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 FAM66D 100132923 broad.mit.edu 37 8 11986659 11986659 + RNA SNP C C T rs61256223 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:11986659C>T ENST00000434078.2 + 0 608 NR_027425.1 TCACAGAGGTCGACACGGGTC 0.547000 12 38 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745467 135745467 + Silent SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:135745467T>C ENST00000375845.3 - 7 1005 c.975A>G c.(973-975)gaA>gaG p.E325E MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.E342E|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E212E NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 ACTGCCCTTTTTCAAAGTGAG 0.398000 35 63 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539836 111539836 + Nonsense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:111539836G>A ENST00000394595.3 - 4 448 c.193C>T c.(193-195)Caa>Taa p.Q65* PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Silent_p.F140F|PITX2_ENST00000354925.2_Silent_p.F133F|PITX2_ENST00000355080.5_Silent_p.F87F|PITX2_ENST00000394598.2_Silent_p.F133F Q99697 PITX2_HUMAN paired-like homeodomain 2 65 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GACGATTCTTGAACCAAACCT 0.587000 19 97 0 0 1 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863838 64863838 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:64863838C>T ENST00000313349.3 - 2 465 c.168G>A c.(166-168)gaG>gaA p.E56E SERTAD2_ENST00000476805.1_5'UTR NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 56 SERTA. negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 GCAAGCTGGGCTCTGTCAGGG 0.507000 89 172 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516169 140516169 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:140516169C>T ENST00000231134.5 + 1 1370 c.1153C>T c.(1153-1155)Cag>Tag p.Q385* NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 385 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCTCCATCCAGAATGATCT 0.483000 26 61 0 0 1 0 0 HMSD 284293 broad.mit.edu 37 18 61627430 61627430 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:61627430G>A ENST00000526932.1 + 2 158 c.158G>A c.(157-159)cGa>cAa p.R53Q HMSD_ENST00000408945.3_Silent_p.T87T|HMSD_ENST00000481726.1_3'UTR A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain containing 0 extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 ACCAAGCAACGATAAAACAGC 0.353000 28 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179431647 179431647 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:179431647G>A ENST00000589042.1 - 326 79436 c.79212C>T c.(79210-79212)acC>acT p.T26404T TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T24763T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.T17464T|TTN_ENST00000342992.6_Silent_p.T23836T|TTN_ENST00000342175.6_Silent_p.T17531T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.T17339T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24763 Ig-like 127. 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) TCCAACAGACGGTCATGGAGT 0.408000 57 167 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262400 45262400 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:45262400C>T ENST00000303230.4 - 8 2353 c.2296G>A c.(2296-2298)Gaa>Aaa p.E766K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 766 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGTGCACTTCATTTTTCGGC 0.657000 38 19 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101873 9101873 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:9101873C>T ENST00000377424.4 - 5 721 c.542G>A c.(541-543)gGt>gAt p.G181D SLC2A5_ENST00000536305.1_Missense_Mutation_p.G122D|SLC2A5_ENST00000377414.3_Missense_Mutation_p.G181D|SLC2A5_ENST00000535586.1_Missense_Mutation_p.G66D NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 181 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) ATTCCGAAGACCAAAGATCTG 0.577000 31 71 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40405532 40405532 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:40405532T>G ENST00000542756.1 - 3 1933 c.1910A>C c.(1909-1911)aAg>aCg p.K637T SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.K637T|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.K637T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.K637T|SLC8A1-AS1_ENST00000601679.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 637 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCCACCTTTCTTCTCACTCAT 0.507000 17 319 0 0 1 0 0 NAT8L 339983 broad.mit.edu 37 4 2065650 2065650 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:2065650C>T ENST00000423729.2 + 3 705 c.705C>T c.(703-705)ttC>ttT p.F235F NAT8L_ENST00000331662.3_Silent_p.F67F NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 235 N-acetyltransferase. integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) TGCTGGAGTTCGCCGTGGTGC 0.652000 13 20 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94120193 94120193 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:94120193G>A ENST00000553484.1 + 38 6526 c.6372G>A c.(6370-6372)acG>acA p.T2124T UNC79_ENST00000555664.1_Silent_p.T2063T|UNC79_ENST00000256339.4_Silent_p.T1925T|UNC79_ENST00000393151.2_Silent_p.T2102T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2102 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCCAAAGCACGATCAAAGGTA 0.547000 130 235 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33030997 33030997 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:33030997G>A ENST00000340811.4 - 3 925 c.817C>T c.(817-819)Ccg>Tcg p.P273S PKP2_ENST00000070846.6_Missense_Mutation_p.P273S NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 273 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GGCACCAGCGGCCTGACCTGC 0.662000 30 53 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10708096 10708096 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:10708096G>A ENST00000377022.3 - 16 3576 c.3259C>T c.(3259-3261)Cct>Tct p.P1087S RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.P1087S NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1087 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGGACCGGAGGGGACGAGGGG 0.692000 10 13 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151927076 151927076 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:151927076C>T ENST00000355193.2 - 18 3126 c.2908G>A c.(2908-2910)Gca>Aca p.A970T KMT2C_ENST00000262189.6_Missense_Mutation_p.A970T lysine (K)-specific methyltransferase 2C CTTCCTTCTGCTCCTTGGCCA 0.353000 39 854 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70977722 70977722 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:70977722C>T ENST00000393567.2 - 42 6812 c.6662G>A c.(6661-6663)cGg>cAg p.R2221Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2221 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CACCTGTATCCGCTCTGCCAG 0.617000 14 36 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53607976 53607976 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:53607976G>A ENST00000342160.3 - 42 5988 c.5531C>T c.(5530-5532)tCa>tTa p.S1844L HUWE1_ENST00000262854.6_Missense_Mutation_p.S1844L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1844 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGTAGCTGCTGAGCGAACAAC 0.468000 12 7 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91404584 91404584 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:91404584G>A ENST00000370440.1 - 3 2544 c.2327C>T c.(2326-2328)tCa>tTa p.S776L ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S776L|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ACTTGATGATGAAAACAGGTG 0.343000 90 96 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46727067 46727067 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:46727067G>A ENST00000318962.4 - 7 817 c.734C>T c.(733-735)cCg>cTg p.P245L ALS2CL_ENST00000415953.1_Missense_Mutation_p.P245L NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 245 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity p.P245L(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) AGCCCGCAACGGTGCGACCGT 0.612000 22 28 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81197325 81197325 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:81197325G>A ENST00000533478.1 - 0 1412 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGCTCTTTGGGAAACTCATGA 0.547000 4 14 0 0 1 0 0 RPH3AL 9501 broad.mit.edu 37 17 171119 171119 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:171119G>A ENST00000323434.8 - 4 762 c.165C>T c.(163-165)atC>atT p.I55I RPH3AL_ENST00000536489.2_Silent_p.I55I|RPH3AL_ENST00000331302.7_Silent_p.I55I NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 55 RabBD. exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) TGACCTGCAGGATGGCCTCCA 0.677000 35 22 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615609 140615609 + RNA SNP G G A rs2909999 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:140615609G>A ENST00000526308.1 + 0 1672 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCCGCCCCAGGACCCGCACCT 0.652000 9 242 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5418622 5418622 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:5418622G>A ENST00000282908.5 + 6 945 c.523G>A c.(523-525)Gaa>Aaa p.E175K STK32B_ENST00000510398.1_Missense_Mutation_p.E128K|STK32B_ENST00000512636.1_Intron NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 175 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 GAAAGGAGCAGAAAGGGCTTC 0.522000 16 17 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33764522 33764522 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:33764522A>T ENST00000216968.4 + 4 705 c.623A>T c.(622-624)tAc>tTc p.Y208F EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 208 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) AGCCGCTCCTACACTTCGCTG 0.537000 8 21 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43107167 43107167 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:43107167C>T ENST00000230419.4 + 10 1743 c.1522C>T c.(1522-1524)Ccc>Tcc p.P508S PTK7_ENST00000352931.2_Missense_Mutation_p.P508S|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.P516S|PTK7_ENST00000345201.2_Intron NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 508 Ig-like C2-type 6. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CACACCACCACCCCAGCCACA 0.602000 12 68 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6651076 6651076 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:6651076G>A ENST00000299441.3 - 11 5273 c.4862C>T c.(4861-4863)gCc>gTc p.A1621V NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1621 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGTCTGAGGCCACCACTGT 0.662000 13 69 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7247215 7247215 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:7247215C>T ENST00000158762.3 + 8 815 c.609C>T c.(607-609)ttC>ttT p.F203F ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 203 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CTACCCATTTCCAGCAGGGCC 0.652000 17 6 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293609 3293609 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:3293609C>T ENST00000219596.1 - 10 1917 c.1878G>A c.(1876-1878)tgG>tgA p.W626* MEFV_ENST00000536379.1_Nonsense_Mutation_p.W415*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.W446*|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 626 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCAGCCTCTCCCACTTGTTTC 0.488000 78 302 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33035909 33035909 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:33035909C>T ENST00000242209.4 + 7 1343 c.1174C>T c.(1174-1176)Ctc>Ttc p.L392F FKBP9_ENST00000538443.1_Missense_Mutation_p.L254F|FKBP9_ENST00000490776.2_Missense_Mutation_p.L160F|FKBP9_ENST00000538336.1_Missense_Mutation_p.L445F|AVL9_ENST00000404479.1_Intron NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 392 PPIase FKBP-type 4. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GGGAGATTACCTCAAATATCA 0.527000 57 84 0 0 1 0 0 SMPD2 6610 broad.mit.edu 37 6 109764995 109764995 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:109764995G>A ENST00000258052.3 + 10 1518 c.1159G>A c.(1159-1161)Gct>Act p.A387T NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 387 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) TAGGGCCCAGGCTGAGCTCCA 0.617000 35 49 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36992681 36992681 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:36992681C>T ENST00000217407.2 + 7 866 c.705C>T c.(703-705)gcC>gcT p.A235A NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 235 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TAGTGGAAGCCCCTCGGGCAA 0.542000 22 47 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126030 8126030 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:8126030C>T ENST00000223145.5 + 8 2063 c.1506C>T c.(1504-1506)tcC>tcT p.S502S NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 502 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CCCGGGTTTCCTTTACGTCTC 0.567000 328 421 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981484 70981484 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:70981484G>A ENST00000276594.2 - 2 813 c.612C>T c.