 Lung NSC(77;0.042) TAAGCAATCCTAATTTCATTT 0.408000 6 22 0 0 0.001984 0 0 PLCH2 9651 broad.mit.edu 37 1 2436369 2436369 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:2436369C>T ENST00000378486.3 + 22 4242 c.3968C>T c.(3967-3969)cCg>cTg p.P1323L PLCH2_ENST00000378488.3_Missense_Mutation_p.P1287L|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000419816.2_Missense_Mutation_p.P1323L NM_014638.2 NP_055453.2 O75038 PLCH2_HUMAN phospholipase C, eta 2 1323 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) AGCCTGGGCCCGGCTGGGGAG 0.721000 6 9 0 0 0.003080 0 0 IRF7 3665 broad.mit.edu 37 11 612695 612695 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:612695G>A ENST00000397566.1 - 9 1910 c.1501C>T c.(1501-1503)Ctc>Ttc p.L501F IRF7_ENST00000397574.2_Missense_Mutation_p.L488F|IRF7_ENST00000397562.3_Missense_Mutation_p.L195F|IRF7_ENST00000397570.1_Missense_Mutation_p.L459F|IRF7_ENST00000525445.1_Missense_Mutation_p.L382F|IRF7_ENST00000330243.5_Missense_Mutation_p.L501F|IRF7_ENST00000348655.6_Missense_Mutation_p.L459F NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 488 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCGTCATAGAGGCTGTTGGCG 0.597000 43 23 0 0 0.003610 0 0 ATG2A 23130 broad.mit.edu 37 11 64677518 64677518 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:64677518G>A ENST00000421419.2 - 13 1971 c.1857C>T c.(1855-1857)ggC>ggT p.G619G ATG2A_ENST00000377264.3_Silent_p.G619G Q2TAZ0 ATG2A_HUMAN autophagy related 2A 619 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TCACCAGCAGGCCGGCTGGAG 0.731000 15 6 0 0 0.004007 0 0 DPY19L3 147991 broad.mit.edu 37 19 32971433 32971433 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:32971433C>T ENST00000342179.5 + 18 2174 c.1959C>T c.(1957-1959)ctC>ctT p.L653L DPY19L3_ENST00000586987.1_Silent_p.L653L|DPY19L3_ENST00000392250.2_Silent_p.L653L NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 653 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) GCTGCCGACTCCGGGACCTGC 0.607000 30 44 0 0 0.002096 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993591 140993591 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chrX:140993591C>T ENST00000285879.4 + 4 687 c.401C>T c.(400-402)tCc>tTc p.S134F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 134 protein binding p.S134F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCGAGTTCCTTCTTCTCC 0.502000 HNSCC(15;0.026) 54 27 0 0 0.003610 0 0 ATF6 22926 broad.mit.edu 37 1 161816269 161816269 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:161816269C>T ENST00000367942.3 + 10 1285 c.1218C>T c.(1216-1218)aaC>aaT p.N406N ATF6_ENST00000476437.1_3'UTR NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 406 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GGAGAATGAACCCTAGTGTGA 0.403000 22 29 0 0 0.002299 0 0 FCAR 2204 broad.mit.edu 37 19 55399609 55399609 + Missense_Mutation SNP G G C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:55399609G>C ENST00000355524.3 + 4 607 c.597G>C c.(595-597)agG>agC p.R199S FCAR_ENST00000345937.4_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.R199S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Missense_Mutation_p.R187S|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.R90S|FCAR_ENST00000391725.3_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 199 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) GGTACAACAGGAGCCCCTACC 0.587000 7 20 0 0 0.001984 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 7 41 0 0 0.004482 0 0 DMBT1 1755 broad.mit.edu 37 10 124399828 124399828 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:124399828G>A ENST00000368909.3 + 52 6934 c.6828G>A c.(6826-6828)gtG>gtA p.V2276V DMBT1_ENST00000359586.6_Silent_p.V996V|DMBT1_ENST00000330163.4_Silent_p.V1648V|DMBT1_ENST00000338354.3_Silent_p.V2276V|DMBT1_ENST00000344338.3_Silent_p.V2266V|DMBT1_ENST00000368956.2_Silent_p.V1648V|DMBT1_ENST00000368955.3_Silent_p.V2266V NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2276 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTTACTACGTGGACCTGAACC 0.478000 53 64 0 0 0.003610 0 0 SLC26A9 115019 broad.mit.edu 37 1 205890930 205890930 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:205890930G>A ENST00000367135.3 - 17 1932 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S SLC26A9_ENST00000367134.2_Missense_Mutation_p.P607S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P607S NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 607 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GGGTCGGTGGGGGGCGCATTC 0.622000 10 23 0 0 0.000978 0 0 ACPT 93650 broad.mit.edu 37 19 51298160 51298160 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:51298160G>A ENST00000270593.1 + 10 1104 c.1104G>A c.(1102-1104)ccG>ccA p.P368P ACPT_ENST00000270594.3_Silent_p.P275P NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 368 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGACTGCCCCGGCCCGGCCTC 0.692000 37 205 0 0 0.004289 0 0 ZNF117 51351 broad.mit.edu 37 7 64439187 64439187 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:64439187G>A ENST00000282869.5 - 4 2046 c.762C>T c.(760-762)tgC>tgT p.C254C NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) AAGCTTTGCCGCATTCTTCAC 0.368000 4 40 0 0 0.000602 0 0 ATG9B 285973 broad.mit.edu 37 7 150721026 150721026 + Missense_Mutation SNP G G C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:150721026G>C ENST00000605938.1 - 1 560 c.485C>G c.(484-486)tCc>tGc p.S162C ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.S162C|ATG9B_ENST00000605952.1_Missense_Mutation_p.S162C NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 162 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAGTCTTGGGACCCCTCAGG 0.622000 6 8 0 0 0.001984 0 0 AGO4 192670 broad.mit.edu 37 1 36297478 36297478 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:36297478G>A ENST00000373210.3 + 9 1307 c.1062G>A c.(1060-1062)atG>atA p.M354I NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 CTTCCACAATGATCAAAGCTA 0.433000 20 31 0 0 0.001216 0 0 EPHA3 2042 broad.mit.edu 37 3 89259255 89259255 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:89259255G>A ENST00000336596.2 + 3 624 c.399G>A c.(397-399)gtG>gtA p.V133V EPHA3_ENST00000452448.2_Silent_p.V133V|EPHA3_ENST00000494014.1_Silent_p.V133V NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 133 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATCATGGGGTGAAATTTCGAG 0.423000 TSP Lung(6;0.00050) 16 35 0 0 0.003163 0 0 OR5B3 441608 broad.mit.edu 37 11 58170372 58170372 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:58170372C>T ENST00000309403.2 - 1 510 c.511G>A c.(511-513)Gaa>Aaa p.E171K NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGATGGACTTCATTGGACTTA 0.443000 20 12 0 0 0.001216 0 0 KCNMA1 3778 broad.mit.edu 37 10 79163678 79163678 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:79163678G>A ENST00000286627.5 - 2 1434 c.482C>T c.