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 PCDHB17P 54661 broad.mit.edu 37 5 140536963 140536963 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140536963G>A ENST00000539533.1 + 1 1387 c.1387G>A c.(1387-1389)Gag>Aag p.E463K GTTCGTCCGCGAGAACAACAG 0.612000 52 169 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130929789 130929789 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:130929789C>T ENST00000261655.4 - 7 719 c.556G>A c.(556-558)Gag>Aag p.E186K RIMBP2_ENST00000535703.1_Missense_Mutation_p.E94K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E94K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 186 SH3 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGGGGTTCTCGTTCGGTCCA 0.542000 28 62 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35044942 35044942 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:35044942G>A ENST00000290374.4 - 2 1179 c.703C>T c.(703-705)Ccc>Tcc p.P235S NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 235 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TTGATGCAGGGGTAGCGGTTA 0.478000 18 47 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3784083 3784083 + Silent SNP C C T rs141229949 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:3784083C>T ENST00000245960.5 + 14 2086 c.1389C>T c.(1387-1389)gcC>gcT p.A463A CDC25B_ENST00000439880.2_Silent_p.A449A|CDC25B_ENST00000340833.4_Silent_p.A422A|CDC25B_ENST00000379598.5_Silent_p.A372A|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.A399A NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 463 Rhodanese. cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 AACGCGACGCCGAGAGCTTCC 0.627000 26 59 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107450511 107450511 + Silent SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:107450511A>G ENST00000409382.3 - 3 1645 c.1035T>C c.(1033-1035)aaT>aaC p.N345N ST6GAL2_ENST00000361686.4_Silent_p.N345N|ST6GAL2_ENST00000409087.3_Silent_p.N345N NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 345 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TTACCTGCGAATTAATGATGC 0.398000 21 111 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11407720 11407720 + Missense_Mutation SNP C C A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:11407720C>A ENST00000259089.4 + 6 1013 c.421C>A c.(421-423)Cca>Aca p.P141T BLK_ENST00000529894.1_Missense_Mutation_p.P70T NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 141 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) GCTTCTTGCTCCAATCAACAA 0.552000 20 65 1.96895e-08 1.98747e-08 1 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204228404 204228404 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:204228404G>A ENST00000272203.3 - 8 1305 c.989C>T c.(988-990)cCg>cTg p.P330L PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P350L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 330 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GTCTTCAGGCGGGGGTACCCC 0.617000 17 57 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36269880 36269880 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:36269880G>A ENST00000394571.2 + 6 1018 c.1018G>A c.(1018-1020)Gag>Aag p.E340K PNPLA1_ENST00000388715.3_Missense_Mutation_p.E245K|PNPLA1_ENST00000312917.5_Missense_Mutation_p.E254K NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 340 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 ATTCACATGCGAGTCACCTGT 0.557000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 101 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103291146 103291146 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:103291146G>A ENST00000520539.1 - 44 6802 c.6196C>T c.(6196-6198)Ctt>Ttt p.L2066F UBR5_ENST00000521922.1_Missense_Mutation_p.L2060F|UBR5_ENST00000220959.4_Missense_Mutation_p.L2066F NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2066 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.L2066F(1) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CGGCCAAAAAGATCCTCCTTT 0.363000 79 211 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23825111 23825111 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:23825111C>T ENST00000354639.3 + 18 2558 c.2094C>T c.(2092-2094)ctC>ctT p.L698L STK31_ENST00000428484.1_Silent_p.L698L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.L721L|STK31_ENST00000433467.2_Silent_p.L721L NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 721 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTGGTGGTCTCCTTACAATGA 0.393000 49 147 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144862 25144862 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:25144862G>A ENST00000453498.1 + 0 403 GCCAGATAATGGAGCAGTGGT 0.408000 6 43 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541097 12541097 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:12541097G>A ENST00000301547.5 - 4 2086 c.1889C>T c.(1888-1890)tCc>tTc p.S630F CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 630 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TCTATGCAAGGAACTGAGAGA 0.403000 28 128 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137622874 137622874 + Missense_Mutation SNP A A C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:137622874A>C ENST00000323760.6 - 11 1288 c.1010T>G c.(1009-1011)cTg>cGg p.L337R CDC25C_ENST00000356505.3_Missense_Mutation_p.L307R|CDC25C_ENST00000348983.3_Missense_Mutation_p.L264R|CDC25C_ENST00000415130.2_Missense_Mutation_p.L264R|CDC25C_ENST00000357274.3_Missense_Mutation_p.L294R|CDC25C_ENST00000514555.1_Missense_Mutation_p.L307R|CDC25C_ENST00000513970.1_Missense_Mutation_p.L337R NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 337 HIV-1 Vpr binding site.|Rhodanese. cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GTGTCCTCCCAGATACTCATA 0.473000 15 59 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55361005 55361005 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:55361005C>T ENST00000449076.1 - 5 404 c.272G>A c.(271-273)gGg>gAg p.G91E TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.G91E|TESPA1_ENST00000531122.1_5'UTR NM_001136030.2 NP_001129502.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 91 AAAGCTGGTCCCATGGCTGCA 0.483000 5 21 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48741355 48741355 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:48741355G>A ENST00000285238.8 + 10 1301 c.1221G>A c.(1219-1221)ggG>ggA p.G407G ABCC3_ENST00000427699.1_Silent_p.G407G NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 407 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCACTGTGGGGGAAATTGTCA 0.572000 16 78 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229375 90229375 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:90229375C>T ENST00000390278.2 + 0 215 CAGGGAAATCCCCTAAGCTCT 0.493000 7 88 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123010131 123010131 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:123010131G>A ENST00000462833.1 - 18 4368 c.3156C>T c.(3154-3156)ttC>ttT p.F1052F ADCY5_ENST00000491190.1_Silent_p.F710F|ADCY5_ENST00000309879.5_Silent_p.F702F NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1052 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CGCGGGCCAGGAAGTGAGCGG 0.597000 26 59 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68406070 68406070 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:68406070C>T ENST00000219334.5 - 3 618 c.15G>A c.(13-15)acG>acA p.T5T SMPD3_ENST00000568373.1_Silent_p.T5T|SMPD3_ENST00000563226.1_Silent_p.T5T NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 5 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GAAAGGGGGTCGTGTACAAAA 0.627000 4 17 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 4 37 0 0 1 0 0 IL7 3574 broad.mit.edu 37 8 79710406 79710406 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:79710406G>A ENST00000263851.4 - 2 648 c.48C>T c.(46-48)atC>atT p.I16I IL7_ENST00000520269.1_Silent_p.I16I|IL7_ENST00000379113.2_Silent_p.I16I NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 16 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 ACAGAACAAGGATCAGGGGAG 0.358000 34 53 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769090 88769090 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:88769090C>T ENST00000444431.1 + 0 3690 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTTGGGAGTCCTCATGTGTAT 0.557000 128 188 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281742 140281742 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:140281742C>T ENST00000458420.3 + 14 2492 c.2302C>T c.(2302-2304)Cgg>Tgg p.R768W NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 768 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.R768W(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCGGCGTTTCCGGATTAAGTG 0.567000 HNSCC(16;0.037) 20 48 0 0 1 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107012978 107012978 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:107012978C>T ENST00000390625.2 - 0 396 GGTTTTCAGGCTGTTCATTTG 0.507000 52 134 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74842229 74842229 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:74842229G>A ENST00000290536.5 - 3 404 c.288C>T c.(286-288)ctC>ctT p.L96L M1AP_ENST00000409585.1_Silent_p.L96L|M1AP_ENST00000536235.1_Silent_p.L96L|M1AP_ENST00000358434.2_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein p.L96L(1) GTAACATGCGGAGTTCTGAGA 0.473000 31 121 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27677285 27677285 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:27677285C>T ENST00000260570.3 - 32 3569 c.3465_splice c.e32-1 p.G1156_splice NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1156 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCGAATTTACCCTACAGGGAG 0.522000 20 89 0 0 1 0 0 IFNL1 282618 broad.mit.edu 37 19 39788664 39788664 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:39788664G>A ENST00000333625.2 + 3 407 c.310G>A c.(310-312)Gcc>Acc p.A104T NM_172140.1 NP_742152.1 interferon, lambda 1 GGTCCTGGAGGCCGCTGCTGG 0.662000 10 56 0 0 1 0 0 EVI2A 2123 broad.mit.edu 37 17 29645707 29645707 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:29645707T>A ENST00000247270.3 - 3 730 c.394A>T c.(394-396)Agc>Tgc p.S132C CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.E48V|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.S109C|EVI2A_ENST00000461237.1_Missense_Mutation_p.S109C|NF1_ENST00000581113.2_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 109 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTTTCAATGCTCTGTACTGTT 0.363000 54 143 0 0 1 0 0 TSR3 115939 broad.mit.edu 37 16 1400180 1400180 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:1400180G>A ENST00000007390.2 - 4 688 c.582C>T c.(580-582)ttC>ttT p.F194F NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) TCAGGTCCAAGAAGCCCTTGC 0.587000 15 28 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171510756 171510756 + Missense_Mutation SNP T T G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:171510756T>G ENST00000367742.3 + 16 4393 c.4151T>G c.(4150-4152)gTt>gGt p.V1384G PRRC2C_ENST00000338920.4_Missense_Mutation_p.V1382G|PRRC2C_ENST00000426496.2_Missense_Mutation_p.V1382G|PRRC2C_ENST00000392078.3_Missense_Mutation_p.V1384G Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1382 Arg-rich. protein C-terminus binding CAGTCAGAAGTTCCTAAACCA 0.498000 15 23 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018857 143018857 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:143018857G>A ENST00000343257.2 + 5 699 c.612G>A c.(610-612)aaG>aaA p.K204K CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 204 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TTGTCCTGAAGGAATACCTCA 0.532000 23 86 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41930426 41930426 + Silent SNP C C T rs147021347 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:41930426C>T ENST00000269980.2 + 9 1619 c.1251C>T c.(1249-1251)ccC>ccT p.P417P CTC-435M10.3_ENST00000540732.1_Silent_p.P451P|BCKDHA_ENST00000457836.2_Silent_p.P420P|BCKDHA_ENST00000595085.1_Silent_p.P451P NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 417 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding p.P417P(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 AGGAGATGCCCGCCCAGCTCC 0.617000 36 99 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45003884 45003884 + Silent SNP C C A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:45003884C>A ENST00000372176.1 - 13 1260 c.792G>T c.(790-792)ctG>ctT p.L264L ELMO2_ENST00000454865.2_Silent_p.L84L|ELMO2_ENST00000396391.1_Silent_p.L352L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.L364L|ELMO2_ENST00000290246.6_Silent_p.L352L|ELMO2_ENST00000352077.2_Silent_p.L350L|ELMO2_ENST00000445496.2_Silent_p.L169L Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 352 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CGGTAAATCCCAGCATTTTGT 0.527000 25 74 6.32553e-13 6.4109e-13 1 1 0 ATL1 51062 broad.mit.edu 37 14 51094855 51094855 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:51094855G>A ENST00000441560.2 + 13 1707 c.1226G>A c.(1225-1227)gGt>gAt p.G409D ATL1_ENST00000358385.6_Missense_Mutation_p.G409D|ATL1_ENST00000357032.3_Missense_Mutation_p.G409D|ATL1_ENST00000354525.4_Missense_Mutation_p.G409D NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 409 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 AAGAAGATGGGTGGGGAAGAA 0.438000 14 77 0 0 1 0 0 ZNF736 728927 broad.mit.edu 37 7 63809491 63809491 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:63809491G>A ENST00000355095.4 + 5 1572 c.1250G>A c.(1249-1251)aGa>aAa p.R417K ZNF736_ENST00000423484.1_Missense_Mutation_p.R417K NM_001170905.1 NP_001164376.1 B4DX44 ZN736_HUMAN zinc finger protein 736 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 AGACATAAGAGAATTCATACT 0.383000 7 12 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2830821 2830821 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:2830821C>T ENST00000520002.1 - 58 9299 c.8743_splice c.e58-1 p.G2915_splice CSMD1_ENST00000537824.1_Splice_Site_p.G2914_splice|CSMD1_ENST00000602723.1_Splice_Site_p.G2857_splice|CSMD1_ENST00000542608.1_Splice_Site_p.G2856_splice|CSMD1_ENST00000400186.3_Splice_Site_p.G2857_splice|CSMD1_ENST00000602557.1_Splice_Site_p.G2915_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2915 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGATTATTTCCTATTGAAAA 0.413000 66 203 0 0 1 0 0 RABAC1 10567 broad.mit.edu 37 19 42461187 42461187 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:42461187G>A ENST00000222008.6 - 4 549 c.452C>T c.(451-453)gCc>gTc p.A151V RABAC1_ENST00000601891.1_Intron|RABAC1_ENST00000601078.1_Missense_Mutation_p.A57V NM_006423.2 NP_006414.2 Q9UI14 PRAF1_HUMAN Rab acceptor 1 (prenylated) 151 cell junction|Golgi apparatus|integral to membrane|synaptic vesicle identical protein binding central_nervous_system(1)|kidney(1)|prostate(1) 3 CCAGAAGACGGCCGAGCCCGC 0.657000 8 60 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431315 56431315 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:56431315G>A ENST00000302969.2 + 1 178 c.154G>A c.(154-156)Gac>Aac p.D52N NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GATTACAACAGACACTCAGCT 0.473000 53 245 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108697741 108697741 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:108697741G>A ENST00000565488.1 - 6 905 c.686C>T c.(685-687)tCa>tTa p.S229L SLC25A24_ENST00000370041.4_Missense_Mutation_p.S210L NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 229 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) CATTTTGTCTGATTTTGAACC 0.358000 28 62 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816406 156816406 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:156816406C>T ENST00000347377.6 + 29 3848 c.3417C>T c.(3415-3417)atC>atT p.I1139I CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.I1139I|CYFIP2_ENST00000541131.1_Silent_p.I1064I|CYFIP2_ENST00000318218.6_Silent_p.I1164I|CYFIP2_ENST00000522463.1_Silent_p.I943I|CYFIP2_ENST00000435847.2_Silent_p.I838I|CYFIP2_ENST00000521420.1_Silent_p.I1113I NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1164 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTACTGCATCCCTGTGGGAA 0.622000 7 22 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99709601 99709601 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:99709601T>A ENST00000344095.4 - 8 1267 c.742A>T c.(742-744)Acg>Tcg p.T248S TAF6_ENST00000452041.1_Missense_Mutation_p.T248S|TAF6_ENST00000472509.1_Missense_Mutation_p.T305S|TAF6_ENST00000453269.2_Missense_Mutation_p.T248S|TAF6_ENST00000437822.2_Missense_Mutation_p.T285S|TAF6_ENST00000418432.2_Missense_Mutation_p.T172S NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 248 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCAGGGTCCGTGGCAATGCTT 0.602000 13 33 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119929368 119929368 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:119929368G>A ENST00000361035.4 + 6 1007 c.724G>A c.(724-726)Gat>Aat p.D242N HAO2_ENST00000325945.3_Missense_Mutation_p.D229N NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 229 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GACAAAAGAGGATGCAGAGTT 0.458000 66 98 0 0 1 0 0 ZNF790 388536 broad.mit.edu 37 19 37309877 37309877 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:37309877T>C ENST00000356725.4 - 5 1489 c.1369A>G c.(1369-1371)Aag>Gag p.K457E CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGAAAGGTCTTTCCACATTCC 0.383000 21 122 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49079245 49079245 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:49079245C>T ENST00000323090.4 + 1 449 c.74C>T c.(73-75)cCc>cTc p.P25L SULT2B1_ENST00000201586.2_Missense_Mutation_p.P40L NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 40 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) GTCCCCTTCCCCGTCGGCCTG 0.592000 38 91 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134217268 134217268 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:134217268T>C ENST00000535456.2 + 5 687 c.499T>C c.(499-501)Ttc>Ctc p.F167L GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.F167L|GLB1L2_ENST00000339772.7_Missense_Mutation_p.F167L NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 167 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TTACAAGGGCTTCACCGAAGC 0.507000 53 252 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060381 9060381 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9060381A>G ENST00000397910.4 - 3 27268 c.27065T>C c.(27064-27066)gTt>gCt p.V9022A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9024 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 CTTGTAAGGAACAGTGCTTGG 0.517000 13 90 0 0 1 0 0 PCYT1B 9468 broad.mit.edu 37 X 24608226 24608226 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:24608226C>T ENST00000379145.1 - 4 390 c.346G>A c.(346-348)Gaa>Aaa p.E116K PCYT1B_ENST00000356768.4_Missense_Mutation_p.E134K|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Missense_Mutation_p.E134K NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 134 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) CTGAGAGCTTCGTATCTCTCG 0.443000 4 37 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8607335 8607335 + Splice_Site SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:8607335T>C ENST00000157600.3 + 5 1171 c.e5+2 LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TGCGATGAGGTGGGAGATAGC 0.607000 3 11 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121658222 121658222 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:121658222G>A ENST00000489711.1 + 20 2176 c.1788G>A c.(1786-1788)tgG>tgA p.W596* SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.W565* NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 596 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTCAGGCCTGGAAGATTGAAG 0.448000 36 81 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233394675 233394675 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:233394675C>T ENST00000258385.3 + 7 678 c.646C>T c.(646-648)Cgg>Tgg p.R216W CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Missense_Mutation_p.R201W|CHRND_ENST00000536614.1_Missense_Mutation_p.P179L NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 216 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GATAGTCCACCGGCCGGCCAG 0.647000 13 72 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910774 108910774 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:108910774C>T ENST00000326853.5 + 3 694 c.241C>T c.(241-243)Cct>Tct p.P81S SULT1C2_ENST00000409880.1_Missense_Mutation_p.P81S|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P81S|SULT1C2_ENST00000437390.2_Missense_Mutation_p.P81S NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 81 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 ACACCGCCATCCTTTCATTGA 0.527000 20 111 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 705456 705456 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:705456C>T ENST00000549091.1 + 15 1798 c.1706C>T c.(1705-1707)tCg>tTg p.S569L LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.S569L NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 569 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCGGAGCCCTCGGCTGCCATG 0.721000 4 6 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6714080 6714080 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:6714080G>A ENST00000245907.6 - 7 788 c.696C>T c.(694-696)ttC>ttT p.F232F NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 232 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTATGACCTCGAAACTGGGCA 0.622000 14 70 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155861154 155861154 + Missense_Mutation SNP G G C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:155861154G>C ENST00000471742.1 + 1 404 c.187G>C c.(187-189)Gtt>Ctt p.V63L KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron NM_003471.3 NP_003462.2 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 74 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GTTTCTACGTGTTCATGGAAT 0.527000 16 115 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176467 223176467 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:223176467C>T ENST00000284476.6 + 8 1892 c.1728C>T c.(1726-1728)gtC>gtT p.V576V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 576 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ATGCTTTTGTCCTGTGTGATG 0.413000 36 129 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70486792 70486792 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:70486792G>A ENST00000310961.5 + 17 1844 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Silent_p.T2T|LRRC7_ENST00000035383.5_Missense_Mutation_p.E471K Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 471 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGAAGATGACGAAAATGCTGG 0.388000 21 71 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4511034 4511034 + Missense_Mutation SNP C C T rs144863882 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:4511034C>T ENST00000307632.3 + 1 926 c.904C>T c.(904-906)Cgt>Tgt p.R302C NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAGCAGATTCGTGAGTATGT 0.433000 27 107 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481834 142481834 + RNA SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142481834T>C ENST00000603901.1 + 0 513 NR_001296.3 AGGCTAAGTGTAAAGCCTCCT 0.512000 11 211 0 0 1 0 0 NDUFB2 4708 broad.mit.edu 37 7 140404690 140404690 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140404690T>C ENST00000476279.1 + 3 348 c.274T>C c.(274-276)Tgg>Cgg p.W92R NDUFB2_ENST00000460088.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000475276.1_Missense_Mutation_p.W65R|NDUFB2_ENST00000465506.1_Missense_Mutation_p.W92R|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.W82R|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000247866.4_Missense_Mutation_p.W92R|NDUFB2_ENST00000476470.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000472695.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000482954.1_Missense_Mutation_p.W28R|NDUFB2_ENST00000471136.1_Missense_Mutation_p.W80R O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa 92 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1) 10 Melanoma(164;0.00956) NADH(DB00157) TCCTTCCCAGTGGACAGATGA 0.393000 29 106 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68241765 68241765 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:68241765G>A ENST00000347230.4 - 27 5426 c.5288C>T c.(5287-5289)cCa>cTa p.P1763L ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1763L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1763 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTCTGCTGATGGTGATCTAGG 0.443000 3 17 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47541893 47541893 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:47541893G>A ENST00000359314.5 + 6 1091 c.635G>A c.(634-636)cGa>cAa p.R212Q NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 212 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AAGAAAATTCGAGGAATTGGA 0.408000 41 110 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38600990 38600990 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:38600990G>A ENST00000222345.6 + 8 2766 c.2257G>A c.(2257-2259)Gtc>Atc p.V753I NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 753 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CATTGTCCGAGTCCACAACCC 0.597000 11 42 0 0 1 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560112 36560112 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:36560112G>A ENST00000373461.4 + 2 444 c.197G>A c.(196-198)gGc>gAc p.G66D VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.G66D NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 66 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) TCCTTCCGCGGCAGCGGCTCC 0.622000 42 128 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 816934 816934 + Missense_Mutation SNP G G A rs34926266 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:816934G>A ENST00000566549.1 + 14 1840 c.1423G>A c.(1423-1425)Gtc>Atc p.V475I MSLN_ENST00000563941.1_Missense_Mutation_p.V475I|MSLN_ENST00000545450.2_Missense_Mutation_p.V475I|MSLN_ENST00000382862.3_Missense_Mutation_p.V483I Q13421 MSLN_HUMAN mesothelin 483 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GCAGCTGGACGTCCTCTATCC 0.637000 5 77 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557578 36557578 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:36557578C>T ENST00000373178.4 + 4 614 c.584C>T c.(583-585)gCc>gTc p.A195V NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 195 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) ATCCTGCAGGCCCTGGCTGTG 0.632000 17 61 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48482738 48482738 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:48482738G>A ENST00000004980.5 - 5 704 c.226C>T c.(226-228)Cct>Tct p.P76S SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.P76S|SENP1_ENST00000549595.1_Missense_Mutation_p.P76S|SENP1_ENST00000339976.6_Silent_p.I151I|SENP1_ENST00000551330.1_Missense_Mutation_p.P76S|SENP1_ENST00000549518.1_Missense_Mutation_p.P76S Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 76 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TCTGAGGAAGGATTATCTAAA 0.378000 6 9 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283655 159283655 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:159283655G>A ENST00000332217.5 - 1 794 c.795C>T c.(793-795)tcC>tcT p.S265S NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGGAACTCTGGGACTTAGGCT 0.532000 53 105 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81295874 81295874 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:81295874G>A ENST00000258168.2 + 4 918 c.457G>A c.(457-459)Gaa>Aaa p.E153K BCMO1_ENST00000564552.1_Missense_Mutation_p.E153K|BCMO1_ENST00000425577.2_Missense_Mutation_p.E84K NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 153 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 ACAGACTCTGGAAACCCTGGA 0.507000 32 113 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858758 38858758 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:38858758C>T ENST00000409235.3 + 26 3116 c.3001C>T c.(3001-3003)Cac>Tac p.H1001Y CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.H961Y NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1001 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CATCATGTCCCACGAGAGCCC 0.602000 6 108 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36235044 36235044 + Missense_Mutation SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:36235044G>T ENST00000412391.2 - 6 364 c.351C>A c.(349-351)ttC>ttA p.F117L AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.F78L|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.F78L Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 117 RRM. mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCCCTCCGGAACTGCAGGA 0.572000 8 32 0.000157383 0.000157593 1 1 0 TPTE 7179 broad.mit.edu 37 21 10914379 10914379 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:10914379G>A ENST00000298232.7 - 20 1653 c.1286C>T c.(1285-1287)tCa>tTa p.S429L TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 447 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTCCTAATGAAATAGTGGA 0.328000 7 81 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072508 9072508 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9072508G>A ENST00000397910.4 - 3 15141 c.14938C>T c.(14938-14940)Cct>Tct p.P4980S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4982 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 GCCCCATGAGGACCTGTTTGG 0.473000 40 67 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155526125 155526125 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:155526125G>A ENST00000404648.3 - 9 1462 c.1223C>T c.(1222-1224)aCc>aTc p.T408I FGG_ENST00000407946.1_Missense_Mutation_p.T416I|FGG_ENST00000405164.1_Missense_Mutation_p.T416I|FGG_ENST00000336098.3_Missense_Mutation_p.T408I NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 408 Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTTCATAGTGGTTTTCTTCAT 0.463000 49 87 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195501064 195501064 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195501064G>A ENST00000463781.3 - 4 13515 c.13056C>T c.(13054-13056)tcC>tcT p.S4352S MUC4_ENST00000346145.4_Silent_p.S116S|MUC4_ENST00000349607.4_Silent_p.S65S|MUC4_ENST00000475231.1_Silent_p.S4352S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1109 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) CACGGAGAGAGGAGCCAAGGG 0.662000 7 25 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53044632 53044632 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:53044632G>A ENST00000276480.7 - 22 3235 c.2552C>T c.(2551-2553)cCt>cTt p.P851L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 851 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCATTGAGAGGATTCTCCTT 0.498000 31 65 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2995901 2995901 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:2995901G>A ENST00000331459.1 - 1 389 c.390C>T c.(388-390)ctC>ctT p.L130L NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 130 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TGGTGTAGTGGAGGGGGCAGC 0.547000 38 106 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211775 17211775 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:17211775G>A ENST00000261381.6 - 11 2369 c.2285C>T c.(2284-2286)cCc>cTc p.P762L NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 762 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTCATCCATGGGCCCCAGAAG 0.572000 20 67 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72338095 72338095 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:72338095C>T ENST00000333850.3 + 3 418 c.277C>T c.(277-279)Cat>Tat p.H93Y TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 93 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CAACATGGTTCATATTGAATC 0.408000 42 96 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155792215 155792215 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:155792215G>A ENST00000437809.1 - 4 872 c.750C>T c.(748-750)acC>acT p.T250T GON4L_ENST00000271883.5_Silent_p.T250T|GON4L_ENST00000368331.1_Silent_p.T250T|GON4L_ENST00000361040.5_Silent_p.T250T|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 250 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GTTTCCTCTTGGTACCCTTTT 0.438000 61 122 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307551 54307551 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:54307551G>A ENST00000545554.1 + 1 2451 c.2451G>A c.(2449-2451)caG>caA p.Q817Q UNC13C_ENST00000260323.11_Silent_p.Q817Q|UNC13C_ENST00000537900.1_Silent_p.Q817Q Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 817 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAAGCACACAGAGTCTGAGTG 0.433000 16 49 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:80328367G>A ENST00000358842.3 - 1 1005 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 330 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTAGCCAACGAATAACAGCA 0.428000 53 143 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52431033 52431033 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:52431033C>T ENST00000420323.2 + 73 12021 c.11760C>T c.(11758-11760)caC>caT p.H3920H NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3985 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCATCTACCACCAGATCCCGC 0.617000 8 10 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40412184 40412184 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:40412184G>A ENST00000221347.6 - 7 3451 c.3444C>T c.