(610-612)ttC>ttT p.F204F NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CGTACAGAACGAAGTGCAGGT 0.602000 15 37 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173655 126173655 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:126173655C>T ENST00000339582.2 - 9 2589 c.1781G>A c.(1780-1782)gGa>gAa p.G594E GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G594E|GRM8_ENST00000358373.3_Missense_Mutation_p.G594E O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 594 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGCGATGATTCCCAATATTGC 0.512000 HNSCC(24;0.065) 43 82 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169194513 169194513 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:169194513G>A ENST00000393743.3 - 18 2782 c.2491C>T c.(2491-2493)Cgt>Tgt p.R831C NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 831 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTCGTAAAACGATTCTGAACA 0.393000 34 32 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40948219 40948219 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:40948219G>A ENST00000246914.5 + 17 3531 c.3510G>A c.(3508-3510)caG>caA p.Q1170Q NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1170 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TGGGGAAGCAGCCCCCACCGG 0.597000 32 26 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:7577114C>T ENST00000420246.2 - 8 956 c.824G>A c.(823-825)tGt>tAt p.C275Y TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGACAGGCACAAACACGCAC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 3 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47451683 47451683 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:47451683C>T ENST00000265562.4 + 20 2472 c.2395C>T c.(2395-2397)Ccc>Tcc p.P799S PTPN23_ENST00000431726.1_Missense_Mutation_p.P673S NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 799 His.|Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTACTCGGGCCCCACCCAGCT 0.692000 10 12 0 0 1 0 0 OCEL1 79629 broad.mit.edu 37 19 17338656 17338656 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:17338656C>T ENST00000215061.4 + 4 504 c.460C>T c.(460-462)Ccg>Tcg p.P154S OCEL1_ENST00000597836.1_Missense_Mutation_p.P98S|OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000601576.1_3'UTR NM_024578.1 NP_078854.1 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 154 central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2) 7 TAGTAAGTACCCGCCAGTGAG 0.547000 33 35 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123556151 123556151 + Missense_Mutation SNP T T A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:123556151T>A ENST00000422452.2 - 24 4505 c.4442A>T c.(4441-4443)aAa>aTa p.K1481I TENM1_ENST00000371130.3_Missense_Mutation_p.K1474I|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGGATCAATTTTGCAGTCACA 0.448000 4 82 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42751272 42751272 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:42751272T>C ENST00000310232.6 - 15 1975 c.1892A>G c.(1891-1893)aAc>aGc p.N631S NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 631 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GTTGTGCCTGTTGTTAGAGGT 0.602000 40 96 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56626602 56626602 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:56626602C>T ENST00000266980.4 + 3 710 c.417C>T c.(415-417)ctC>ctT p.L139L SLC39A5_ENST00000454355.2_Silent_p.L139L NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 139 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCCTGGACCTCCTTCACAGGC 0.612000 16 79 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683613 100683613 + Silent SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:100683613T>G ENST00000306151.4 + 3 8980 c.8916T>G c.(8914-8916)gcT>gcG p.A2972A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2972 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTACAACTGCTGAAGGTACCA 0.517000 130 1018 0 0 1 0 0 FAM221A 340277 broad.mit.edu 37 7 23731181 23731181 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:23731181G>A ENST00000344962.4 + 4 692 c.603G>A c.(601-603)gcG>gcA p.A201A FAM221A_ENST00000409653.1_Silent_p.A143A|FAM221A_ENST00000409192.3_Silent_p.A201A|FAM221A_ENST00000409994.3_Silent_p.A143A NM_199136.3 NP_954587.2 A4D161 CG046_HUMAN family with sequence similarity 221, member A 201 GCTCGCTGGCGGAAGGCTACA 0.438000 34 283 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33338105 33338105 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:33338105G>A ENST00000374796.2 - 10 4463 c.1893C>T c.(1891-1893)tcC>tcT p.S631S NCOA6_ENST00000359003.2_Silent_p.S631S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 631 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TCTGGCCCTGGGAGGGCACGA 0.577000 60 100 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43381791 43381791 + Silent SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:43381791G>T ENST00000296088.7 + 5 1048 c.744G>T c.(742-744)cgG>cgT p.R248R SNRK_ENST00000429705.2_Silent_p.R248R|SNRK_ENST00000454177.1_Silent_p.R248R|SNRK_ENST00000437827.1_Silent_p.R42R NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 248 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) TAATCACACGGATGCTACAGA 0.403000 115 231 1.49884e-55 1.56789e-55 1 1 0 CBX2 84733 broad.mit.edu 37 17 77758177 77758177 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:77758177C>T ENST00000310942.4 + 5 1039 c.935C>T c.(934-936)cCc>cTc p.P312L NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 312 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCGAAGGCCCCCAGCGGTGGG 0.677000 7 22 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50592457 50592457 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:50592457T>G ENST00000442544.2 + 7 1798 c.1182T>G c.(1180-1182)gaT>gaG p.D394E DCC_ENST00000412726.1_Missense_Mutation_p.D242E|DCC_ENST00000581580.1_Missense_Mutation_p.D49E|DCC_ENST00000580146.1_3'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 394 Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGAAGTCAGATGAAGGCTTTT 0.443000 28 152 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625972 154625972 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:154625972A>C ENST00000260010.6 + 1 3321 c.1913A>C c.(1912-1914)aAc>aCc p.N638T NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 638 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CCCAGCAGGAACATCTGCTAT 0.537000 21 36 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837846 93837846 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:93837846G>A ENST00000315765.9 + 16 2843 c.2835G>A c.(2833-2835)aaG>aaA p.K945K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 945 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ACAATATTAAGAAGTATCTCA 0.343000 80 141 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792290 143792290 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:143792290C>T ENST00000408949.2 + 1 150 c.90C>T c.(88-90)ttC>ttT p.F30F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TTGGGTTTTTCTTGCTATTCT 0.483000 83 134 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8239147 8239147 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:8239147C>T ENST00000520004.1 - 2 375 c.111G>A c.(109-111)cgG>cgA p.R37R SGK223_ENST00000330777.4_Silent_p.R37R Q86YV5 SG223_HUMAN 37 ATP binding|non-membrane spanning protein tyrosine kinase activity GGTGGTCGCTCCGCAGGCAGA 0.667000 5 36 0 0 1 0 0 TTC31 64427 broad.mit.edu 37 2 74719448 74719448 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:74719448C>T ENST00000233623.5 + 11 1044 c.1037C>T c.(1036-1038)tCc>tTc p.S346F TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 346 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GGAAATCGTTCCTTCTGCCAT 0.632000 32 58 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477473 58477473 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:58477473C>T ENST00000344743.3 - 6 798 c.657G>A c.(655-657)tgG>tgA p.W219* GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W219* NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 219 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CCATTAGATCCCAGCACACAG 0.552000 53 97 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153906277 153906277 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:153906277G>A ENST00000361217.4 - 20 3430 c.3012C>T c.(3010-3012)gaC>gaT p.D1004D NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1004 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCAGGCTCAGGTCTGAGAGAC 0.632000 8 24 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103573348 103573348 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:103573348G>A ENST00000361464.3 - 2 610 c.215C>T c.(214-216)cCt>cTt p.P72L MGEA5_ENST00000439817.1_Missense_Mutation_p.P72L|MGEA5_ENST00000357797.5_Missense_Mutation_p.P72L|MGEA5_ENST00000370094.3_Missense_Mutation_p.P72L|MGEA5_ENST00000419011.2_Missense_Mutation_p.P72L NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 72 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CATAACCCAAGGTCTTCCATA 0.289000 57 48 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131620671 131620671 + Missense_Mutation SNP T T A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:131620671T>A ENST00000261654.5 + 22 2916 c.2357T>A c.(2356-2358)gTt>gAt p.V786D GPR133_ENST00000535015.1_Missense_Mutation_p.V818D|GPR133_ENST00000376682.4_Missense_Mutation_p.V472D|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.V305D NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 786 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGTGCTGTGGTTTTCCAGTAC 0.627000 14 26 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10309361 10309361 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:10309361C>A ENST00000403437.2 - 21 2523 c.2429G>T c.(2428-2430)aGg>aTg p.R810M CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 810 IQ. 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 TTGTTACCTCCTTTGCAACAT 0.343000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 32 108 6.02846e-25 6.2423e-25 1 1 0 ZAN 7455 broad.mit.edu 37 7 100345173 100345173 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:100345173G>A ENST00000542585.1 + 0 1080 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTCACTGCAGGGAGTATCCGG 0.522000 12 150 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158057725 158057725 + Missense_Mutation SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:158057725G>T ENST00000264428.4 + 5 672 c.402G>T c.(400-402)atG>atT p.M134I GLRB_ENST00000509282.1_Missense_Mutation_p.M134I|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.M134I NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 134 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) ATCCAACAATGTACAAGTGTT 0.393000 67 79 1.3268e-25 1.37619e-25 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18706074 18706074 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:18706074G>A ENST00000406451.3 + 12 1847 c.1697G>A c.(1696-1698)gGg>gAg p.G566E HDAC9_ENST00000428307.2_Missense_Mutation_p.G522E|HDAC9_ENST00000401921.1_Missense_Mutation_p.G525E|HDAC9_ENST00000456174.2_Missense_Mutation_p.G538E|HDAC9_ENST00000524023.1_Missense_Mutation_p.G489E|HDAC9_ENST00000406072.1_Missense_Mutation_p.G553E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G569E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G566E|HDAC9_ENST00000405010.3_Missense_Mutation_p.G566E|HDAC9_ENST00000417496.2_Missense_Mutation_p.G564E NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 566 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ATGGAATCTGGGGAGCAGGCT 0.453000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 27 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17818712 17818712 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:17818712G>A ENST00000545871.1 - 3 1879 c.1419C>T c.(1417-1419)tcC>tcT p.S473S RAI2_ENST00000451717.1_Silent_p.S473S|RAI2_ENST00000415486.3_Silent_p.S423S|RAI2_ENST00000360011.1_Silent_p.S473S|RAI2_ENST00000331511.1_Silent_p.S473S NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 473 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) CCTGAAGCACGGAGTCTTCTC 0.478000 268 87 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084665 9084665 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:9084665C>T ENST00000397910.4 - 1 7353 c.7150G>A c.(7150-7152)Gat>Aat p.D2384N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2384 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 TTAGTGACATCCATAGTTGAA 0.473000 15 41 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143772108 143772108 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:143772108C>T ENST00000408898.2 + 1 834 c.796C>T c.(796-798)Ccc>Tcc p.P266S NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GTATGAGAGCCCCAAGGAGCA 0.478000 247 352 0 0 1 0 0 ASCL4 121549 broad.mit.edu 37 12 108169092 108169092 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:108169092A>T ENST00000342331.4 + 1 931 c.100A>T c.