(481-483)tCc>tTc p.S161F KCNMA1_ENST00000286628.8_Missense_Mutation_p.S161F|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S161F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S161F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S161F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S161F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S161F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S161F NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 161 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GTCCTTCACGGAGGTCATCCA 0.592000 24 17 0 0 0.003954 0 0 CHD5 26038 broad.mit.edu 37 1 6184071 6184071 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:6184071C>T ENST00000262450.3 - 31 4735 c.4636G>A c.(4636-4638)Gac>Aac p.D1546N CHD5_ENST00000378021.1_Missense_Mutation_p.D403N NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1546 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTGTTGGGGTCCGAGGAGATC 0.682000 9 20 0 0 0.000443 0 0 CD72 971 broad.mit.edu 37 9 35611858 35611858 + Nonsense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:35611858C>T ENST00000396757.1 - 8 1057 c.893G>A c.(892-894)tGg>tAg p.W298* CD72_ENST00000259633.4_Nonsense_Mutation_p.W298*|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 298 C-type lectin. axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GAGGCCAGTCCAATATGAATT 0.428000 OREG0019172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 40 0 0 0.000958 0 0 MYO1H 283446 broad.mit.edu 37 12 109876414 109876414 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:109876414G>A ENST00000310903.5 + 23 2341 c.2235G>A c.(2233-2235)cgG>cgA p.R745R MYO1H_ENST00000431443.2_Silent_p.R755R B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 GGGCCGTGCGGATTATCAGAA 0.512000 13 9 0 0 0.003163 0 0 CABP7 164633 broad.mit.edu 37 22 30123650 30123650 + Splice_Site SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:30123650G>A ENST00000216144.3 + 2 450 c.e2-1 NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) TCTCTCCTCAGAGATCCGAGA 0.597000 53 151 0 0 0.003610 0 0 VPS13A 23230 broad.mit.edu 37 9 79908348 79908348 + Missense_Mutation SNP T T G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:79908348T>G ENST00000360280.3 + 32 3691 c.3431T>G c.(3430-3432)gTg>gGg p.V1144G VPS13A_ENST00000376634.4_Missense_Mutation_p.V1144G|VPS13A_ENST00000357409.5_Missense_Mutation_p.V1144G|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.V1105G NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1144 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GATATGAATGTGGTTGACATT 0.299000 27 65 0 0 0.001271 0 0 BIRC6 57448 broad.mit.edu 37 2 32640219 32640219 + Silent SNP T T G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:32640219T>G ENST00000421745.2 + 10 1994 c.1860T>G c.(1858-1860)tcT>tcG p.S620S NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 620 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AACTAAATTCTCCTCTGGTAA 0.393000 12 45 0 0 0.001855 0 0 TRAV3 28690 broad.mit.edu 37 14 22192035 22192035 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:22192035C>T ENST00000390425.2 + 0 76 GTTGCTGGTTCCTCTTCAAGA 0.602000 15 17 0 0 0.002450 0 0 TP63 8626 broad.mit.edu 37 3 189587173 189587173 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:189587173A>G ENST00000264731.3 + 9 1279 c.1190A>G c.(1189-1191)gAt>gGt p.D397G TP63_ENST00000440651.2_Missense_Mutation_p.D393G|TP63_ENST00000392460.3_Missense_Mutation_p.D397G|TP63_ENST00000392461.3_Missense_Mutation_p.D303G|TP63_ENST00000456148.1_Missense_Mutation_p.D299G|TP63_ENST00000320472.5_Missense_Mutation_p.D397G|TP63_ENST00000418709.2_Missense_Mutation_p.D397G|TP63_ENST00000354600.5_Missense_Mutation_p.D303G|TP63_ENST00000382063.4_Missense_Mutation_p.D312G|TP63_ENST00000437221.1_Missense_Mutation_p.D303G|TP63_ENST00000449992.1_Missense_Mutation_p.D218G|TP63_ENST00000392463.2_Missense_Mutation_p.D303G NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 397 Oligomerization. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGATCCCCAGATGATGAACTG 0.418000 HNSCC(45;0.13) 5 39 0 0 0.001168 0 0 NFATC1 4772 broad.mit.edu 37 18 77170939 77170939 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:77170939C>T ENST00000253506.5 + 2 1033 c.664C>T c.(664-666)Ccc>Tcc p.P222S NFATC1_ENST00000586434.1_Missense_Mutation_p.P209S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.P222S|NFATC1_ENST00000587635.1_Missense_Mutation_p.P222S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P209S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P209S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P209S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.P222S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P222S NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 222 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GGAGGGCTTTCCCCGCGGGCT 0.706000 55 47 0 0 0.003610 0 0 CCDC136 64753 broad.mit.edu 37 7 128441254 128441254 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:128441254C>T ENST00000297788.4 + 4 728 c.361C>T c.(361-363)Cta>Tta p.L121L CCDC136_ENST00000464832.1_Silent_p.L171L|CCDC136_ENST00000378685.4_Silent_p.L171L|CCDC136_ENST00000487361.1_Silent_p.L121L NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 121 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GCTGCGTTCTCTACGGGAGGA 0.463000 5 45 0 0 0.000602 0 0 GIT1 28964 broad.mit.edu 37 17 27903339 27903339 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:27903339G>A ENST00000225394.3 - 14 1758 c.1510C>T c.(1510-1512)Cgc>Tgc p.R504C RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.R513C|GIT1_ENST00000581348.1_Missense_Mutation_p.R513C|GIT1_ENST00000579937.1_Missense_Mutation_p.R504C NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 504 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) AAGGCCTGGCGATCCCTGCGG 0.677000 35 122 0 0 0.004289 0 0 SDF4 51150 broad.mit.edu 37 1 1153003 1153003 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:1153003G>A ENST00000360001.6 - 7 1240 c.978C>T c.(976-978)gcC>gcT p.A326A SDF4_ENST00000263741.7_3'UTR Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 326 EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity). 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) GGTTCTCGTCGGCGACGGCGA 0.637000 37 74 0 0 0.001706 0 0 MUC16 94025 broad.mit.edu 37 19 9090179 9090179 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:9090179C>T ENST00000397910.4 - 1 1839 c.1636G>A c.(1636-1638)Gag>Aag p.E546K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 546 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGGGTCTCTCTGTTTTCATG 0.527000 36 56 0 0 0.001287 0 0 MCM3AP 8888 broad.mit.edu 37 21 47674388 47674388 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:47674388G>A ENST00000397708.1 - 20 4308 c.4054C>T c.