(3442-3444)ggC>ggT p.G1148G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1148 Cys-rich.|TIL 2. 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) ACAGCGGGCAGCCGTAGGAAC 0.612000 5 42 0 0 1 0 0 PROSER2 254427 broad.mit.edu 37 10 11894099 11894099 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:11894099C>T ENST00000277570.5 + 2 177 c.23C>T c.(22-24)tCa>tTa p.S8L PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR NM_153256.3 NP_694988.3 proline and serine-rich protein 2 CACCGGAAATCAGACGCATCT 0.622000 7 19 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332853 70332853 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:70332853G>A ENST00000338508.4 - 32 3547 c.3548C>T c.(3547-3549)cCc>cTc p.P1183L SHANK2_ENST00000409161.1_Missense_Mutation_p.P586L|SHANK2_ENST00000449833.2_Missense_Mutation_p.P587L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P803L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 803 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCTGCTCTCGGGCCCCTGGGC 0.692000 13 31 0 0 1 0 0 PCYT2 5833 broad.mit.edu 37 17 79865706 79865706 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:79865706G>A ENST00000538936.2 - 5 543 c.435C>T c.(433-435)tcC>tcT p.S145S PCYT2_ENST00000571105.1_Silent_p.S145S|PCYT2_ENST00000570388.1_Silent_p.S67S|PCYT2_ENST00000538721.2_Silent_p.S145S|PCYT2_ENST00000331285.3_Silent_p.S67S|PCYT2_ENST00000570391.1_Silent_p.S113S NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 145 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGTCTGTGGTGGACACCCCTT 0.642000 13 43 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526599 84526599 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:84526599G>A ENST00000360700.4 + 10 3075 c.2189G>A c.(2188-2190)gGa>gAa p.G730E ZNF711_ENST00000542798.1_Missense_Mutation_p.G526E|ZNF711_ENST00000395402.1_Missense_Mutation_p.G692E|ZNF711_ENST00000373165.3_Missense_Mutation_p.G684E|ZNF711_ENST00000276123.3_Missense_Mutation_p.G684E Q9Y462 ZN711_HUMAN zinc finger protein 711 684 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGCAAGAGAGGATTCAGACAA 0.363000 53 37 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434439 31434439 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:31434439G>A ENST00000389202.2 + 24 2834 c.2785G>A c.(2785-2787)Gaa>Aaa p.E929K NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 929 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTCCAGGCAGGAAGAATCCAC 0.517000 9 58 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7649537 7649537 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:7649537C>T ENST00000359156.4 - 5 1173 c.971G>A c.(970-972)gGa>gAa p.G324E CD163_ENST00000541972.1_Missense_Mutation_p.G312E|CD163_ENST00000432237.2_Missense_Mutation_p.G324E|CD163_ENST00000396620.3_Missense_Mutation_p.G324E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 324 SRCR 3. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTGTCCAAATCCCTTACTGGC 0.502000 14 48 0 0 1 0 0 SCARB1 949 broad.mit.edu 37 12 125302130 125302130 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:125302130G>A ENST00000339570.5 - 2 446 c.250C>T c.(250-252)Ccg>Tcg p.P84S SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.P43S|SCARB1_ENST00000415380.2_Missense_Mutation_p.P84S|SCARB1_ENST00000261693.6_Missense_Mutation_p.P84S|SCARB1_ENST00000540495.1_Missense_Mutation_p.P47S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.P30S|SCARB1_ENST00000546215.1_Missense_Mutation_p.P84S NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 84 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) CGCACCTGCGGCTTCTCGCCC 0.617000 21 54 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51043425 51043425 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:51043425C>T ENST00000399908.2 + 3 1616 c.900C>T c.(898-900)gaC>gaT p.D300D MAPK8IP2_ENST00000341339.4_Silent_p.D186D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Silent_p.D271D|MAPK8IP2_ENST00000329492.3_Silent_p.D565D|MAPK8IP2_ENST00000399912.1_Silent_p.D300D NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 566 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 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) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCTCGCCGGACAGCCCTGACC 0.662000 9 46 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1392548 1392548 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:1392548G>A ENST00000378785.2 + 8 1724 c.729G>A c.(727-729)cgG>cgA p.R243R NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 243 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 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;9.48e-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)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCTTCCTTCGGAAGCGAGCCA 0.647000 42 39 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49424413 49424413 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:49424413G>A ENST00000301067.7 - 41 13809 c.13810C>T c.(13810-13812)Cct>Tct p.P4604S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TAGTAGTCAGGGCCAGTGGGC 0.527000 5 28 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239025592 239025592 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:239025592G>A ENST00000343063.3 + 5 1167 c.904G>A c.(904-906)Gaa>Aaa p.E302K ESPNL_ENST00000409169.1_Intron NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 302 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCTGCGGGATGAAGATGGTTA 0.657000 7 32 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61897297 61897297 + Missense_Mutation SNP C C A rs139863209 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:61897297C>A ENST00000394818.3 + 4 500 c.298C>A c.(298-300)Cgc>Agc p.R100S INCENP_ENST00000278849.4_Missense_Mutation_p.R100S NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 100 R -> H (in dbSNP:rs12281503). chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GAGCTCCCGACGCCTCCGCAG 0.677000 16 32 1.37285e-15 1.39326e-15 1 1 0 FOLH1 2346 broad.mit.edu 37 11 49168403 49168403 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:49168403C>T ENST00000340334.7 - 20 2481 c.2113G>A c.(2113-2115)Gac>Aac p.D705N FOLH1_ENST00000356696.3_Missense_Mutation_p.D689N|FOLH1_ENST00000533034.1_Missense_Mutation_p.D674N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D720N|FOLH1_ENST00000343844.4_Missense_Mutation_p.D412N NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 720 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) TTGGAAGGGTCCACTTTGCTT 0.478000 31 96 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227946898 227946898 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:227946898C>T ENST00000396625.3 - 23 1836 c.1629G>A c.(1627-1629)aaG>aaA p.K543K COL4A4_ENST00000329662.7_Silent_p.K543K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 543 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGCACCATGCTTTCCCTTGG 0.413000 46 93 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56319229 56319229 + Missense_Mutation SNP G G A rs141366900 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:56319229G>A ENST00000443188.1 - 6 2703 c.1993C>T c.(1993-1995)Cgc>Tgc p.R665C NLRP11_ENST00000589093.1_Missense_Mutation_p.R665C|NLRP11_ENST00000592953.1_Missense_Mutation_p.R566C|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000589824.2_Intron NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 665 ATP binding p.R665C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTGAGTGTGCGAAGTTTACAG 0.423000 22 173 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110710562 110710562 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:110710562C>T ENST00000282356.4 + 3 653 c.255C>T c.(253-255)atC>atT p.I85I CAMK4_ENST00000512453.1_Silent_p.I85I NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 85 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ACAAAAAAATCGTAAGAACTG 0.378000 16 57 0 0 1 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670798 90670798 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:90670798G>A ENST00000265138.3 - 5 1077 c.811C>T c.(811-813)Cca>Tca p.P271S NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 271 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GAAACTGGTGGAATTTTCAGC 0.403000 29 91 0 0 1 0 0 ASB18 401036 broad.mit.edu 37 2 237172851 237172851 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:237172851C>T ENST00000409749.3 - 1 137 c.138G>A c.(136-138)gtG>gtA p.V46V AC079135.1_ENST00000415226.1_RNA NM_212556.2 NP_997721.2 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 46 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CCAGTTCTATCACAGCGTCCA 0.512000 9 25 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28918401 28918401 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28918401G>A ENST00000257192.4 + 10 1601 c.1389G>A c.(1387-1389)acG>acA p.T463T NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 463 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACCAAGGAACGATTCTCTCTA 0.318000 24 86 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218990 130218990 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:130218990G>A ENST00000276211.5 + 7 1252 c.907G>A c.(907-909)Gat>Aat p.D303N ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D167N|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D291N NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 303 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGACATGAAGGATTCTCTGCT 0.468000 59 34 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409763 56409763 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:56409763C>T ENST00000544374.1 - 1 184 c.156G>A c.(154-156)atG>atA p.M52I OR5AP2_ENST00000302981.1_Missense_Mutation_p.M51I Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TCAATACAATCATCCCCAAAT 0.423000 13 71 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251398 43251398 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:43251398G>A ENST00000259750.4 + 14 3003 c.2920G>A c.(2920-2922)Ggg>Agg p.G974R NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 974 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGTGGAGGAGGGGGCCCGAGC 0.692000 16 40 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106863615 106863615 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:106863615C>T ENST00000379987.2 + 8 1131 c.915C>T c.(913-915)atC>atT p.I305I NPNT_ENST00000514622.1_Silent_p.I305I|NPNT_ENST00000506666.1_Silent_p.I335I|NPNT_ENST00000453617.2_Silent_p.I322I|NPNT_ENST00000427316.2_Silent_p.I335I|NPNT_ENST00000305572.8_Silent_p.I305I NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 305 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TTCCTCCTATCATTACCAACA 0.458000 39 107 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201970536 201970536 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:201970536C>T ENST00000295640.4 + 7 1280 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.P374S NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 413 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TAATGAGACCCCCTACGAGAA 0.493000 14 66 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340421 100340421 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:100340421C>T ENST00000341853.1 - 0 505 NR_003260.1 CACGCGAGCGCAGGTTGGACA 0.607000 5 18 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2946352 2946352 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:2946352C>T ENST00000396946.4 - 25 3788 c.3385G>A c.(3385-3387)Gag>Aag p.E1129K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1129 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AGCAGCTCCTCTACGCTGCCC 0.662000 Mis DLBCL 23 65 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74637424 74637424 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:74637424C>T ENST00000358632.4 - 3 807 c.112G>A c.(112-114)Ggg>Agg p.G38R CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000268053.6_Missense_Mutation_p.G196R|CYP11A1_ENST00000419019.2_Missense_Mutation_p.G38R NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 196 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTGATGTCCCCCGAGTAATTT 0.582000 15 57 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725903 87725903 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:87725903C>T ENST00000305344.4 + 2 1554 c.851C>T c.(850-852)aCc>aTc p.T284I HTR1E_ENST00000369584.1_Missense_Mutation_p.T284I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 284 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATCTCTAGCACCAGGGAACGG 0.512000 90 120 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112918598 112918598 + Splice_Site SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:112918598G>A ENST00000374530.3 + 9 3175 c.e9-1 AKAP2_ENST00000259318.7_Splice_Site|AKAP2_ENST00000555236.1_Splice_Site|AKAP2_ENST00000510514.5_Splice_Site|AKAP2_ENST00000434623.2_Splice_Site|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Splice_Site|PALM2-AKAP2_ENST00000302798.7_Splice_Site NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TGTTGTTTCAGGGAAAATAGA 0.493000 36 48 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546576 11546576 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:11546576C>T ENST00000389362.4 - 3 471 c.436G>A c.(436-438)Gga>Aga p.G146R PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTTGCCTCCTTGTGGGGGT 0.582000 108 751 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122831503 122831503 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:122831503C>T ENST00000264811.5 - 5 1797 c.1379G>A c.(1378-1380)gGa>gAa p.G460E TRPC3_ENST00000379645.3_Missense_Mutation_p.G533E|TRPC3_ENST00000513531.1_Missense_Mutation_p.G405E NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 448 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTCCCTAGGTCCTTCCAGCCA 0.458000 39 100 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6386917 6386917 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:6386917G>A ENST00000262483.8 - 6 594 c.507C>T c.(505-507)ttC>ttT p.F169F ACKR6_ENST00000421306.3_Silent_p.F133F NM_031220.3 NP_112497.2 GGGCAGCAGGGAAATGGGCTC 0.597000 14 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048951 9048951 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9048951G>A ENST00000397910.4 - 5 32883 c.32680C>T c.(32680-32682)Cca>Tca p.P10894S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10896 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 GTCAGAATTGGAATAGTTGTA 0.483000 47 95 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149937770 149937770 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:149937770G>A ENST00000369135.3 - 5 830 c.536C>T c.(535-537)aCc>aTc p.T179I OTUD7B_ENST00000479905.1_5'UTR NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 179 Catalytic.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CCTCTGAGAGGTGGGATCCAC 0.512000 14 32 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33014668 33014668 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:33014668G>A ENST00000280979.4 + 4 979 c.809G>A c.(808-810)cGa>cAa p.R270Q AKAP6_ENST00000557272.1_Missense_Mutation_p.R270Q|AKAP6_ENST00000557354.1_Missense_Mutation_p.R270Q NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 270 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGCTTATCCGAAGTGTTGGT 0.468000 20 112 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70514348 70514348 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:70514348C>T ENST00000377844.4 - 4 1597 c.838G>A c.(838-840)Gac>Aac p.D280N KLHL1_ENST00000545028.1_Missense_Mutation_p.D87N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 280 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCAATGGTGTCCTCTTTTAAT 0.383000 8 25 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562818 140562818 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140562818C>T ENST00000361016.2 + 1 1839 c.684C>T c.(682-684)gtC>gtT p.V228V NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 228 Cadherin 2. 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) CTGCTCAGGTCCGTATTGAAG 0.522000 32 78 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99378639 99378639 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:99378639G>A ENST00000376503.5 - 3 141 c.86C>T c.(85-87)tCc>tTc p.S29F NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 29 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity p.S29F(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TCCATAGTAGGAAAATCTTTC 0.443000 10 37 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108688560 108688560 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:108688560A>G ENST00000232603.5 - 26 2642 c.2560T>C c.(2560-2562)Tgc>Cgc p.C854R MORC1_ENST00000483760.1_Missense_Mutation_p.C833R NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 854 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGCTCTGGGCACTGCTCCAGC 0.368000 26 84 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122341965 122341965 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:122341965G>A ENST00000434824.1 - 1 1056 c.840C>T c.(838-840)ttC>ttT p.F280F CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 280 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 ATGCCTTATGGAAAAAATGTT 0.398000 50 73 0 0 1 0 0 TPST2 8459 broad.mit.edu 37 22 26937530 26937530 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:26937530G>A ENST00000338754.4 - 3 337 c.67C>T c.(67-69)Cag>Tag p.Q23* TPST2_ENST00000403880.1_Nonsense_Mutation_p.Q23*|TPST2_ENST00000398110.2_Nonsense_Mutation_p.Q23* NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 23 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 TGTCCCAGCTGAACCGCCAGC 0.741000 4 22 0 0 1 0 0 TBKBP1 9755 broad.mit.edu 37 17 45776734 45776734 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:45776734G>A ENST00000361722.3 + 5 1532 c.683G>A c.(682-684)cGg>cAg p.R228Q NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 228 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GAGCGGCGGCGGCTAGAAGAG 0.711000 OREG0024498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 12 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32379123 32379123 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:32379123C>T ENST00000375200.1 + 15 2730 c.2365C>T c.(2365-2367)Ccc>Tcc p.P789S RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.P782S Q9BYN7 ZN341_HUMAN zinc finger protein 341 789 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CGAGGCTGTCCCCGGCAAGCC 0.692000 9 36 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190593448 190593448 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:190593448G>A ENST00000520309.1 + 15 3182 c.3094G>A c.(3094-3096)Ggg>Agg p.G1032R ANKAR_ENST00000438402.2_Missense_Mutation_p.G1032R|ANKAR_ENST00000431575.2_Missense_Mutation_p.G961R|ANKAR_ENST00000313581.4_Missense_Mutation_p.G1032R|ANKAR_ENST00000281412.6_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1032 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AATATGTGAAGGGAATGGAAT 0.413000 11 91 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228539042 228539042 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228539042T>C ENST00000570156.2 + 89 21385 c.21311T>C c.(21310-21312)cTg>cCg p.L7104P OBSCN_ENST00000284548.11_Missense_Mutation_p.L6147P|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3266P|OBSCN_ENST00000422127.1_Missense_Mutation_p.L6147P|OBSCN_ENST00000366707.4_Missense_Mutation_p.L3781P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6147 Pro-rich. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACGGGGCCCTGCTGACCACT 0.642000 3 6 0 0 1 0 0 C4orf29 80167 broad.mit.edu 37 4 128951697 128951697 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:128951697C>T ENST00000388795.5 + 12 1370 c.967C>T c.(967-969)Caa>Taa p.Q323* C4orf29_ENST00000444616.1_Nonsense_Mutation_p.Q371*|C4orf29_ENST00000398965.1_Nonsense_Mutation_p.Q371* Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 371 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TATAGTGGTTCAAGCCAAAGA 0.368000 21 64 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230341907 230341907 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:230341907C>T ENST00000341772.4 - 7 1344 c.1210G>A c.(1210-1212)Gga>Aga p.G404R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 404 EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.G404R(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CATGTTGCTCCATTTCTGCAT 0.358000 23 40 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2027386 2027386 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:2027386G>A ENST00000568546.1 + 16 1829 c.1701G>A c.(1699-1701)ctG>ctA p.L567L NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 567 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 CTTCTGTGCTGAAGGTGGCCT 0.657000 30 60 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331595 107331595 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:107331595C>T ENST00000335040.1 + 1 147 c.147C>T c.(145-147)atC>atT p.I49I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTCAGTTATCATCTTTGATT 0.443000 109 159 0 0 1 0 0 CYB561A3 220002 broad.mit.edu 37 11 61121274 61121274 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:61121274G>A ENST00000546151.1 - 4 474 c.206C>T c.(205-207)tCt>tTt p.S69F CYB561A3_ENST00000447532.2_Silent_p.V125V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000426130.2_Silent_p.V142V|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000536915.1_Silent_p.V125V|CYB561A3_ENST00000294072.4_Silent_p.V125V cytochrome b561 family, member A3 CGAAGAGGAAGACAGTGGTGA 0.547000 11 34 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814011 137814011 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:137814011G>A ENST00000409968.1 + 3 339 c.161G>A c.(160-162)gGa>gAa p.G54E THSD7B_ENST00000272643.3_Missense_Mutation_p.G54E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G23E thrombospondin, type I, domain containing 7B p.G54A(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGTGTACAGGAGACTGTGGT 0.483000 7 54 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108211414 108211414 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:108211414G>A ENST00000273353.3 - 10 920 c.864C>T c.(862-864)ttC>ttT p.F288F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 288 Myosin head-like. 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 CAGCCTGCTGGAAAATCACCC 0.378000 16 43 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872205 51872205 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:51872205C>T ENST00000371497.5 + 2 3095 c.2208C>T c.(2206-2208)gtC>gtT p.V736V TSHZ2_ENST00000329613.6_Silent_p.V733V|TSHZ2_ENST00000603338.2_Silent_p.V733V NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 736 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) ATCTCAATGTCATGGACAAGC 0.542000 25 57 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128445894 128445894 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:128445894G>A ENST00000297788.4 + 7 1395 c.1028G>A c.(1027-1029)aGg>aAg p.R343K CCDC136_ENST00000378685.4_Missense_Mutation_p.R381K|CCDC136_ENST00000487361.1_Missense_Mutation_p.R343K|CCDC136_ENST00000464832.1_Missense_Mutation_p.R393K NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 343 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CGGCTGCAGAGGGAGCTCAAG 0.567000 18 32 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288916 216288916 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:216288916G>A ENST00000354785.4 - 8 1538 c.1169C>T c.(1168-1170)tCg>tTg p.S390L FN1_ENST00000443816.1_Missense_Mutation_p.S390L|FN1_ENST00000426059.1_Missense_Mutation_p.S390L|FN1_ENST00000346544.3_Missense_Mutation_p.S390L|FN1_ENST00000345488.5_Missense_Mutation_p.S390L|FN1_ENST00000323926.6_Missense_Mutation_p.S390L|FN1_ENST00000356005.4_Missense_Mutation_p.S390L|FN1_ENST00000336916.4_Missense_Mutation_p.S390L|FN1_ENST00000446046.1_Missense_Mutation_p.S390L|FN1_ENST00000432072.2_Missense_Mutation_p.S390L|FN1_ENST00000421182.1_Missense_Mutation_p.S390L|FN1_ENST00000359671.1_Missense_Mutation_p.S390L|FN1_ENST00000357867.4_Missense_Mutation_p.S390L|FN1_ENST00000357009.2_Missense_Mutation_p.S390L P02751 FINC_HUMAN fibronectin 1 390 Collagen-binding.|Fibronectin type-II 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCATAATTCGAAGTTGTGCT 0.512000 46 114 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046564 73046564 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:73046564C>T ENST00000335350.6 + 5 1087 c.671C>T c.(670-672)aCc>aTc p.T224I UNC5B_ENST00000373192.4_Missense_Mutation_p.T224I NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 224 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCCAACTATACCTGCGTGGCC 0.627000 74 107 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148481127 148481127 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:148481127C>T ENST00000325222.4 + 11 1535 c.1256C>T c.(1255-1257)cCt>cTt p.P419L CUL1_ENST00000602748.1_Missense_Mutation_p.P419L|CUL1_ENST00000409469.1_Missense_Mutation_p.P419L NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 419 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AGTAAATCCCCTGAGTTGCTG 0.423000 21 93 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815518 106815518 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:106815518G>A ENST00000407775.2 + 8 3458 c.3208G>A c.(3208-3210)Gaa>Aaa p.E1070K ZFPM2_ENST00000378472.4_Missense_Mutation_p.E801K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E938K|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E938K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1070 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCCTCAGCACGAAGACGACCA 0.478000 13 34 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3227866 3227866 + Missense_Mutation SNP C C T rs149129110 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:3227866C>T ENST00000217939.6 - 7 8532 c.8378G>A c.(8377-8379)gGa>gAa p.G2793E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2793 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGTCAGTGATCCCTGGGGGTG 0.502000 4 38 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56823910 56823910 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:56823910G>A ENST00000229201.4 - 10 1216 c.1062C>T c.(1060-1062)aaC>aaT p.N354N TIMELESS_ENST00000553532.1_Silent_p.N355N|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 355 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CCATGAGCCGGTTGTAACAGT 0.517000 14 35 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119043650 119043650 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:119043650C>T ENST00000409109.1 + 4 768 c.181C>T c.(181-183)Ccc>Tcc p.P61S NLRX1_ENST00000525863.1_Missense_Mutation_p.P61S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P61S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P61S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P61S Q86UT6 NLRX1_HUMAN NLR family member X1 61 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGATAGCGCTCCCCCACCCGG 0.637000 17 77 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54685258 54685258 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:54685258G>A ENST00000545554.1 + 17 4726 c.4726G>A c.(4726-4728)Gat>Aat p.D1576N UNC13C_ENST00000260323.11_Missense_Mutation_p.D1576N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1574N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1576 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TAAGAAACAGGATATTCCTCG 0.378000 17 64 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910459 52910459 + Silent SNP G G A rs60062350 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:52910459G>A ENST00000252242.4 - 7 1791 c.1401C>T c.(1399-1401)atC>atT p.I467I NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 467 Coil 2.|Rod. I -> T (in DM-EBS). 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) GGTAAGTGGCGATCTCCACGT 0.587000 61 139 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65267478 65267478 + Missense_Mutation SNP C C A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:65267478C>A ENST00000389722.3 - 7 925 c.872G>T c.(871-873)gGc>gTc p.G291V SPTB_ENST00000542895.1_Missense_Mutation_p.G291V|SPTB_ENST00000389720.3_Missense_Mutation_p.G291V|SPTB_ENST00000389721.5_Missense_Mutation_p.G291V|SPTB_ENST00000556626.1_Missense_Mutation_p.G291V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 291 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTGTACCTTGCCGACACGCTT 0.498000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 38 1 1 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92732551 92732551 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:92732551C>T ENST00000379958.2 - 3 3129 c.2860G>A c.(2860-2862)Gaa>Aaa p.E954K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 954 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCAAATTTTTCTGTCCCCCAG 0.398000 35 67 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154267904 154267904 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:154267904G>A ENST00000285873.7 - 28 4468 c.4393C>T c.(4393-4395)Ctc>Ttc p.L1465F NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1465 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGCAGGACGAGGCAGCACTCC 0.537000 24 64 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363780 22363780 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:22363780G>A ENST00000397121.2 - 3 1056 c.739C>T c.(739-741)Cat>Tat p.H247Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCTCCAGTATGAATTATCTTA 0.368000 31 156 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332767 22332767 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:22332767C>T ENST00000558896.1 + 0 574 ACAGTTATGGCCTATGACAGG 0.502000 20 147 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16326932 16326932 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:16326932G>A ENST00000244769.4 - 8 2546 c.1610C>T c.(1609-1611)gCc>gTc p.A537V ATXN1_ENST00000436367.1_Missense_Mutation_p.A537V NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 537 Self-association. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGTGACCAGGGCCTCAGGGTT 0.677000 13 104 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61064475 61064475 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:61064475C>T ENST00000238497.5 - 9 1087 c.884G>A c.(883-885)cGa>cAa p.R295Q NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 295 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 AATATAAATTCGTTTCTCAAA 0.388000 19 43 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124132416 124132416 + Missense_Mutation SNP C C A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:124132416C>A ENST00000360013.3 + 14 2567 c.2440C>A c.(2440-2442)Cac>Aac p.H814N KALRN_ENST00000240874.3_Missense_Mutation_p.H814N|KALRN_ENST00000460856.1_Missense_Mutation_p.H814N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 814 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCTGCAGCGCCACACAGAACG 0.547000 23 42 9.95505e-16 1.01304e-15 1 1 0 RYR1 6261 broad.mit.edu 37 19 39003011 39003011 + Silent SNP C C G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:39003011C>G ENST00000355481.4 + 63 9491 c.9360C>G c.(9358-9360)acC>acG p.T3120T RYR1_ENST00000359596.3_Silent_p.T3120T|RYR1_ENST00000360985.3_Silent_p.T3120T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3120 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGCGCGCACCCAGGTGAAAG 0.637000 20 38 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74842228 74842228 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:74842228G>A ENST00000290536.5 - 3 405 c.289C>T c.(289-291)Cgc>Tgc p.R97C M1AP_ENST00000409585.1_Missense_Mutation_p.R97C|M1AP_ENST00000536235.1_Missense_Mutation_p.R97C|M1AP_ENST00000358434.2_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein TGTAACATGCGGAGTTCTGAG 0.473000 31 122 0 0 1 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435624 104435624 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:104435624G>A ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TCCTTAATTTGAAACAAGTGC 0.463000 18 39 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28968386 28968386 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28968386G>A ENST00000359747.4 + 4 302 c.273G>A c.(271-273)ggG>ggA p.G91G RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.G91G NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 91 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTGGAGTAGGGATTGATCGAC 0.413000 21 40 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32663547 32663547 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:32663547C>T ENST00000335185.5 - 13 1064 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 341 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AGTGCTTTTTCATGCTCATTT 0.249000 10 27 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161214630 161214630 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:161214630T>A ENST00000327928.4 + 1 35 c.35T>A c.(34-36)aTt>aAt p.I12N NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 12 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GCTATTTTAATTATTTTGGCT 0.338000 7 27 0 0 1 0 0 S1PR2 9294 broad.mit.edu 37 19 10335455 10335455 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:10335455G>A ENST00000590320.1 - 2 237 c.127C>T c.(127-129)Ctc>Ttc p.L43F NM_004230.3 NP_004221.3 O95136 S1PR2_HUMAN sphingosine-1-phosphate receptor 2 43 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCGCAACAGAGGATGACGATG 0.557000 24 141 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153665827 153665827 + Splice_Site SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:153665827G>A ENST00000368680.3 + 22 3595 c.e22-1 NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TTTCCCTCCAGGGCAAAGGCA 0.607000 26 95 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881601 228881601 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:228881601G>A ENST00000392056.3 - 7 4015 c.3969C>T c.