(100-102)Agg>Tgg p.R34W NM_203436.2 NP_982260.2 Q6XD76 ASCL4_HUMAN achaete-scute family bHLH transcription factor 4 33 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 13 ACTCCCGCGGAGGGACCCCCT 0.726000 35 49 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39261636 39261636 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:39261636G>A ENST00000280481.7 + 1 371 c.155G>A c.(154-156)gGc>gAc p.G52D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 52 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTGCCTTCGGCAGGGCGTTG 0.701000 6 8 0 0 1 0 0 NGDN 25983 broad.mit.edu 37 14 23946722 23946722 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:23946722C>T ENST00000397154.3 + 10 894 c.881C>T c.(880-882)cCt>cTt p.P294L NGDN_ENST00000408901.3_Missense_Mutation_p.P294L|NGDN_ENST00000556580.1_Missense_Mutation_p.P50L Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 294 regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GATCAGAATCCTATTAAGAAG 0.478000 26 31 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105421299 105421299 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:105421299G>A ENST00000264122.4 - 12 1919 c.1598C>T c.(1597-1599)tCt>tTt p.S533F CBLB_ENST00000403724.1_Missense_Mutation_p.S533F|CBLB_ENST00000394027.3_Missense_Mutation_p.S555F|CBLB_ENST00000405772.1_Missense_Mutation_p.S533F NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 533 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CATGCAAGGAGAAGACTaaag 0.403000 Mis S AML 10 15 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160035656 160035656 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:160035656C>T ENST00000263635.6 + 14 2729 c.2492C>T c.(2491-2493)gCc>gTc p.A831V TANC1_ENST00000454300.1_Missense_Mutation_p.A725V NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 831 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GAAAACACGGCCTTCCTGTGT 0.542000 81 55 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475141 50475141 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:50475141G>A ENST00000602139.1 + 0 1087 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TCCGGGTCCTGGAGGGCCAAA 0.662000 10 33 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42287596 42287596 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:42287596G>A ENST00000302904.4 - 15 2014 c.1522C>T c.(1522-1524)Cgg>Tgg p.R508W UBTF_ENST00000533177.1_Missense_Mutation_p.R471W|UBTF_ENST00000529383.1_Missense_Mutation_p.R508W|UBTF_ENST00000527034.1_Missense_Mutation_p.R471W|UBTF_ENST00000526094.1_Missense_Mutation_p.R471W|UBTF_ENST00000436088.1_Missense_Mutation_p.R508W|UBTF_ENST00000393606.3_Missense_Mutation_p.R471W|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.R471W P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 508 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GCCTTCACCCGGTCATTCTGG 0.532000 OREG0024456 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 145 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10673657 10673657 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:10673657G>A ENST00000423302.2 - 2 289 c.140C>T c.(139-141)tCc>tTc p.S47F MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.S47F|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S38F|MRVI1_ENST00000436272.1_Missense_Mutation_p.S38F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S38F|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR NM_001206880.1|NM_130385.3 NP_001193809.1|NP_569056.4 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 38 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTCCTGCTGGGAGTGGCCACG 0.667000 8 15 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68035871 68035871 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:68035871C>T ENST00000329153.5 + 8 1412 c.1280C>T c.(1279-1281)gCt>gTt p.A427V NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 427 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CGGATCTATGCTGTGGCCACA 0.572000 26 58 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108139321 108139321 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:108139321C>T ENST00000278616.4 + 18 3208 c.2823C>T c.(2821-2823)tcC>tcT p.S941S ATM_ENST00000452508.2_Silent_p.S941S NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 941 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTACCAAATCCCTCCACCTGC 0.388000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 58 45 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954602 70954602 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:70954602C>T ENST00000393567.2 - 46 7827 c.7677G>A c.(7675-7677)aaG>aaA p.K2559K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2559 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ccttctccttcttcccttcgt 0.622000 5 14 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160769859 160769859 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:160769859C>T ENST00000263285.5 + 2 471 c.441C>T c.(439-441)acC>acT p.T147T LY9_ENST00000341032.4_Silent_p.T147T|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.T107T|LY9_ENST00000368039.2_Silent_p.T147T NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 147 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGGAATTCACCCTGTTCGTCT 0.393000 76 102 0 0 1 0 0 DUXAP8 503637 broad.mit.edu 37 22 16150995 16150995 + RNA SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr22:16150995C>T ENST00000447898.1 - 0 1119 CCAATTTCTTCAGCAAGTTGT 0.388000 8 34 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614989 179614989 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:179614989G>A ENST00000360870.5 - 46 12360 c.12138C>T c.(12136-12138)gtC>gtT p.V4046V TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9864 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) GGAACACTGGGACTTTATGTG 0.393000 117 93 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40126934 40126934 + Splice_Site SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:40126934C>T ENST00000235628.1 - 5 557 c.556_splice c.e5-1 p.G186_splice NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 186 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGCTGCGATCCCTAGGCAGA 0.607000 16 31 0 0 1 0 0 HECTD3 79654 broad.mit.edu 37 1 45470430 45470430 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:45470430A>C ENST00000372172.4 - 16 2055 c.1984T>G c.(1984-1986)Ttc>Gtc p.F662V HECTD3_ENST00000372168.3_Missense_Mutation_p.F272V|HECTD3_ENST00000486132.1_5'UTR NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 662 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) CCAAACTTGAACTCAAACGTC 0.527000 61 122 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95726484 95726484 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:95726484G>A ENST00000376887.4 - 23 3015 c.2901C>T c.(2899-2901)tcC>tcT p.S967S ABCC4_ENST00000412704.1_Silent_p.S920S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 967 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CCAGAATCAGGGACCCAAAGG 0.418000 10 23 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144671898 144671898 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:144671898G>A ENST00000532741.1 - 1 732 c.504C>T c.(502-504)ttC>ttT p.F168F EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Silent_p.F118F|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Silent_p.F118F|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000317198.6_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 18 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CTGCCTGGTCGAAAAGTGACT 0.662000 10 12 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43698844 43698844 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:43698844G>A ENST00000395809.1 - 3 2729 c.223C>T c.(223-225)Ctg>Ttg p.L75L RASGEF1A_ENST00000395810.1_Silent_p.L75L|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Silent_p.L83L Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 75 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 CGGGAGCTCAGGAGAAAGGTG 0.652000 6 1 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967631 4967631 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:4967631C>T ENST00000380373.2 - 1 725 c.700G>A c.(700-702)Gag>Aag p.E234K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTAAGCTGCTCCTTTTTGGAT 0.473000 51 92 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 149983316 149983316 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:149983316G>A ENST00000543571.1 - 8 3489 c.2942C>T c.(2941-2943)gCt>gTt p.A981V LATS1_ENST00000253339.5_Missense_Mutation_p.A981V NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 981 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AAGATCAGAAGCTTCAGGACT 0.358000 73 98 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19166711 19166711 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:19166711G>A ENST00000535612.1 + 8 1699 c.1267G>A c.(1267-1269)Gca>Aca p.A423T ARMC6_ENST00000269932.6_Missense_Mutation_p.A398T|ARMC6_ENST00000392335.2_Missense_Mutation_p.A398T|ARMC6_ENST00000392336.3_Missense_Mutation_p.A423T|ARMC6_ENST00000546344.1_Missense_Mutation_p.A330T NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 423 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GGCCATGAAGGCACACCCGCA 0.692000 21 28 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008231 11008231 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:11008231C>T ENST00000377004.4 - 12 1960 c.1961G>A c.(1960-1962)gGg>gAg p.G654E C1orf127_ENST00000377008.4_Missense_Mutation_p.G487E NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 505 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) GAGTCCCGGCCCCTCTATGTC 0.642000 37 56 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30673545 30673545 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:30673545G>A ENST00000376406.3 - 10 4062 c.3415C>T c.(3415-3417)Ccc>Tcc p.P1139S MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P875S NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1139 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GTGGGCTTGGGAGTGACTGGC 0.577000 Other conserved DNA damage response genes 130 190 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059015 79059015 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:79059015G>A ENST00000388820.4 - 19 3448 c.3238C>T c.(3238-3240)Ccc>Tcc p.P1080S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1080 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TCCTCAGAGGGCCCGTAGGAC 0.637000 13 25 0 0 1 0 0 RBMS1 5937 broad.mit.edu 37 2 161174704 161174704 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:161174704C>T ENST00000348849.3 - 3 716 c.286G>A c.(286-288)Gat>Aat p.D96N RBMS1_ENST00000409075.1_Missense_Mutation_p.D63N|RBMS1_ENST00000409289.2_Missense_Mutation_p.D63N|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.D96N|RBMS1_ENST00000409972.1_Missense_Mutation_p.D63N NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 96 RRM 1. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) GTTGTCTTATCCAAAATTGCC 0.284000 19 87 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103113312 103113312 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:103113312C>T ENST00000428762.1 - 65 10489 c.10330G>A c.(10330-10332)Ggg>Agg p.G3444R RELN_ENST00000424685.2_Missense_Mutation_p.G3444R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G3442R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3444 Arg-rich (basic). 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) TGTCTGAGCCCATGTTGTCGT 0.378000 53 151 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122130144 122130144 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:122130144C>A ENST00000334010.7 - 11 2264 c.1843G>T c.(1843-1845)Gct>Tct p.A615S CADPS2_ENST00000313070.7_Missense_Mutation_p.A615S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A615S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A615S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 615 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CAAAGCTGAGCATCTGCATGG 0.333000 24 181 1.96895e-08 1.99829e-08 1 1 0 SSBP4 170463 broad.mit.edu 37 19 18542187 18542187 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:18542187C>T ENST00000270061.6 + 6 614 c.394C>T c.(394-396)Ccc>Tcc p.P132S SSBP4_ENST00000348495.5_Intron NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 132 Pro-rich. nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CCAGCCGTCCCCCCACAACCC 0.701000 6 4 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007852 6007852 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:6007852G>A ENST00000332249.4 - 1 363 c.309C>T c.(307-309)ctC>ctT p.L103L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 103 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) CATGAACCAGGAGCACTGCAA 0.547000 12 27 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27394305 27394305 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:27394305G>A ENST00000429845.2 - 3 431 c.69C>T c.