(4054-4056)Cct>Tct p.P1352S MCM3AP_ENST00000291688.1_Missense_Mutation_p.P1352S|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1352 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGCCTCCCAGGGAGGTGCTCA 0.597000 17 47 0 0 0.004990 0 0 CCSER1 401145 broad.mit.edu 37 4 91321259 91321259 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:91321259G>A ENST00000509176.1 + 4 1870 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K CCSER1_ENST00000432775.2_Missense_Mutation_p.E528K|CCSER1_ENST00000333691.8_Missense_Mutation_p.E528K NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 ATTTTTAGAGGAACAGAGTCT 0.353000 9 19 0 0 0.000673 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155291 108155291 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:108155291G>A ENST00000426128.2 - 2 770 c.645C>T c.(643-645)ttC>ttT p.F215F PNPLA8_ENST00000436062.1_Silent_p.F215F|PNPLA8_ENST00000422087.1_Silent_p.F215F|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Silent_p.F215F|PNPLA8_ENST00000453144.1_Silent_p.F115F|PNPLA8_ENST00000388728.5_Silent_p.F215F NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 215 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 CCTTACGTTTGAAATATGAAT 0.303000 13 40 0 0 0.001855 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004526 101004526 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr14:101004526C>T ENST00000556751.1 - 5 4774 c.1370G>A c.(1369-1371)gGg>gAg p.G457E BEGAIN_ENST00000355173.2_Missense_Mutation_p.G521E|BEGAIN_ENST00000443071.2_Missense_Mutation_p.G521E Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 521 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GAGCCTGTCCCCGTCCCCCCC 0.736000 14 4 0 0 0.003163 0 0 DNAH3 55567 broad.mit.edu 37 16 21042384 21042384 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:21042384G>A ENST00000261383.3 - 37 5421 c.5422C>T c.(5422-5424)Ctg>Ttg p.L1808L DNAH3_ENST00000415178.1_Silent_p.L1808L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1808 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTGTCATCCAGAACAGTGTTC 0.368000 30 43 0 0 0.001512 0 0 LUC7L 55692 broad.mit.edu 37 16 239276 239276 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:239276G>A ENST00000293872.8 - 10 1147 c.1037C>T c.(1036-1038)cCc>cTc p.P346L LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR NM_201412.1 NP_958815.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 346 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CCAGTCCGGGGGCCCTCGCTC 0.642000 25 105 0 0 0.003954 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182233 57182233 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:57182233C>T ENST00000504228.1 + 6 2670 c.2565C>T c.(2563-2565)tcC>tcT p.S855S KIAA1211_ENST00000264229.6_Silent_p.S855S|KIAA1211_ENST00000541073.1_Silent_p.S848S Q6ZU35 K1211_HUMAN KIAA1211 855 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CCAACTATTCCTTGCGCTTCA 0.562000 26 34 0 0 0.003330 0 0 PPP6C 5537 broad.mit.edu 37 9 127915934 127915934 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:127915934G>A ENST00000451402.1 - 7 878 c.658C>T c.(658-660)Cag>Tag p.Q220* PPP6C_ENST00000415905.1_Nonsense_Mutation_p.Q161*|PPP6C_ENST00000373546.3_Nonsense_Mutation_p.Q36*|PPP6C_ENST00000373547.4_Nonsense_Mutation_p.Q183* NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 183 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GGAATTTCCTGATTCCGTTCG 0.428000 20 34 0 0 0.001216 0 0 RANBP2 5903 broad.mit.edu 37 2 109388184 109388184 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:109388184C>T ENST00000283195.6 + 21 8003 c.7877C>T c.(7876-7878)tCt>tTt p.S2626F NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2626 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CCTGAAGATTCTCCCTCAGAT 0.358000 89 97 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21063133 21063133 + Nonsense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:21063133G>A ENST00000261383.3 - 29 4095 c.4096C>T c.(4096-4098)Caa>Taa p.Q1366* DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1366* NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1366 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAGATCCATTGGAAATCATTC 0.527000 56 76 0 0 0.003610 0 0 POM121L12 285877 broad.mit.edu 37 7 53103403 53103403 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:53103403G>A ENST00000408890.4 + 1 55 c.39G>A c.(37-39)ggG>ggA p.G13G NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 13 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CAGACCTCGGGAACTTCTGGA 0.701000 13 17 0 0 0.001368 0 0 PUS7 54517 broad.mit.edu 37 7 105099683 105099683 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:105099683G>A ENST00000356362.2 - 15 1995 c.1781C>T c.(1780-1782)cCc>cTc p.P594L PUS7_ENST00000469408.1_Missense_Mutation_p.P594L NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 594 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TGGAATTTTGGGATCATCATA 0.373000 37 59 0 0 0.001951 0 0 DMTF1 9988 broad.mit.edu 37 7 86817420 86817420 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:86817420G>A ENST00000414194.2 + 13 2208 c.416G>A c.(415-417)gGt>gAt p.G139D DMTF1_ENST00000432937.2_Missense_Mutation_p.G317D|DMTF1_ENST00000331242.7_Missense_Mutation_p.G405D|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000394703.5_Missense_Mutation_p.G405D Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 405 Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) TTAATAAAAGGTCTTAAACAG 0.433000 17 25 0 0 0.004990 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110478892 110478892 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:110478892C>T ENST00000378402.5 + 50 8603 c.8499C>T c.(8497-8499)ttC>ttT p.F2833F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2833 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) GCATTGGGTTCCCTGGATCAG 0.478000 HNSCC(38;0.096) 20 16 0 0 0.001216 0 0 TROVE2 6738 broad.mit.edu 37 1 193038627 193038627 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:193038627T>C ENST00000367446.3 + 2 653 c.443T>C c.(442-444)cTc>cCc p.L148P TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367443.1_Missense_Mutation_p.L148P|TROVE2_ENST00000367445.3_Missense_Mutation_p.L148P|TROVE2_ENST00000400968.2_Missense_Mutation_p.L148P|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.L148P|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.L148P NM_004600.5 NP_004591.2 P10155 RO60_HUMAN TROVE domain family, member 2 148 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 GGTCGTGCCCTCCGGAAGGCT 0.448000 31 102 0 0 0.003755 0 0 AGPAT3 56894 broad.mit.edu 37 21 45390563 45390563 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:45390563C>T ENST00000398063.2 + 5 1032 c.540C>T c.(538-540)ttC>ttT p.F180F AGPAT3_ENST00000398061.1_Silent_p.F180F|AGPAT3_ENST00000291572.8_Silent_p.F180F|AGPAT3_ENST00000327505.2_Silent_p.F180F|AGPAT3_ENST00000398058.1_Silent_p.F180F|AGPAT3_ENST00000546158.1_Silent_p.F180F|AGPAT3_ENST00000479117.1_3'UTR NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 180 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GGACGCGCTTCACGGAGACCA 0.632000 24 36 0 0 0.003954 0 0 RASAL1 8437 broad.mit.edu 37 12 113554893 113554893 + Missense_Mutation SNP G G T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:113554893G>T ENST00000546530.1 - 9 1001 c.716C>A c.