(3967-3969)atC>atT p.I1323I SPHKAP_ENST00000344657.5_Silent_p.I1323I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1323 cytoplasm protein binding p.I1323I(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATCCACAATGATTTTGTTCT 0.493000 30 53 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82644584 82644584 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:82644584C>T ENST00000533655.1 + 6 2416 c.2204C>T c.(2203-2205)tCc>tTc p.S735F C11orf82_ENST00000329143.3_Missense_Mutation_p.S434F|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.S735F|C11orf82_ENST00000528759.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 735 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CAAAAATTATCCTTGCAAAGC 0.368000 30 81 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18390671 18390671 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:18390671C>T ENST00000338745.6 - 11 4017 c.2283G>A c.(2281-2283)ttG>ttA p.L761L TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.L793L|SATB1_ENST00000454909.2_Silent_p.L761L NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 761 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 CTCAGTCTTTCAAATCAGTAT 0.358000 43 97 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20919102 20919102 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:20919102G>A ENST00000261497.4 - 6 1004 c.801C>T c.(799-801)ctC>ctT p.L267L USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.L255L NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 267 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GGGCCGCGATGAGGAACTCGT 0.632000 5 17 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115218614 115218614 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:115218614G>A ENST00000369538.3 - 10 1533 c.1486C>T c.(1486-1488)Cgt>Tgt p.R496C AMPD1_ENST00000520113.2_Missense_Mutation_p.R500C|AMPD1_ENST00000353928.6_Missense_Mutation_p.R467C NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 467 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TTCTTGGAACGGAACACATCA 0.428000 41 86 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577224 179577224 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179577224G>A ENST00000589042.1 - 95 27649 c.27425C>T c.(27424-27426)tCg>tTg p.S9142L TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7898L|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8825L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8825 Ig-like 74. 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) CCAGGTAACCGAAATGGGAGG 0.423000 21 37 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181798 47181798 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:47181798G>A ENST00000447411.1 - 4 433 c.227C>T c.(226-228)tCc>tTc p.S76F SLC38A4_ENST00000266579.4_Missense_Mutation_p.S76F NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 76 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CATTCCAAAGGAAGTGGTTCC 0.433000 20 40 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42807886 42807886 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:42807886C>T ENST00000288383.6 + 2 585 c.229_splice c.e2+1 p.I76_splice MX1_ENST00000398600.2_Silent_p.I76I|MX1_ENST00000455164.2_Silent_p.I76I|MX1_ENST00000398598.3_Silent_p.I76I P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 76 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TCGCCGTCATCGGGGACCAGA 0.607000 21 93 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798367 113798367 + Silent SNP C C T rs137995645 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:113798367C>T ENST00000375559.3 + 6 743 c.705C>T c.(703-705)atC>atT p.I235I F10_ENST00000409306.1_Silent_p.I235I|F10_ENST00000375551.3_Silent_p.I235I NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 235 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACCAGGATCGTGGGAGGCC 0.622000 11 65 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79470894 79470894 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:79470894G>A ENST00000370742.3 - 2 96 c.33C>T c.(31-33)tcC>tcT p.S11S 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 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) TCAACAAAGTGGAAAAAACCA 0.318000 13 57 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967264 4967264 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrY:4967264C>T ENST00000333703.4 + 5 2125 c.1612C>T c.(1612-1614)Cgt>Tgt p.R538C PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549C|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549C NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 549 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R538C(1) autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAGCCTGGATCGTCGTACAGG 0.443000 3 20 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57759755 57759755 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:57759755T>A ENST00000269122.3 + 22 3840 c.3566T>A c.(3565-3567)tTt>tAt p.F1189Y CLTC_ENST00000579456.1_Missense_Mutation_p.F126Y|CLTC_ENST00000393043.1_Missense_Mutation_p.F1189Y NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1189 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTAGAAGAATTTATCAATGGA 0.408000 T """ALK, TFE3""" """ALCL, renal """ 35 78 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631747 122631747 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:122631747G>A ENST00000195173.4 - 18 2968 c.2665C>T c.(2665-2667)Ctg>Ttg p.L889L SEMA5B_ENST00000357599.3_Silent_p.L890L|SEMA5B_ENST00000451055.2_Silent_p.L944L Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 890 TSP type-1 3. 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) ACGCAGGGCAGGCCCCCGTTG 0.687000 5 78 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960822 143960822 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:143960822C>T ENST00000377675.3 - 2 320 c.314G>A c.(313-315)aGg>aAg p.R105K CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 80 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCACCATCCCCTGCCCTGGCA 0.607000 Familial Hyperaldosteronism type I 9 37 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14756895 14756895 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:14756895C>T ENST00000253697.3 + 9 1865 c.1413C>T c.(1411-1413)acC>acT p.T471T C3orf20_ENST00000412910.1_Silent_p.T349T|C3orf20_ENST00000435614.1_Silent_p.T349T|C3orf20_ENST00000495387.1_3'UTR NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 471 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GGACAGAGACCCTGCTTTCCC 0.562000 19 46 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158281195 158281195 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:158281195G>A ENST00000296526.7 + 13 2516 c.2191G>A c.(2191-2193)Gag>Aag p.E731K GRIA2_ENST00000264426.9_Missense_Mutation_p.E731K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E684K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E684K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E684K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 731 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CACGATGAACGAGTACATTGA 0.507000 32 40 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27332407 27332407 + Silent SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:27332407A>G ENST00000376087.4 - 20 2274 c.2109T>C c.(2107-2109)tcT>tcC p.S703S ANKRD26_ENST00000376070.3_Silent_p.S260S|ANKRD26_ENST00000436985.2_Silent_p.S719S NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 702 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCTTGTAACTAGAGTGGGGTA 0.363000 14 19 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154324 5154324 + Missense_Mutation SNP C C A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:5154324C>A ENST00000252321.3 + 1 1240 c.1011C>A c.(1009-1011)ttC>ttA p.F337L NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 337 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGTTCACCTTCGAGCTGCTCG 0.622000 21 118 2.4624e-09 2.48891e-09 1 1 0 ZNF665 79788 broad.mit.edu 37 19 53668305 53668305 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:53668305G>A ENST00000600412.1 - 2 1358 c.1243C>T c.(1243-1245)Cat>Tat p.H415Y ZNF665_ENST00000396424.3_Missense_Mutation_p.H480Y Q9H7R5 ZN665_HUMAN zinc finger protein 665 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCTCCAGAATGAATTCCCCGA 0.418000 24 120 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112352867 112352867 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:112352867C>T ENST00000361804.4 + 18 1975 c.1849C>T c.(1849-1851)Ccc>Tcc p.P617S NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 617 Flexible hinge. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GAGGTACAATCCCAGATTTGA 0.383000 7 23 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15555736 15555736 + Silent SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:15555736A>G ENST00000281513.5 - 25 2896 c.2871T>C c.(2869-2871)taT>taC p.Y957Y NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 957 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AAGTTACTAAATATTCTTTTA 0.378000 42 75 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54930866 54930866 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:54930866G>A ENST00000474759.1 + 26 2385 c.2337G>A c.(2335-2337)ggG>ggA p.G779G CACNA2D3_ENST00000490478.1_Silent_p.G685G|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.G779G|CACNA2D3_ENST00000288197.5_Silent_p.G779G NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 779 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGATTCCAGGGAGCTTCGTCT 0.562000 34 106 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:138414689G>A ENST00000409968.1 + 24 4512 c.4334G>A c.(4333-4335)cGa>cAa p.R1445Q THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 9 45 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292065 6292065 + Silent SNP C C A rs1800843 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6292065C>A ENST00000525462.1 + 4 846 c.843C>A c.(841-843)ggC>ggA p.G281G CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Intron P32239 GASR_HUMAN cholecystokinin B receptor 241 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AAAATCTGGGCGAGGCGGAGC 0.622000 4 30 3.59834e-05 3.60794e-05 1 1 0 OR4A47 403253 broad.mit.edu 37 11 48510994 48510994 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:48510994G>A ENST00000446524.1 + 1 726 c.650G>A c.(649-651)gGt>gAt p.G217D NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 217 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 ATCTCTTATGGTGTCATCTTG 0.463000 29 97 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687523 27687523 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:27687523C>T ENST00000438700.3 - 4 2121 c.2004G>A c.(2002-2004)tgG>tgA p.W668* NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 668 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CATCTTTATCCCAGTAGTCAA 0.308000 24 27 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765601 77765601 + Silent SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:77765601T>C ENST00000521891.2 + 10 6892 c.6444T>C c.(6442-6444)ttT>ttC p.F2148F ZFHX4_ENST00000050961.6_Silent_p.F2103F|ZFHX4_ENST00000455469.2_Silent_p.F2103F|ZFHX4_ENST00000518282.1_Silent_p.F2122F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2103 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGGCTTATTTTGACATTAATA 0.398000 HNSCC(33;0.089) 19 66 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44747192 44747192 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:44747192C>T ENST00000222673.5 + 22 2850 c.2808C>T c.(2806-2808)ttC>ttT p.F936F OGDH_ENST00000439616.2_Silent_p.F786F|OGDH_ENST00000543843.1_Silent_p.F887F|OGDH_ENST00000449767.1_Silent_p.F932F|OGDH_ENST00000447398.1_Silent_p.F947F|OGDH_ENST00000444676.1_Silent_p.F951F NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 936 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TGTCGCCATTCCCCTTTGACC 0.547000 53 142 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181666 128181666 + Silent SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:128181666A>G ENST00000469083.1 - 2 2980 c.423T>C c.(421-423)ttT>ttC p.F141F DNAJB8_ENST00000319153.3_Silent_p.F141F Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 141 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TGAAGGCCGGAAATTCTCCAA 0.607000 13 33 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71606154 71606154 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:71606154C>T ENST00000265382.3 + 15 1906 c.1601C>T c.(1600-1602)tCt>tTt p.534_534insF PIP5K1B_ENST00000541509.1_Intron NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GACAATGCTTCTGTGCTTGAC 0.443000 25 31 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169961392 169961392 + Missense_Mutation SNP A A C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:169961392A>C ENST00000367765.1 - 11 2569 c.1068T>G c.(1066-1068)aaT>aaG p.N356K KIFAP3_ENST00000540905.1_Missense_Mutation_p.N98K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.N396K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.N352K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.N318K NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 396 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGTAGTTGTCATTGCCTAGGA 0.313000 11 35 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058026 152058026 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:152058026C>T ENST00000368806.1 - 3 2196 c.2132G>A c.(2131-2133)gGa>gAa p.G711E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 711 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGTTGCTCTTCCTTTCTCTTC 0.443000 61 198 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109527396 109527396 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:109527396C>T ENST00000409271.1 - 8 1105 c.662G>A c.(661-663)gGc>gAc p.G221D EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Missense_Mutation_p.G221D Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 217 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CGCATGGGGGCCGTCACCTGG 0.597000 6 26 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23233420 23233420 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:23233420G>A ENST00000400191.3 + 11 2124 c.2106G>A c.(2104-2106)atG>atA p.M702I EPHB2_ENST00000374632.3_Missense_Mutation_p.M703I|EPHB2_ENST00000374630.3_Missense_Mutation_p.M702I|EPHB2_ENST00000374627.1_Missense_Mutation_p.M697I NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 702 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCGAGTTCATGGAGAATGGCT 0.567000 14 34 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7951740 7951740 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:7951740G>A ENST00000380183.4 + 14 2027 c.1888G>A c.(1888-1890)Gag>Aag p.E630K ALOX15B_ENST00000572022.1_Missense_Mutation_p.E618K|ALOX15B_ENST00000573359.1_Missense_Mutation_p.E556K|ALOX15B_ENST00000380173.2_Missense_Mutation_p.E601K NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 630 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GCACTTCACAGAGGAGGCCCC 0.662000 16 66 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4673985 4673985 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:4673985T>A ENST00000396952.5 + 2 879 c.229T>A c.(229-231)Tcc>Acc p.S77T OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCCTCATCTCCACCTCATC 0.458000 16 60 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627088 108627088 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:108627088G>A ENST00000264047.2 + 9 1790 c.1514G>A c.(1513-1515)gGa>gAa p.G505E SLC5A7_ENST00000540517.1_Missense_Mutation_p.G400E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G505E NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 505 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTTGAAAGTGGAACCTTGCCA 0.313000 23 59 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19456163 19456163 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:19456163C>T ENST00000392313.5 + 12 1252 c.1206C>T c.(1204-1206)ttC>ttT p.F402F MAU2_ENST00000262815.8_Silent_p.F402F NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 402 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 AAGCCCAGTTCACCACGGCCC 0.642000 27 79 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160109463 160109463 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:160109463G>A ENST00000361216.3 + 21 2963 c.2874G>A c.(2872-2874)gaG>gaA p.E958E ATP1A2_ENST00000392233.3_Silent_p.E958E NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 958 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCTGGAGGAGACGGCGTTGG 0.572000 43 63 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 48885451 48885451 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:48885451T>C ENST00000402357.1 + 1 180 c.47T>C c.(46-48)cTg>cCg p.L16P NM_001082967.1 NP_001076436.1 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 16 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GCGACCGCCCTGCCCAGCATG 0.726000 3 2 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51759245 51759245 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:51759245C>T ENST00000543196.2 - 4 988 c.783G>A c.(781-783)caG>caA p.Q261Q GALNT6_ENST00000356317.3_Silent_p.Q261Q Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 261 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCACCTCCGCCTGTGCCACGC 0.672000 5 59 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31025826 31025826 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:31025826C>T ENST00000355537.3 + 3 2390 c.2243C>T c.(2242-2244)tCg>tTg p.S748L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 748 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) AGCCTGGGCTCGGCCATGAAG 0.572000 21 120 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100205667 100205667 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:100205667C>T ENST00000209668.2 - 5 569 c.456G>A c.(454-456)gtG>gtA p.V152V RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 152 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TTTCATCCACCACTGTGTACT 0.522000 27 72 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46391094 46391094 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:46391094C>T ENST00000454345.1 + 6 1184 c.1059C>T c.(1057-1059)gtC>gtT p.V353V DGKZ_ENST00000527911.1_Silent_p.V165V|DGKZ_ENST00000456247.2_Silent_p.V164V|DGKZ_ENST00000318201.8_Silent_p.V165V|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000421244.2_Silent_p.V165V|DGKZ_ENST00000395574.3_Silent_p.V131V|DGKZ_ENST00000532868.2_Silent_p.V169V|DGKZ_ENST00000343674.6_Silent_p.V181V NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 353 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCAGGAATGTCCGCGAGGTAA 0.587000 OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 51 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99709600 99709600 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:99709600G>A ENST00000344095.4 - 8 1268 c.743C>T c.(742-744)aCg>aTg p.T248M TAF6_ENST00000452041.1_Missense_Mutation_p.T248M|TAF6_ENST00000472509.1_Missense_Mutation_p.T305M|TAF6_ENST00000453269.2_Missense_Mutation_p.T248M|TAF6_ENST00000437822.2_Missense_Mutation_p.T285M|TAF6_ENST00000418432.2_Missense_Mutation_p.T172M NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 248 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCAGGGTCCGTGGCAATGCT 0.607000 13 33 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508306 71508306 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:71508306G>A ENST00000396073.3 + 9 1444 c.1163G>A c.(1162-1164)aGa>aAa p.R388K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 388 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCTACTTCAAGAGGCAATTAT 0.468000 55 175 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701919 56701919 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:56701919C>T ENST00000586855.2 - 5 1078 c.765G>A c.(763-765)aaG>aaA p.K255K ZSCAN5B_ENST00000358992.3_Silent_p.K255K A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 255 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCTGGGGTTCCTTCCCCTCCT 0.488000 38 87 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73163924 73163924 + Splice_Site SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:73163924G>A ENST00000545377.1 + 20 2473 c.e20-1 ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000296799.4_Splice_Site NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CTCTCTCCTAGCTTCAGGAGG 0.512000 7 13 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25505414 25505414 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:25505414G>A ENST00000264709.3 - 4 681 c.344C>T c.(343-345)cCa>cTa p.P115L DNMT3A_ENST00000406659.3_Missense_Mutation_p.P115L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P115L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 115 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCTCTGCTGGGGCCCCGCC 0.657000 """Mis, F, N, S""" AML 14 35 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270717 1270717 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:1270717C>T ENST00000348261.5 + 35 7033 c.6785C>T c.(6784-6786)aCc>aTc p.T2262I CACNA1H_ENST00000565831.1_Missense_Mutation_p.T2256I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.T2256I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2262 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GAGCACCTGACCGTCCCCAGC 0.687000 8 22 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110771024 110771024 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:110771024A>G ENST00000395494.2 + 9 1705 c.1142A>G c.(1141-1143)gAt>gGt p.D381G ATP2A2_ENST00000539276.2_Missense_Mutation_p.D408G|ATP2A2_ENST00000308664.6_Missense_Mutation_p.D408G P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 408 Interacts with phospholamban 1 (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CACCAGTATGATGGTCTGGTA 0.418000 80 175 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102567566 102567566 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:102567566C>T ENST00000260229.4 - 5 711 c.619_splice c.e5-1 p.G207_splice NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 207 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CAAGTTGAATCCTTGATAATA 0.403000 6 36 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13529218 13529218 + Missense_Mutation SNP C C T rs149562504 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:13529218C>T ENST00000318426.2 - 2 339 c.122G>A c.(121-123)cGa>cAa p.R41Q C12orf36_ENST00000532841.1_Missense_Mutation_p.R41Q|C12orf36_ENST00000527705.2_Missense_Mutation_p.R41Q|C12orf36_ENST00000539026.1_Missense_Mutation_p.R41Q|C12orf36_ENST00000531049.1_5'UTR chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) gtcagcccttcgtttcagagg 0.522000 9 45 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007662 6007662 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6007662G>A ENST00000332249.4 - 1 553 c.499C>T c.(499-501)Ctg>Ttg p.L167L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCTCACCAGCACCACCATT 0.498000 10 49 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841918 5841918 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:5841918T>C ENST00000317037.2 + 1 375 c.353T>C c.(352-354)aTg>aCg p.M118T TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGTGCTCATGCTCATGGCC 0.537000 18 92 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6094739 6094739 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:6094739G>A ENST00000261405.5 - 39 7145 c.6891C>T c.(6889-6891)ccC>ccT p.P2297P NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2297 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTTTGGCCGTGGGGCAGGGCT 0.652000 7 17 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910775 108910775 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:108910775C>T ENST00000326853.5 + 3 695 c.242C>T c.(241-243)cCt>cTt p.P81L SULT1C2_ENST00000409880.1_Missense_Mutation_p.P81L|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P81L|SULT1C2_ENST00000437390.2_Missense_Mutation_p.P81L NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 81 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 CACCGCCATCCTTTCATTGAG 0.527000 20 110 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155239662 155239662 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:155239662G>A ENST00000424344.3 + 10 1458 c.1091G>A c.(1090-1092)gGg>gAg p.G364E IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.G385E|IL9R_ENST00000369423.2_3'UTR Q01113 IL9R_HUMAN interleukin 9 receptor 385 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGGCTCCCGGGGAACCTGAGC 0.652000 10 53 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924439 24924439 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:24924439G>A ENST00000329468.2 + 1 3899 c.3425G>A c.(3424-3426)gGa>gAa p.G1142E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CACTACTATGGACAAGAAACA 0.453000 37 140 0 0 1 0 0 SFTPB 6439 broad.mit.edu 37 2 85894911 85894911 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:85894911G>A ENST00000342375.3 - 3 221 c.86C>T c.(85-87)tCc>tTc p.S29F SFTPB_ENST00000409383.1_Missense_Mutation_p.S41F|SFTPB_ENST00000519937.2_Missense_Mutation_p.S29F|SFTPB_ENST00000393822.3_Missense_Mutation_p.S41F NM_000542.3|NM_198843.2 NP_000533.3|NP_942140.2 P07988 PSPB_HUMAN surfactant protein B 29 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome p.S29F(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 ACAGGCCAAGGATGAGGTGGT 0.577000 16 50 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194115 28194115 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:28194115G>A ENST00000302326.4 - 1 3371 c.2417C>T c.(2416-2418)tCg>tTg p.S806L NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 806 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GGAGCCCAGCGAGAGCGCGCC 0.672000 T ETV6 """AML, meningioma""" 17 41 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459645 142459645 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142459645G>A ENST00000486171.1 + 4 280 c.263G>A c.(262-264)gGa>gAa p.G88E PRSS1_ENST00000311737.7_Missense_Mutation_p.G74E P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 74 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GTGAGACTGGGAGAGCACAAC 0.567000 40 253 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39002915 39002915 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:39002915G>A ENST00000355481.4 + 63 9395 c.9264G>A c.(9262-9264)gtG>gtA p.V3088V RYR1_ENST00000359596.3_Silent_p.V3088V|RYR1_ENST00000360985.3_Silent_p.V3088V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3088 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGAGATCGTGAAGGCTGGCC 0.627000 12 63 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206317619 206317619 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:206317619G>A ENST00000361052.3 + 1 161 c.43G>A c.(43-45)Gga>Aga p.G15R CTSE_ENST00000360218.2_Missense_Mutation_p.G15R|CTSE_ENST00000432969.2_5'UTR|CTSE_ENST00000358184.2_Missense_Mutation_p.G15R P14091 CATE_HUMAN cathepsin E 15 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) CCTGGAGCTGGGAGAGGCCCA 0.597000 14 62 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33409113 33409113 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:33409113C>T ENST00000418600.2 + 12 2178 c.2077C>T c.(2077-2079)Cat>Tat p.H693Y SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H693Y|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H634Y NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 693 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CTCCACACTGCATGCCCTACT 0.552000 6 76 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64880878 64880878 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:64880878G>A ENST00000279263.7 + 4 653 c.491G>A c.(490-492)gGg>gAg p.G164E TM7SF2_ENST00000540748.1_Missense_Mutation_p.G48E|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G164E NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 164 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCACCTGGGGGGAACTCAGGT 0.582000 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 99 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618548 77618548 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:77618548C>T ENST00000521891.2 + 2 2673 c.2225C>T c.(2224-2226)tCt>tTt p.S742F ZFHX4_ENST00000050961.6_Missense_Mutation_p.S742F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S742F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S742F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 742 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTGGCCACTCTGCCCCAGCC 0.517000 HNSCC(33;0.089) 18 35 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178548751 178548751 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:178548751C>T ENST00000251582.7 - 21 3190 c.3088_splice c.e21-1 p.R1030_splice NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1030 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGAGATGTTTCCTAGAGGGAG 0.667000 41 142 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848616 73848616 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:73848616G>A ENST00000523207.1 + 3 1614 c.1026G>A c.(1024-1026)ctG>ctA p.L342L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 342 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TATTGTTTCTGGCCATGGGGA 0.473000 61 192 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711179 41711179 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:41711179C>T ENST00000400454.1 - 7 1851 c.1374G>A c.(1372-1374)atG>atA p.M458I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 458 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) CCGACGTGATCATCTGGCTGA 0.607000 23 57 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725904 87725904 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:87725904C>T ENST00000305344.4 + 2 1555 c.852C>T c.(850-852)acC>acT p.T284T HTR1E_ENST00000369584.1_Silent_p.T284T NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 284 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCTCTAGCACCAGGGAACGGA 0.507000 89 123 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852997 15852997 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:15852997G>A ENST00000305892.1 + 1 795 c.795G>A c.(793-795)aaG>aaA p.K265K NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TCAAACCCAAGGGCCTCCATT 0.507000 26 161 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20039425 20039425 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:20039425C>T ENST00000400230.2 - 9 690 c.646G>A c.(646-648)Gga>Aga p.G216R TPTE2_ENST00000382978.1_Missense_Mutation_p.G176R|TPTE2_ENST00000390680.2_Missense_Mutation_p.G139R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G216R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G105R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G139R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G105R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G176R Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 216 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AGGTCAAATCCATCCCTTGTG 0.308000 27 165 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100505506 100505506 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:100505506G>A ENST00000395209.3 + 15 2162 c.1635G>A c.(1633-1635)ctG>ctA p.L545L DRP2_ENST00000538510.1_Silent_p.L545L|DRP2_ENST00000541709.1_Silent_p.L467L|DRP2_ENST00000402866.1_Silent_p.L545L NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 545 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CCCGTCAGCTGGGTGAAGTGG 0.602000 40 26 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50497524 50497524 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:50497524C>T ENST00000267842.5 + 4 1168 c.936C>T c.(934-936)atC>atT p.I312I SLC27A2_ENST00000544960.1_Silent_p.I77I|SLC27A2_ENST00000380902.4_Silent_p.I259I NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 312 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TTCAGTATATCGGTGAACTGC 0.428000 50 125 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14724592 14724592 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:14724592C>T ENST00000253697.3 + 3 824 c.372C>T c.(370-372)gcC>gcT p.A124A C3orf20_ENST00000412910.1_Silent_p.A2A|C3orf20_ENST00000435614.1_Silent_p.A2A NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 124 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 CCACCATGGCCCGTCAGGTGC 0.622000 7 16 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135382142 135382142 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:135382142C>T ENST00000442011.2 + 4 578 c.417C>T c.(415-417)acC>acT p.T139T TGFBI_ENST00000305126.8_Silent_p.T139T NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 139 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGCTTCACCATCTTCGCCC 0.622000 3 24 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4099247 4099247 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:4099247G>A ENST00000262948.5 - 7 1124 c.871C>T c.(871-873)Cct>Tct p.P291S MAP2K2_ENST00000394867.4_Missense_Mutation_p.P194S NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 291 Pro-rich.|Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ATGCTGTGAGGCTCTCCTTCT 0.711000 5 7 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 396957 396957 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:396957G>A ENST00000262320.3 - 2 440 c.69C>T c.