(67-69)atC>atT p.I23I NEK10_ENST00000341435.5_Silent_p.I23I Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 23 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGAGTTACCTGATGGTGATTT 0.378000 17 44 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236437 34236437 + RNA SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:34236437C>T ENST00000587132.1 - 0 1590 TGAGCTTGATCCTGACCCGGT 0.493000 19 62 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404285 20404285 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:20404285C>T ENST00000285600.4 + 1 519 c.460C>T c.(460-462)Ctt>Ttt p.L154F NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGTGGGCGTTCTTCATTCTGT 0.463000 55 236 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49176937 49176937 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:49176937G>A ENST00000307885.4 - 1 975 c.281C>T c.(280-282)aCc>aTc p.T94I ADCY6_ENST00000357869.3_Missense_Mutation_p.T94I|ADCY6_ENST00000550422.1_Missense_Mutation_p.T94I NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 94 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TGTCACCTCGGTATCCTCGAA 0.716000 29 72 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240969462 240969462 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:240969462C>A ENST00000366565.1 - 15 1628 c.1247G>T c.(1246-1248)cGa>cTa p.R416L RGS7_ENST00000401882.1_Missense_Mutation_p.R363L|RGS7_ENST00000366563.1_Missense_Mutation_p.R416L|RGS7_ENST00000407727.1_Missense_Mutation_p.R416L|RGS7_ENST00000348120.2_Missense_Mutation_p.R363L|RGS7_ENST00000331110.7_Missense_Mutation_p.R390L|RGS7_ENST00000366562.4_Missense_Mutation_p.R416L|RGS7_ENST00000366564.1_Missense_Mutation_p.R416L|RGS7_ENST00000446183.2_Missense_Mutation_p.R332L NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 416 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AAATGTGTATCGTCCAGGTTC 0.453000 46 99 6.81593e-30 7.10573e-30 1 1 0 NFRKB 4798 broad.mit.edu 37 11 129744415 129744415 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:129744415G>A ENST00000446488.3 - 19 2142 c.2039C>T c.(2038-2040)cCc>cTc p.P680L NFRKB_ENST00000524794.1_Missense_Mutation_p.P705L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P680L|NFRKB_ENST00000524746.1_Missense_Mutation_p.P680L NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 680 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) TGGGGGCTTGGGTTTTTGCTG 0.522000 142 122 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65233410 65233410 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:65233410C>T ENST00000542895.1 - 32 6475 c.6379G>A c.(6379-6381)Gag>Aag p.E2127K SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.E2127K|SPTB_ENST00000389722.3_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2127 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) TGCAGTGACTCCCAGGAACTA 0.647000 100 145 0 0 1 0 0 HECTD3 79654 broad.mit.edu 37 1 45470428 45470428 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:45470428G>A ENST00000372172.4 - 16 2057 c.1986C>T c.(1984-1986)ttC>ttT p.F662F HECTD3_ENST00000372168.3_Silent_p.F272F|HECTD3_ENST00000486132.1_5'UTR NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 662 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) TCCCAAACTTGAACTCAAACG 0.527000 63 122 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106498356 106498356 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:106498356C>G ENST00000233154.4 + 4 1241 c.799C>G c.(799-801)Cca>Gca p.P267A NCK2_ENST00000393349.2_Missense_Mutation_p.P267A|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 267 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 TGCGCACGCCCCACAGATAAG 0.662000 17 65 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67039854 67039854 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:67039854G>A ENST00000340001.4 - 6 787 c.576C>T c.(574-576)atC>atT p.I192I ABCA9_ENST00000370732.2_Silent_p.I192I|ABCA9_ENST00000453985.2_Silent_p.I192I|ABCA9_ENST00000495634.1_Silent_p.I192I NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 192 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GATTTGTTGCGATCTGAAGAA 0.338000 33 49 0 0 1 0 0 ADAT2 134637 broad.mit.edu 37 6 143755089 143755089 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:143755089G>A ENST00000606514.1 - 3 674 c.90C>T c.(88-90)atC>atT p.I30I ADAT2_ENST00000237283.8_Silent_p.I77I Q7Z6V5 ADAT2_HUMAN adenosine deaminase, tRNA-specific 2 77 tRNA processing hydrolase activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3) 8 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) GGACCTGATCGATGGCCACCA 0.443000 44 144 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116408 15116408 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:15116408C>T ENST00000253699.3 - 14 1849 c.1236G>A c.(1234-1236)gaG>gaA p.E412E ZFYVE20_ENST00000476527.2_Silent_p.E412E NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 412 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TCTGCCTTTCCTCAAGCCTTC 0.637000 32 56 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51771007 51771007 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:51771007G>A ENST00000543196.2 - 3 841 c.636C>T c.(634-636)atC>atT p.I212I GALNT6_ENST00000356317.3_Silent_p.I212I Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 212 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 CCACCAGTATGATCTCCTTGA 0.602000 18 39 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52473730 52473730 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:52473730T>C ENST00000231721.2 - 12 1432 c.1433A>G c.(1432-1434)gAg>gGg p.E478G NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 478 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) AACCACTTCCTCAGGTTCAGC 0.622000 19 35 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13215788 13215788 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:13215788G>A ENST00000592062.1 - 18 2511 c.1941C>T c.(1939-1941)ccC>ccT p.P647P TRMT1_ENST00000357720.4_Silent_p.P647P|TRMT1_ENST00000221504.8_Silent_p.P618P|TRMT1_ENST00000437766.1_Silent_p.P647P Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 647 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CAGGTCCAGGGGGGGTCTGGT 0.602000 OREG0025289 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 209 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257917 16257917 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:16257917C>G ENST00000375759.3 + 11 5386 c.5182C>G c.(5182-5184)Ccg>Gcg p.P1728A NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1728 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGTGACCAGCCGCCTTATCT 0.572000 108 223 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57395215 57395215 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:57395215C>T ENST00000543257.1 - 13 2048 c.1482G>A c.(1480-1482)ggG>ggA p.G494G C8B_ENST00000535057.1_Silent_p.G484G|C8B_ENST00000371237.4_Silent_p.G546G NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 546 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 AATTCCACTTCCCATCAATGG 0.453000 32 52 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33346880 33346880 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:33346880G>A ENST00000270112.2 + 7 1384 c.1024G>A c.(1024-1026)Gat>Aat p.D342N HUNK_ENST00000465574.1_3'UTR NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 342 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TTCTCTGGAAGATCTGAGCCC 0.582000 31 75 0 0 1 0 0 GBGT1 26301 broad.mit.edu 37 9 136029624 136029624 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:136029624G>A ENST00000372043.3 - 7 650 c.365C>T c.(364-366)tCc>tTc p.S122F GBGT1_ENST00000540636.1_Silent_p.F111F|GBGT1_ENST00000372040.3_Silent_p.F128F|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.P141S|RALGDS_ENST00000542690.1_Intron NM_021996.4 NP_068836.2 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) CTGACTCCAGGAAGGACTGGA 0.607000 26 10 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482330 142482330 + RNA SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:142482330A>C ENST00000603901.1 + 0 710 NR_001296.3 AACTATGTGGACTGGATTAAG 0.498000 10 171 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208202359 208202359 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:208202359T>C ENST00000367033.3 - 30 6011 c.5254A>G c.(5254-5256)Att>Gtt p.I1752V PLXNA2_ENST00000483048.1_5'UTR NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1752 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGGTTCTTAATCACGTTCACC 0.562000 36 56 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518129 108518129 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:108518129G>A ENST00000375915.2 - 1 954 c.816C>T c.(814-816)gaC>gaT p.D272D NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 272 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GAGCATGGTGGTCATAGTCCT 0.512000 58 44 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20199046 20199046 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:20199046C>T ENST00000400331.5 - 5 1246 c.938G>A c.(937-939)aGc>aAc p.S313N MACC1_ENST00000589011.1_Missense_Mutation_p.S313N|MACC1_ENST00000332878.4_Missense_Mutation_p.S313N NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 313 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TTTACCCAAGCTGTGTAAACA 0.398000 56 87 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79432380 79432380 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:79432380G>A ENST00000554719.1 + 9 1780 c.1289G>A c.(1288-1290)gGa>gAa p.G430E NRXN3_ENST00000335750.5_Missense_Mutation_p.G430E NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACAATGGTGGGAGACCATACC 0.428000 24 69 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101384215 101384215 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:101384215G>A ENST00000312938.4 - 4 1796 c.1216C>T c.(1216-1218)Cat>Tat p.H406Y NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 ATTTCAGGATGGGAATCAGCT 0.423000 55 87 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131296312 131296312 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:131296312G>A ENST00000379264.2 - 19 1968 c.1860C>T c.(1858-1860)gcC>gcT p.A620A ACSL6_ENST00000431707.1_Silent_p.A575A|ACSL6_ENST00000379249.3_Silent_p.A595A|ACSL6_ENST00000379246.1_Silent_p.A606A|ACSL6_ENST00000379272.2_Silent_p.A610A|ACSL6_ENST00000379244.1_Silent_p.A595A|ACSL6_ENST00000379240.1_Silent_p.A595A|ACSL6_ENST00000296869.4_Silent_p.A620A|ACSL6_ENST00000357096.1_Silent_p.A520A|ACSL6_ENST00000543479.1_Silent_p.A595A|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379255.1_Silent_p.A520A|ACSL6_ENST00000544770.1_Silent_p.A504A NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 595 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTACCAAAAAGGCCTGCAGTG 0.443000 21 16 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196891484 196891484 + Splice_Site SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:196891484C>T ENST00000312428.6 - 7 767 c.667_splice c.e7+1 p.V223_splice DNAH7_ENST00000410072.1_Splice_Site_p.V223_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 223 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCAATTTACCTATGGATTTC 0.284000 30 19 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227140 39227140 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:39227140C>T ENST00000340369.3 - 2 4025 c.3797G>A c.(3796-3798)gGa>gAa p.G1266E XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1266 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AAAGTCAGGTCCTGTCACAGC 0.627000 21 32 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68863657 68863657 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:68863657C>T ENST00000261769.5 + 15 2587 c.2396C>T c.(2395-2397)cCc>cTc p.P799L CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.P738L NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 799 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CGGTATCTTCCCCGCCCTGCC 0.522000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 42 99 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67147728 67147728 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:67147728G>A ENST00000371037.4 + 15 1068 c.991G>A c.(991-993)Gaa>Aaa p.E331K SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.E335K NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 331 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GACTCCAAGGGAAAAAGTGGT 0.572000 123 206 0 0 1 0 0 MRPS33 51650 broad.mit.edu 37 7 140710239 140710239 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:140710239G>A ENST00000393008.3 - 2 350 c.195C>T c.(193-195)ctC>ctT p.L65L MRPS33_ENST00000324787.5_Silent_p.L65L|MRPS33_ENST00000467334.1_Silent_p.L55L|MRPS33_ENST00000469351.1_Silent_p.L65L|MRPS33_ENST00000496958.1_Silent_p.L65L NM_016071.3 NP_057155.1 Q9Y291 RT33_HUMAN mitochondrial ribosomal protein S33 65 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(2)|endometrium(1)|kidney(1) 4 Melanoma(164;0.00956) CAAGAAATCGGAGCGTCTGCA 0.413000 125 142 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132096652 132096652 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:132096652G>A ENST00000296873.7 - 9 1411 c.1128C>T c.