(715-717)gCc>gAc p.A239D RASAL1_ENST00000261729.5_Missense_Mutation_p.A239D|RASAL1_ENST00000548055.1_Missense_Mutation_p.A239D|RASAL1_ENST00000446861.3_Missense_Mutation_p.A239D|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 239 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 ATCCTCCTCGGCTCTGGGAAA 0.617000 32 20 1.42033e-22 3.38695e-22 0.004289 1 0 CD226 10666 broad.mit.edu 37 18 67563239 67563239 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:67563239G>A ENST00000280200.4 - 4 693 c.425C>T c.(424-426)tCg>tTg p.S142L CD226_ENST00000581982.1_5'UTR|CD226_ENST00000582621.1_Missense_Mutation_p.S142L|CD226_ENST00000577287.1_5'UTR NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 142 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TCCAGGTTCCGAAACAATGTG 0.478000 36 36 0 0 0.001951 0 0 SVEP1 79987 broad.mit.edu 37 9 113139557 113139557 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:113139557C>T ENST00000401783.2 - 45 10834 c.10498G>A c.(10498-10500)Gaa>Aaa p.E3500K SVEP1_ENST00000374469.1_Missense_Mutation_p.E3477K|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1426K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3500 EGF-like 8. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCACGTTCTTCACAGAGGCGC 0.517000 29 50 0 0 0.001061 0 0 ATP2B2 491 broad.mit.edu 37 3 10384605 10384605 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:10384605G>A ENST00000397077.1 - 18 3188 c.2613C>T c.(2611-2613)atC>atT p.I871I ATP2B2_ENST00000383800.4_Silent_p.I871I|ATP2B2_ENST00000343816.4_Silent_p.I902I|ATP2B2_ENST00000352432.4_Silent_p.I916I|ATP2B2_ENST00000360273.2_Silent_p.I916I Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 916 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACGTGTCCATGATGAGGTTCA 0.647000 26 85 0 0 0.001271 0 0 ZNF135 7694 broad.mit.edu 37 19 58578848 58578848 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:58578848G>A ENST00000506786.1 + 5 1424 c.870G>A c.(868-870)ggG>ggA p.G290G ZNF135_ENST00000511556.1_Silent_p.G344G|ZNF135_ENST00000359978.6_Silent_p.G344G|ZNF135_ENST00000313434.5_Silent_p.G332G|ZNF135_ENST00000401053.4_Silent_p.G356G|ZNF135_ENST00000439855.2_Silent_p.G332G B4DHH9 B4DHH9_HUMAN zinc finger protein 135 344 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) GTGAGTGTGGGAAAGCCTTCC 0.552000 12 22 0 0 0.000978 0 0 COL6A1 1291 broad.mit.edu 37 21 47409526 47409526 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:47409526G>A ENST00000361866.3 + 10 977 c.863G>A c.(862-864)aGa>aAa p.R288K NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 288 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TTCCAGGGAAGACCCGGGGAC 0.682000 28 66 0 0 0.001512 0 0 BIN1 274 broad.mit.edu 37 2 127809905 127809905 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:127809905C>T ENST00000316724.5 - 15 1708 c.1297G>A c.(1297-1299)Ggg>Agg p.G433R BIN1_ENST00000351659.3_Missense_Mutation_p.G346R|BIN1_ENST00000346226.3_Missense_Mutation_p.G358R|BIN1_ENST00000357970.3_Missense_Mutation_p.G390R|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000393041.3_Missense_Mutation_p.G315R|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000352848.3_Intron NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 433 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) CTGGGCTCCCCGGAAGGCAGG 0.701000 9 13 0 0 0.000978 0 0 OR10W1 81341 broad.mit.edu 37 11 58034453 58034453 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:58034453C>T ENST00000395079.2 - 1 1279 c.878G>A c.(877-879)gGg>gAg p.G293E NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) AAGAACTCTCCCTACGGCCCC 0.507000 48 34 0 0 0.003610 0 0 ENAH 55740 broad.mit.edu 37 1 225707031 225707031 + Missense_Mutation SNP C C A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:225707031C>A ENST00000366844.2 - 5 1122 c.671G>T c.(670-672)cGg>cTg p.R224L ENAH_ENST00000284563.6_Missense_Mutation_p.R243L|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.R224L NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 224 axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) TTGCCTCTCCCGATCCAGGcg 0.597000 7 183 0.00198382 0.00467706 0.001984 1 0 TSHZ2 128553 broad.mit.edu 37 20 51872769 51872769 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:51872769C>T ENST00000371497.5 + 2 3659 c.2772C>T c.(2770-2772)ccC>ccT p.P924P TSHZ2_ENST00000603338.2_Silent_p.P921P|TSHZ2_ENST00000329613.6_Silent_p.P921P|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 924 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAGGCCACCCCATCTTTTATT 0.478000 18 44 0 0 0.004990 0 0 ADCY3 109 broad.mit.edu 37 2 25057470 25057470 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:25057470G>A ENST00000260600.5 - 10 2702 c.1851C>T c.(1849-1851)gaC>gaT p.D617D ADCY3_ENST00000405392.1_Silent_p.D250D NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 617 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCATCTCGGGGTCCATGAACC 0.577000 59 59 0 0 0.003610 0 0 SIK1 150094 broad.mit.edu 37 21 44841138 44841138 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:44841138G>A ENST00000270162.6 - 6 741 c.609C>T c.(607-609)ccC>ccT p.P203P NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 203 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TGTCCAGCTGGGGGCCTTCAT 0.672000 22 48 0 0 0.001882 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48556297 48556297 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:48556297C>T ENST00000354276.3 - 16 1864 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.E513K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.E523K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.E513K NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 513 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TTCTTGTTTTCCCTGACATTC 0.478000 28 77 0 0 0.001061 0 0 DNAH3 55567 broad.mit.edu 37 16 20970652 20970652 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:20970652C>T ENST00000261383.3 - 54 10674 c.10675G>A c.(10675-10677)Ggc>Agc p.G3559S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3559 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCAATAGGGCCTTGGCCTTGG 0.537000 67 72 0 0 0.003610 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55331421 55331421 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:55331421C>T ENST00000391728.4 + 4 642 c.609C>T c.(607-609)ccC>ccT p.P203P KIR3DL1_ENST00000541392.1_Silent_p.P203P|KIR3DL1_ENST00000538269.1_Silent_p.P203P|KIR3DL1_ENST00000402254.2_Silent_p.P203P|KIR3DL1_ENST00000358178.4_Silent_p.P108P|KIR3DL1_ENST00000326542.7_Silent_p.P203P NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CTCACACCCCCTATCAGTTGT 0.517000 48 153 0 0 0.003610 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355231 70355231 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:70355231C>T ENST00000305107.6 - 3 974 c.928G>A c.