(67-69)ccC>ccT p.P23P AXIN1_ENST00000354866.3_Silent_p.P23P|AXIN1_ENST00000481769.1_Intron NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 23 activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CAGGCACTGGGGGTCGGGGAG 0.562000 18 59 0 0 1 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821650 129821650 + RNA SNP G G A rs56088005 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:129821650G>A ENST00000500074.2 - 0 495 GGTTGCGGACGGTAAAGGCCA 0.667000 8 111 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228405 204228405 + Missense_Mutation SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:204228405G>T ENST00000272203.3 - 8 1304 c.988C>A c.(988-990)Ccg>Acg p.P330T PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P350T NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 330 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TCTTCAGGCGGGGGTACCCCC 0.622000 17 58 2.94398e-08 2.96769e-08 1 1 0 ROBO1 6091 broad.mit.edu 37 3 78695301 78695301 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:78695301C>T ENST00000436010.2 - 19 3759 c.2762G>A c.(2761-2763)gGg>gAg p.G921E ROBO1_ENST00000467549.1_Missense_Mutation_p.G915E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G960E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G915E Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 960 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TAATTACCTCCCTCCACTGCT 0.348000 26 67 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854502 18854502 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:18854502C>T ENST00000538330.1 - 5 677 c.296G>A c.(295-297)gGa>gAa p.G99E PLCZ1_ENST00000539875.1_Splice_Site_p.G124_splice|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Splice_Site_p.G317_splice|PLCZ1_ENST00000435379.1_Splice_Site_p.G122_splice|PLCZ1_ENST00000447925.2_Splice_Site_p.G315_splice|PLCZ1_ENST00000541695.1_Splice_Site_p.G180_splice Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 317 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTGATTGTCTCCTAAAACAGA 0.433000 30 70 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6462112 6462112 + Splice_Site SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6462112G>A ENST00000265983.3 - 1 182 c.83_splice c.e1+1 p.P28_splice HPX_ENST00000525057.1_Intron NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 28 O-glycosylated at one, two and three sites. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TTTACTCACGGAGGAAGAGGG 0.572000 6 20 0 0 1 0 0 OCM 654231 broad.mit.edu 37 7 5922155 5922155 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:5922155C>T ENST00000242104.5 + 2 185 c.93C>T c.(91-93)ttC>ttT p.F31F OCM_ENST00000416608.1_Silent_p.F31F NM_001097622.1 NP_001091091.1 P0CE72 ONCO_HUMAN oncomodulin 31 calcium ion binding endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) AAAAATTCTTCCAGACATCAG 0.458000 84 215 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44489600 44489600 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:44489600G>A ENST00000425708.2 - 7 1904 c.1563C>T c.(1561-1563)gcC>gcT p.A521A ZNF445_ENST00000396077.2_Silent_p.A521A P59923 ZN445_HUMAN zinc finger protein 445 521 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TCCACCGGAAGGCTTTCCCAC 0.468000 28 109 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 70 92 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847091 7847091 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:7847091G>A ENST00000328375.1 - 1 428 c.429C>T c.(427-429)atC>atT p.I143I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGCCCACTAAGATGATGCAGA 0.517000 22 81 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45386459 45386459 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:45386459G>A ENST00000389039.6 - 34 4921 c.4536C>T c.(4534-4536)atC>atT p.I1512I DUOX2_ENST00000603300.1_Silent_p.I1512I Q9NRD8 DUOX2_HUMAN dual oxidase 2 1512 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TGAACACCCCGATCTTGCGCA 0.572000 12 48 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178372732 178372732 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:178372732C>T ENST00000264167.4 + 16 1726 c.1580C>T c.(1579-1581)tCt>tTt p.S527F AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 527 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TTAGGAGAATCTTTTGAGACT 0.323000 20 83 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62361448 62361448 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:62361448G>A ENST00000278823.2 - 18 2295 c.1906C>T c.(1906-1908)Ctg>Ttg p.L636L MTA2_ENST00000527204.1_Silent_p.L463L|MTA2_ENST00000524902.1_Silent_p.L463L NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 636 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 TTCACCTTCAGGGGCAAGTTG 0.597000 OREG0021027 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 86 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30701805 30701805 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:30701805C>T ENST00000471646.1 - 7 1142 c.725G>A c.(724-726)tGg>tAg p.W242* CRHR2_ENST00000341843.4_Nonsense_Mutation_p.W228*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.W242*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.W269* NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 242 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCGATGGCCCAGGCGACGAT 0.562000 24 65 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33626514 33626514 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:33626514A>G ENST00000374316.5 + 6 1497 c.437A>G c.(436-438)aAc>aGc p.N146S ITPR3_ENST00000605930.1_Missense_Mutation_p.N146S Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 146 MIR 1. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CTGGAGAAGAACGCCATGCGG 0.612000 45 174 0 0 1 0 0 AP1M1 8907 broad.mit.edu 37 19 16338446 16338446 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:16338446C>T ENST00000291439.3 + 7 1210 c.761C>T c.(760-762)tCc>tTc p.S254F AP1M1_ENST00000590756.1_Missense_Mutation_p.S182F|AP1M1_ENST00000444449.2_Missense_Mutation_p.S266F|AP1M1_ENST00000541844.1_Missense_Mutation_p.S182F|AP1M1_ENST00000429941.2_Missense_Mutation_p.S254F NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 254 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 CGCACCATCTCCTTCATCCCA 0.617000 62 132 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957568 111957568 + Missense_Mutation SNP G G A rs113984808 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:111957568G>A ENST00000369732.3 - 11 1610 c.1555C>T c.(1555-1557)Cct>Tct p.P519S NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 519 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TTTTCCCCAGGGGTCACAGAC 0.567000 47 55 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438295 25438295 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:25438295G>A ENST00000424208.1 + 0 1154 SNHG14_ENST00000414175.1_RNA NR_003305.1 GAGCCTGGAGGAAGACTTGAA 0.592000 6 21 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24166055 24166055 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:24166055C>T ENST00000303531.7 + 10 1268 c.1116C>T c.(1114-1116)atC>atT p.I372I PRKCB_ENST00000321728.7_Silent_p.I372I NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 372 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTGTGAAGATCCTGAAGAAGG 0.557000 14 44 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885750 60885750 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:60885750G>A ENST00000252999.3 - 75 10483 c.10417C>T c.(10417-10419)Ccg>Tcg p.P3473S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3473 Laminin G-like 4. 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) CTGCTGGCCGGGAGGCCGCCC 0.711000 6 16 0 0 1 0 0 WDR73 84942 broad.mit.edu 37 15 85188820 85188820 + Silent SNP G G C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:85188820G>C ENST00000434634.2 - 7 825 c.765C>G c.(763-765)ccC>ccG p.P255P WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 255 cervix(1)|large_intestine(1)|lung(1) 3 AGAGATCCCGGGGGTCAAGAA 0.622000 7 15 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142457350 142457350 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142457350G>A ENST00000486171.1 + 1 32 c.15G>A c.(13-15)ctG>ctA p.L5L PRSS1_ENST00000311737.7_Silent_p.L5L P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 5 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATCCACTCCTGATCCTTACCT 0.567000 38 169 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10435402 10435402 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:10435402C>T ENST00000377086.1 + 48 5581 c.5379C>T c.(5377-5379)gcC>gcT p.A1793A KIF1B_ENST00000263934.6_Silent_p.A1747A|KIF1B_ENST00000377081.1_Silent_p.A1793A O60333 KIF1B_HUMAN kinesin family member 1B 1793 PH. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GGTTGTATGCCTTCAACCCAC 0.458000 49 118 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825445 21825445 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:21825445C>T ENST00000426869.3 + 0 149 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) cctgacttctccacggggtac 0.642000 8 33 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174820388 174820388 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:174820388C>T ENST00000310015.6 - 4 1382 c.852G>A c.(850-852)caG>caA p.Q284Q SP3_ENST00000418194.2_Silent_p.Q216Q|SP3_ENST00000455789.2_Silent_p.Q231Q NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 284 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CAGTCATTGTCTGAGAACTGC 0.443000 31 148 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765341 19765341 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:19765341C>T ENST00000405844.1 - 3 950 c.255G>A c.(253-255)ctG>ctA p.L85L TMEM196_ENST00000433641.1_Silent_p.L17L|TMEM196_ENST00000493519.1_Silent_p.L17L|TMEM196_ENST00000422233.1_Silent_p.L17L|TMEM196_ENST00000405764.3_Silent_p.L85L Q5HYL7 TM196_HUMAN transmembrane protein 196 91 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 ACTGAAAATTCAGGATGCCCC 0.493000 23 70 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44072484 44072484 + Splice_Site SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:44072484G>A ENST00000359947.4 + 21 4042 c.e21-1 PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCGGGCCACAGAAGCGCTATG 0.627000 28 105 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3784082 3784082 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:3784082C>T ENST00000245960.5 + 14 2085 c.1388C>T c.(1387-1389)gCc>gTc p.A463V CDC25B_ENST00000439880.2_Missense_Mutation_p.A449V|CDC25B_ENST00000340833.4_Missense_Mutation_p.A422V|CDC25B_ENST00000379598.5_Missense_Mutation_p.A372V|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.A399V NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 463 Rhodanese. cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 GAACGCGACGCCGAGAGCTTC 0.627000 26 58 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092452 35092452 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:35092452G>A ENST00000378617.3 - 7 1826 c.1432C>T c.(1432-1434)Cca>Tca p.P478S PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.P478S NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 478 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGGCAGAATGGAAAGCCTGGG 0.567000 42 70 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453126 195453126 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195453126C>T ENST00000320736.6 + 3 1265 c.1139C>T c.(1138-1140)cCg>cTg p.P380L MUC20_ENST00000445522.2_Missense_Mutation_p.P516L|MUC20_ENST00000447234.2_Missense_Mutation_p.P551L|MUC20_ENST00000436408.1_Missense_Mutation_p.P551L NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 551 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GGAGCAGCTCCGGTCTCCATA 0.552000 8 66 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946003 144946003 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:144946003C>T ENST00000525985.1 - 2 1490 c.1419G>A c.(1417-1419)cgG>cgA p.R473R P58107 EPIPL_HUMAN epiplakin 1 473 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCCCCTCCCCGGGGTCCCC 0.692000 12 21 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463672 25463672 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:25463672C>T ENST00000424208.1 + 0 2955 SNHG14_ENST00000453082.2_RNA NR_003305.1 AAGCTCCAGCCCTTCCTGGTG 0.602000 45 117 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756559 94756559 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:94756559G>A ENST00000554723.1 - 2 910 c.492C>T c.(490-492)atC>atT p.I164I SERPINA10_ENST00000393096.1_Silent_p.I124I|SERPINA10_ENST00000261994.4_Silent_p.I124I|SERPINA10_ENST00000554173.1_Silent_p.I124I Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 124 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GCCCTCTCTTGATCTGGGTTT 0.597000 22 56 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50897070 50897070 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:50897070C>T ENST00000313478.7 - 21 3262 c.2981G>A c.(2980-2982)gGa>gAa p.G994E TRPM7_ENST00000560955.1_Missense_Mutation_p.G994E NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 994 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TACCATTTTTCCAATCATCAT 0.299000 9 43 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272390 1272390 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:1272390C>T ENST00000447027.1 + 31 14347 c.14289C>T c.(14287-14289)acC>acT p.T4763T MUC5B_ENST00000529681.1_Silent_p.T4760T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4760 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCTGTGGACCACGTGGACCG 0.582000 17 74 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73574739 73574739 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:73574739G>A ENST00000224721.6 + 69 9789 c.9784G>A c.(9784-9786)Gga>Aga p.G3262R CDH23_ENST00000398788.3_Missense_Mutation_p.G1017R|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3257 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CGAGGAGCCAGGAGACCACAG 0.667000 9 15 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138658408 138658408 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:138658408G>A ENST00000394800.2 + 16 2449 c.1900G>A c.(1900-1902)Gat>Aat p.D634N MATR3_ENST00000503811.1_Missense_Mutation_p.D346N|MATR3_ENST00000504203.1_Missense_Mutation_p.D296N|MATR3_ENST00000509990.1_Missense_Mutation_p.D634N|MATR3_ENST00000510056.1_Missense_Mutation_p.D634N|MATR3_ENST00000361059.2_Missense_Mutation_p.D634N|MATR3_ENST00000394805.3_Missense_Mutation_p.D634N|MATR3_ENST00000502499.1_Missense_Mutation_p.D296N|MATR3_ENST00000502929.1_Missense_Mutation_p.D634N P43243 MATR3_HUMAN matrin 3 634 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTCCGGTGAAGATGGTGAGAA 0.428000 25 40 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70048327 70048327 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:70048327C>T ENST00000358769.2 - 8 806 c.604G>A c.(604-606)Gga>Aga p.G202R PBLD_ENST00000336578.1_Missense_Mutation_p.G169R|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000309049.4_Missense_Mutation_p.G202R|PBLD_ENST00000432941.1_Missense_Mutation_p.G202R|PBLD_ENST00000277795.4_3'UTR NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 202 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCAGGCTCTCCTTTAAGGGTA 0.458000 15 42 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49920509 49920509 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:49920509C>T ENST00000447857.3 + 19 1738 c.1533C>T c.(1531-1533)ccC>ccT p.P511P NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 511 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TCTGCCTGCCCCCACAGCGGC 0.652000 3 15 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 28807516 28807516 + Nonsense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:28807516T>A ENST00000378993.1 + 2 729 c.56T>A c.(55-57)tTg>tAg p.L19* IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.L19* NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 19 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ACTCAGAGTTTGAAGGTTGTG 0.383000 28 23 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546416 11546416 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:11546416C>T ENST00000389362.4 - 3 631 c.596G>A c.(595-597)gGa>gAa p.G199E PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGAGG 0.597000 67 462 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88442785 88442785 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:88442785G>A ENST00000261304.2 - 7 775 c.669C>T c.(667-669)atC>atT p.I223I GALC_ENST00000544807.2_Silent_p.I167I|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Silent_p.I200I|GALC_ENST00000393569.2_Silent_p.I197I NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 223 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTTGCTATGATTTTCACTC 0.378000 19 40 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66942342 66942342 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:66942342C>T ENST00000299752.4 - 18 2636 c.2443G>A c.(2443-2445)Gac>Aac p.D815N CDH16_ENST00000570262.1_Missense_Mutation_p.D735N|CDH16_ENST00000394055.3_Missense_Mutation_p.D793N|CDH16_ENST00000565796.1_Missense_Mutation_p.D776N|CDH16_ENST00000568632.1_Missense_Mutation_p.D718N NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 815 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGATCCGGGTCCTTCTTCCTT 0.587000 14 79 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 50 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35441163 35441163 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:35441163G>A ENST00000237536.4 - 6 2742 c.2401C>T c.(2401-2403)Ccc>Tcc p.P801S SOGA1_ENST00000279034.5_Missense_Mutation_p.P563S|SOGA1_ENST00000357779.3_Missense_Mutation_p.P563S|SOGA1_ENST00000456801.2_Missense_Mutation_p.P404S NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 563 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CTCCGGCTGGGGTCGGGCTTA 0.602000 13 20 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338397 13338397 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:13338397C>T ENST00000602906.1 + 0 415 kidney(3)|lung(1) 4 CAAAGCTGATCTCATAAATAA 0.438000 38 77 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85562048 85562048 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:85562048G>A ENST00000295887.5 + 10 1360 c.937G>A c.(937-939)Gat>Aat p.D313N NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 313 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ATACCGAAGTGATGTAAACTC 0.403000 65 158 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45048923 45048923 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:45048923G>A ENST00000265564.7 + 7 675 c.627G>A c.(625-627)cgG>cgA p.R209R CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 209 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) TTGGCTATCGGCATGTGGTGG 0.612000 13 24 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477563 88477563 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:88477563C>T ENST00000267549.3 + 2 930 c.372C>T c.(370-372)ttC>ttT p.F124F RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 124 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AGTTTTTTTTCCTAAGGACAA 0.418000 81 164 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228434484 228434484 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228434484C>T ENST00000570156.2 + 14 4363 c.4289C>T c.(4288-4290)tCc>tTc p.S1430F OBSCN_ENST00000284548.11_Missense_Mutation_p.S1338F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1338F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 413 Ig-like 14. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGCGGCTCTCCTTCCACCTG 0.592000 53 112 0 0 1 0 0 CFC1 55997 broad.mit.edu 37 2 131356259 131356259 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:131356259C>T ENST00000259216.4 - 3 465 c.203G>A c.(202-204)tGg>tAg p.W68* NM_032545.3 NP_115934.1 P0CG37 CFC1_HUMAN cripto, FRL-1, cryptic family 1 68 determination of left/right symmetry|gastrulation anchored to membrane|extracellular region|plasma membrane endometrium(1)|lung(4) 5 Colorectal(110;0.1) CTCCGGCCCCCAGCCCTCGGC 0.627000 11 98 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084790 9084790 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9084790G>A ENST00000397910.4 - 1 7228 c.7025C>T c.(7024-7026)tCa>tTa p.S2342L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2342 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2342L(2) 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 ATTATCCAGTGAAACTGTGCT 0.463000 18 21 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43859739 43859739 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:43859739G>A ENST00000378009.4 + 0 421 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CAGCAAAAGTGGGGTGCAGAG 0.527000 7 23 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10166414 10166414 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:10166414C>T ENST00000495140.1 + 0 1772 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GGAGAAGGGCCCTGTGGTCAT 0.562000 17 39 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819167 20819167 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:20819167G>A ENST00000328879.4 - 4 1246 c.1090C>T c.(1090-1092)Cga>Tga p.R364* KLHL22_ENST00000440659.2_Nonsense_Mutation_p.R221* NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 364 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GACTCTGCTCGAAATCCTTGG 0.567000 30 97 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133925499 133925499 + Missense_Mutation SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:133925499G>T ENST00000220616.4 + 20 4407 c.4367G>T c.(4366-4368)gGa>gTa p.G1456V TG_ENST00000377869.1_Missense_Mutation_p.G1456V NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1456 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGTCAGGACGGACTGGGATGC 0.572000 20 38 8.00594e-06 8.03805e-06 1 1 0 FLNB 2317 broad.mit.edu 37 3 58104641 58104641 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:58104641C>T ENST00000357272.4 + 19 2953 c.2788C>T c.(2788-2790)Cct>Tct p.P930S FLNB_ENST00000493452.1_Missense_Mutation_p.P761S|FLNB_ENST00000295956.4_Missense_Mutation_p.P930S|FLNB_ENST00000490882.1_Missense_Mutation_p.P930S|FLNB_ENST00000429972.2_Missense_Mutation_p.P930S|FLNB_ENST00000419752.2_Missense_Mutation_p.P761S|FLNB_ENST00000348383.5_Missense_Mutation_p.P930S|FLNB_ENST00000358537.3_Missense_Mutation_p.P930S O75369 FLNB_HUMAN filamin B, beta 930 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGATCCCATCCCTAAAAGCCC 0.478000 43 91 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39550372 39550372 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:39550372C>T ENST00000251645.2 - 7 1199 c.1147G>A c.(1147-1149)Gga>Aga p.G383R NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 383 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) AGACAGGGTCCGATGGGCTTG 0.572000 21 56 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316221 72316221 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:72316221G>A ENST00000340595.3 + 7 1233 c.1037G>A c.(1036-1038)aGg>aAg p.R346K SLC4A4_ENST00000512686.1_Missense_Mutation_p.R346K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R390K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R390K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.R390K NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 390 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCAGCAATTAGGATAGAGCCT 0.438000 20 40 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661022 35661022 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:35661022C>T ENST00000216106.5 + 5 769 c.641C>T c.(640-642)cCc>cTc p.P214L HMGXB4_ENST00000444518.2_Missense_Mutation_p.P105L NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 214 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 TTTCAATATCCCTCCCAACAA 0.443000 66 160 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367842 142367842 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:142367842C>T ENST00000377741.3 - 2 272 c.182G>A c.(181-183)gGa>gAa p.G61E NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 61 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GAAGATGGCTCCGTGCACCGC 0.657000 17 45 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169764269 169764269 + Missense_Mutation SNP C C T rs147360987 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:169764269C>T ENST00000375363.3 + 5 840 c.748C>T c.(748-750)Cac>Tac p.H250Y SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 250 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 CGACTGGATCCACATTGACAC 0.527000 20 73 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7768994 7768994 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:7768994C>T ENST00000358415.4 + 10 1232 c.1066C>T c.(1066-1068)Cga>Tga p.R356* ITIH2_ENST00000379587.4_Nonsense_Mutation_p.R345* NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 356 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCAGAACATTCGAACTTGGAG 0.398000 37 60 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089176 220089176 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:220089176C>T ENST00000366926.3 - 4 1234 c.1073G>A c.(1072-1074)gGa>gAa p.G358E SLC30A10_ENST00000536446.1_Missense_Mutation_p.G113E|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 358 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ATCTTGATATCCCCTGTCCTT 0.458000 51 134 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179590734 179590734 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179590734G>A ENST00000589042.1 - 70 20539 c.20315C>T c.(20314-20316)aCc>aTc p.T6772I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T5528I|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T6455I|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6455 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) ATTTTTAAGGGTTTCTACTAT 0.403000 8 45 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611589 61611589 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:61611589C>T ENST00000583023.1 + 5 1029 c.1018C>T c.(1018-1020)Cac>Tac p.H340Y KCNH6_ENST00000580652.1_Missense_Mutation_p.H340Y|KCNH6_ENST00000314672.5_Missense_Mutation_p.H340Y|KCNH6_ENST00000581784.1_Missense_Mutation_p.H340Y|KCNH6_ENST00000456941.2_Missense_Mutation_p.H340Y NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 340 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CATCGCCGTCCACTACTTCAA 0.587000 35 57 0 0 1 0 0 DEFB131 644414 broad.mit.edu 37 4 9446267 9446267 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:9446267T>C ENST00000334879.1 + 1 8 c.8T>C c.(7-9)gTc>gCc p.V3A NM_001040448.2|NM_001242853.1 NP_001035538.2|NP_001229782.1 P59861 DB131_HUMAN defensin, beta 131 3 defense response to bacterium extracellular region lung(2) 2 ACCATGAGGGTCTTGTTTTTT 0.373000 74 109 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127912080 127912080 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:127912080G>A ENST00000451402.1 - 8 1121 c.901C>T c.(901-903)Cgt>Tgt p.R301C PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 264 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.R264C(3)|p.R301C(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTTCCACAACGATAGCAGTAA 0.403000 21 32 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356304 40356304 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:40356304G>A ENST00000310169.2 + 5 1346 c.1207G>A c.(1207-1209)Gac>Aac p.D403N NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 403 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CTTAAAGAACGACCTGGGCTG 0.483000 36 46 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19359662 19359662 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:19359662G>A ENST00000252575.5 + 14 3834 c.3791G>A c.(3790-3792)tGg>tAg p.W1264* NCAN_ENST00000538881.1_Nonsense_Mutation_p.W715* NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1264 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AATGGCAAGTGGGACAGGCCC 0.473000 10 63 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139151309 139151309 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:139151309G>A ENST00000395297.1 - 18 3991 c.3821C>T c.(3820-3822)tCc>tTc p.S1274F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1274 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAGAGACCCGGATTTCTTCAG 0.398000 HNSCC(54;0.14) 21 96 0 0 1 0 0 AACSP1 729522 broad.mit.edu 37 5 178199631 178199631 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:178199631C>T ENST00000503486.2 - 0 904 NR_024035.1 CAAAGGAGTCCACTGTGGAGA 0.607000 4 13 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369244 20369244 + RNA SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:20369244T>C ENST00000593655.1 - 0 199 ACGATCAATGTTAGAAGTTAA 0.403000 51 128 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35695516 35695516 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:35695516G>A ENST00000373664.3 - 5 631 c.565C>T c.(565-567)Cgg>Tgg p.R189W RBL1_ENST00000344359.3_Missense_Mutation_p.R189W NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 189 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CCAATCATCCGAAAATTACCT 0.353000 23 66 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70963633 70963633 + Missense_Mutation SNP G G C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:70963633G>C ENST00000334414.6 - 14 3500 c.3456C>G c.(3454-3456)gaC>gaG p.D1152E PTPRB_ENST00000550358.1_Missense_Mutation_p.D1064E|PTPRB_ENST00000538708.1_Missense_Mutation_p.D934E|PTPRB_ENST00000550857.1_Missense_Mutation_p.D844E|PTPRB_ENST00000451516.2_Missense_Mutation_p.D844E|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1151E|PTPRB_ENST00000261266.5_Missense_Mutation_p.D934E NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 934 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGAATCAACGTCTCCCCCAC 0.478000 23 41 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626297 12626297 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:12626297G>A ENST00000425538.1 + 5 587 c.387G>A c.(385-387)gtG>gtA p.V129V MYOCD_ENST00000395988.1_Silent_p.V33V|MYOCD_ENST00000343344.4_Silent_p.V129V NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 129 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCTTCCTGTGGATTCTGCTG 0.478000 50 133 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40275410 40275410 + Missense_Mutation SNP A A T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:40275410A>T ENST00000302541.6 + 12 2308 c.1966A>T c.(1966-1968)Aca>Tca p.T656S MYRIP_ENST00000444716.1_Missense_Mutation_p.T656S|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Missense_Mutation_p.T567S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.T469S NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 656 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CATCAATGCCACAGAGGAGTT 0.507000 27 62 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056249 44056249 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:44056249G>A ENST00000262887.5 - 9 1549 c.1002C>T c.(1000-1002)ttC>ttT p.F334F XRCC1_ENST00000543982.1_Silent_p.F303F P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 334 BRCT 1. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) GCTCGGAGCGGAAGGGGTTCT 0.647000 Other BER factors 11 60 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166897748 166897748 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:166897748C>T ENST00000423058.2 - 13 2425 c.2408G>A c.(2407-2409)gGa>gAa p.G803E SCN1A_ENST00000303395.4_Missense_Mutation_p.G803E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G792E|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G775E|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 803 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TACCAAGTTTCCTACTGTAAG 0.363000 13 68 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16470714 16470714 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:16470714G>A ENST00000395824.1 - 2 949 c.332C>T c.(331-333)tCc>tTc p.S111F ZNF287_ENST00000395825.3_Missense_Mutation_p.S111F Q9HBT7 ZN287_HUMAN zinc finger protein 287 104 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TGGATACTGGGACTTTACCCA 0.502000 37 99 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228433355 228433355 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228433355G>A ENST00000570156.2 + 13 4073 c.3999G>A c.(3997-3999)ggG>ggA p.G1333G OBSCN_ENST00000284548.11_Silent_p.G1241G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G1241G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 314 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCGAGGCTGGGGGCCAGAGAG 0.512000 37 107 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432818 179432818 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179432818G>A ENST00000589042.1 - 326 78265 c.78041C>T c.(78040-78042)cCa>cTa p.P26014L TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16949L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23446L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24373L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17141L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24373 Fibronectin type-III 89. 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) ATTGTTGACTGGTTCATGCCA 0.443000 10 80 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938469 38938469 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:38938469G>A ENST00000302328.3 - 14 2468 c.2270C>T c.