(1126-1128)gtC>gtT p.V376V SEPT8_ENST00000378706.1_Silent_p.V376V|SEPT8_ENST00000378699.2_Silent_p.V316V|SEPT8_ENST00000448933.1_Silent_p.V316V|SEPT8_ENST00000378719.2_Silent_p.V376V|SEPT8_ENST00000378701.1_Silent_p.V374V|SEPT8_ENST00000378721.4_Silent_p.V374V|SEPT8_ENST00000458488.2_Silent_p.V376V NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 376 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTCCTGGTGGACCCGCTTCA 0.622000 76 35 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136472298 136472298 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:136472298G>A ENST00000308191.6 + 6 686 c.382_splice c.e6-1 p.G128_splice RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 128 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) TTTCCTGCAGGAAACAGCCTG 0.373000 18 71 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67400487 67400487 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:67400487C>T ENST00000335385.3 - 5 724 c.637G>A c.(637-639)Gag>Aag p.E213K NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 213 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TTGAAGTTCTCCTGGGCATAG 0.567000 104 211 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150440012 150440012 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:150440012A>T ENST00000358647.3 + 3 1152 c.785A>T c.(784-786)gAg>gTg p.E262V 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) GAGCTGAGGGAGAACGAGAGT 0.488000 16 125 0 0 1 0 0 CAPG 822 broad.mit.edu 37 2 85628916 85628916 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:85628916A>C ENST00000263867.4 - 3 437 c.188T>G c.(187-189)cTg>cGg p.L63R CAPG_ENST00000409921.1_Missense_Mutation_p.L63R|CAPG_ENST00000409670.1_Missense_Mutation_p.L63R|CAPG_ENST00000409724.1_Missense_Mutation_p.L63R NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 63 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 ACCTATCCACAGGTGCAGATG 0.617000 48 82 0 0 1 0 0 HSF2BP 11077 broad.mit.edu 37 21 45076619 45076619 + Splice_Site SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:45076619C>T ENST00000291560.2 - 3 368 c.e3-1 HSF2BP_ENST00000542962.1_Intron NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) TTCCCATGTGCTAAAAGAACA 0.373000 12 69 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55525940 55525940 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:55525940G>A ENST00000310373.3 - 8 1400 c.1373C>T c.(1372-1374)cCa>cTa p.P458L CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 76 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CCTGAGAGCTGGGAACCTTAG 0.532000 21 69 0 0 1 0 0 GID4 79018 broad.mit.edu 37 17 17943050 17943050 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:17943050C>T ENST00000268719.4 + 1 445 c.272C>T c.(271-273)cCc>cTc p.P91L GID4_ENST00000376345.3_Missense_Mutation_p.P91L NM_024052.4 NP_076957.3 GID complex subunit 4 ACCGAGTGTCCCCCGCCGGCC 0.776000 2 1 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50732687 50732687 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:50732687G>A ENST00000355832.5 - 5 867 c.789C>T c.(787-789)atC>atT p.I263I PGBD3_ENST00000603152.1_Silent_p.I263I|ERCC6-PGBD3_ENST00000515869.1_Silent_p.I263I|ERCC6-PGBD3_ENST00000447839.2_Silent_p.I263I NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 263 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CATTAAGCATGATTTTTCTGG 0.448000 Direct reversal of damage;Nucleotide excision repair (NER) 93 62 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10388868 10388868 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:10388868G>A ENST00000328655.3 + 3 451 c.411G>A c.(409-411)aaG>aaA p.K137K PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.K137K NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 137 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TGGAAATAAAGGAGGTCGCCA 0.522000 47 151 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990757 47990757 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:47990757G>A ENST00000371741.4 - 2 1506 c.1340C>T c.(1339-1341)tCc>tTc p.S447F NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 447 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CATGTTCATGGATACGATGCT 0.443000 88 191 0 0 1 0 0 SAP130 79595 broad.mit.edu 37 2 128712902 128712902 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:128712902C>G ENST00000357702.5 - 16 2289 c.2158G>C c.(2158-2160)Gaa>Caa p.E720Q SAP130_ENST00000259235.3_Missense_Mutation_p.E685Q|SAP130_ENST00000259234.6_Missense_Mutation_p.E693Q NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 685 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACGTGGATTTCAGACTTGGGT 0.438000 28 105 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83036530 83036530 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:83036530C>T ENST00000307792.3 - 7 1163 c.696G>A c.(694-696)atG>atA p.M232I SEMA3E_ENST00000427262.1_Missense_Mutation_p.M172I NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 232 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGTCAGGAATCATGTATGAAC 0.333000 41 76 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20573388 20573388 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:20573388C>T ENST00000399722.2 + 11 1949 c.1598C>T c.(1597-1599)tCc>tTc p.S533F RBBP8_ENST00000327155.5_Missense_Mutation_p.S533F|RBBP8_ENST00000399725.2_Missense_Mutation_p.S533F|RBBP8_ENST00000360790.5_Missense_Mutation_p.S533F NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 533 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AAGGGCTTTTCCTCAAGCCGT 0.463000 Homologous recombination 42 67 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187968 121187968 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:121187968G>A ENST00000321339.1 + 1 319 c.310G>A c.(310-312)Gat>Aat p.D104N NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 104 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CTTCTCCCGGGATGACGTGGC 0.577000 25 20 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102105249 102105249 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:102105249C>T ENST00000376180.3 + 1 284 c.65C>T c.(64-66)tCa>tTa p.S22L ITGBL1_ENST00000545560.2_5'UTR NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 22 cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTGGGTTGTCAGCTGTTCCT 0.557000 12 99 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47233864 47233864 + Splice_Site SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:47233864G>T ENST00000319190.5 + 10 1655 c.e10+1 TTC7A_ENST00000461601.1_Splice_Site|TTC7A_ENST00000394850.2_Splice_Site|TTC7A_ENST00000263737.6_Splice_Site|TTC7A_ENST00000409245.1_Splice_Site NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TTGTGGGAAGGTAAGGCCCAG 0.597000 8 46 1.26484e-09 1.28582e-09 1 1 0 ANKAR 150709 broad.mit.edu 37 2 190541727 190541727 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:190541727T>C ENST00000520309.1 + 2 599 c.511T>C c.(511-513)Ttc>Ctc p.F171L ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.F100L|ANKAR_ENST00000313581.4_Missense_Mutation_p.F171L|ANKAR_ENST00000438402.2_Missense_Mutation_p.F171L|ANKAR_ENST00000461516.1_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 171 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) ACGAGCTAGATTCTCTGAATT 0.363000 23 66 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49407941 49407941 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:49407941C>G ENST00000299191.3 + 1 208 c.91C>G c.(91-93)Ctc>Gtc p.L31V NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 31 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 CATGTCTGACCTCACCTGTGT 0.502000 43 88 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657211 40657211 + Silent SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:40657211A>C ENST00000406785.1 - 2 399 c.210T>G c.(208-210)tcT>tcG p.S70S SLC8A1_ENST00000405269.1_Silent_p.S70S|SLC8A1_ENST00000542756.1_Silent_p.S70S|SLC8A1_ENST00000542024.1_Silent_p.S70S|SLC8A1_ENST00000403092.1_Silent_p.S70S|SLC8A1_ENST00000402441.1_Silent_p.S70S|SLC8A1_ENST00000408028.2_Silent_p.S70S|SLC8A1_ENST00000406391.2_Silent_p.S70S|SLC8A1_ENST00000405901.3_Silent_p.S70S|SLC8A1_ENST00000332839.4_Silent_p.S70S P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 70 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGTCCCCAAAAGAAGGGTCTT 0.423000 12 172 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85051325 85051325 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:85051325C>T ENST00000335459.5 - 5 1144 c.939G>A c.(937-939)ggG>ggA p.G313G TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.G362G NM_001080824.1 NP_001074293.1 TraB domain containing 2A TTTTACTCTTCCCTCTGTACG 0.552000 21 31 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572428 90572428 + RNA SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:90572428C>T ENST00000551025.1 + 0 2437 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GTCACACAGTCGAGTAGACTC 0.348000 79 84 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116407 15116407 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:15116407C>T ENST00000253699.3 - 14 1850 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E413K NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 413 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 CTCTGCCTTTCCTCAAGCCTT 0.637000 32 56 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90281230 90281230 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:90281230C>T ENST00000405460.2 + 85 18139 c.18043C>T c.(18043-18045)Ctt>Ttt p.L6015F GPR98_ENST00000425867.2_Missense_Mutation_p.L1676F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6015 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) GCTGTTTTTCCTTCTGAGTTG 0.408000 8 27 0 0 1 0 0 ACTG1P17 283693 broad.mit.edu 37 15 83395174 83395174 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:83395174G>A ENST00000560958.1 - 0 1112 NR_036446.1 GATCCACATGGAATACTTGTG 0.547000 14 13 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31727646 31727646 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:31727646T>C ENST00000493662.2 + 18 1686 c.1630T>C c.(1630-1632)Tcc>Ccc p.S544P MSH5_ENST00000395853.1_Missense_Mutation_p.S201P|MSH5_ENST00000431848.2_Missense_Mutation_p.S226P|MSH5_ENST00000375703.3_Missense_Mutation_p.S527P|MSH5_ENST00000534153.4_Missense_Mutation_p.S544P|MSH5_ENST00000375740.3_Missense_Mutation_p.S544P|MSH5_ENST00000375742.3_Missense_Mutation_p.S544P|MSH5_ENST00000375750.3_Missense_Mutation_p.S527P|MSH5_ENST00000375755.3_Missense_Mutation_p.S527P GGACCTTGCCTCCCGCCTGGA 0.602000 56 60 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43855019 43855019 + Missense_Mutation SNP G G A rs145463901 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:43855019G>A ENST00000319294.6 + 10 1379 c.1348G>A c.(1348-1350)Gat>Aat p.D450N UBASH3A_ENST00000398367.1_Missense_Mutation_p.D412N|UBASH3A_ENST00000291535.6_Missense_Mutation_p.D412N NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 450 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CTTTGAAAACGATCCCCCATT 0.433000 32 84 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167185042 167185042 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:167185042G>A ENST00000476257.1 - 4 577 c.279C>T c.(277-279)ttC>ttT p.F93F SERPINI2_ENST00000264677.4_Silent_p.F93F|SERPINI2_ENST00000471111.1_Silent_p.F93F|SERPINI2_ENST00000461846.1_Silent_p.F93F O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 93 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 AGATGGCAGAGAAAAATGACT 0.333000 26 40 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44425994 44425994 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:44425994T>C ENST00000372343.3 + 12 2764 c.2102T>C c.(2101-2103)gTt>gCt p.V701A NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 701 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GATGCCCAGGTTGTGGAGGTG 0.547000 90 137 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1018563 1018563 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:1018563C>T ENST00000421673.2 - 31 4288 c.4238G>A c.(4237-4239)gGg>gAg p.G1413E NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1413 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACGGGACTCCCCGCCGTAGG 0.582000 51 75 0 0 1 0 0 UEVLD 55293 broad.mit.edu 37 11 18591776 18591776 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:18591776G>A ENST00000396197.3 - 4 370 c.342C>T c.(340-342)ctC>ctT p.L114L UEVLD_ENST00000379387.4_Silent_p.L92L|UEVLD_ENST00000320750.6_Silent_p.L92L|UEVLD_ENST00000300038.7_Silent_p.L114L|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000543987.1_Silent_p.L114L|UEVLD_ENST00000535484.1_Silent_p.L76L NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 114 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TCCAGTTTTGGAGATAGGGCA 0.363000 28 65 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236944 140236944 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:140236944G>A ENST00000307360.5 + 1 1311 c.1311G>A c.(1309-1311)acG>acA p.T437T PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T437T|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGGGCCACGGCCAGCGTGT 0.672000 7 120 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26900586 26900586 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:26900586C>T ENST00000374168.2 + 22 2256 c.2102C>T c.