(928-930)Ggg>Agg p.G310R UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G174R|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G310R NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 310 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G310W(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACCATCGACCCCAGAGAAAAC 0.388000 24 74 0 0 0.003330 0 0 PPP2CA 5515 broad.mit.edu 37 5 133536105 133536105 + Missense_Mutation SNP A A G TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:133536105A>G ENST00000481195.1 - 5 939 c.659T>C c.(658-660)tTt>tCt p.F220S NM_002715.2 NP_002706.1 protein phosphatase 2, catalytic subunit, alpha isozyme endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCTTGCCCAAAGGTGTAACC 0.463000 14 11 0 0 0.002450 0 0 DNAH3 55567 broad.mit.edu 37 16 20974801 20974801 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:20974801C>T ENST00000261383.3 - 53 10404 c.10405G>A c.(10405-10407)Gga>Aga p.G3469R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3469 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCTCCAATCCTTGAGAGAAC 0.512000 29 28 0 0 0.001061 0 0 PID1 55022 broad.mit.edu 37 2 229890444 229890444 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:229890444G>A ENST00000392054.3 - 4 990 c.651C>T c.(649-651)ttC>ttT p.F217F PID1_ENST00000354069.6_Silent_p.F219F|PID1_ENST00000392055.3_Silent_p.F186F|PID1_ENST00000409462.1_Silent_p.F137F|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 219 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) AAGTCTTCCTGAAGGCCTCCA 0.552000 57 59 0 0 0.003610 0 0 TRERF1 55809 broad.mit.edu 37 6 42237139 42237139 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:42237139C>T ENST00000541110.1 - 5 758 c.190G>A c.(190-192)Ggt>Agt p.G64S TRERF1_ENST00000354325.2_Missense_Mutation_p.G64S|TRERF1_ENST00000372922.4_Missense_Mutation_p.G64S|TRERF1_ENST00000340840.2_Missense_Mutation_p.G64S|TRERF1_ENST00000372917.4_Missense_Mutation_p.G64S Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 64 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AAGCCCAGACCATCCCGTGTA 0.587000 39 96 0 0 0.004878 0 0 KIAA0922 23240 broad.mit.edu 37 4 154557689 154557689 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:154557689C>T ENST00000409663.3 + 35 4843 c.4791C>T c.(4789-4791)ttC>ttT p.F1597F KIAA0922_ENST00000440693.1_Silent_p.F1514F|KIAA0922_ENST00000409959.3_Silent_p.F1598F NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1597 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) ATGCAAATTTCCCACTGTCTA 0.418000 27 60 0 0 0.001271 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18658387 18658387 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:18658387G>A ENST00000433979.1 + 23 3308 c.3192G>A c.(3190-3192)ggG>ggA p.G1064G PIK3C2G_ENST00000266497.5_Silent_p.G1064G|PIK3C2G_ENST00000538779.1_Silent_p.G1105G NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1064 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CATTTGGAGGGATAAAAAGGT 0.368000 7 16 0 0 0.003080 0 0 C7orf26 79034 broad.mit.edu 37 7 6647684 6647684 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:6647684G>A ENST00000344417.5 + 6 1509 c.1242G>A c.(1240-1242)ctG>ctA p.L414L C7orf26_ENST00000359073.5_Silent_p.L317L|C7orf26_ENST00000472693.1_3'UTR NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 414 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) CGCCCCCGCTGGGCTACGGGG 0.726000 6 39 0 0 0.004482 0 0 HERC2 8924 broad.mit.edu 37 15 28369256 28369256 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:28369256G>A ENST00000261609.7 - 85 13223 c.13115C>T c.(13114-13116)tCg>tTg p.S4372L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4372 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) TTCGTCGAGCGAGCCTTCCAG 0.562000 40 27 0 0 0.001706 0 0 CLASRP 11129 broad.mit.edu 37 19 45563722 45563722 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:45563722C>T ENST00000544944.2 + 8 1478 c.786C>T c.(784-786)taC>taT p.Y262Y CLASRP_ENST00000391953.4_Silent_p.Y200Y|CLASRP_ENST00000221455.3_Silent_p.Y262Y Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 262 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 AGGCCATGTACTCGGTGAGGT 0.612000 166 333 0 0 0.003610 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546687 34546687 + Missense_Mutation SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:34546687A>T ENST00000354181.3 - 9 1472 c.980T>A c.(979-981)gTc>gAc p.V327D SLC12A6_ENST00000458406.2_Missense_Mutation_p.V268D|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V268D|SLC12A6_ENST00000397707.2_Missense_Mutation_p.V312D|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V276D|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V139D|SLC12A6_ENST00000560611.1_Missense_Mutation_p.V327D|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V139D|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V318D|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V327D Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 327 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TACCATAAGGACCAAGAAAGC 0.473000 24 20 0 0 0.002299 0 0 FER1L6 654463 broad.mit.edu 37 8 125072424 125072424 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:125072424C>T ENST00000522917.1 + 23 3084 c.2878C>T c.(2878-2880)Cct>Tct p.P960S FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P960S|FER1L6-AS2_ENST00000601180.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 960 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCGGTAGGTTCCTCCTTCTGG 0.547000 137 80 0 0 0.003610 0 0 POLR3A 11128 broad.mit.edu 37 10 79762037 79762037 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:79762037G>A ENST00000372371.3 - 17 2414 c.2277C>T c.(2275-2277)atC>atT p.I759I NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 759 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) CGTGGTCACGGATCACAGACA 0.552000 7 1 0 0 0.001984 0 0 UBXN10 127733 broad.mit.edu 37 1 20517436 20517436 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:20517436G>A ENST00000375099.3 + 2 466 c.382G>A c.(382-384)Gag>Aag p.E128K NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 128 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CCTGGAGGAGGAGGCTGTGGA 0.522000 30 41 0 0 0.001512 0 0 SCD 6319 broad.mit.edu 37 10 102107992 102107992 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:102107992C>T ENST00000370355.2 + 2 580 c.199C>T c.(199-201)Ccc>Tcc p.P67S NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 67 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) AGGCCCAAGCCCCAAGGTTGA 0.458000 61 115 0 0 0.003610 0 0 MUC21 394263 broad.mit.edu 37 6 30955901 30955901 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:30955901C>T ENST00000376296.3 + 3 1872 c.1631C>T c.(1630-1632)cCt>cTt p.P544L MUC21_ENST00000486149.2_Missense_Mutation_p.P90L NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 544 Cytoplasmic tail. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGGTGGAGTCCTAACTGGTTC 0.602000 27 51 0 0 0.001786 0 0 LST3 0 broad.mit.edu 37 12 21174514 21174514 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:21174514G>A ENST00000381541.3 + 4 544 c.479G>A c.