(2269-2271)tCc>tTc p.S757F SCN11A_ENST00000444237.2_Missense_Mutation_p.S757F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S757F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S757F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 757 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CACTAGGAAGGAGTGCCAGAA 0.488000 27 68 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52570057 52570057 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:52570057C>T ENST00000395961.3 - 11 1760 c.1594G>A c.(1594-1596)Gac>Aac p.D532N BCAS1_ENST00000371440.3_Missense_Mutation_p.D541N|BCAS1_ENST00000371435.2_Missense_Mutation_p.D454N|BCAS1_ENST00000434986.2_Missense_Mutation_p.D198N NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 532 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GAGTTCGTGTCCACCGTGGCC 0.542000 32 102 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054402 102054402 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:102054402A>G ENST00000318222.3 - 9 1931 c.1549T>C c.(1549-1551)Ttc>Ctc p.F517L PKD2L1_ENST00000353274.3_Missense_Mutation_p.F517L|PKD2L1_ENST00000338519.3_Missense_Mutation_p.F442L NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 517 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) ATTATCCGGAACTGAGTGAAA 0.512000 7 100 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22782762 22782762 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:22782762G>A ENST00000400546.1 + 10 1613 c.1364G>A c.(1363-1365)gGa>gAa p.G455E NCAM2_ENST00000284894.7_Missense_Mutation_p.G313E NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 455 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TATAGTACAGGAAGAAAGATG 0.294000 32 101 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617037 1617037 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:1617037C>T ENST00000381580.1 - 3 625 c.446G>A c.(445-447)tGg>tAg p.W149* SIRPG_ENST00000303415.3_Nonsense_Mutation_p.W182*|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Nonsense_Mutation_p.W182*|SIRPG_ENST00000216927.4_Nonsense_Mutation_p.W182*|RP11-77C3.3_ENST00000456177.1_RNA Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 182 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 ATTTTTGAACCATTTCAGGGT 0.567000 26 95 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1392547 1392547 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:1392547G>A ENST00000378785.2 + 8 1723 c.728G>A c.(727-729)cGg>cAg p.R243Q NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 243 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 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;9.48e-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)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCTTCCTTCGGAAGCGAGCC 0.642000 42 37 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2326779 2326779 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:2326779C>T ENST00000301732.5 - 33 5711 c.5011G>A c.(5011-5013)Gaa>Aaa p.E1671K ABCA3_ENST00000382381.3_Missense_Mutation_p.E1613K NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1671 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCGTACTTTTCCTTGGCTTTC 0.602000 17 53 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043600 20043600 + Missense_Mutation SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:20043600G>T ENST00000570682.1 - 2 819 c.519C>A c.(517-519)gaC>gaA p.D173E NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 173 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGCTGATGTAGTCTTCAGTCC 0.512000 26 62 4.26978e-12 4.32157e-12 1 1 0 C7 730 broad.mit.edu 37 5 40936475 40936475 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:40936475G>A ENST00000313164.9 + 5 675 c.316G>A c.(316-318)Gat>Aat p.D106N NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 106 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TTGCAATGGGGATTCTGACTG 0.453000 12 37 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47969758 47969758 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:47969758C>T ENST00000318711.7 + 22 2783 c.2600C>T c.(2599-2601)tCg>tTg p.S867L DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S866L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 866 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CCGGATGCCTCGGAGGAGGAC 0.642000 6 101 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96116935 96116935 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:96116935C>T ENST00000371361.3 - 4 604 c.504G>A c.(502-504)aaG>aaA p.K168K NOC3L_ENST00000371350.1_Silent_p.K168K|NOC3L_ENST00000463649.1_5'UTR NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 168 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ACTCACCTGGCTTCTCCCTAG 0.323000 46 80 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7808948 7808948 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:7808948A>G ENST00000380358.4 + 27 4326 c.4325A>G c.(4324-4326)cAg>cGg p.Q1442R CHD3_ENST00000358181.4_Missense_Mutation_p.Q1383R|CHD3_ENST00000330494.7_Missense_Mutation_p.Q1383R NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1383 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGGCGTAGACAGTCAAAGAGG 0.567000 6 8 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90050957 90050957 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:90050957G>A ENST00000405460.2 + 55 11631 c.11535G>A c.(11533-11535)atG>atA p.M3845I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3845 Calx-beta 25. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAATAATAATGAAAGAAAACA 0.343000 15 52 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133636 91133636 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:91133636G>A ENST00000373094.1 + 2 3242 c.2397G>A c.(2395-2397)gaG>gaA p.E799E PCDH11X_ENST00000361724.1_Silent_p.E799E|PCDH11X_ENST00000406881.1_Silent_p.E799E|PCDH11X_ENST00000373097.1_Silent_p.E799E|PCDH11X_ENST00000361655.2_Silent_p.E799E|PCDH11X_ENST00000504220.1_Silent_p.E799E|PCDH11X_ENST00000395337.2_Silent_p.E799E|PCDH11X_ENST00000298274.8_Silent_p.E799E|PCDH11X_ENST00000373088.1_Silent_p.E799E NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 799 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAAATACTGAGATAGCTGATG 0.443000 60 36 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024398 76024398 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:76024398G>A ENST00000393004.2 - 5 1371 c.1150C>T c.(1150-1152)Cga>Tga p.R384* FILIP1_ENST00000370020.1_Nonsense_Mutation_p.R285*|FILIP1_ENST00000237172.7_Nonsense_Mutation_p.R384*|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 384 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ACACGCTTTCGAAGATTTTCC 0.418000 42 194 0 0 1 0 0 C22orf23 84645 broad.mit.edu 37 22 38340502 38340502 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:38340502C>T ENST00000249079.2 - 6 760 c.504G>A c.(502-504)agG>agA p.R168R C22orf23_ENST00000403026.1_Silent_p.R168R|C22orf23_ENST00000403305.1_Silent_p.R168R Q9BZE7 EVG1_HUMAN chromosome 22 open reading frame 23 168 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) GGAATTCTTTCCTCTCCTGGA 0.547000 26 65 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118786967 118786967 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:118786967G>A ENST00000394610.1 - 4 642 c.378C>T c.(376-378)ttC>ttT p.F126F SEPT6_ENST00000489216.1_Silent_p.F126F|SEPT6_ENST00000394616.4_Silent_p.F68F|SEPT6_ENST00000354228.4_Silent_p.F126F|SEPT6_ENST00000360156.7_Silent_p.F126F|SEPT6_ENST00000354416.3_Silent_p.F126F|SEPT6_ENST00000394617.2_Silent_p.F156F|SEPT6_ENST00000343984.5_Silent_p.F126F NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 126 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GGTAGGCCTCGAATTGTGCAT 0.502000 T MLL AML 28 15 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43222803 43222803 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:43222803G>A ENST00000259750.4 + 7 676 c.593G>A c.(592-594)gGg>gAg p.G198E TTBK1_ENST00000304139.5_Missense_Mutation_p.G147E NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 198 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AATGTGGCCGGGTTTCGAGGA 0.597000 17 36 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126303 121126303 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:121126303C>T ENST00000273666.6 + 24 3144 c.2873C>T c.(2872-2874)gCc>gTc p.A958V STXBP5L_ENST00000471454.1_Missense_Mutation_p.A934V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A932V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A958V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A934V NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 958 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GAAAAACAAGCCAAAGTCTTC 0.388000 56 124 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453125 195453125 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195453125C>T ENST00000320736.6 + 3 1264 c.1138C>T c.(1138-1140)Ccg>Tcg p.P380S MUC20_ENST00000445522.2_Missense_Mutation_p.P516S|MUC20_ENST00000447234.2_Missense_Mutation_p.P551S|MUC20_ENST00000436408.1_Missense_Mutation_p.P551S NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 551 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AGGAGCAGCTCCGGTCTCCAT 0.552000 8 65 0 0 1 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55246750 55246750 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:55246750G>A ENST00000291860.1 + 6 998 c.980G>A c.(979-981)gGg>gAg p.G327E KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 327 integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTTCTGATTGGGACCTCAGTG 0.458000 35 76 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679259 176679259 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:176679259G>A ENST00000367662.3 + 11 4762 c.3598G>A c.(3598-3600)Gaa>Aaa p.E1200K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1200 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCCTCTCATGAAGACAAGAA 0.443000 46 79 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473026 22473026 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:22473026G>A ENST00000557788.2 - 0 244 ACTCTTGAGGGACGGGTTGTA 0.567000 44 463 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10228260 10228260 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:10228260C>T ENST00000377157.3 + 23 3591 c.2530C>T c.(2530-2532)Ctg>Ttg p.L844L UBE4B_ENST00000343090.6_Silent_p.L1089L|UBE4B_ENST00000253251.8_Silent_p.L960L NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1089 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTACCTCGCCCTGGCCACCGA 0.582000 11 38 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153416195 153416195 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:153416195G>A ENST00000369951.4 + 2 240 c.180G>A c.(178-180)atG>atA p.M60I OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 60 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGTCTGGATGATCTTTGTGG 0.577000 35 36 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148768537 148768537 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:148768537G>A ENST00000316286.9 - 3 1341 c.1069C>T c.(1069-1071)Cac>Tac p.H357Y ZNF786_ENST00000491431.1_Missense_Mutation_p.H443Y|ZNF786_ENST00000451334.3_Missense_Mutation_p.H406Y Q8N393 ZN786_HUMAN zinc finger protein 786 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTCGAATGTGCTCCGTGAGT 0.632000 13 35 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53457582 53457582 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:53457582C>T ENST00000314250.6 + 29 4436 c.4146C>T c.(4144-4146)caC>caT p.H1382H TENC1_ENST00000546602.1_Silent_p.H1285H|TENC1_ENST00000314276.3_Silent_p.H1392H|TENC1_ENST00000379902.3_Silent_p.H1258H|TENC1_ENST00000552570.1_Silent_p.H1380H|TENC1_ENST00000451358.1_Silent_p.H1372H|TENC1_ENST00000549700.1_Silent_p.H1317H NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1382 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 ATGTGTGTCACCTCTTTGCAG 0.532000 67 161 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49227424 49227424 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:49227424C>T ENST00000327979.2 - 6 791 c.380G>A c.(379-381)aGg>aAg p.R127K FAM65C_ENST00000535356.1_Missense_Mutation_p.R131K|FAM65C_ENST00000045083.2_Missense_Mutation_p.R127K Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 127 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCGAATGTGCCTTTCCACACA 0.597000 6 99 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112399743 112399743 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:112399743G>A ENST00000302475.4 - 12 2144 c.1581C>T c.(1579-1581)gcC>gcT p.A527A MCC_ENST00000408903.3_Silent_p.A717A|MCC_ENST00000515367.2_Silent_p.A464A|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 527 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCACGGCAAAGGCTCCCCCAC 0.622000 21 58 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42682973 42682973 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:42682973G>A ENST00000358131.5 + 5 921 c.713G>A c.(712-714)gGa>gAa p.G238E TOX2_ENST00000423191.1_Missense_Mutation_p.G187E|TOX2_ENST00000372999.1_Missense_Mutation_p.G187E|TOX2_ENST00000435864.2_Missense_Mutation_p.G107E|TOX2_ENST00000341197.3_Missense_Mutation_p.G229E NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCCGACCCAGGAAAAAAGGCC 0.537000 10 24 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62371076 62371076 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:62371076G>A ENST00000519846.1 + 6 1424 c.952G>A c.(952-954)Gaa>Aaa p.E318K CLVS1_ENST00000325897.4_Missense_Mutation_p.E318K|CLVS1_ENST00000518592.1_Missense_Mutation_p.E39K Q8IUQ0 CLVS1_HUMAN clavesin 1 318 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCTGGAGAGAGAATGCTCACC 0.473000 23 23 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966991 41966991 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:41966991G>A ENST00000298919.7 + 10 2018 c.1630G>A c.(1630-1632)Gct>Act p.A544T PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 804 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGGTTGTAGCGCTGAAAGCAA 0.517000 37 133 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132433955 132433955 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:132433955G>A ENST00000326682.8 - 5 1007 c.931C>T c.(931-933)Cag>Tag p.Q311* NPHP3_ENST00000337331.5_Nonsense_Mutation_p.Q311*|NPHP3_ENST00000476742.1_5'UTR Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 311 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATCTCAGGCTGGGTTTCATCT 0.323000 42 124 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216495 20216495 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:20216495G>A ENST00000331723.1 + 1 909 c.909G>A c.(907-909)agG>agA p.R303R NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGAAGCTGAGGATAAAACCAT 0.388000 6 96 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936681 15936681 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:15936681G>A ENST00000504595.1 + 4 1343 c.862G>A c.(862-864)Gaa>Aaa p.E288K FBXL7_ENST00000329673.7_Missense_Mutation_p.E276K|FBXL7_ENST00000510662.1_Missense_Mutation_p.E241K NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 288 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCTGGAGGACGAAGGCCTGCA 0.622000 14 34 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55926911 55926911 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:55926911C>T ENST00000313447.1 - 1 882 c.883G>A c.(883-885)Gaa>Aaa p.E295K NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TTCACCTCTTCGTTTCTTAAG 0.303000 17 41 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6138607 6138607 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:6138607C>T ENST00000261405.5 - 22 3122 c.2868G>A c.(2866-2868)gtG>gtA p.V956V NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 956 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGCCAGACTCCACCACCTCAA 0.567000 31 59 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126137312 126137312 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:126137312G>A ENST00000393425.1 + 6 532 c.433G>A c.(433-435)Gag>Aag p.E145K CCDC37_ENST00000352312.1_Missense_Mutation_p.E144K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E145K Q494V2 CCD37_HUMAN coiled-coil domain containing 37 144 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) AAAGAATGTGGAGCCTGAGAA 0.607000 18 36 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4099246 4099246 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:4099246G>A ENST00000262948.5 - 7 1125 c.872C>T c.(871-873)cCt>cTt p.P291L MAP2K2_ENST00000394867.4_Missense_Mutation_p.P194L NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 291 Pro-rich.|Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GATGCTGTGAGGCTCTCCTTC 0.711000 5 7 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34195737 34195737 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:34195737C>T ENST00000311880.2 - 1 158 c.10G>A c.(10-12)Gaa>Aaa p.E4K C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.E4K NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 4 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GTTGATTTTTCATAGGCCATC 0.527000 13 55 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11446665 11446665 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:11446665G>A ENST00000423059.3 - 21 4185 c.3934C>T c.(3934-3936)Cga>Tga p.R1312* AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1312 TSP type-1 13. 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) GTCACTGTTCGTCTTCGGATC 0.453000 HNSCC(18;0.044) 8 27 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110644384 110644384 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:110644384T>C ENST00000338081.3 - 3 953 c.782A>G c.(781-783)aAg>aGg p.K261R DCX_ENST00000356220.3_Missense_Mutation_p.K180R|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.K180R|DCX_ENST00000371993.2_Missense_Mutation_p.K180R|DCX_ENST00000356915.2_Missense_Mutation_p.K180R NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 261 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GGTAACCAGCTTGGGGCGCAC 0.532000 46 35 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032973 82032973 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:82032973G>A ENST00000328945.5 - 3 1052 c.925C>T c.(925-927)Ccc>Tcc p.P309S NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 309 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GTGAGGAAGGGCTGGAAGTTG 0.448000 38 88 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31438984 31438984 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:31438984G>A ENST00000225823.2 - 2 1682 c.810C>T c.(808-810)atC>atT p.I270I ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Silent_p.I219I NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 219 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGTCCAGCATGATCTCCAGCC 0.562000 29 77 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51712650 51712650 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:51712650G>A ENST00000371117.3 - 50 8305 c.8030C>T c.(8029-8031)cCa>cTa p.P2677L PKHD1_ENST00000340994.4_Missense_Mutation_p.P2677L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2677 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGGAAGAAATGGAAAAGACAG 0.483000 34 106 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166097 71166097 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:71166097C>T ENST00000357585.2 + 2 1008 c.639C>T c.(637-639)ttC>ttT p.F213F RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.F213F NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 213 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TCTACACTTTCATTCTGGGGT 0.527000 28 89 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138030126 138030126 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:138030126C>T ENST00000409968.1 + 11 2468 c.2290C>T c.(2290-2292)Cga>Tga p.R764* THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R764*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R733* thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AAAACAGTCTCGATACAGAAT 0.398000 11 26 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103347521 103347521 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:103347521G>A ENST00000258436.5 - 3 303 c.260C>T c.(259-261)tCc>tTc p.S87F NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 87 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 AATGCCATAGGAGGAGCCTGT 0.338000 27 59 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837609 79837609 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:79837609C>T ENST00000282226.4 + 6 944 c.789C>T c.(787-789)aaC>aaT p.N263N FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 263 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) AACCACAAAACCATGAATTTA 0.318000 9 34 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155764442 155764442 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:155764442C>T ENST00000159060.2 - 5 553 c.451G>A c.(451-453)Gag>Aag p.E151K NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 151 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AGGTAGCTCTCGTTAGGGGTG 0.562000 15 16 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126181039 126181039 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:126181039G>A ENST00000389709.3 - 6 1519 c.1466C>T c.(1465-1467)cCg>cTg p.P489L ZXDC_ENST00000336332.5_Missense_Mutation_p.P489L NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 489 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) AAGAGAACTCGGAGCTTCTAG 0.448000 30 110 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770528 112770528 + Missense_Mutation SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:112770528G>T ENST00000390666.3 - 1 200 c.9C>A c.(7-9)gaC>gaA p.D3E MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 3 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.D3D(1) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GGACAGCAGCGTCATCCATGG 0.547000 16 34 1.37285e-15 1.39326e-15 1 1 0 TTN 7273 broad.mit.edu 37 2 179637892 179637892 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179637892C>T ENST00000589042.1 - 33 8023 c.7799G>A c.(7798-7800)gGa>gAa p.G2600E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2554E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2600E|TTN_ENST00000342992.6_Missense_Mutation_p.G2600E|TTN_ENST00000359218.5_Missense_Mutation_p.G2554E|TTN_ENST00000591111.1_Missense_Mutation_p.G2600E|TTN_ENST00000342175.6_Missense_Mutation_p.G2554E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2334 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) TGTGTATTTTCCTTCATCATC 0.313000 22 42 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460343 12460343 + Missense_Mutation SNP G G C rs140805551 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12460343G>C ENST00000358136.3 + 61 11870 c.11740G>C c.(11740-11742)Gca>Cca p.A3914P VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.A3889P NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3913 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) GCAAGTCAACGCAGTGAAGTT 0.537000 20 41 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23079893 23079893 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:23079893G>A ENST00000219689.7 - 16 3532 c.3533C>T c.(3532-3534)tCc>tTc p.S1178F USP31_ENST00000567975.1_Missense_Mutation_p.S471F NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1178 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CACCCGAGGGGAATTGGGTTT 0.652000 22 50 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120418 47120418 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:47120418C>T ENST00000298283.3 - 1 610 c.522G>A c.(520-522)acG>acA p.T174T NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 174 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CATTAAACTTCGTGAAGCCCC 0.507000 34 91 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304766 10304766 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:10304766C>T ENST00000403437.2 - 24 3028 c.2934G>A c.(2932-2934)gtG>gtA p.V978V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 978 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TAAGATTTTTCACCTACAAAG 0.413000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 70 205 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155102325 155102325 + Splice_Site SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:155102325G>A ENST00000392825.3 + 7 1254 c.686_splice c.e7-1 p.R229_splice GALNT13_ENST00000409237.1_Splice_Site_p.R229_splice NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 229 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TTCTCTGCAGGAAAACGGTTG 0.318000 17 87 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77666905 77666905 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:77666905G>A ENST00000461745.1 + 22 4435 c.3535G>A c.(3535-3537)Gat>Aat p.D1179N ROBO2_ENST00000332191.8_Missense_Mutation_p.D1179N|ROBO2_ENST00000487694.3_Missense_Mutation_p.D1195N|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1179 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTATCAGTTTGATATAGCAAA 0.418000 29 60 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30966427 30966427 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:30966427G>A ENST00000295055.8 - 13 1443 c.1267C>T c.(1267-1269)Cca>Tca p.P423S CAPN13_ENST00000534090.2_Missense_Mutation_p.P423S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 423 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AACACGGGTGGAAATTTCTCC 0.473000 15 87 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51367609 51367609 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:51367609C>T ENST00000266037.9 + 33 3466 c.3443C>T c.(3442-3444)tCa>tTa p.S1148L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1148 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGCATGGTGTCAGAAGGGAAA 0.532000 4 8 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170043 58170043 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:58170043G>A ENST00000309403.2 - 1 839 c.840C>T c.(838-840)atC>atT p.I280I NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 280 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) TCAGCATGGGGATGACCATTG 0.443000 13 84 0 0 1 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091687 11091687 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:11091687C>T ENST00000537503.1 - 1 175 c.120G>A c.(118-120)aaG>aaA p.K40K PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 40 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 CCGAAGAGATCTTTCTTCCCT 0.393000 23 54 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439439 150439439 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150439439G>A ENST00000358647.3 + 3 579 c.212G>A c.(211-213)gGa>gAa p.G71E GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGAAAACAGGAACATGGAAC 0.567000 52 63 0 0 1 0 0 P2RX2 22953 broad.mit.edu 37 12 133196278 133196278 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:133196278T>A ENST00000389110.3 + 3 360 c.323T>A c.(322-324)tTc>tAc p.F108Y P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.F108Y|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.F108Y NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 108 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GGCAGCGTGTTCAGCATCATC 0.741000 5 15 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 31144244 31144244 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:31144244G>A ENST00000543491.1 + 3 3541 c.3541G>A c.(3541-3543)Gat>Aat p.D1181N O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding p.D1126Y(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CATGCCTGTTGATGAACGAGG 0.537000 23 135 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924612 105924612 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:105924612G>A ENST00000393359.2 - 2 573 c.147C>T c.(145-147)ttC>ttT p.F49F TGFBRAP1_ENST00000258449.1_Silent_p.F49F Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 49 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CCTCCAACAGGAAGTGGTAGA 0.607000 8 34 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242038948 242038948 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:242038948A>G ENST00000391980.2 - 2 441 c.383T>C c.(382-384)aTt>aCt p.I128T MTERFD2_ENST00000407095.3_Missense_Mutation_p.I128T|MTERFD2_ENST00000495694.1_Missense_Mutation_p.I128T|MTERFD2_ENST00000406593.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 128 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) AAATTCTGAAATGATGTCCAG 0.448000 64 118 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40315719 40315719 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:40315719G>A ENST00000264661.3 - 13 2714 c.2382C>T c.(2380-2382)tcC>tcT p.S794S KCNH4_ENST00000607371.1_Silent_p.S794S NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 794 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGCCGTGAGGGGAGGCACTGT 0.657000 3 8 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201356167 201356167 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:201356167G>A ENST00000391967.2 - 3 623 c.322C>T c.(322-324)Ccc>Tcc p.P108S LAD1_ENST00000367313.3_Missense_Mutation_p.P122S NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 108 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TCCTGGATGGGGGCCTGTGCA 0.627000 15 41 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39433070 39433070 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:39433070G>A ENST00000273158.4 + 4 792 c.415G>A c.(415-417)Gtc>Atc p.V139I NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 139 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGTTGCAGGGGTCTGTATGTC 0.557000 67 199 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 6 44 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 71 90 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20906359 20906359 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:20906359G>A ENST00000261497.4 - 13 1766 c.1563C>T c.(1561-1563)ttC>ttT p.F521F USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.F509F NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 521 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 CGTATTCCAGGAACTGTTTGT 0.532000 93 193 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55118723 55118723 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:55118723G>A ENST00000414150.2 + 3 402 c.124G>A c.(124-126)Gct>Act p.A42T MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.A42T|MROH7_ENST00000339553.5_Missense_Mutation_p.A42T|MROH7_ENST00000421030.2_Missense_Mutation_p.A42T|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron maestro heat-like repeat family member 7 CCCAGACATGGCTCAGGTGCC 0.572000 37 81 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57876665 57876665 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:57876665G>A ENST00000311585.7 + 2 623 c.253G>A c.(253-255)Gcc>Acc p.A85T EDN3_ENST00000395654.3_Missense_Mutation_p.A85T|EDN3_ENST00000371028.2_Missense_Mutation_p.A85T|EDN3_ENST00000337938.2_Missense_Mutation_p.A85T|EDN3_ENST00000371025.3_Missense_Mutation_p.A85T NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 85 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) GGAGCAGGCGGCCGAGGGGGC 0.652000 39 83 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432642 73432642 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:73432642C>T ENST00000263666.4 - 10 3189 c.3075G>A c.(3073-3075)atG>atA p.M1025I PDZRN3_ENST00000479530.1_Missense_Mutation_p.M742I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.M747I|PDZRN3_ENST00000462146.2_Missense_Mutation_p.M682I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.M682I NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1025 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCTTCTTCATCATCTTTTTGT 0.458000 102 302 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81610564 81610564 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:81610564T>C ENST00000541158.2 + 11 2484 c.2162T>C c.(2161-2163)gTt>gCt p.V721A TSHR_ENST00000298171.2_Missense_Mutation_p.V721A|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 721 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GATATTCAGGTTCAAAAGGTT 0.488000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 41 101 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304477 115304477 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:115304477C>T ENST00000371906.4 + 3 1134 c.944C>T c.(943-945)cCg>cTg p.P315L NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 315 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 TGCGTTAATCCGTTTCTGTAT 0.463000 77 62 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18246585 18246585 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:18246585C>T ENST00000262811.5 + 17 1819 c.1819C>T c.(1819-1821)Cca>Tca p.P607S NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 607 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TGAGGCCCTTCCAGCAGACGC 0.597000 5 12 0 0 1 0 0 PCBD2 84105 broad.mit.edu 37 5 134294749 134294749 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:134294749G>A ENST00000512783.1 + 3 256 c.236G>A c.(235-237)cGa>cAa p.R79Q PCBD2_ENST00000510013.1_3'UTR|PCBD2_ENST00000254908.6_Missense_Mutation_p.R79Q Q9H0N5 PHS2_HUMAN pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 79 positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process 4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding kidney(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTATGTCCCGAGTTGCCCTA 0.413000 20 60 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371251 48371251 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:48371251G>A ENST00000395702.2 + 2 946 c.719G>A c.