(2101-2103)aCg>aTg p.T701M RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T685M|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T609M|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T710M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T690M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T609M NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 701 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATGGCTGCCACGTACTCCGCA 0.632000 38 73 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046418 69046418 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:69046418C>T ENST00000295381.3 + 9 1583 c.1164C>T c.(1162-1164)ctC>ctT p.L388L ARHGAP25_ENST00000497079.1_Silent_p.L382L|ARHGAP25_ENST00000409030.3_Silent_p.L381L|ARHGAP25_ENST00000409202.3_Silent_p.L389L|ARHGAP25_ENST00000479844.1_Silent_p.L82L|ARHGAP25_ENST00000467265.1_Silent_p.L349L|ARHGAP25_ENST00000409220.1_Silent_p.L382L NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 388 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CTGAAGACCTCCGAATTTCTA 0.527000 30 138 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616979 77616979 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:77616979G>A ENST00000521891.2 + 2 1104 c.656G>A c.(655-657)gGa>gAa p.G219E ZFHX4_ENST00000455469.2_Missense_Mutation_p.G219E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G219E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G219E|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 219 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) GCATTAGCAGGAGTTGGTCCT 0.468000 HNSCC(33;0.089) 5 33 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869796 4869796 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:4869796C>T ENST00000322101.2 - 1 718 c.643G>A c.(643-645)Ggt>Agt p.G215S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGTCCAAACCCATGGCTGAA 0.527000 51 78 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774325 47774325 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:47774325G>A ENST00000376954.1 + 6 648 c.280G>A c.(280-282)Ggg>Agg p.G94R ZNF81_ENST00000338637.7_Missense_Mutation_p.G94R P51508 ZNF81_HUMAN zinc finger protein 81 94 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) CTTTTTAGATGGGAAATTTGG 0.338000 19 10 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922601 24922601 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:24922601C>T ENST00000329468.2 + 1 2061 c.1587C>T c.(1585-1587)ttC>ttT p.F529F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTCTTTCCTTCCTGACTCTTC 0.532000 125 91 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887272 12887272 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:12887272C>T ENST00000535591.1 - 3 780 c.585G>A c.(583-585)caG>caA p.Q195Q NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 195 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAACGAGCTTCTGAAGATTCC 0.507000 232 412 0 0 1 0 0 ASB17 127247 broad.mit.edu 37 1 76397623 76397623 + Silent SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:76397623T>C ENST00000284142.6 - 1 493 c.354A>G c.(352-354)acA>acG p.T118T NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 118 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 CATAGTCTTTTGTCTTCTTGA 0.343000 23 38 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384781 12384781 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:12384781G>A ENST00000356109.5 - 5 551 c.433C>T c.(433-435)Ccc>Tcc p.P145S ZNF44_ENST00000355684.5_Missense_Mutation_p.P97S NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) ACTCTGGCGGGAGTGTTCTTG 0.418000 54 162 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19379700 19379700 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr22:19379700T>C ENST00000263208.5 - 9 1116 c.860A>G c.(859-861)aAt>aGt p.N287S HIRA_ENST00000541063.1_Missense_Mutation_p.N243S|HIRA_ENST00000340170.4_Missense_Mutation_p.N287S|HIRA_ENST00000546308.1_Missense_Mutation_p.N243S NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 287 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AGAACTCCCATTCTTCTGCTT 0.463000 23 49 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133015206 133015206 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:133015206G>A ENST00000367928.4 - 3 470 c.457C>T c.(457-459)Ccc>Tcc p.P153S NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 153 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) CCATCAGGGGGACACTGAGGA 0.433000 31 122 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47563278 47563278 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:47563278C>T ENST00000285039.7 - 4 696 c.397G>A c.(397-399)Gga>Aga p.G133R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 133 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCCATGTCTCCCATGTTTTGG 0.473000 19 60 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61920061 61920061 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:61920061C>T ENST00000332981.5 + 7 1335 c.950C>T c.(949-951)tCt>tTt p.S317F PRKCH_ENST00000555082.1_Missense_Mutation_p.S156F NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 317 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GGAAATATTTCTCCAACCTCG 0.483000 29 65 0 0 1 0 0 HOXC9 3225 broad.mit.edu 37 12 54396347 54396347 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:54396347G>A ENST00000303450.4 + 2 742 c.672G>A c.(670-672)gaG>gaA p.E224E HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.E224E NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 224 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 GTCGGTATGAGGTGGCCCGGG 0.488000 24 124 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115540378 115540378 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:115540378C>T ENST00000354462.3 + 6 593 c.435C>T c.(433-435)atC>atT p.I145I PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.I313I|PLEKHS1_ENST00000369309.1_Silent_p.I229I pleckstrin homology domain containing, family S member 1 p.I313I(1) AGCTTACCATCGGCAGGATCC 0.408000 28 32 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60073666 60073666 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:60073666C>T ENST00000355131.3 + 7 806 c.583C>T c.(583-585)Cct>Tct p.P195S MS4A4A_ENST00000532114.1_Missense_Mutation_p.P161S|MS4A4A_ENST00000337908.4_Missense_Mutation_p.P214S|MS4A4A_ENST00000395016.3_Missense_Mutation_p.P195S NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 214 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CTGTTGTACCCCTGGTGGGGT 0.458000 66 123 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75160596 75160596 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:75160596G>A ENST00000526177.1 - 4 1998 c.120C>T c.(118-120)atC>atT p.I40I GDPD5_ENST00000533784.1_Silent_p.I59I|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Silent_p.I59I|GDPD5_ENST00000529721.1_Silent_p.I178I|GDPD5_ENST00000336898.3_Silent_p.I178I|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 178 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GTCCTGCCACGATCCAGGAGA 0.637000 3 5 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248684954 248684954 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:248684954G>A ENST00000343414.4 + 1 39 c.7G>A c.(7-9)Gaa>Aaa p.E3K NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAAATGGAGGAAACCAACAA 0.398000 65 138 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24975353 24975353 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:24975353C>T ENST00000323848.9 + 4 553 c.238C>T c.(238-240)Cca>Tca p.P80S SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P80S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P80S NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 80 Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TTTGCAGAATCCAGACTCCAA 0.373000 42 92 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285315 152285315 + Missense_Mutation SNP G G A rs149385928 byFrequency TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:152285315G>A ENST00000368799.1 - 3 2082 c.2047C>T c.(2047-2049)Cgt>Tgt p.R683C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 683 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R683S(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTGTGACGAGTGCCTGAT 0.552000 Ichthyosis 272 502 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318448 79318448 + Missense_Mutation SNP G G C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:79318448G>C ENST00000428286.1 - 9 8204 c.7004C>G c.(7003-7005)cCa>cGa p.P2335R PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2694R Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2694 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTGGCTGACTGGACCAGAGGC 0.537000 5 81 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109285499 109285499 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:109285499G>A ENST00000392644.4 + 16 2437 c.2269G>A c.(2269-2271)Gga>Aga p.G757R ARMC2_ENST00000368972.3_Missense_Mutation_p.G592R|ARMC2_ENST00000481850.1_3'UTR NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 757 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CTTGAAAGAAGGAGGTGGCAT 0.463000 14 19 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25665906 25665906 + Silent SNP C C T rs144239727 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:25665906C>T ENST00000382051.3 + 4 383 c.333C>T c.(331-333)ttC>ttT p.F111F SLC34A2_ENST00000503434.1_Silent_p.F110F|SLC34A2_ENST00000504570.1_Silent_p.F110F NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 111 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.F111F(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCTACTTTTTCGTGTGCTCCC 0.483000 T ROS1 NSCLC 19 79 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68863658 68863658 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:68863658C>T ENST00000261769.5 + 15 2588 c.2397C>T c.(2395-2397)ccC>ccT p.P799P CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.P738P NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 799 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GGTATCTTCCCCGCCCTGCCA 0.522000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 42 100 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406529 105406529 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:105406529G>A ENST00000333244.5 - 7 15378 c.15259C>T c.(15259-15261)Ctc>Ttc p.L5087F AHNAK2_ENST00000557457.1_Missense_Mutation_p.L85F NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5087 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCCGGTGGAGGTTCACACCC 0.572000 68 106 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209964001 209964001 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:209964001C>T ENST00000367021.3 - 7 1071 c.899G>A c.(898-900)aGa>aAa p.R300K IRF6_ENST00000542854.1_Missense_Mutation_p.R205K NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 300 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GATCAGTCCTCTGTCCATGAC 0.547000 HNSCC(57;0.16) 57 63 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826576 34826576 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:34826576G>A ENST00000192788.5 + 14 2614 c.2443G>A c.(2443-2445)Gat>Aat p.D815N UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815N NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 815 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GGATGTAGCAGATGTTCATAT 0.507000 49 250 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133618124 133618124 + Nonsense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:133618124G>A ENST00000409261.1 - 11 1121 c.748C>T c.(748-750)Cga>Tga p.R250* NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R250*|NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.R250*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.R250* NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 250 R -> Q (in dbSNP:rs58963837). protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTTAGTGTTCGATTCTGCTGT 0.413000 6 9 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155157982 155157982 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:155157982C>T ENST00000392825.3 + 9 1603 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.R346W NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 346 Catalytic subdomain B. 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 TCATGTTTTTCGGAAGGCAAC 0.403000 145 359 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156518436 156518436 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:156518436G>A ENST00000361170.2 - 17 1940 c.1930C>T c.(1930-1932)Ccc>Tcc p.P644S NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 644 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCACAGTCGGGAACTACCCCT 0.607000 34 78 0 0 1 0 0 DEFA6 1671 broad.mit.edu 37 8 6782399 6782399 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:6782399C>T ENST00000297436.2 - 2 284 c.244G>A c.(244-246)Gaa>Aaa p.E82K NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 82 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TAGGAATATTCTGTTGAATAA 0.448000 24 54 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150931118 150931118 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:150931118A>C ENST00000309170.3 - 3 1299 c.987T>G c.