(478-480)aGa>aAa p.R160K LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R160K|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.R113K ATAATAGAAAGAGGTAAGAAT 0.249000 3 7 0 0 0.000602 0 0 DYNAP 284254 broad.mit.edu 37 18 52262285 52262285 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:52262285G>A ENST00000321600.1 + 2 297 c.251G>A c.(250-252)gGa>gAa p.G84E DYNAP_ENST00000585973.1_Intron NM_173629.1 NP_775900.1 dynactin associated protein GTGAACCCAGGAATCCTTGCA 0.448000 37 101 0 0 0.002222 0 0 LY9 4063 broad.mit.edu 37 1 160769848 160769848 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:160769848G>A ENST00000263285.5 + 2 460 c.430G>A c.(430-432)Gag>Aag p.E144K LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.E104K|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.E144K|LY9_ENST00000341032.4_Missense_Mutation_p.E144K NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 144 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CACCACTGAGGAGGAATTCAC 0.408000 49 132 0 0 0.003610 0 0 SERPINB11 89778 broad.mit.edu 37 18 61387373 61387373 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr18:61387373C>T ENST00000544088.1 + 0 664 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTTAAAAGTCCTTTTCAGCTA 0.328000 16 22 0 0 0.004990 0 0 KDM5B 10765 broad.mit.edu 37 1 202731857 202731857 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:202731857G>A ENST00000367265.3 - 7 2052 c.888C>T c.(886-888)ccC>ccT p.P296P KDM5B_ENST00000367264.2_Silent_p.P332P NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 296 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ATCGACTCTTGGGCTTTTCCT 0.388000 42 208 0 0 0.003214 0 0 CA6 765 broad.mit.edu 37 1 9011504 9011504 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:9011504C>T ENST00000319474.2 + 3 306 c.282C>T c.(280-282)ctC>ctT p.L94L CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron P23280 CAH6_HUMAN carbonic anhydrase VI 91 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) AACTCTTCCTCCCCTCCTTGT 0.498000 5 23 0 0 0.001984 0 0 MAP4K4 9448 broad.mit.edu 37 2 102490688 102490688 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:102490688C>T ENST00000413150.2 + 22 2580 c.2525C>T c.(2524-2526)tCt>tTt p.S842F MAP4K4_ENST00000347699.4_Missense_Mutation_p.S927F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.S730F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S967F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.S1008F|MAP4K4_ENST00000456652.1_Missense_Mutation_p.S726F|MAP4K4_ENST00000350198.4_Missense_Mutation_p.S846F|MAP4K4_ENST00000425019.1_Missense_Mutation_p.S960F NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 927 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGGTTTAACTCTGAGATTCTG 0.478000 10 12 0 0 0.000673 0 0 PDE1C 5137 broad.mit.edu 37 7 31864516 31864516 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr7:31864516G>A ENST00000396184.3 - 14 1575 c.1371C>T c.(1369-1371)acC>acT p.T457T PDE1C_ENST00000321453.7_Silent_p.T457T|PDE1C_ENST00000396193.1_Silent_p.T517T|PDE1C_ENST00000396182.2_Silent_p.T457T|PDE1C_ENST00000396191.1_Silent_p.T457T NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 457 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CAGTTTGAGAGGTTTCATCGA 0.493000 93 86 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179615439 179615439 + Silent SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:179615439A>T ENST00000360870.5 - 46 11910 c.11688T>A c.(11686-11688)gcT>gcA p.A3896A TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9720 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) TTCTTTCACTAGCTATTTCTT 0.348000 8 14 0 0 0.003080 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 59 0 0 0.001984 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566663 20566663 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:20566663G>A ENST00000329697.6 - 4 692 c.524C>T c.(523-525)cCt>cTt p.P175L ACSM2B_ENST00000565232.1_Missense_Mutation_p.P175L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.P175L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P96L|ACSM2B_ENST00000414188.2_Missense_Mutation_p.P175L NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 175 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCTCAGAGAAGGACATTCAGA 0.453000 67 99 0 0 0.003610 0 0 OGDHL 55753 broad.mit.edu 37 10 50948822 50948822 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr10:50948822G>A ENST00000374103.4 - 16 2159 c.2074C>T c.(2074-2076)Cat>Tat p.H692Y OGDHL_ENST00000419399.1_Missense_Mutation_p.H635Y|OGDHL_ENST00000432695.1_Missense_Mutation_p.H483Y NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 692 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGCCAGAGATGATTCATAGGC 0.637000 25 15 0 0 0.004656 0 0 CHSY3 337876 broad.mit.edu 37 5 129520634 129520634 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:129520634C>T ENST00000305031.4 + 3 2157 c.1799C>T c.(1798-1800)tCt>tTt p.S600F NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 600 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)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) ATATCTAATTCTTTAAAGATA 0.383000 13 3 0 0 0.001368 0 0 IGDCC4 57722 broad.mit.edu 37 15 65688237 65688237 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:65688237G>A ENST00000352385.2 - 7 1471 c.1262C>T c.(1261-1263)gCc>gTc p.A421V NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 421 Ig-like C2-type 4. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CACCACCACGGCCAGCGACGC 0.706000 15 6 0 0 0.003163 0 0 GREB1 9687 broad.mit.edu 37 2 11758601 11758601 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr2:11758601C>T ENST00000381486.2 + 22 3900 c.3600C>T c.(3598-3600)ccC>ccT p.P1200P GREB1_ENST00000396123.1_Silent_p.P198P|GREB1_ENST00000234142.5_Silent_p.P1200P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1200 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CGCCCCAGCCCGACTGTAGCC 0.692000 5 13 0 0 0.000602 0 0 WDR72 256764 broad.mit.edu 37 15 53908292 53908292 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:53908292G>A ENST00000396328.1 - 15 2350 c.2111C>T c.(2110-2112)tCc>tTc p.S704F WDR72_ENST00000557913.1_Missense_Mutation_p.S701F|WDR72_ENST00000559418.1_Missense_Mutation_p.S714F|WDR72_ENST00000360509.5_Missense_Mutation_p.S704F NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 704 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GAATGAACTGGAAGAGTCAAC 0.423000 25 9 0 0 0.003954 0 0 PTHLH 5744 broad.mit.edu 37 12 28116382 28116382 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:28116382C>T ENST00000535992.1 - 3 769 c.423G>A c.