(718-720)tGg>tAg p.W240* ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Nonsense_Mutation_p.W133* Q96MN9 ZN488_HUMAN zinc finger protein 488 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CCTACACTGTGGCTGGAGCAT 0.582000 27 44 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11009763 11009763 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:11009763G>A ENST00000377004.4 - 11 1207 c.1208C>T c.(1207-1209)tCc>tTc p.S403F C1orf127_ENST00000377008.4_Missense_Mutation_p.S236F NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 254 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) CCACACCTGGGAGGAAGCAGC 0.647000 3 12 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155226333 155226333 + Silent SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:155226333A>G ENST00000357232.3 - 16 3945 c.3946T>C c.(3946-3948)Tta>Cta p.L1316L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1316 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATCTCGAATAATTCAAATGAA 0.353000 15 15 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3151782 3151782 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:3151782G>A ENST00000400569.3 - 12 2086 c.1753C>T c.(1753-1755)Cga>Tga p.R585* MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R585*|MYOM1_ENST00000356443.4_Nonsense_Mutation_p.R585* P52179 MYOM1_HUMAN myomesin 1 585 Fibronectin type-III 1. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTCACAGCTCGAACTCGGAAG 0.488000 OREG0024839 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 87 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100536 89100536 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:89100536C>T ENST00000393525.3 + 0 1089 cctctgtgctctgcctatgta 0.348000 12 24 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138400102 138400102 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:138400102G>A ENST00000409968.1 + 21 4022 c.3844G>A c.(3844-3846)Gaa>Aaa p.E1282K THSD7B_ENST00000272643.3_Missense_Mutation_p.E1285K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1254K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AACCCAAGGAGAAGGACGGCC 0.512000 30 111 0 0 1 0 0 CCDC90B 60492 broad.mit.edu 37 11 82996914 82996914 + Splice_Site SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:82996914A>G ENST00000529689.1 - 1 535 c.e1+1 CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Intron|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000529073.1_Splice_Site Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) GCCTTGCCTCACCTCTCCGCA 0.632000 3 7 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152097 117152097 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:117152097C>T ENST00000530849.1 + 8 758 c.748C>T c.(748-750)Cgg>Tgg p.R250W RNF214_ENST00000300650.4_Missense_Mutation_p.R405W|RNF214_ENST00000531452.1_Missense_Mutation_p.R405W|RNF214_ENST00000531287.1_Missense_Mutation_p.R250W Q8ND24 RN214_HUMAN ring finger protein 214 405 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GAATGGAGTTCGGATAATGAA 0.423000 11 31 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830235 13830235 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:13830235G>A ENST00000265104.4 - 37 6253 c.6149C>T c.(6148-6150)tCc>tTc p.S2050F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2050 AAA 1 (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) CAGAATAATGGAAATTTGCTG 0.398000 Kartagener syndrome 19 71 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28972152 28972152 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28972152C>T ENST00000359747.4 + 8 883 c.854C>T c.(853-855)tCg>tTg p.S285L RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S285L NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 285 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.S285L(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTTTAAGTTCGGAACTGATA 0.338000 35 88 0 0 1 0 0 KAT8 84148 broad.mit.edu 37 16 31141818 31141818 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:31141818G>A ENST00000543774.2 + 10 1383 c.1048G>A c.(1048-1050)Gag>Aag p.E350K KAT8_ENST00000448516.2_Missense_Mutation_p.E350K|KAT8_ENST00000219797.4_Missense_Mutation_p.E350K Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 350 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding CGGCTCCCCGGAGAAGCCACT 0.607000 4 44 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056776 9056776 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9056776G>A ENST00000397910.4 - 3 30873 c.30670C>T c.(30670-30672)Cca>Tca p.P10224S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10226 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 ATGTCCACTGGAATTTCAGTA 0.458000 13 61 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092819 147092819 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:147092819G>A ENST00000361727.3 + 10 2133 c.1617G>A c.(1615-1617)agG>agA p.R539R NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 539 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGCACAAAGGAAGCCGGGAA 0.433000 HNSCC(39;0.1) 51 258 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26676394 26676394 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:26676394C>T ENST00000288710.2 + 14 1970 c.1896C>T c.(1894-1896)ttC>ttT p.F632F NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) TGGAGGCCTTCGTCATGGGTC 0.612000 20 28 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67075647 67075647 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:67075647C>T ENST00000308127.4 + 9 1066 c.888C>T c.(886-888)atC>atT p.I296I SSH3_ENST00000376757.5_Silent_p.I296I|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 296 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCTGCAGATCCGCCAGGCTC 0.652000 10 56 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237308114 237308114 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:237308114C>T ENST00000409907.3 - 9 1426 c.1152G>A c.(1150-1152)tgG>tgA p.W384* IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.W380*|IQCA1_ENST00000431676.2_Nonsense_Mutation_p.W343* Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 384 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GTGACATTTTCCATTTTTCGT 0.458000 15 70 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144874420 144874420 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:144874420G>A ENST00000356994.2 - 32 4490 c.4484C>T c.(4483-4485)gCc>gTc p.A1495V SCRIB_ENST00000377533.3_Missense_Mutation_p.A1414V|SCRIB_ENST00000320476.3_Missense_Mutation_p.A1495V NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1495 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACGCTTCTCGGCCTCCAGGGC 0.731000 4 11 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2005561 2005561 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:2005561C>T ENST00000262113.4 + 4 500 c.359C>T c.(358-360)tCc>tTc p.S120F MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 120 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTGGCACGCTCCCAGGCCCGC 0.617000 13 24 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720533 140720533 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140720533C>T ENST00000394576.2 + 1 1995 c.1995C>T c.(1993-1995)gcC>gcT p.A665A 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) TGGCCGTGGCCGACAGGATCC 0.682000 36 92 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892264 17892264 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:17892264C>T ENST00000594202.1 + 22 2023 c.1744C>T c.(1744-1746)Cgt>Tgt p.R582C FCHO1_ENST00000597512.1_Missense_Mutation_p.R589C|FCHO1_ENST00000595033.1_Missense_Mutation_p.R532C|FCHO1_ENST00000596951.1_Missense_Mutation_p.R582C|FCHO1_ENST00000252771.7_Missense_Mutation_p.R582C|FCHO1_ENST00000389133.4_Missense_Mutation_p.R582C|FCHO1_ENST00000539407.1_Missense_Mutation_p.R582C|FCHO1_ENST00000600676.1_Missense_Mutation_p.R582C|FCHO1_ENST00000596536.1_Missense_Mutation_p.R582C NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 582 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTTCCAGTCTCGTTCCCTGAG 0.637000 19 50 0 0 1 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107013088 107013088 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:107013088G>A ENST00000390625.2 - 0 286 TGCTTCTAATGAAACCTACCC 0.507000 42 92 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73718592 73718592 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:73718592C>T ENST00000264448.6 + 10 9614 c.9503C>T c.(9502-9504)tCc>tTc p.S3168F ALMS1_ENST00000409009.1_Missense_Mutation_p.S3126F NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3168 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAAGGACATTCCAATCCAGAG 0.403000 27 49 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411967 126411967 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:126411967C>T ENST00000394329.3 + 17 14003 c.13990C>T c.(13990-13992)Ccc>Tcc p.P4664S FAT4_ENST00000335110.5_Missense_Mutation_p.P2905S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4664 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGGCAATCCCCCATGCCCTT 0.512000 27 73 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1282618 1282618 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:1282618C>T ENST00000310581.5 - 3 1752 c.1695G>A c.(1693-1695)gaG>gaA p.E565E TERT_ENST00000508104.2_Silent_p.E565E|TERT_ENST00000334602.6_Silent_p.E565E|TERT_ENST00000296820.5_Silent_p.E565E NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 565 anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAAACGTGGTCTCCGTGACAT 0.522000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 25 82 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542786 28542786 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:28542786C>T ENST00000452236.2 - 3 2313 c.1696G>A c.(1696-1698)Gaa>Aaa p.E566K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 566 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATGTTTTCTTCATACTGGGCT 0.403000 46 90 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52960200 52960200 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:52960200G>A ENST00000258613.4 - 4 1321 c.1143C>T c.(1141-1143)tcC>tcT p.S381S THSD1_ENST00000544466.1_Silent_p.S2S|THSD1_ENST00000349258.4_Intron NM_018676.3 NP_061146.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 381 TSP type-1. extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) AGGCCTCCAAGGACATTCCAG 0.557000 12 40 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270413 113270413 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:113270413G>A ENST00000303941.3 + 8 1816 c.1722G>A c.(1720-1722)ctG>ctA p.L574L NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 574 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCAAATACCTGATCTGCAAGA 0.627000 3 5 0 0 1 0 0 MRPS35 60488 broad.mit.edu 37 12 27890496 27890496 + Nonsense_Mutation SNP C C G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:27890496C>G ENST00000081029.3 + 7 728 c.657C>G c.(655-657)taC>taG p.Y219* MRPS35_ENST00000538315.1_Missense_Mutation_p.R183G NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 219 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) GGCAGAATTACGATTATGCAG 0.323000 33 77 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083434 44083434 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:44083434G>A ENST00000262726.7 - 11 1312 c.1059C>T c.(1057-1059)atC>atT p.I353I EFCAB6_ENST00000396231.2_Silent_p.I201I|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCTTCCAATTGATTTTAGTGG 0.318000 29 39 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2946353 2946353 + Silent SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:2946353T>C ENST00000396946.4 - 25 3787 c.3384A>G c.(3382-3384)gtA>gtG p.V1128V NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1128 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCAGCTCCTCTACGCTGCCCC 0.662000 Mis DLBCL 23 64 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826335 143826335 + Missense_Mutation SNP A A T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:143826335A>T ENST00000408899.2 + 1 185 c.130A>T c.(130-132)Atc>Ttc p.I44F NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GAATGGGGTCATCTTTGGGAT 0.498000 74 274 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117898627 117898627 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:117898627G>A ENST00000368498.2 - 3 533 c.458C>T c.(457-459)cCc>cTc p.P153L GOPC_ENST00000052569.6_Intron|GOPC_ENST00000535237.1_Intron NM_020399.3 NP_065132.1 golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) CTCCACAGAGGGGCCAGACTT 0.308000 O ROS1 glioblastoma 15 14 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427481 119427481 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:119427481C>T ENST00000369429.3 - 8 1692 c.1683G>A c.(1681-1683)ggG>ggA p.G561G TBX15_ENST00000207157.3_Silent_p.G455G Q96SF7 TBX15_HUMAN T-box 15 561 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TGTGCTCCATCCCTGACGGCA 0.547000 34 60 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103347260 103347260 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:103347260C>T ENST00000358392.2 - 65 5386 c.5069G>A c.(5068-5070)gGa>gAa p.G1690E COL11A1_ENST00000370096.3_Missense_Mutation_p.G1678E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1562E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1639E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1678 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACCAGTTTTCCCCTCTTAAA 0.358000 16 46 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10130575 10130575 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:10130575C>T ENST00000287647.3 + 36 3717 c.3624C>T c.(3622-3624)gtC>gtT p.V1208V FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Silent_p.V1208V|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Silent_p.V1208V|FANCD2_ENST00000383806.1_Silent_p.V1208V NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1208 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GTGTTGGTGTCCCAGAACTGA 0.443000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 47 123 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119244171 119244171 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:119244171G>A ENST00000260187.2 - 2 314 c.20C>T c.(19-21)aCc>aTc p.T7I USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 7 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GCGCTTCAGGGTGGAGGAGAG 0.602000 4 19 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227251 25227251 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:25227251G>A ENST00000551631.2 + 0 554 SNHG14_ENST00000551361.1_RNA NR_001293.1 TCGATTTCAAGATTTTCTGCA 0.338000 36 115 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167160770 167160770 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:167160770C>T ENST00000303354.6 - 6 1009 c.669G>A c.(667-669)ttG>ttA p.L223L SCN9A_ENST00000409672.1_Silent_p.L222L|SCN9A_ENST00000409435.1_Silent_p.L222L|SCN9A_ENST00000375387.4_Intron Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 222 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAATAGTTTTCAAAGCTCTCA 0.348000 19 35 0 0 1 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028558 142028558 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142028558G>A ENST00000390353.2 + 0 349 GCTCAGGCTGGAGTCGGCTGC 0.537000 77 287 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651420 75651420 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:75651420C>T ENST00000565683.1 - 18 2183 c.2172G>A c.(2170-2172)ttG>ttA p.L724L MAN2C1_ENST00000569482.1_Silent_p.L707L|MAN2C1_ENST00000267978.5_Silent_p.L707L|MAN2C1_ENST00000563622.1_Silent_p.L608L NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 707 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CCACCAGGACCAAGGACGTCA 0.587000 16 53 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87656025 87656025 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:87656025C>T ENST00000320005.5 - 10 1179 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 378 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCAATTCCTTCATAGTTTGAA 0.358000 42 126 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49597756 49597756 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:49597756C>T ENST00000527477.1 + 0 360 CCTGAATTTTCCCCACCATGC 0.443000 3 13 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34657318 34657318 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:34657318G>A ENST00000314891.6 - 3 546 c.369C>T c.(367-369)gtC>gtT p.V123V LPCAT4_ENST00000562431.1_5'UTR NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 123 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CAGCAACAAGGACAGGGGCTT 0.597000 21 36 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208535 58208535 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:58208535G>A ENST00000377918.3 + 1 1881 c.1855G>A c.(1855-1857)Gag>Aag p.E619K NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 619 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGACTTCGGCGAGAGCGGGCG 0.662000 16 62 0 0 1 0 0 URM1 81605 broad.mit.edu 37 9 131151609 131151609 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:131151609C>T ENST00000452446.1 + 4 320 c.258C>T c.(256-258)atC>atT p.I86I URM1_ENST00000372853.4_Intron|URM1_ENST00000372850.1_3'UTR|URM1_ENST00000483206.1_3'UTR NM_001135947.2 NP_001129419.1 Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 0 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 TGGGGGACATCCCTCCCCCAG 0.597000 24 47 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745002 135745002 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:135745002C>T ENST00000375845.3 - 7 1470 c.1440G>A c.(1438-1440)agG>agA p.R480R MAP3K19_ENST00000358371.4_Silent_p.R367R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.R497R NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GAGGCACCATCCTACTCATTT 0.443000 23 91 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620451 56620451 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:56620451A>G ENST00000321691.3 - 1 1278 c.1097T>C c.(1096-1098)gTt>gCt p.V366A RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 366 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCTGGAGTAACAAACATGGA 0.502000 16 61 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828154 43828154 + Silent SNP T T C rs140150445 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:43828154T>C ENST00000377564.3 + 9 1803 c.1410T>C c.(1408-1410)gaT>gaC p.D470D NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 470 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGTGGTGGATGATGACACAG 0.488000 3 21 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520640 33520640 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:33520640C>T ENST00000297307.5 - 1 772 c.687G>A c.(685-687)gtG>gtA p.V229V NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 229 integral to membrane CCAGCAGCCCCACCAAGCCAG 0.632000 34 99 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739007 91739007 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:91739007C>T ENST00000389857.6 - 30 6135 c.6049G>A c.(6049-6051)Gat>Aat p.D2017N CCDC88C_ENST00000331194.7_Missense_Mutation_p.D541N NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 2017 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTCTGCGGATCCCCGCCGGGC 0.647000 22 102 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436024 56436024 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:56436024C>T ENST00000327381.5 + 3 1291 c.1191C>T c.(1189-1191)ttC>ttT p.F397F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 397 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CCTCGGTTTTCCAGCTGTACT 0.512000 67 179 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046973 9046973 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9046973G>A ENST00000397910.4 - 5 34861 c.34658C>T c.(34657-34659)tCt>tTt p.S11553F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11555 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 GTCTGTCCCAGAACTAGGGAC 0.517000 10 51 0 0 1 0 0 VWA1 64856 broad.mit.edu 37 1 1372863 1372863 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:1372863C>T ENST00000476993.1 + 2 708 c.631_splice c.e2+1 p.L210_splice VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_5'UTR NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 210 VWFA. basement membrane NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCTCCATTCTCGGTATGCGGG 0.617000 28 45 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211309 38211309 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:38211309G>A ENST00000379705.3 - 11 3522 c.2665C>T c.(2665-2667)Cga>Tga p.R889* TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R894*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R805*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R716*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R748*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R716*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R740*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R748*|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 889 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCTAATCCTCGAGATTCCAGT 0.463000 15 58 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907895 12907895 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12907895T>C ENST00000317869.6 - 2 473 c.248A>G c.(247-249)aAc>aGc p.N83S NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TGCAGCCAGGTTAATATCTAC 0.488000 58 198 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814281 123814281 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:123814281C>T ENST00000321252.2 - 1 299 c.265G>A c.(265-267)Gat>Aat p.D89N NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ATGGTGTGATCCCCCGTGAGG 0.502000 10 65 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739650 129739650 + Silent SNP G G A rs2229652 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:129739650G>A ENST00000446488.3 - 23 3373 c.3270C>T c.(3268-3270)atC>atT p.I1090I NFRKB_ENST00000304521.5_Silent_p.I1090I|NFRKB_ENST00000524794.1_Silent_p.I1115I|NFRKB_ENST00000524746.1_Silent_p.I1090I NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1090 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GTCCCTGCACGATGCGGATCG 0.592000 24 88 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002312 58002312 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:58002312C>T ENST00000548198.1 + 4 2264 c.760C>T c.(760-762)Cca>Tca p.P254S DTX3_ENST00000548804.1_Missense_Mutation_p.P254S|DTX3_ENST00000551632.1_Missense_Mutation_p.P257S|DTX3_ENST00000337737.3_Missense_Mutation_p.P254S Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 254 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) GGCTGAACACCCAAACCCAGG 0.612000 11 55 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990196 39990196 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:39990196C>T ENST00000332312.3 - 4 2205 c.2013G>A c.(2011-2013)ggG>ggA p.G671G NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 671 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) AGCGGCTCAGCCCACTGGCCA 0.652000 7 19 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751770 26751770 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:26751770G>A ENST00000396641.2 + 2 1199 c.607G>A c.(607-609)Gat>Aat p.D203N LRRC3B_ENST00000456208.2_Missense_Mutation_p.D203N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.D203N NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 203 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AAAAACTACCGATTATGCCAT 0.473000 14 30 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102356587 102356587 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:102356587A>G ENST00000422945.2 + 8 832 c.736A>G c.(736-738)Aca>Gca p.T246A PPP2R5C_ENST00000350249.3_Missense_Mutation_p.T215A|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.T215A|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.T215A|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.T270A|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.T215A NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 215 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TATTTATGAAACAGAGCATCA 0.393000 16 64 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116535379 116535379 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:116535379G>A ENST00000410059.1 + 15 1810 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K DPP10_ENST00000409163.1_Missense_Mutation_p.E394K|DPP10_ENST00000310323.8_Missense_Mutation_p.E437K|DPP10_ENST00000393147.2_Missense_Mutation_p.E448K NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 444 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TCTGAGCACTGAATCTTCTCC 0.408000 28 57 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74109782 74109782 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:74109782G>A ENST00000389156.4 - 6 643 c.553C>T c.(553-555)Cta>Tta p.L185L FAM169A_ENST00000380515.3_Silent_p.F127F|FAM169A_ENST00000510496.1_Intron NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 185 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TTCTTTCTTAGAAACATTGTA 0.398000 52 138 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100537693 100537693 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:100537693A>G ENST00000268070.4 - 19 2798 c.2693T>C c.(2692-2694)gTc>gCc p.V898A NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 898 TSP type-1 3. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCGCGTAGCGACGTGTGTGCC 0.687000 4 36 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63491888 63491888 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:63491888C>T ENST00000536984.2 + 6 1496 c.802C>T c.(802-804)Caa>Taa p.Q268* CDH7_ENST00000397968.2_Nonsense_Mutation_p.Q268*|CDH7_ENST00000323011.3_Nonsense_Mutation_p.Q268* Q9ULB5 CADH7_HUMAN cadherin 7, type 2 268 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AGGGTCTTATCAATATAACGT 0.368000 29 83 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758652 121758652 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:121758652C>T ENST00000261367.7 + 6 1789 c.361C>T c.(361-363)Cgc>Tgc p.R121C SNCAIP_ENST00000261368.8_Missense_Mutation_p.R74C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R121C|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R74C|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R121C|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 74 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAGTAAGTTCCGCCCAGTGAA 0.443000 25 65 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147736 100147736 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:100147736C>T ENST00000231461.5 - 5 1205 c.895G>A c.(895-897)Gga>Aga p.G299R NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 299 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) GGCCAGAATCCATACAGGTGA 0.398000 25 77 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119306546 119306546 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:119306546C>T ENST00000478399.1 + 4 2300 c.895C>T c.(895-897)Cat>Tat p.H299Y ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.H299Y|ADPRH_ENST00000357003.3_Missense_Mutation_p.H299Y|ADPRH_ENST00000478927.1_Missense_Mutation_p.H299Y P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 299 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AGCCTTTTTCCATGGTGGAGA 0.537000 37 66 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27127142 27127142 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:27127142A>G ENST00000343028.4 - 12 1694 c.1469T>C c.(1468-1470)gTa>gCa p.V490A RP11-421F16.3_ENST00000500632.1_RNA NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 490 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) CATGCCCCATACTGCCAGGAT 0.393000 22 43 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134871889 134871889 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:134871889G>A ENST00000344400.5 - 13 1862 c.1801C>T c.(1801-1803)Caa>Taa p.Q601* WDR91_ENST00000423565.1_Silent_p.L603L|WDR91_ENST00000354475.4_Silent_p.L638L A4D1P6 WDR91_HUMAN WD repeat domain 91 0 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CGGATACCTTGAGGCCACTCT 0.602000 20 94 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325201 77325201 + Missense_Mutation SNP T T C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:77325201T>C ENST00000282849.5 - 21 3782 c.3364A>G c.(3364-3366)Aac>Gac p.N1122D NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1122 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCTACCATGTTGTACACTGGA 0.498000 48 120 0 0 1 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52390189 52390189 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:52390189G>A ENST00000443374.1 + 0 882 GATATCAATCGAACTGTAGTA 0.383000 11 27 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376876 138376876 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:138376876C>T ENST00000356818.2 + 4 1069 c.520C>T c.(520-522)Ccg>Tcg p.P174S PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P174S|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P174S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P174S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P174S NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 174 nucleolus protein binding TAGATGTAAGCCGGAACCGGC 0.687000 18 25 0 0 1 0 0 OPTC 26254 broad.mit.edu 37 1 203465214 203465214 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:203465214G>A ENST00000367222.2 + 2 197 c.81G>A c.(79-81)agG>agA p.R27R NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 27 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) GGAAGGAGAGGAAGAGGAGAG 0.552000 9 41 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943626 144943626 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:144943626C>T ENST00000525985.1 - 2 3867 c.3796G>A c.(3796-3798)Gtg>Atg p.V1266M P58107 EPIPL_HUMAN epiplakin 1 1266 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCATCCCTCACGGCCTGGGCG 0.687000 20 23 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169104 50169104 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:50169104C>T ENST00000246785.3 + 1 282 c.24C>T c.(22-24)ttC>ttT p.F8F BCL2L12_ENST00000246784.3_Silent_p.F8F|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000377139.3_5'UTR NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 8 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTGGGCTGTTCCCGCCCCTAT 0.542000 25 48 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332854 70332854 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:70332854G>A ENST00000338508.4 - 32 3546 c.3547C>T c.(3547-3549)Ccc>Tcc p.P1183S SHANK2_ENST00000409161.1_Missense_Mutation_p.P586S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P587S|SHANK2_ENST00000423696.2_Missense_Mutation_p.P803S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 803 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTGCTCTCGGGCCCCTGGGCT 0.692000 14 32 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94741724 94741724 + Silent SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:94741724G>T ENST00000304338.3 + 24 2617 c.2463G>T c.(2461-2463)cgG>cgT p.R821R NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 821 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ATTCATTCCGGACTCGTAATG 0.418000 27 209 5.77227e-19 5.88991e-19 1 1 0 DOT1L 84444 broad.mit.edu 37 19 2210768 2210768 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:2210768C>T ENST00000398665.3 + 14 1301 c.1265C>T c.(1264-1266)cCc>cTc p.P422L NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 422 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) ACTGCGAACCCCGAGCGGAAG 0.632000 16 70 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162661100 162661100 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:162661100C>T ENST00000375514.5 + 4 592 c.305C>T c.(304-306)tCt>tTt p.S102F SLC4A10_ENST00000415876.2_Missense_Mutation_p.S91F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S91F|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S91F|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S91F|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S91F NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 91 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 GAGTCACCTTCTTTTGGTAAG 0.348000 7 17 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253191 65253191 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:65253191G>A ENST00000389722.3 - 15 3545 c.3492C>T c.(3490-3492)ctC>ctT p.L1164L SPTB_ENST00000542895.1_Silent_p.L1164L|SPTB_ENST00000389720.3_Silent_p.L1164L|SPTB_ENST00000389721.5_Silent_p.L1164L|SPTB_ENST00000556626.1_Silent_p.L1164L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1164 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGCACTGAGCGAGGGTGTGGC 0.622000 10 43 0 0 1 0 0 SAA1 6288 broad.mit.edu 37 11 18288502 18288502 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:18288502C>T ENST00000405158.2 + 2 252 c.68C>T c.(67-69)tCg>tTg p.S23L SAA1_ENST00000532858.1_Missense_Mutation_p.S23L|SAA1_ENST00000356524.4_Missense_Mutation_p.S23L NM_000331.4 NP_000322.2 P02735 SAA_HUMAN serum amyloid A1 23 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding endometrium(1)|large_intestine(3)|lung(2)|stomach(3) 9 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGCTTCTTTTCGTTCCTTGGC 0.498000 13 48 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34451165 34451165 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:34451165G>A ENST00000374012.3 + 6 780 c.651G>A c.(649-651)gaG>gaA p.E217E PHF20_ENST00000439301.1_Silent_p.E217E|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 217 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) CCAAGAACGAGAAGGAAGACA 0.413000 61 128 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054506 67054506 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:67054506C>T ENST00000295568.4 + 3 1168 c.1037C>T c.