(985-987)aaT>aaG p.N329K MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.N329K|MED12L_ENST00000273432.4_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 329 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAAGTGTTGTATTTCCTCTTT 0.368000 74 147 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128339516 128339516 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:128339516C>T ENST00000389524.4 + 11 1184 c.1131C>T c.(1129-1131)atC>atT p.I377I MYO7B_ENST00000428314.1_Silent_p.I377I|MYO7B_ENST00000409816.2_Silent_p.I377I Q6PIF6 MYO7B_HUMAN myosin VIIB 377 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCATCCTCATCCGAGGGGAAT 0.627000 45 83 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60599564 60599564 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:60599564G>A ENST00000582809.1 + 5 409 c.e5-1 TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site Q86UE8 TLK2_HUMAN tousled-like kinase 2 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GTATTTGACAGACTCCCGAGA 0.323000 10 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584047 179584047 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:179584047C>T ENST00000589042.1 - 83 24294 c.24070G>A c.(24070-24072)Gag>Aag p.E8024K TTN_ENST00000591111.1_Missense_Mutation_p.E7707K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6780K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7707 Ig-like 62. 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) CTAACAATCTCATTTCCATCC 0.512000 97 250 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933552 44933552 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:44933552C>T ENST00000291187.4 - 6 1708 c.1386G>A c.(1384-1386)aaG>aaA p.K462K ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.K468K NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGCTGAATCCCTTTCCACACT 0.552000 38 39 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98942012 98942012 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:98942012C>T ENST00000432884.2 + 6 586 c.125C>T c.(124-126)aCc>aTc p.T42I ARPC1A_ENST00000262942.5_Missense_Mutation_p.T89I Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 89 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) TGGAAGCCAACCCTGGTGATC 0.512000 91 102 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285787 238285787 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:238285787G>A ENST00000295550.4 - 7 3150 c.2698C>T c.(2698-2700)Ctg>Ttg p.L900L COL6A3_ENST00000392004.3_Silent_p.L694L|COL6A3_ENST00000472056.1_Silent_p.L293L|COL6A3_ENST00000409809.1_Silent_p.L694L|COL6A3_ENST00000392003.2_Silent_p.L493L|COL6A3_ENST00000347401.3_Silent_p.L699L|COL6A3_ENST00000353578.4_Silent_p.L694L|COL6A3_ENST00000346358.4_Silent_p.L700L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 900 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACAAGATTCAGGATCTCAGGC 0.517000 52 48 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52258209 52258209 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:52258209G>A ENST00000494383.1 - 5 582 c.583C>T c.(583-585)Cct>Tct p.P195S TLR9_ENST00000360658.2_Silent_p.G41G|TLR9_ENST00000597542.1_Silent_p.G65G Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGTTCACCAGGCCGTGGGGCT 0.622000 27 54 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53879058 53879058 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:53879058C>T ENST00000474037.1 + 3 185 c.51C>T c.(49-51)ttC>ttT p.F17F ZNF525_ENST00000593918.1_Silent_p.F17F|ZNF525_ENST00000491101.1_Silent_p.F17F|ZNF525_ENST00000475179.1_Silent_p.F17F|ZNF525_ENST00000467003.1_5'UTR zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 CCATAGAATTCTCTCAGGAGG 0.448000 10 194 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58620639 58620639 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:58620639G>A ENST00000317147.5 - 7 779 c.447C>T c.(445-447)atC>atT p.I149I CNOT1_ENST00000569240.1_Silent_p.I149I|CNOT1_ENST00000441024.2_Silent_p.I149I NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 149 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCTTCTGTTTGATAAACTGGG 0.413000 131 209 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39878705 39878705 + Silent SNP T T A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:39878705T>A ENST00000303538.8 - 19 2600 c.2061A>T c.(2059-2061)ctA>ctT p.L687L NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 687 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CCTCCATTCTTAGGCACTGTA 0.408000 59 77 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133365751 133365751 + Silent SNP G G A rs80194721 byFrequency TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:133365751G>A ENST00000204726.3 - 13 3231 c.2673C>T c.(2671-2673)caC>caT p.H891H GOLGA3_ENST00000450791.2_Silent_p.H891H|GOLGA3_ENST00000537452.1_Silent_p.H891H|GOLGA3_ENST00000545875.1_Silent_p.H891H|GOLGA3_ENST00000456883.2_Silent_p.H891H NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 891 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTTCTCCCCGTGCACTTGCA 0.637000 5 96 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15382643 15382643 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:15382643C>T ENST00000376030.2 + 5 1077 c.783C>T c.(781-783)gcC>gcT p.A261A KAZN_ENST00000400797.3_Silent_p.A167A|KAZN_ENST00000361144.5_Silent_p.A255A|KAZN_ENST00000503743.1_Silent_p.A261A|KAZN_ENST00000422387.2_Silent_p.A261A|KAZN_ENST00000400798.2_Silent_p.A167A NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 261 Interaction with PPL. keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 ATTCCCTCGCCATGCCGGGCG 0.602000 28 65 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39261635 39261635 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:39261635G>A ENST00000280481.7 + 1 370 c.154G>A c.(154-156)Ggc>Agc p.G52S NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 52 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CGCTGCCTTCGGCAGGGCGTT 0.706000 6 8 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21215482 21215482 + Missense_Mutation SNP A A G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:21215482A>G ENST00000382778.4 + 19 2772 c.1654A>G c.(1654-1656)Aaa>Gaa p.K552E IFT88_ENST00000319980.6_Missense_Mutation_p.K552E|IFT88_ENST00000537103.1_Missense_Mutation_p.K524E|IFT88_ENST00000351808.5_Missense_Mutation_p.K543E Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 552 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CTGTTTCCTGAAACTTCACGC 0.338000 28 19 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157490846 157490846 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:157490846C>T ENST00000361835.3 - 11 2633 c.2476G>A c.(2476-2478)Ggg>Agg p.G826R FCRL5_ENST00000356953.4_Missense_Mutation_p.G826R|FCRL5_ENST00000461387.1_5'UTR NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 826 Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity p.G826R(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CGCTGGGCCCCGAGGCCATTG 0.567000 28 71 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128486474 128486474 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:128486474G>A ENST00000325888.8 + 23 4345 c.4084G>A c.(4084-4086)Ggt>Agt p.G1362S FLNC_ENST00000346177.6_Missense_Mutation_p.G1362S NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1362 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGGCCTGGAGGGTGGCTTGGT 0.632000 6 156 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115576111 115576111 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:115576111G>A ENST00000371900.4 + 6 770 c.682G>A c.(682-684)Gga>Aga p.G228R NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 228 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) ACGGTCAAGTGGAATGAATGA 0.373000 55 29 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142851 31142851 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:31142851G>A ENST00000304166.4 + 14 1336 c.1046_splice c.e14-1 p.L349_splice ADCYAP1R1_ENST00000409489.1_Splice_Site_p.L405_splice|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.L328_splice|ADCYAP1R1_ENST00000396211.2_Splice_Site_p.L377_splice NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 349 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CCTCCGACAGGCGACTGGCCC 0.577000 24 268 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1712822 1712822 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:1712822C>T ENST00000397412.3 + 13 2755 c.2656C>T c.(2656-2658)Cca>Tca p.P886S LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P883S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P886S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P264S Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 886 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CCTGCGGAAGCCACTGGTGGT 0.597000 14 32 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31142850 31142850 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:31142850G>A ENST00000304166.4 + 14 1335 c.e14-1 ADCYAP1R1_ENST00000409489.1_Splice_Site|ADCYAP1R1_ENST00000409363.1_Splice_Site|ADCYAP1R1_ENST00000396211.2_Splice_Site NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TCCTCCGACAGGCGACTGGCC 0.577000 24 272 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81596952 81596952 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:81596952G>A ENST00000356860.3 - 30 2761 c.2423C>T c.(2422-2424)tCc>tTc p.S808F CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S20F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S820F NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 820 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTCTATCCAGGAATTTACATC 0.244000 15 31 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62340966 62340966 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:62340966G>A ENST00000371158.2 + 21 3001 c.2887G>A c.(2887-2889)Gga>Aga p.G963R INADL_ENST00000316485.6_Missense_Mutation_p.G963R NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 963 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ATCAACTGAAGGAAACAGTCA 0.338000 53 83 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 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 101 175 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64147735 64147735 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:64147735G>A ENST00000354504.3 - 11 2026 c.1437C>T c.(1435-1437)tcC>tcT p.S479S VPS54_ENST00000409558.3_Silent_p.S620S|VPS54_ENST00000272322.4_Silent_p.S632S Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 632 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TGAATTCCATGGAATTTAGCT 0.328000 8 64 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38323782 38323782 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:38323782C>T ENST00000264645.7 + 9 1794 c.1568C>T c.(1567-1569)tCa>tTa p.S523L NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 523 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 AAACGCTATTCATCCCAGCGG 0.493000 31 35 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177437 153177437 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:153177437C>T ENST00000368747.1 + 2 364 c.254C>T c.(253-255)tCc>tTc p.S85F NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 85 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCCTTCATCCTGCCCACAT 0.642000 14 28 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30558470 30558470 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:30558470C>T ENST00000326195.8 + 25 2642 c.2530C>T c.(2530-2532)Cga>Tga p.R844* ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R237*|ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R806* NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 844 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding p.R844R(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CAGCCGGCCCCGAGAGTGAGC 0.567000 68 100 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67713728 67713728 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:67713728G>A ENST00000335894.4 + 16 2384 c.2318G>A c.(2317-2319)gGg>gAg p.G773E IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.G430E|IQCH_ENST00000360277.4_Missense_Mutation_p.G434E|IQCH_ENST00000358767.3_Missense_Mutation_p.G509E NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 773 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CTGTCGACAGGGGACCAGCTT 0.537000 35 63 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156437412 156437412 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:156437412G>A ENST00000392741.2 + 2 323 c.235G>A c.(235-237)Gaa>Aaa p.E79K RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.E79K|RNF32_ENST00000432459.2_Missense_Mutation_p.E79K|RNF32_ENST00000405335.1_Missense_Mutation_p.E79K|RNF32_ENST00000392740.1_Missense_Mutation_p.E79K|RNF32_ENST00000317955.5_Missense_Mutation_p.E79K|RNF32_ENST00000343665.4_Missense_Mutation_p.E79K|RNF32_ENST00000311822.8_Missense_Mutation_p.E79K Q9H0A6 RNF32_HUMAN ring finger protein 32 79 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTCAGAAAAAGAATATGTTCT 0.358000 22 282 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117351971 117351971 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:117351971G>A ENST00000321322.6 - 13 2755 c.2754C>T c.