(421-423)cgG>cgA p.R141R PTHLH_ENST00000354417.3_Silent_p.R141R|PTHLH_ENST00000545234.1_Silent_p.R141R|PTHLH_ENST00000395868.3_Silent_p.R141R|PTHLH_ENST00000538310.1_Silent_p.R141R|PTHLH_ENST00000395872.1_Silent_p.R141R|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Silent_p.R141R|PTHLH_ENST00000539239.1_Silent_p.R141R P12272 PTHR_HUMAN parathyroid hormone-like hormone 141 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) AGCGAGTTCGCCGTTTTTTCT 0.547000 27 61 0 0 0.001061 0 0 ABO 28 broad.mit.edu 37 9 136131068 136131068 + RNA SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:136131068C>T ENST00000453660.2 - 0 1060 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GGTTCCGGACCGCCTGGTGGT 0.667000 8 7 0 0 0.004482 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035919 36035919 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:36035919G>A ENST00000282507.3 - 7 1554 c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L UGT3A2_ENST00000545528.1_Silent_p.L183L|UGT3A2_ENST00000513300.1_Silent_p.L451L NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 485 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACGTCGAGCAGGTACTGCTCA 0.617000 40 14 0 0 0.001951 0 0 DNAH17 8632 broad.mit.edu 37 17 76446802 76446802 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr17:76446802C>T ENST00000389840.5 - 67 10943 c.10819G>A c.(10819-10821)Gag>Aag p.E3607K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3616K 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) TTGGTGGTCTCCAGATTCTCC 0.607000 27 20 0 0 0.003954 0 0 TJP2 9414 broad.mit.edu 37 9 71866098 71866098 + Missense_Mutation SNP C C T rs148629740 by1000genomes TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:71866098C>T ENST00000377245.4 + 21 3347 c.3139C>T c.(3139-3141)Cgg>Tgg p.R1047W TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.R1078W|TJP2_ENST00000535702.1_Missense_Mutation_p.R1014W NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 1047 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TACCTTTGGGCGGTCTATACT 0.522000 33 85 0 0 0.004289 0 0 KCNT2 343450 broad.mit.edu 37 1 196274467 196274467 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:196274467G>A ENST00000367433.5 - 21 2521 c.2420C>T c.(2419-2421)tCc>tTc p.S807F KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.S831F|KCNT2_ENST00000367431.4_Missense_Mutation_p.S757F Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 831 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACTGAGACTGGAAAACAACCT 0.363000 18 22 0 0 0.006122 0 0 HOMER2 9455 broad.mit.edu 37 15 83527871 83527871 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr15:83527871C>T ENST00000304231.8 - 5 629 c.437G>A c.(436-438)gGg>gAg p.G146E HOMER2_ENST00000399166.2_Missense_Mutation_p.G135E|HOMER2_ENST00000426485.1_Missense_Mutation_p.G146E|HOMER2_ENST00000450735.2_Missense_Mutation_p.G135E NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 146 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 ATCGTCCGTCCCGTTGACACT 0.517000 151 53 0 0 0.003610 0 0 SNHG12 85028 broad.mit.edu 37 1 28905160 28905160 + RNA SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:28905160G>A ENST00000488745.1 - 0 1257 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA AAATGACCGGGGTCCTTGCCT 0.413000 22 45 0 0 0.001523 0 0 NCR1 9437 broad.mit.edu 37 19 55420724 55420724 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:55420724G>A ENST00000594765.1 + 4 501 c.476G>A c.(475-477)gGa>gAa p.G159E NCR1_ENST00000357397.5_Missense_Mutation_p.G52E|NCR1_ENST00000338835.5_Missense_Mutation_p.G159E|NCR1_ENST00000350790.5_Missense_Mutation_p.G64E|NCR1_ENST00000598576.1_Missense_Mutation_p.G147E|NCR1_ENST00000447255.1_Missense_Mutation_p.G159E|NCR1_ENST00000291890.4_Missense_Mutation_p.G159E O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 159 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CTCAAGGAGGGAAGATCCAGC 0.582000 38 46 0 0 0.001485 0 0 RBFOX1 54715 broad.mit.edu 37 16 7629881 7629881 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:7629881C>T ENST00000340209.4 + 3 685 c.388C>T c.(388-390)Ccc>Tcc p.P130S RBFOX1_ENST00000311745.5_Missense_Mutation_p.P145S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P145S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.P125S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P168S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P160S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P125S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P145S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P125S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P168S Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 125 RRM. 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 CTCCAATATCCCCTTCAGGTT 0.557000 23 43 0 0 0.001882 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736577 26736577 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:26736577G>A ENST00000529632.2 + 10 2387 c.2191G>A c.(2191-2193)Gga>Aga p.G731R SEZ6L_ENST00000248933.6_Missense_Mutation_p.G731R|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G504R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G731R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G731R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G731R|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G504R NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 731 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AAAGGGCCAGGGATTTATCAT 0.463000 19 60 0 0 0.001882 0 0 CNOT1 23019 broad.mit.edu 37 16 58622709 58622709 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:58622709G>A ENST00000317147.5 - 3 536 c.204C>T c.(202-204)ttC>ttT p.F68F CNOT1_ENST00000569240.1_Silent_p.F68F|CNOT1_ENST00000441024.2_Silent_p.F68F NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 68 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATACCTGATGGAAATCTTTGC 0.423000 8 6 0 0 0.000443 0 0 HRASLS 57110 broad.mit.edu 37 3 192973467 192973467 + Missense_Mutation SNP A A T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:192973467A>T ENST00000264735.2 + 2 437 c.343A>T c.(343-345)Aac>Tac p.N115Y HRASLS_ENST00000602513.1_Missense_Mutation_p.N10Y NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 10 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) CTTCAGTTTGAACTACCCTGG 0.443000 7 96 0 0 0.001984 0 0 PITPNM2 57605 broad.mit.edu 37 12 123519098 123519098 + Missense_Mutation SNP C C T rs140068156 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr12:123519098C>T ENST00000280562.5 - 2 245 c.40G>A c.(40-42)Gtg>Atg p.V14M PITPNM2_ENST00000542749.1_Missense_Mutation_p.V14M|PITPNM2_ENST00000546049.1_Missense_Mutation_p.V14M|PITPNM2_ENST00000392428.1_Missense_Mutation_p.V14M|PITPNM2_ENST00000320201.4_Missense_Mutation_p.V14M|PITPNM2_ENST00000451868.2_5'UTR Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 14 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TACTCCTCCACGGTCATTGGC 0.572000 19 51 0 0 0.001216 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32570044 32570044 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr3:32570044C>T ENST00000273130.4 - 12 1459 c.1356G>A c.(1354-1356)ttG>ttA p.L452L DYNC1LI1_ENST00000432458.2_Silent_p.L336L NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 452 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 TCTTTTTACTCAACAAACTGT 0.448000 15 41 0 0 0.003163 0 0 ZNF366 167465 broad.mit.edu 37 5 71740006 71740006 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:71740006G>A ENST00000318442.5 - 5 2302 c.1812C>T c.