(1036-1038)tCc>tTc p.S346F KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.S372F NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 372 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AGATGGCTATCCAAACCATCC 0.458000 53 110 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426437 10426437 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:10426437C>T ENST00000245503.5 - 39 6027 c.5643G>A c.(5641-5643)gtG>gtA p.V1881V MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1881V NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1881 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 TATAAGATTTCACTTTTGCCT 0.323000 27 56 0 0 1 0 0 EPT1 85465 broad.mit.edu 37 2 26609386 26609386 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:26609386C>T ENST00000260585.7 + 9 1196 c.1077C>T c.(1075-1077)atC>atT p.I359I NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 359 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding TGGCCCACATCCATTATGGAG 0.428000 14 38 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113518989 113518989 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:113518989G>A ENST00000297405.5 - 29 5070 c.4826C>T c.(4825-4827)cCg>cTg p.P1609L CSMD3_ENST00000455883.2_Missense_Mutation_p.P1505L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1569L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1609L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1609 CUB 9. integral to membrane|plasma membrane p.P1609L(1)|p.P1569L(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTGCTATGCGGATATGGATG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 77 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480417 73480417 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:73480417G>A ENST00000523207.1 + 2 1036 c.448G>A c.(448-450)Gaa>Aaa p.E150K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 150 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACAAATGAACGAAGAACTGAG 0.453000 45 161 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13900333 13900333 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:13900333C>T ENST00000265104.4 - 15 2345 c.2241G>A c.(2239-2241)agG>agA p.R747R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 747 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) TACTGAAGTTCCTTTTGTATC 0.378000 Kartagener syndrome 43 67 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67077281 67077281 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:67077281G>A ENST00000284425.2 - 37 4796 c.4622C>T c.(4621-4623)tCc>tTc p.S1541F ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1541 transport integral to membrane ATP binding|ATPase activity p.S1541Y(1) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TAACAAAGAGGAATACCTGAA 0.373000 39 96 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101735415 101735415 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:101735415C>T ENST00000506729.1 - 10 1829 c.1658G>A c.(1657-1659)gGa>gAa p.G553E SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G300E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G553E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G300E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G491E Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 553 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTTATTAATCCTTCTTTAAT 0.323000 30 62 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100417783 100417783 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:100417783G>A ENST00000358173.3 - 5 1412 c.944C>T c.(943-945)cCc>cTc p.P315L EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P315L NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 315 Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCACCCCGGGGGTCTGTGCG 0.642000 26 66 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169336585 169336585 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:169336585G>A ENST00000511577.1 - 22 3200 c.2953C>T c.(2953-2955)Ccc>Tcc p.P985S DDX60L_ENST00000260184.7_Missense_Mutation_p.P985S|DDX60L_ENST00000505890.1_Missense_Mutation_p.P985S Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 985 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GCAGCACAGGGATGAAAATGA 0.348000 10 22 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205028255 205028255 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:205028255C>T ENST00000331830.4 + 6 815 c.531C>T c.(529-531)atC>atT p.I177I NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 177 Ig-like C2-type 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAACTTCATCCCGACGGACG 0.587000 19 50 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212553313 212553313 + Missense_Mutation SNP G G A rs138060998 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:212553313G>A ENST00000261455.4 - 5 699 c.562C>T c.(562-564)Cgc>Tgc p.R188C TMEM206_ENST00000535273.1_Missense_Mutation_p.R249C NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 188 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TTGTTCAGGCGGAACTGGAGG 0.522000 57 113 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57861986 57861986 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:57861986G>A ENST00000228682.2 + 10 1378 c.1287G>A c.(1285-1287)ctG>ctA p.L429L GLI1_ENST00000546141.1_Silent_p.L388L|GLI1_ENST00000543426.1_Silent_p.L301L NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 429 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AAAGCAGACTGACTGTGCCAG 0.612000 18 21 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972487 92972487 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:92972487C>T ENST00000523629.1 - 12 2252 c.1798G>A c.(1798-1800)Gag>Aag p.E600K RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E563K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E573K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E611K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E573K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E563K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E600K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E563K NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 600 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGGGTTGTCTCTATGGTGGAA 0.567000 5 11 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107746996 107746996 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:107746996G>A ENST00000388781.3 - 7 696 c.613C>T c.(613-615)Ccc>Tcc p.P205S LAMB4_ENST00000205386.4_Missense_Mutation_p.P205S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P205S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P205S NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 205 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TCAAAACTGGGATCCAAAACT 0.269000 8 45 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182423343 182423343 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:182423343C>T ENST00000410087.3 - 5 870 c.770G>A c.(769-771)cGa>cAa p.R257Q CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R239Q|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000339098.5_Missense_Mutation_p.R283Q|CERKL_ENST00000374969.2_Intron NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 283 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity p.R257Q(1)|p.R283Q(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) AGTCAGGATTCGGTCTGTTTC 0.488000 21 48 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21120489 21120489 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:21120489C>T ENST00000377122.4 - 15 1869 c.1473G>A c.(1471-1473)gaG>gaA p.E491E NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 491 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TAATTTCAGTCTCCAGATCTC 0.428000 4 46 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092805 147092805 + Missense_Mutation SNP G G A rs76475298 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:147092805G>A ENST00000361727.3 + 10 2119 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 535 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAATTTATACGAAGTGGCACA 0.438000 HNSCC(39;0.1) 144 175 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141986800 141986800 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:141986800C>T ENST00000389484.3 - 6 1773 c.802G>A c.(802-804)Gga>Aga p.G268R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 268 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) GTTAATCCTCCTGCTTTTGTT 0.294000 TSP Lung(27;0.18) 23 100 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216091 20216091 + Missense_Mutation SNP T T G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:20216091T>G ENST00000331723.1 + 1 505 c.505T>G c.(505-507)Ttc>Gtc p.F169V NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAGCTGCCTTTCTGTGGGCC 0.512000 9 111 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73569287 73569287 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:73569287G>A ENST00000392550.3 + 20 2770 c.2653G>A c.(2653-2655)Gtg>Atg p.V885M LLGL2_ENST00000167462.5_Missense_Mutation_p.V885M|LLGL2_ENST00000577200.1_Missense_Mutation_p.V885M NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 885 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CAAGCCCCAGGTGCGCTACAG 0.652000 34 64 0 0 1 0 0 NAA10 8260 broad.mit.edu 37 X 153197787 153197787 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:153197787G>A ENST00000464845.1 - 5 641 c.323C>T c.(322-324)tCc>tTc p.S108F NAA10_ENST00000370009.1_Missense_Mutation_p.S108F|NAA10_ENST00000370015.4_Missense_Mutation_p.S108F|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000393712.3_Missense_Mutation_p.S108F NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 108 N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 GACATGCAGGGAGACATATTT 0.582000 7 15 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182853892 182853892 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:182853892C>T ENST00000367549.3 + 27 3515 c.3405C>T c.(3403-3405)atC>atT p.I1135I DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1135 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TGAACATGATCCGTCAGATCT 0.483000 45 89 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490229 37490229 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:37490229G>A ENST00000374660.1 + 37 3133 c.3034G>A c.(3034-3036)Gat>Aat p.D1012N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D893N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D893N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1036 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAAGAAATGGATAAAATAAG 0.318000 37 42 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24525909 24525909 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:24525909C>T ENST00000342740.5 + 12 1098 c.944C>T c.(943-945)tCc>tTc p.S315F LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 315 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) ACTGCCATTTCCCCTCGAGGT 0.592000 17 27 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43441314 43441314 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:43441314C>T ENST00000446844.3 - 0 4 PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CTGTGCTGTCCTTCCTCCTTC 0.607000 14 31 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41052951 41052951 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:41052951C>T ENST00000253801.2 + 1 137 c.58C>T c.(58-60)Cag>Tag p.Q20* G6PC_ENST00000585489.1_Nonsense_Mutation_p.Q20*|G6PC_ENST00000592383.1_Nonsense_Mutation_p.Q20* NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 20 Q -> R (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding p.Q20*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ACATTACCTCCAGGTGAATTA 0.502000 42 74 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18258346 18258346 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:18258346C>T ENST00000262811.5 + 26 3306 c.3306C>T c.(3304-3306)tcC>tcT p.S1102S AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 1102 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CACTGTCATCCAGTGAGAGCC 0.652000 4 9 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39832813 39832813 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:39832813G>A ENST00000538976.1 + 5 573 c.391G>A c.(391-393)Gaa>Aaa p.E131K DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.E131K|DAAM2_ENST00000398904.2_Missense_Mutation_p.E131K NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 131 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CCAAGTCGTGGAAGACCTGAA 0.562000 OREG0017416 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228169718 228169718 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:228169718G>A ENST00000396578.3 + 47 4333 c.4171G>A c.(4171-4173)Ggt>Agt p.G1391S AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1391 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGGGCCAAGAGGTAAGCCAGG 0.473000 6 34 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60881720 60881720 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:60881720G>A ENST00000253003.2 + 5 517 c.471G>A c.(469-471)caG>caA p.Q157Q ADRM1_ENST00000462554.1_3'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 157 Gly-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) GTGGCCTGCAGAGCCTGCTGG 0.682000 3 8 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404430 197404430 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:197404430A>G ENST00000367397.1 + 5 2438 c.1580A>G c.(1579-1581)aAc>aGc p.N527S CRB1_ENST00000367400.3_Missense_Mutation_p.N1146S|CRB1_ENST00000367399.2_Missense_Mutation_p.N1034S|CRB1_ENST00000544212.1_Missense_Mutation_p.N627S|CRB1_ENST00000535699.1_Missense_Mutation_p.N1122S|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1146 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGCAACTCCAACCCCTGTTTG 0.428000 22 105 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269135 63269135 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:63269135G>A ENST00000322893.7 - 9 2002 c.1734C>T c.(1732-1734)taC>taT p.Y578Y KCNH5_ENST00000394968.1_Silent_p.Y520Y|KCNH5_ENST00000420622.2_Silent_p.Y578Y NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 578 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTCCAGCATGGTAAATGAGGT 0.512000 10 92 0 0 1 0 0 C4BPB 725 broad.mit.edu 37 1 207273178 207273178 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:207273178C>T ENST00000243611.5 + 6 957 c.663C>T c.(661-663)aaC>aaT p.N221N C4BPB_ENST00000367076.3_Silent_p.N220N|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000391923.1_Silent_p.N221N|C4BPB_ENST00000367078.3_Silent_p.N221N NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 221 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 CCATGGAGAACTTTATGCAAC 0.393000 35 119 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159554574 159554574 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:159554574A>G ENST00000307765.5 + 12 1168 c.917A>G c.(916-918)aAg>aGg p.K306R RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.K273R|RXFP1_ENST00000448688.2_Missense_Mutation_p.K201R|RXFP1_ENST00000460056.2_Missense_Mutation_p.K225R NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 306 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GGAAGTAATAAGATTGAAAAT 0.313000 23 39 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33491062 33491062 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:33491062C>T ENST00000268876.5 + 9 1125 c.1028C>T c.(1027-1029)tCc>tTc p.S343F UNC45B_ENST00000394570.2_Missense_Mutation_p.S343F|UNC45B_ENST00000378449.1_Missense_Mutation_p.S343F|UNC45B_ENST00000433649.1_Missense_Mutation_p.S343F|UNC45B_ENST00000591048.1_Missense_Mutation_p.S343F NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 343 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GATCTGCCATCCTGCCTGCCC 0.582000 50 163 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316185 43316185 + Missense_Mutation SNP G G C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:43316185G>C ENST00000361428.2 - 6 3026 c.2949C>G c.(2947-2949)aaC>aaG p.N983K ZNF318_ENST00000318149.3_Missense_Mutation_p.N983K NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 983 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TATCGAAGATGTTAATTCCCA 0.428000 72 251 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36979536 36979536 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:36979536G>A ENST00000274963.8 + 4 604 c.433G>A c.(433-435)Gat>Aat p.D145N NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 145 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CTTCCCAGAGGATGTGGTCAG 0.582000 32 78 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891960 18891960 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:18891960G>A ENST00000317658.3 + 1 916 c.758G>A c.(757-759)aGa>aAa p.R253K NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 253 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GAAGCCCTGAGAAAAATTCTA 0.423000 24 67 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76826089 76826089 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:76826089C>T ENST00000248598.5 - 2 859 c.827G>A c.(826-828)gGa>gAa p.G276E CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 276 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TCTGAGGTTTCCAAAGCCTGC 0.473000 45 133 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541096 12541096 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:12541096G>A ENST00000301547.5 - 4 2087 c.1890C>T c.(1888-1890)tcC>tcT p.S630S CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 630 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 GTCTATGCAAGGAACTGAGAG 0.403000 28 131 0 0 1 0 0 SSTR3 6753 broad.mit.edu 37 22 37603308 37603308 + Missense_Mutation SNP C C T rs149879896 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:37603308C>T ENST00000328544.3 - 2 1068 c.535G>A c.(535-537)Gtg>Atg p.V179M SSTR3_ENST00000402501.1_Missense_Mutation_p.V179M NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 179 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GAGAAGACCACCACGGGCAGC 0.731000 7 27 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32821443 32821443 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:32821443C>T ENST00000354258.4 - 1 312 c.151G>A c.(151-153)Ggc>Agc p.G51S PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 51 antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CGGTCCCGGCCGGGCCTGGGA 0.746000 6 10 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151337513 151337513 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:151337513C>T ENST00000426705.2 - 11 1415 c.1271G>A c.(1270-1272)cGg>cAg p.R424Q SELENBP1_ENST00000435071.1_Missense_Mutation_p.R318Q|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R382Q|SELENBP1_ENST00000447402.3_Missense_Mutation_p.R320Q NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 382 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) TCCAGCCACCCGTTTTCCCTT 0.577000 4 11 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 397067 397067 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:397067G>A ENST00000331563.2 + 3 642 c.566G>A c.(565-567)gGg>gAg p.G189E NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 189 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGGGCCCGGGGGCCTGGAC 0.711000 7 42 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575513 12575513 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:12575513C>T ENST00000397732.3 - 4 1394 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ZNF709_ENST00000428311.1_Missense_Mutation_p.R408Q|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TTCATGCATTCGAAAGGAACT 0.408000 93 167 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885347 12885347 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12885347G>A ENST00000535591.1 - 4 959 c.764C>T c.(763-765)tCg>tTg p.S255L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 255 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GACCTTTAACGAGGTCTTCAG 0.493000 134 332 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779926 159779926 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:159779926C>T ENST00000321935.6 + 7 1036 c.950C>T c.(949-951)cCt>cTt p.P317L FCRL6_ENST00000339348.5_Missense_Mutation_p.P310L|FCRL6_ENST00000368106.3_Missense_Mutation_p.P310L|FCRL6_ENST00000392235.3_Missense_Mutation_p.P215L Q6DN72 FCRL6_HUMAN Fc receptor-like 6 310 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) TGGCTGGTTCCTTGGCTTCCT 0.512000 77 123 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30938609 30938609 + Missense_Mutation SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:30938609A>G ENST00000298139.5 + 9 1315 c.1066A>G c.(1066-1068)Aaa>Gaa p.K356E NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 356 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TCATTTAGCTAAACATGATGG 0.353000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 69 94 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50122723 50122723 + RNA SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:50122723C>T ENST00000376025.2 - 0 2823 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GAGATGGTTTCTCCATCACAC 0.458000 22 19 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69252815 69252815 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:69252815G>A ENST00000551568.1 - 8 1037 c.977C>T c.(976-978)cCa>cTa p.P326L CPM_ENST00000546373.1_Missense_Mutation_p.P326L|CPM_ENST00000338356.3_Missense_Mutation_p.P326L NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 326 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATTGGGTAATGGATTTCCATT 0.318000 34 89 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19554778 19554778 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:19554778C>T ENST00000328405.2 + 13 2662 c.2396C>T c.(2395-2397)tCa>tTa p.S799L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 799 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TTGCAACTTTCAACTTTGAAT 0.423000 59 104 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144854558 144854558 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:144854558G>A ENST00000369359.4 - 45 7358 c.7320C>T c.(7318-7320)aaC>aaT p.N2440N PDE4DIP_ENST00000313382.9_Silent_p.N2198N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.N2304N|PDE4DIP_ENST00000369356.4_Silent_p.N2304N|PDE4DIP_ENST00000530740.1_Silent_p.N2389N Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2304 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTTCTGCTGGTTGGCGTTCT 0.512000 T PDGFRB MPD 34 333 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155530869 155530869 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:155530869G>A ENST00000404648.3 - 6 818 c.579C>T c.(577-579)taC>taT p.Y193Y FGG_ENST00000407946.1_Silent_p.Y201Y|FGG_ENST00000405164.1_Silent_p.Y201Y|FGG_ENST00000336098.3_Silent_p.Y193Y NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 193 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTTTAATAAAGTAAAGCCCGC 0.408000 44 73 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242587 53242587 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:53242587G>A ENST00000304620.4 - 1 191 c.128C>T c.(127-129)tCc>tTc p.S43F NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 43 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CCCCCCAAAGGAATTAAGGCT 0.672000 10 19 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138849938 138849938 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:138849938C>T ENST00000464848.1 + 9 933 c.853C>T c.(853-855)Cct>Tct p.P285S TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000478836.2_Missense_Mutation_p.P179S|TTC26_ENST00000495038.1_Missense_Mutation_p.P154S|TTC26_ENST00000430935.1_Missense_Mutation_p.P285S|TTC26_ENST00000343187.4_Missense_Mutation_p.P254S A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 285 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TGATGTCATTCCTGAAGCTAG 0.378000 9 36 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160102 132160102 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:132160102G>A ENST00000511190.1 - 6 2616 c.2147C>T c.(2146-2148)cCt>cTt p.P716L USP26_ENST00000406273.1_Missense_Mutation_p.P716L|USP26_ENST00000370832.1_Missense_Mutation_p.P716L NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 716 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATCTTTAGTAGGATTGATAAT 0.348000 34 29 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121004775 121004775 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:121004775C>T ENST00000325954.4 + 13 2494 c.2033C>T c.(2032-2034)tCc>tTc p.S678F RNF10_ENST00000413266.2_Missense_Mutation_p.S683F NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 678 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTCCAGGTTCCCATGCAGGT 0.498000 28 85 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57572190 57572190 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:57572190G>A ENST00000243077.3 + 27 4876 c.4410G>A c.(4408-4410)gaG>gaA p.E1470E NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1470 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCACATGGAGGTGCTTCGGG 0.577000 15 45 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89680035 89680035 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:89680035G>A ENST00000264344.5 - 14 1803 c.1596C>T c.(1594-1596)atC>atT p.I532I FAM13A_ENST00000503556.1_Silent_p.I192I|FAM13A_ENST00000508369.1_Silent_p.I206I|FAM13A_ENST00000395002.2_Silent_p.I206I|FAM13A_ENST00000513837.1_Silent_p.I178I|FAM13A_ENST00000511976.1_Silent_p.I118I NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 532 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GATGCTCCTGGATCTTCATTG 0.517000 21 57 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48595380 48595380 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:48595380G>A ENST00000262384.3 - 2 1410 c.1174C>T c.(1174-1176)Caa>Taa p.Q392* RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 392 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) CTGTCTTCTTGGAATCTTTTA 0.353000 18 57 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196800945 196800945 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:196800945G>A ENST00000320493.5 + 6 897 c.809G>A c.(808-810)cGa>cAa p.R270Q CFHR1_ENST00000367424.3_Missense_Mutation_p.R211Q|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 270 complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GTAATATCCCGAGAAATTATG 0.328000 17 122 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31604561 31604561 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:31604561G>A ENST00000379416.3 - 12 1118 c.1070C>T c.(1069-1071)cCc>cTc p.P357L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 357 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTCGGAGATGGGGCTGGCAGT 0.582000 5 17 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43893104 43893104 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:43893104C>T ENST00000450892.2 - 25 4887 c.4810G>A c.(4810-4812)Gag>Aag p.E1604K STRC_ENST00000541030.1_Missense_Mutation_p.E831K NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1604 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGGAGCTCCTCTGGCCGCAGT 0.557000 28 91 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96242593 96242593 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:96242593G>A ENST00000347108.3 - 15 2215 c.1783C>T c.(1783-1785)Cga>Tga p.R595* DZIP1_ENST00000361396.2_Nonsense_Mutation_p.R576*|DZIP1_ENST00000376829.2_Nonsense_Mutation_p.R595*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.R576* Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 595 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGGAATTCTCGAATTTGATGA 0.368000 31 103 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54707203 54707203 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:54707203G>A ENST00000545554.1 + 18 4871 c.4871G>A c.(4870-4872)gGa>gAa p.G1624E UNC13C_ENST00000260323.11_Missense_Mutation_p.G1624E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1622E Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1624 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G1624E(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) CTGAACATGGGAAAAATAAGT 0.299000 19 49 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41337930 41337930 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:41337930C>T ENST00000551295.2 + 14 1758 c.1641C>T c.(1639-1641)atC>atT p.I547I CNTN1_ENST00000360099.3_Silent_p.I547I|CNTN1_ENST00000348761.2_Silent_p.I536I|CNTN1_ENST00000347616.1_Silent_p.I547I|CNTN1_ENST00000547702.1_Silent_p.I547I|CNTN1_ENST00000547849.1_Silent_p.I547I NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 547 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.I547I(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCTATGTGATCGATTTTAACA 0.408000 14 59 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4737262 4737262 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:4737262C>T ENST00000545990.2 - 5 1330 c.806G>A c.(805-807)cGa>cAa p.R269Q AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 269 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.R269L(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTCCTGCCCTCGAAACCTCTT 0.443000 27 59 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26166101 26166101 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:26166101G>A ENST00000335473.7 + 5 1787 c.1537G>A c.(1537-1539)Gca>Aca p.A513T MYO18B_ENST00000407587.2_Missense_Mutation_p.A513T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A513T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 513 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ATGGTATGAGGCAGAGAAAGT 0.512000 31 58 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91430422 91430422 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:91430422G>A ENST00000328850.3 + 5 632 c.490G>A c.(490-492)Gac>Aac p.D164N FES_ENST00000450438.2_Missense_Mutation_p.D106N|FES_ENST00000414248.2_Missense_Mutation_p.D106N|FES_ENST00000394300.3_Missense_Mutation_p.D106N|FES_ENST00000444422.2_Missense_Mutation_p.D164N|FES_ENST00000394302.1_Missense_Mutation_p.D106N NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 164 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGCAGACAAGGACCGTGACAA 0.607000 23 74 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099306 133099306 + Nonsense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:133099306C>T ENST00000515826.1 + 3 874 c.751C>T c.(751-753)Cag>Tag p.Q251* TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Nonsense_Mutation_p.Q251*|TMEM108_ENST00000321871.6_Nonsense_Mutation_p.Q251* Q6UXF1 TM108_HUMAN transmembrane protein 108 251 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACCACAGCCCCAGACAGTGGC 0.627000 9 33 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496610 20496610 + RNA SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:20496610G>A ENST00000555186.1 + 0 663 NR_038836.1 TCTACTAGTCGAAAGTGGCCT 0.438000 5 59 0 0 1 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665209 6665209 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:6665209C>T ENST00000326176.9 - 5 724 c.343G>A c.(343-345)Ggt>Agt p.G115S TNFSF14_ENST00000599359.1_Missense_Mutation_p.G151S|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G115S NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 151 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CAGCCCACACCGCCCAGCTGC 0.657000 15 45 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99156043 99156043 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:99156043C>T ENST00000074304.5 + 10 1116 c.723C>T c.(721-723)aaC>aaT p.N241N INPP4A_ENST00000409540.3_Silent_p.N241N|INPP4A_ENST00000409016.3_Silent_p.N241N|INPP4A_ENST00000523221.1_Silent_p.N241N|INPP4A_ENST00000545415.1_Silent_p.N241N|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.N241N NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 241 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 CTGATGGTAACCATTTGCGGA 0.577000 14 65 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228482060 228482060 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228482060G>A ENST00000570156.2 + 47 12700 c.12626G>A c.(12625-12627)gGg>gAg p.G4209E OBSCN_ENST00000359599.6_Missense_Mutation_p.G2627E|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3780E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G899E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3780E|OBSCN_ENST00000366707.4_Missense_Mutation_p.G899E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3252 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGGATGCCGGGGAGTACTCG 0.602000 51 105 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99380403 99380403 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:99380403T>A ENST00000370188.3 - 5 1232 c.872A>T c.(871-873)cAg>cTg p.Q291L LPPR5_ENST00000263177.4_Missense_Mutation_p.Q291L NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 291 integral to membrane hydrolase activity CATTGGCATCTGTGCCAGATT 0.358000 60 136 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808469 8808469 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:8808469C>T ENST00000324436.3 - 1 703 c.583G>A c.(583-585)Gtg>Atg p.V195M NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 195 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GTGTCCACCACCAGCCCGCTG 0.662000 13 41 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135631080 135631080 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:135631080G>A ENST00000370634.3 + 3 717 c.547G>A c.(547-549)Gaa>Aaa p.E183K NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CCGTCCTCAGGAATCTGCCGC 0.597000 63 43 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691153 18691153 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:18691153C>T ENST00000433979.1 + 24 3380 c.3264C>T c.(3262-3264)aaC>aaT p.N1088N PIK3C2G_ENST00000538779.1_Silent_p.N1129N|PIK3C2G_ENST00000266497.5_Silent_p.N1088N NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1088 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) GTGGGAAAAACCCACAGCATT 0.403000 26 77 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073507 9073507 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9073507G>A ENST00000397910.4 - 3 14142 c.13939C>T c.(13939-13941)Cca>Tca p.P4647S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4649 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 GCAGGAGTTGGTATGAATGTT 0.443000 26 71 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554221 150554221 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150554221G>A ENST00000493429.1 + 4 1247 c.663G>A c.(661-663)gtG>gtA p.V221V AOC1_ENST00000360937.4_Silent_p.V221V|AOC1_ENST00000416793.2_Silent_p.V221V|AOC1_ENST00000467291.1_Silent_p.V221V amine oxidase, copper containing 1 AGCTCCTCGTGGATCATGGGA 0.607000 19 90 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266729 107266729 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:107266729C>T ENST00000334726.2 + 1 275 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 62 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 TGTACCTCTTCCTCAGCAATC 0.478000 63 86 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487730 248487730 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:248487730G>A ENST00000317965.2 - 1 169 c.141C>T c.(139-141)ctC>ctT p.L47L NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTAGATGAGGAGAACCATGA 0.527000 146 433 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212553314 212553314 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:212553314G>A ENST00000261455.4 - 5 698 c.561C>T c.(559-561)ttC>ttT p.F187F TMEM206_ENST00000535273.1_Silent_p.F248F NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 187 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TGTTCAGGCGGAACTGGAGGA 0.522000 57 112 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36875201 36875201 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:36875201C>T ENST00000301807.6 - 21 5988 c.4091G>A c.(4090-4092)aGg>aAg p.R1364K TRANK1_ENST00000429976.2_Missense_Mutation_p.R1914K|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1364K NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1914 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTACCTTCCCTGTTCAGCAG 0.542000 25 68 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111693857 111693857 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:111693857C>T ENST00000435970.1 - 15 6283 c.5467G>A c.(5467-5469)Gag>Aag p.E1823K REV3L_ENST00000368802.3_Missense_Mutation_p.E1901K|REV3L_ENST00000358835.3_Missense_Mutation_p.E1901K|REV3L_ENST00000368805.1_Missense_Mutation_p.E1901K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1901 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAAATAGTCTCAGACAGGTCA 0.423000 DNA polymerases (catalytic subunits) 56 83 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860573 43860573 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:43860573G>A ENST00000389420.3 - 9 1248 c.1249C>T c.(1249-1251)Cct>Tct p.P417S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P417S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 417 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTACATCTAGGATTATCATCA 0.318000 24 64 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61187119 61187119 + Missense_Mutation SNP C C A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:61187119C>A ENST00000216513.4 - 2 967 c.908G>T c.(907-909)gGa>gTa p.G303V NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 303 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) ATCCTCATGTCCCTTGCTGGA 0.468000 41 89 1.15183e-24 1.17691e-24 1 1 0 EPHB2 2048 broad.mit.edu 37 1 23219523 23219523 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:23219523C>T ENST00000400191.3 + 7 1593 c.1575C>T c.(1573-1575)ttC>ttT p.F525F EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.F525F|EPHB2_ENST00000374630.3_Silent_p.F525F|EPHB2_ENST00000374627.1_Silent_p.F520F NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 525 Fibronectin type-III 2. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AGATGTACTTCCAGACCATGA 0.587000 24 86 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3783123 3783123 + Splice_Site SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:3783123C>T ENST00000310132.6 - 7 1075 c.e7+1 MATK_ENST00000395040.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395045.2_Splice_Site NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTCCCCTACCCCTGGCCAG 0.657000 10 56 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216752 3216752 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:3216752G>A ENST00000520002.1 - 22 3784 c.3229C>T c.(3229-3231)Cgt>Tgt p.R1077C CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1077C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1077 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTCTAAACGATATCCCAGG 0.557000 30 75 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171553 150171553 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150171553G>A ENST00000307271.3 + 4 1710 c.1136G>A c.(1135-1137)aGa>aAa p.R379K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 379 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) ACGTTCTTAAGAAACAGCAAT 0.398000 53 248 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30941224 30941224 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:30941224C>T ENST00000298139.5 + 10 1528 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 427 2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GCATTTATCTCCCAATGATAA 0.274000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 14 79 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51043424 51043424 + Missense_Mutation SNP A A T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:51043424A>T ENST00000399908.2 + 3 1615 c.899A>T c.(898-900)gAc>gTc p.D300V MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.D186V|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.D271V|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.D565V|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.D300V NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 566 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 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) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACCTCGCCGGACAGCCCTGAC 0.662000 9 45 0 0 1 0 0 CECR6 27439 broad.mit.edu 37 22 17601208 17601208 + Silent SNP G G C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:17601208G>C ENST00000331437.3 - 1 935 c.810C>G c.(808-810)gcC>gcG p.A270A CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 270 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) GGGGCGGCGCGGCGTGGTGGT 0.796000 5 8 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215884366 215884366 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:215884366G>A ENST00000272895.7 - 12 1661 c.1442C>T c.(1441-1443)aCc>aTc p.T481I ABCA12_ENST00000389661.4_Missense_Mutation_p.T163I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 481 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGCTATTTCGGTGCCCAGCTC 0.428000 10 45 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19646731 19646731 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:19646731C>T ENST00000457500.2 - 2 537 c.208G>A c.(208-210)Gag>Aag p.E70K ALDH3A1_ENST00000494157.2_5'UTR|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E70K|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E70K|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E70K NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 70 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TACTCGATCTCCTCTAGGACG 0.612000 29 111 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70359509 70359509 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:70359509C>T ENST00000288071.6 + 7 770 c.525C>T c.(523-525)gcC>gcT p.A175A DDX19B_ENST00000451014.3_Silent_p.A149A|DDX19B_ENST00000563206.1_Silent_p.A180A|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Silent_p.A144A|DDX19B_ENST00000563392.1_Silent_p.A66A|RP11-529K1.3_ENST00000567706.1_Silent_p.A175A|DDX19B_ENST00000393657.2_Silent_p.A66A|DDX19B_ENST00000568625.1_Silent_p.A66A NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 175 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) ATGAGCTCGCCCTCCAAACAG 0.418000 65 146 0 0 1 0 0 MRPL3 11222 broad.mit.edu 37 3 131190074 131190074 + Nonsense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:131190074G>A ENST00000264995.3 - 7 826 c.679C>T c.(679-681)Cag>Tag p.Q227* MRPL3_ENST00000425847.2_Nonsense_Mutation_p.Q254* NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 227 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 GTAGCAGGCTGGCCTTTAAAT 0.388000 39 110 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535239 51535239 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:51535239G>A ENST00000525263.1 - 3 469 c.350C>T c.(349-351)cCc>cTc p.P117L CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250351.4_Missense_Mutation_p.P117L|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000319590.4_Missense_Mutation_p.P117L Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 117 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) TACGCGGACGGGCAGGCGCAG 0.677000 12 36 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28956913 28956913 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28956913C>T ENST00000359747.4 + 1 68 c.39C>T c.(37-39)atC>atT p.I13I RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.I13I NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 13 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCCTTTTGATCATTCTAATGG 0.423000 20 38 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104868115 104868115 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:104868115G>A ENST00000393141.2 - 8 1271 c.1240C>T c.(1240-1242)Cgg>Tgg p.R414W CASP5_ENST00000444749.2_Missense_Mutation_p.R343W|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Missense_Mutation_p.R414W|CASP5_ENST00000531367.1_Missense_Mutation_p.R259W|CASP5_ENST00000260315.3_Missense_Mutation_p.R401W|CASP5_ENST00000418434.1_Missense_Mutation_p.R259W NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 401 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CTTACCTTCCGAAATATTTCC 0.388000 16 66 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321172 52321172 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:52321172G>A ENST00000356297.4 - 17 3112 c.3012C>T c.(3010-3012)atC>atT p.I1004I PXDNL_ENST00000543296.1_Silent_p.I1004I NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1004 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) CCGCGCCCACGATCTTCCTGG 0.622000 8 11 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36235043 36235043 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:36235043G>A ENST00000412391.2 - 6 365 c.352C>T c.(352-354)Cgg>Tgg p.R118W AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.R79W|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R79W Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 118 RRM. mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCTCCCTCCGGAACTGCAGG 0.572000 11 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088815 9088815 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9088815T>A ENST00000397910.4 - 1 3203 c.3000A>T c.(2998-3000)aaA>aaT p.K1000N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1000 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 GAGAAGTGAATTTAGAGACCA 0.483000 38 212 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837370 12837370 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12837370C>T ENST00000357726.4 + 3 1107 c.1080C>T c.(1078-1080)atC>atT p.I360I NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 360 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTGTGGGATCGTGGATTCCC 0.617000 45 127 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024701 203024701 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:203024701C>T ENST00000367240.2 + 15 2435 c.1908C>T c.(1906-1908)tcC>tcT p.S636S PPFIA4_ENST00000599966.1_Silent_p.S151S|PPFIA4_ENST00000447715.2_Silent_p.S635S|PPFIA4_ENST00000272198.6_Silent_p.S151S|PPFIA4_ENST00000295706.4_Silent_p.S151S|PPFIA4_ENST00000414050.2_Silent_p.S364S O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 151 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CGGCCCTGTCCCTGGCCAGCG 0.642000 27 42 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45833946 45833946 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:45833946C>T ENST00000397928.1 + 20 3580 c.3135C>T c.(3133-3135)atC>atT p.I1045I TRPM2_ENST00000300481.9_Silent_p.I1025I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.I1045I|TRPM2_ENST00000300482.5_Silent_p.I1045I NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1045 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACCTCCTCATCGCCATGTTCA 0.657000 91 284 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183032982 183032982 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:183032982G>A ENST00000351439.5 - 14 1943 c.1552C>T c.(1552-1554)Cat>Tat p.H518Y PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000358139.2_Missense_Mutation_p.H534Y|PDE1A_ENST00000409365.1_Intron|PDE1A_ENST00000536095.1_Intron|PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000410103.1_Missense_Mutation_p.H534Y NM_001258313.1 NP_001245242.1 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 534 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GTTTACTGATGAATAAACTCA 0.338000 22 48 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10025081 10025081 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:10025081G>A ENST00000378380.3 + 4 915 c.586G>A c.(586-588)Ggg>Agg p.G196R ANKEF1_ENST00000378392.1_Missense_Mutation_p.G196R|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GTCAAGAGAAGGGGTAGTGGA 0.443000 42 126 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140373685 140373685 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140373685C>T ENST00000072869.4 + 1 733 c.555C>T c.(553-555)ttC>ttT p.F185F ADCK2_ENST00000476491.1_Silent_p.F185F NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 185 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CTGAGCGCTTCCTTCGGCAGG 0.597000 32 115 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3237330 3237330 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:3237330C>T ENST00000355072.5 + 63 8755 c.8610C>T c.(8608-8610)acC>acT p.T2870T NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2870 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGAGTCCACCCCCTCCATCA 0.577000 26 32 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62746982 62746982 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:62746982C>T ENST00000377871.3 - 8 1605 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K SLC22A6_ENST00000421062.2_Missense_Mutation_p.E447K|SLC22A6_ENST00000360421.4_Missense_Mutation_p.E447K|SLC22A6_ENST00000458333.2_Missense_Mutation_p.E447K NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 447 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGATACAGTTCCCCAGTATAC 0.517000 10 50 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41416186 41416186 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:41416186C>T ENST00000400454.1 - 31 5679 c.5202G>A c.(5200-5202)agG>agA p.R1734R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1734 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) CCTTGGCATTCCTCCTGGTGG 0.592000 9 24 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753756 140753756 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140753756C>T ENST00000517434.1 + 1 106 c.106C>T c.(106-108)Ccc>Tcc p.P36S PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTCTATTCCCGAGGAGCT 0.662000 9 39 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99032606 99032606 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:99032606T>A ENST00000292478.4 - 2 510 c.260A>T c.(259-261)gAg>gTg p.E87V PTCD1_ENST00000555673.1_Missense_Mutation_p.E136V|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.E136V NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCCAAAACTCTCCTCCTCCTC 0.602000 40 105 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65415739 65415739 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:65415739G>A ENST00000330909.8 - 12 1622 c.1623C>T c.(1621-1623)tcC>tcT p.S541S MAGI1_ENST00000483466.1_Silent_p.S541S|MAGI1_ENST00000402939.2_Silent_p.S541S|MAGI1_ENST00000497477.2_Silent_p.S541S NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 541 PDZ 2. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CAATGGGGATGGACTGGAAGA 0.498000 19 47 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145107471 145107471 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:145107471G>A ENST00000426825.1 - 23 3265 c.3184C>T c.(3184-3186)Ccc>Tcc p.P1062S OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1062 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GAGCCTCGGGGAATGACCACG 0.726000 4 7 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6291937 6291937 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6291937G>A ENST00000525462.1 + 4 718 c.715G>A c.(715-717)Ggg>Agg p.G239R CCKBR_ENST00000532715.1_Missense_Mutation_p.G155R|CCKBR_ENST00000334619.2_Missense_Mutation_p.G239R P32239 GASR_HUMAN cholecystokinin B receptor 197 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CGTGGCCTACGGGCTTATCTC 0.582000 16 61 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121500244 121500244 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:121500244C>T ENST00000260197.7 + 48 6746 c.6617C>T c.(6616-6618)tCa>tTa p.S2206L SORL1_ENST00000525532.1_Missense_Mutation_p.S1150L|SORL1_ENST00000527934.1_Missense_Mutation_p.S821L|SORL1_ENST00000532694.1_Missense_Mutation_p.S1052L|SORL1_ENST00000534286.1_Missense_Mutation_p.S1116L NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2206 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACTGGATTTTCAGATGACGTC 0.398000 18 64 0 0 1 0 0 CD70 970 broad.mit.edu 37 19 6586259 6586259 + Silent SNP C C A rs148252487 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:6586259C>A ENST00000245903.3 - 3 503 c.354G>T c.(352-354)acG>acT p.T118T CD70_ENST00000423145.3_Silent_p.T118T NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 118 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 TGGAGGCCGTCGTGGAGGAGC 0.612000 23 38 2.41591e-17 2.4618e-17 1 1 0 RNF123 63891 broad.mit.edu 37 3 49740938 49740938 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:49740938C>T ENST00000327697.6 + 21 1973 c.1829C>T c.(1828-1830)tCg>tTg p.S610L RNF123_ENST00000432042.1_Missense_Mutation_p.S464L NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 610 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GGCCTCCTCTCGCACCTGCGG 0.622000 OREG0015571 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 21 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33626515 33626515 + Silent SNP C C T rs2296344 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:33626515C>T ENST00000374316.5 + 6 1498 c.438C>T c.(436-438)aaC>aaT p.N146N ITPR3_ENST00000605930.1_Silent_p.N146N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 146 MIR 1. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TGGAGAAGAACGCCATGCGGG 0.612000 44 173 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155792216 155792216 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:155792216G>A ENST00000437809.1 - 4 871 c.749C>T c.(748-750)aCc>aTc p.T250I GON4L_ENST00000271883.5_Missense_Mutation_p.T250I|GON4L_ENST00000368331.1_Missense_Mutation_p.T250I|GON4L_ENST00000361040.5_Missense_Mutation_p.T250I|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 250 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTTCCTCTTGGTACCCTTTTT 0.438000 59 118 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973695 46973695 + Missense_Mutation SNP G G C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:46973695G>C ENST00000313683.10 - 2 903 c.598C>G c.(598-600)Ccg>Gcg p.P200A PNMAL1_ENST00000438932.2_Missense_Mutation_p.P200A|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 200 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCAAGCCCCGGTTCTTTCTTC 0.597000 15 80 0 0 1 0 0 FAM167A 83648 broad.mit.edu 37 8 11301671 11301671 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:11301671G>A ENST00000284486.4 - 2 788 c.250C>T c.(250-252)Ccc>Tcc p.P84S FAM167A_ENST00000534308.1_Missense_Mutation_p.P84S|FAM167A_ENST00000528897.1_Missense_Mutation_p.P84S NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 84 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 TCTCTCAGGGGGAGCAAGGGC 0.687000 14 61 0 0 1 0 0 SLC18B1 116843 broad.mit.edu 37 6 133100506 133100506 + Silent SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:133100506G>T ENST00000275227.4 - 7 792 c.696C>A c.(694-696)atC>atA p.I232I SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.I106I NM_052831.2 NP_439896.1 Q6NT16 CF192_HUMAN solute carrier family 18, subfamily B, member 1 232 transmembrane transport integral to membrane TGGGTAAAGCGATCAGTTTCC 0.378000 35 42 1.4065e-29 1.43907e-29 1 1 0 CXXC5 51523 broad.mit.edu 37 5 139060139 139060139 + Missense_Mutation SNP G G T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:139060139G>T ENST00000302517.3 + 2 745 c.31G>T c.(31-33)Gcc>Tcc p.A11S CXXC5_ENST00000511048.1_Missense_Mutation_p.A11S NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 11 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCAGGATGCCGgcggcag 0.687000 4 10 5.9392e-07 5.971e-07 1 1 0 OR6C3 254786 broad.mit.edu 37 12 55725800 55725800 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:55725800G>A ENST00000379667.1 + 1 316 c.316G>A c.(316-318)Gtg>Atg p.V106M NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CTTCATGGGGGTGACTGAATT 0.433000 59 134 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34076675 34076675 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:34076675G>A ENST00000373381.4 - 41 6485 c.6309C>T c.(6307-6309)tcC>tcT p.S2103S CSMD2_ENST00000373388.2_Silent_p.S202S|CSMD2_ENST00000373377.1_Silent_p.S202S|CSMD2_ENST00000373380.1_Silent_p.S976S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2063 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) GCCGATTCTGGGAGTGGTCGC 0.567000 12 22 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78192159 78192159 + Missense_Mutation SNP T T A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:78192159T>A ENST00000535157.1 + 25 1636 c.1466T>A c.(1465-1467)aTt>aAt p.I489N SCEL_ENST00000377246.3_Missense_Mutation_p.I511N|SCEL_ENST00000349847.3_Missense_Mutation_p.I531N NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 531 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GACAATCTTATTAAAGTGAAA 0.368000 27 118 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581636 82581636 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:82581636C>T ENST00000423517.2 - 5 8970 c.8633G>A c.(8632-8634)gGt>gAt p.G2878D PCLO_ENST00000333891.8_Missense_Mutation_p.G2878D NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2809 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 ATTTGTGACACCAACAGGAGG 0.463000 29 87 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30124747 30124747 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:30124747G>A ENST00000449742.2 - 5 939 c.864C>T c.(862-864)ctC>ctT p.L288L TRIM10_ENST00000376704.3_Silent_p.L288L NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 288 cytoplasm zinc ion binding ovary(1) 1 TCTGCAGCGGGAGGGCCTGCT 0.597000 20 81 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49221845 49221845 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:49221845G>A ENST00000340334.7 - 4 696 c.328C>T c.(328-330)Ccc>Tcc p.P110S FOLH1_ENST00000356696.3_Missense_Mutation_p.P125S|FOLH1_ENST00000533034.1_Missense_Mutation_p.P110S|FOLH1_ENST00000256999.2_Missense_Mutation_p.P125S|FOLH1_ENST00000343844.4_Intron NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 125 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) ATGTAGTTGGGATGAGTCTTA 0.338000 5 11 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113308578 113308578 + Splice_Site SNP A A G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:113308578A>G ENST00000263331.5 + 5 1341 c.762_splice c.e5+1 p.K254_splice POLR1B_ENST00000409894.3_Splice_Site_p.K254_splice|POLR1B_ENST00000417433.2_Splice_Site_p.K198_splice|POLR1B_ENST00000537335.1_Splice_Site_p.K43_splice|POLR1B_ENST00000541869.1_Splice_Site_p.K292_splice NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 254 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 TTTGCACTTAAGGTATGACTT 0.358000 61 173 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103183261 103183261 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:103183261G>A ENST00000428762.1 - 43 6747 c.6588C>T c.(6586-6588)atC>atT p.I2196I RELN_ENST00000424685.2_Silent_p.I2196I|RELN_ENST00000343529.5_Silent_p.I2196I NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2196 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CACTAGAAAGGATTCCACACT 0.383000 37 111 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178436548 178436548 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:178436548G>A ENST00000448150.3 + 17 4455 c.3637G>A c.(3637-3639)Gat>Aat p.D1213N RASAL2_ENST00000367649.3_Missense_Mutation_p.D1224N|RASAL2_ENST00000462775.1_Missense_Mutation_p.D1083N NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 1083 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GAAAATAATTGATGCACAGGT 0.428000 29 52 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75898493 75898493 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:75898493G>A ENST00000377636.3 - 11 2424 c.2078C>T c.(2077-2079)tCc>tTc p.S693F TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S693F|TBC1D4_ENST00000377625.2_Intron NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 693 Ser-rich. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AAGACTGGAGGAAGAATTACT 0.413000 13 63 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36901955 36901955 + Missense_Mutation SNP A A C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:36901955A>C ENST00000397224.4 - 2 608 c.515T>G c.(514-516)gTg>gGg p.V172G FOXRED2_ENST00000397223.4_Missense_Mutation_p.V172G|FOXRED2_ENST00000216187.6_Missense_Mutation_p.V172G NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 172 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GCACTGATGCACCTGGCCCTT 0.587000 26 81 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439301 150439301 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150439301C>T ENST00000358647.3 + 3 441 c.74C>T c.(73-75)cCa>cTa p.P25L GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGCAACACCACCGGCATTG 0.453000 26 116 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118147032 118147032 + Silent SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:118147032C>T ENST00000365713.2 + 8 1882 c.1719C>T c.(1717-1719)atC>atT p.I573I LONRF3_ENST00000304778.7_Silent_p.I573I|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.I614I|LONRF3_ENST00000422289.2_Silent_p.I358I Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 614 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 TCCTAGAGATCAGAAATGTTC 0.507000 73 55 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96779469 96779469 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:96779469G>A ENST00000359933.4 - 25 4668 c.3775C>T c.(3775-3777)Ctt>Ttt p.L1259F NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1259 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACGGTAAGAAGAGATCGGATT 0.378000 17 78 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504278 220504278 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:220504278C>T ENST00000358055.3 + 20 3610 c.3098C>T c.(3097-3099)tCc>tTc p.S1033F SLC4A3_ENST00000317151.3_Missense_Mutation_p.S1033F|SLC4A3_ENST00000273063.6_Missense_Mutation_p.S1060F|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S1033F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S1060F P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1033 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCATTGGCTCCCTGGGGGGG 0.652000 5 58 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61048386 61048386 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:61048386G>A ENST00000335613.5 - 8 1495 c.1109C>T c.(1108-1110)tCa>tTa p.S370L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 370 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GCCCCTGGGTGAGGAAGGGGT 0.677000 2 4 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080470 194080470 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:194080470G>A ENST00000347624.3 - 2 1388 c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C LRRC15_ENST00000439944.2_Missense_Mutation_p.R441C|LRRC15_ENST00000428839.1_Missense_Mutation_p.R441C NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 435 LRRCT. integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGCCAGTTGCGGAGCGGAAGG 0.562000 11 28 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57372336 57372336 + Missense_Mutation SNP C C T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:57372336C>T ENST00000607273.1 + 8 829 c.742C>T c.(742-744)Cct>Tct p.P248S PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 248 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AAGACTTCAGCCTCTGCTCAA 0.418000 5 66 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320340 38320340 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:38320340G>A ENST00000379705.3 - 3 1488 c.631C>T c.(631-633)Ctg>Ttg p.L211L TRPC4_ENST00000379681.3_Silent_p.L211L|TRPC4_ENST00000358477.2_Silent_p.L211L|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Silent_p.L211L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Silent_p.L211L|TRPC4_ENST00000355779.2_Silent_p.L211L|TRPC4_ENST00000426868.2_Silent_p.L211L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 211 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCGCTTGACAGTGCAATGAGA 0.493000 18 76 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125867302 125867302 + Missense_Mutation SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:125867302G>A ENST00000392693.3 - 12 2289 c.2162C>T c.(2161-2163)cCa>cTa p.P721L CDON_ENST00000531738.1_Missense_Mutation_p.P98L|CDON_ENST00000263577.7_Missense_Mutation_p.P721L NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 721 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGGTGCCTCTGGAACTAAACA 0.438000 4 16 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839288 42839288 + Silent SNP C C G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:42839288C>G ENST00000334370.4 + 4 1295 c.660C>G c.(658-660)gcC>gcG p.A220A MEGF8_ENST00000251268.6_Silent_p.A220A NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 220 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACGTGAGTGCCAGGGACCCTG 0.652000 6 25 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349799 233349799 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:233349799G>A ENST00000304546.1 - 4 1068 c.858C>T c.(856-858)atC>atT p.I286I ECEL1_ENST00000409941.1_Silent_p.I286I NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 286 I -> V (in Ref. 1; CAA76113). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATGCTGCCAGGATCTGCACCA 0.652000 15 20 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170040 58170040 + Silent SNP G G A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:58170040G>A ENST00000309403.2 - 1 842 c.843C>T c.(841-843)ccC>ccT p.P281P NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 281 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) GGTTCAGCATGGGGATGACCA 0.433000 17 85 0 0 1 0 0 DDX11L1 100287102 broad.mit.edu 37 1 13417 13418 + RNA INS - - GAGA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:13417_13418insGAGA ENST00000456328.2 + 0 665_666 NR_046018.2|NR_051986.1 TCCACCACCCCGAGATCACATT 0.559 8 36 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113569025 113569025 + Frame_Shift_Del DEL T T - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:113569025delT ENST00000297405.5 - 25 4445 c.4201delA c.(4201-4203)ggfs p.R1401fs CSMD3_ENST00000343508.3_Frame_Shift_Del_p.R1361fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.R1401fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.R1297fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1401 Sushi 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCCATGCCCTTCTCTCCCCT 0.428 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 57 82 --- --- --- --- NPIPB5 100132247 broad.mit.edu 37 16 22545540 22545558 + Frame_Shift_Del DEL CGAGCGTCTGCGGGGGCCG CGAGCGTCTGCGGGGGCCG - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG ENST00000424340.1 + 7 1515_1533 c.1236_1254delCGAGCGTCTGCGGGGGCCG c.(1234-1254)gcfs p.AERLRGP412fs NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT 0.562 5 9 --- --- --- --- RP11-1094M14.11 0 broad.mit.edu 37 17 33900514 33900515 + RNA INS - - A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:33900514_33900515insA ENST00000592381.1 + 0 382 gaccctgtcttaaaaaaaaaaa 0.411 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 9 65 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 14 112 --- --- --- ---