(1810-1812)ttC>ttT p.F604F NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 604 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) CGTCTGACTGGAACACCGGCA 0.657000 97 45 0 0 0.003610 0 0 SEC16A 9919 broad.mit.edu 37 9 139345792 139345792 + Silent SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:139345792C>T ENST00000313050.7 - 21 6301 c.6228G>A c.(6226-6228)acG>acA p.T2076T SEC16A_ENST00000290037.6_Silent_p.T1898T|SEC16A_ENST00000431893.2_Silent_p.T1898T|SEC16A_ENST00000371706.3_Silent_p.T1898T NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1898 Pro-rich.|Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GAGGTGGCTGCGTGGGACCCG 0.617000 12 18 0 0 0.000978 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628247 173628247 + Missense_Mutation SNP T T C TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr1:173628247T>C ENST00000333279.2 - 2 371 c.311A>G c.(310-312)aAt>aGt p.N104S NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 120 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 GGTTTTTTCATTCAGATTCAC 0.353000 22 106 0 0 0.001882 0 0 ZNF217 7764 broad.mit.edu 37 20 52198478 52198478 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr20:52198478G>A ENST00000371471.2 - 2 1313 c.888C>T c.(886-888)ttC>ttT p.F296F ZNF217_ENST00000302342.3_Silent_p.F296F O75362 ZN217_HUMAN zinc finger protein 217 296 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GCCAAGCCTGGAAGGTGGTGA 0.527000 59 120 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13911564 13911564 + Silent SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:13911564G>A ENST00000265104.4 - 12 1679 c.1575C>T c.(1573-1575)ttC>ttT p.F525F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 525 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTGGTCTAGGAAATTGTATT 0.308000 Kartagener syndrome 42 23 0 0 0.003610 0 0 RP1L1 94137 broad.mit.edu 37 8 10469740 10469740 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr8:10469740C>T ENST00000382483.3 - 4 2091 c.1868G>A c.(1867-1869)gGa>gAa p.G623E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 623 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGAAGAGGCTCCTTCCGAGTC 0.647000 87 23 0 0 0.003610 0 0 DHX15 1665 broad.mit.edu 37 4 24556366 24556368 + In_Frame_Del DEL AAG AAG - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr4:24556366_24556368delAAG ENST00000336812.4 - 5 1216_1218 c.1060_1062delCTT c.(1060-1062)del p.L354del NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 354 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CAGTTAAGAAAAGAAGAAGATCT 0.340 30 108 --- --- --- --- MAST4 375449 broad.mit.edu 37 5 65892767 65892768 + In_Frame_Ins INS - - GCC TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr5:65892767_65892768insGCC ENST00000404260.3 + 1 592_593 c.284_285insGCC c.(283-285)ccc>cGCCcc p.94_95insR MAST4_ENST00000403625.2_In_Frame_Ins_p.94_95insR|MAST4_ENST00000406374.1_In_Frame_Ins_p.94_95insR|MAST4_ENST00000406039.1_In_Frame_Ins_p.94_95insR O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 94 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GTCCTTGCGCTGCCGCCGCCGC 0.792 6 1 --- --- --- --- VARS 7407 broad.mit.edu 37 6 31762891 31762915 + Frame_Shift_Del DEL CCTCCCCATCCGGGACCCTCCCCAG CCTCCCCATCCGGGACCCTCCCCAG - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:31762891_31762915delCCTCCCCATCCGGGACCCTCCCCAG ENST00000375663.3 - 2 520_544 c.80_104delCTGGGGAGGGTCCCGGATGGGGAGG c.(79-105)gafs p.AGEGPGWGG27fs VARS_ENST00000444930.2_Intron NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 27 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGGGTGGGCTCCTCCCCATCCGGGACCCTCCCCAGCCTCCCCATA 0.684 33 274 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - - GCG rs72369323 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr6:43970503_43970504insGCG ENST00000336600.5 + 4 389_390 c.369_370insGCG c.(367-372)cgcggc>cgGCGcggc p.123_124insR C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 123 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.777 7 18 --- --- --- --- LINC00475 158314 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 3 4 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131022359 131022379 + In_Frame_Del DEL TCCTTCAGCTCGCTCAGCTTC TCCTTCAGCTCGCTCAGCTTC - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr9:131022359_131022379delTCCTTCAGCTCGCTCAGCTTC ENST00000421699.2 - 18 1779_1799 c.1767_1787delGAAGCTGAGCGAGCTGAAGGA c.(1765-1788)gaa>ga p.EKLSELKE589del NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 589 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GGTTACCGTTTCCTTCAGCTCGCTCAGCTTCTCCTGCAGCT 0.629 33 99 --- --- --- --- FOLH1 2346 broad.mit.edu 37 11 49168447 49168447 + Frame_Shift_Del DEL A A - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:49168447delA ENST00000340334.7 - 20 2437 c.2069delT c.(2068-2070)tcfs p.F690fs FOLH1_ENST00000356696.3_Frame_Shift_Del_p.F674fs|FOLH1_ENST00000343844.4_Frame_Shift_Del_p.F397fs|FOLH1_ENST00000256999.2_Frame_Shift_Del_p.F705fs|FOLH1_ENST00000533034.1_Frame_Shift_Del_p.F659fs NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 705 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AATTCCTGGGAATGACTCCCC 0.433 42 27 --- --- --- --- TMEM225 338661 broad.mit.edu 37 11 123753892 123753892 + Frame_Shift_Del DEL A A - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr11:123753892delA ENST00000375026.2 - 4 847 c.631delT c.(631-633)ccfs p.S211fs NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 211 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TTGTTTAGGGAATTCACAGTG 0.398 43 35 --- --- --- --- SEC14L5 9717 broad.mit.edu 37 16 5055987 5055987 + Frame_Shift_Del DEL G G - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr16:5055987delG ENST00000251170.7 + 12 1555 c.1375delG c.(1375-1377)gafs p.G460fs NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 460 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CCAGGGACCCGGAGGCCTTGT 0.537 12 23 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 4 5 --- --- --- --- ICAM1 3383 broad.mit.edu 37 19 10395189 10395214 + Frame_Shift_Del DEL CCAGCCCAGCCACTGGGCCCGAGGGC CCAGCCCAGCCACTGGGCCCGAGGGC - rs1801714 byFrequency TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr19:10395189_10395214delCCAGCCCAGCCACTGGGCCCGAGGGC ENST00000264832.3 + 5 1361_1386 c.1036_1061delCCAGCCCAGCCACTGGGCCCGAGGGC c.(1036-1062)cfs p.PAQPLGPRA346fs ICAM1_ENST00000423829.2_Frame_Shift_Del_p.PAQPLGPRA124fs|CTD-2369P2.5_ENST00000592893.1_RNA NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 346 Ig-like C2-type 4. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GAATGGGGTTCCAGCCCAGCCACTGGGCCCGAGGGCCCAGCTCCTG 0.628 12 108 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89875e3e-979f-415f-8b5a-6eb72c2efda2 a2223f1c-ac5f-4f20-9d06-89cd36f262ee g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 7 139 --- --- --- ---