(2752-2754)gaC>gaT p.D918D DSCAML1_ENST00000527706.1_Silent_p.D648D NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 858 Fibronectin type-III 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGTCCCCACGGTCAGCGGGCT 0.592000 35 31 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2722538 2722538 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:2722538C>T ENST00000320876.6 + 20 2818 c.2480C>T c.(2479-2481)tCa>tTa p.S827L RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S827L NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 827 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GAGAAATTTTCATTTGGTCTT 0.368000 49 94 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101368623 101368623 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:101368623G>A ENST00000392979.3 + 6 814 c.452_splice c.e6-1 p.R151_splice ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Splice_Site_p.R186_splice NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 186 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GTTCTTCCAGGAGAAAAATCT 0.468000 HNSCC(74;0.22) 51 125 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 5 47 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67688755 67688755 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:67688755G>A ENST00000334583.6 + 32 3985 c.3657G>A c.(3655-3657)agG>agA p.R1219R RLTPR_ENST00000545661.1_Silent_p.R1183R NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 1219 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TGCTGCAGAGGATAGGCGTCA 0.597000 54 76 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74737337 74737337 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:74737337T>G ENST00000370895.1 + 7 727 c.692T>G c.(691-693)gTt>gGt p.V231G FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.V231G|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.V231G|TNNI3K_ENST00000326637.3_Missense_Mutation_p.V130G|TNNI3K_ENST00000370891.2_Missense_Mutation_p.V231G Q59H18 TNI3K_HUMAN 130 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding p.V130D(1) ATACAGCAGGTTGGATACGGT 0.428000 20 245 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254660 30254660 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:30254660C>T ENST00000361644.2 + 5 1356 c.619C>T c.(619-621)Ctc>Ttc p.L207F MAGEB3_ENST00000378986.1_Missense_Mutation_p.L207F NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 207 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CCTGCTGAATCTCCTGGGCGT 0.478000 33 16 0 0 1 0 0 ZNF581 51545 broad.mit.edu 37 19 56156207 56156207 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:56156207C>T ENST00000587252.1 + 2 543 c.270C>T c.(268-270)ccC>ccT p.P90P ZNF581_ENST00000588537.1_Silent_p.P90P|ZNF581_ENST00000270451.5_Silent_p.P90P Q9P0T4 ZN581_HUMAN zinc finger protein 581 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) ACAGCTGCCCCGTGTGCTCAA 0.587000 44 47 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57126684 57126684 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:57126684G>A ENST00000376149.3 - 15 1828 c.1019C>T c.(1018-1020)cCc>cTc p.P340L TRIM37_ENST00000262294.7_Missense_Mutation_p.P462L|TRIM37_ENST00000393066.3_Missense_Mutation_p.P462L|TRIM37_ENST00000393065.2_Missense_Mutation_p.P428L O94972 TRI37_HUMAN tripartite motif containing 37 462 MATH. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ATCATTTTGGGGGCTAAGATG 0.428000 Mulibrey Nanism 24 96 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21145749 21145749 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:21145749C>T ENST00000261383.3 - 7 912 c.913G>A c.(913-915)Gag>Aag p.E305K DNAH3_ENST00000415178.1_Missense_Mutation_p.E305K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 305 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGTTTTCTCTCCATTGGGTCC 0.488000 50 127 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147488344 147488344 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:147488344G>A ENST00000359874.3 + 18 1709 c.1636G>A c.(1636-1638)Gat>Aat p.D546N SPINK5_ENST00000398454.1_Missense_Mutation_p.D546N|SPINK5_ENST00000256084.7_Missense_Mutation_p.D546N NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 546 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gaagaaaaatgataaagaaga 0.333000 54 36 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148603912 148603912 + Silent SNP A A T rs139521475 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:148603912A>T ENST00000296046.3 + 10 1066 c.1014A>T c.(1012-1014)ctA>ctT p.L338L RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 338 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTGATGTTCTATCAACTCGAT 0.348000 31 55 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16664808 16664808 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:16664808C>T ENST00000443444.2 + 13 3582 c.3442C>T c.(3442-3444)Ctt>Ttt p.L1148F CCDC144A_ENST00000456009.1_Missense_Mutation_p.L914F|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L1148F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L1148F|CCDC144A_ENST00000360524.8_Missense_Mutation_p.L1148F A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1148 GAATGAAGTTCTTCAACTTCA 0.353000 11 8 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61298806 61298806 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:61298806C>T ENST00000402291.1 + 4 457 c.216C>T c.(214-216)tcC>tcT p.S72S KIAA1841_ENST00000356719.2_Silent_p.S72S|KIAA1841_ENST00000295031.5_Silent_p.S72S|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.S72S NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 72 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AGTATAATTCCCTAATGGCTG 0.398000 47 105 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33496585 33496585 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:33496585G>A ENST00000265371.4 - 11 2199 c.1674C>T c.(1672-1674)tcC>tcT p.S558S NRP1_ENST00000374816.3_Silent_p.S558S|NRP1_ENST00000374821.5_Silent_p.S558S|NRP1_ENST00000374867.2_Silent_p.S558S|NRP1_ENST00000374822.4_Silent_p.S558S|NRP1_ENST00000374823.5_Silent_p.S558S|NRP1_ENST00000395995.1_Silent_p.S558S|NRP1_ENST00000466932.1_Intron O14786 NRP1_HUMAN neuropilin 1 558 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TGAATCGCGTGGAGAGAGCTG 0.493000 53 123 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154862691 154862691 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:154862691G>A ENST00000287907.2 + 1 658 c.82G>A c.(82-84)Gac>Aac p.D28N AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 28 integral to plasma membrane serotonin receptor activity p.D28H(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGGCAAAGACGACCTGCGCCC 0.607000 108 143 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261702 21261702 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:21261702G>A ENST00000311620.5 + 2 888 c.815G>A c.(814-816)gGa>gAa p.G272E NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 272 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CCAGGTCTAGGAAGTATTGTT 0.453000 44 43 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31592753 31592753 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:31592753C>T ENST00000319386.3 + 2 1108 c.115C>T c.(115-117)Ccc>Tcc p.P39S CCDC129_ENST00000451887.2_Missense_Mutation_p.P65S|CCDC129_ENST00000407970.3_Missense_Mutation_p.P39S|CCDC129_ENST00000482748.1_Intron Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 39 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGAGTGGCTGCCCCCTGACCC 0.547000 5 13 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52020287 52020287 + Missense_Mutation SNP A A G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:52020287A>G ENST00000458031.2 + 8 877 c.646A>G c.(646-648)Agg>Ggg p.R216G ACY1_ENST00000476854.1_Missense_Mutation_p.R126G|ACY1_ENST00000476351.1_Missense_Mutation_p.R91G|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000404366.2_Missense_Mutation_p.R126G|ACY1_ENST00000494103.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R227G Q03154 ACY1_HUMAN aminoacylase 1 126 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) GGAAGCTGTGAGGAGGCTGAA 0.637000 23 37 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261053 21261053 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:21261053G>A ENST00000311620.5 + 2 239 c.164_splice c.e2-1 p.G56_splice NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 56 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CTCTTCTAGAGGGGACCCTGA 0.438000 17 40 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35706305 35706305 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:35706305G>A ENST00000314888.9 - 40 5602 c.5249C>T c.(5248-5250)tCc>tTc p.S1750F TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.S1734F NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1750 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGGGTCTTGGAGGCAGCACC 0.602000 181 50 0 0 1 0 0 FAM120AOS 158293 broad.mit.edu 37 9 96214705 96214705 + Missense_Mutation SNP G G C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:96214705G>C ENST00000375412.5 - 1 1169 c.287C>G c.(286-288)cCc>cGc p.P96R FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000333936.5_Intron|FAM120A_ENST00000340893.4_Intron NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 96 Arg-rich. kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 ccggggaccggggccgcgccg 0.746000 8 5 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27457420 27457420 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:27457420G>A ENST00000316403.10 - 7 1446 c.1041C>T c.(1039-1041)tcC>tcT p.S347S CLU_ENST00000405140.3_Silent_p.S347S|CLU_ENST00000560366.1_Silent_p.S399S|CLU_ENST00000546343.1_Silent_p.S358S|CLU_ENST00000523500.1_Silent_p.S347S P10909 CLUS_HUMAN clusterin 347 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) TCCACTGGTAGGACTTTAGCA 0.582000 8 34 0 0 1 0 0 FAM104A 84923 broad.mit.edu 37 17 71228295 71228295 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:71228295G>A ENST00000405159.3 - 1 215 c.151C>T c.(151-153)Ccc>Tcc p.P51S FAM104A_ENST00000583024.1_Missense_Mutation_p.P51S|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.P51S|FAM104A_ENST00000403627.3_Missense_Mutation_p.P51S NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 51 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) CGAAGAGAGGGAACAGAGGGG 0.701000 16 17 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5862774 5862774 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:5862774C>A ENST00000324989.7 - 3 722 c.634G>T c.(634-636)Gtg>Ttg p.V212L CRMP1_ENST00000512574.1_Missense_Mutation_p.V96L|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.V98L NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 98 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) GTCCCGCCCACCAGTGCCGCC 0.577000 14 42 2.61681e-11 2.68245e-11 1 1 0 KLHL4 56062 broad.mit.edu 37 X 86873069 86873069 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:86873069C>T ENST00000373119.4 + 4 1007 c.862C>T c.(862-864)Cga>Tga p.R288* KLHL4_ENST00000373114.4_Nonsense_Mutation_p.R288* NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 288 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CTTAGGGATTCGATCATTTGG 0.418000 60 21 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122629125 122629125 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:122629125G>A ENST00000357599.3 - 23 3707 c.3321C>T c.(3319-3321)atC>atT p.I1107I SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.I1161I NM_001031702.3|NM_001256348.1 NP_001026872.2|NP_001243277.1 Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 1107 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) TGTCATCAGGGATCAAGTTAT 0.537000 37 76 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43906967 43906967 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:43906967G>A ENST00000562955.1 + 52 7256 c.7256G>A c.(7255-7257)cGg>cAg p.R2419Q SZT2_ENST00000372442.1_Missense_Mutation_p.R1577Q NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2476 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACTCGGGGCCGGAGGCGTCAC 0.557000 78 115 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96962802 96962802 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:96962802C>A ENST00000389672.5 + 5 1315 c.1277C>A c.(1276-1278)cCt>cAt p.P426H EPHA6_ENST00000470610.2_Missense_Mutation_p.P426H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 331 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTAGGGCCACCTTCAGCTCCT 0.378000 5 23 0.014758 0.0148549 1 1 0 OXCT2 64064 broad.mit.edu 37 1 40236031 40236031 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:40236031C>G ENST00000327582.5 - 1 989 c.897G>C c.(895-897)agG>agC p.R299S BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 299 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) TGATGCGCGTCCTGGCGTCCT 0.537000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 69 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70160506 70160506 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:70160506G>A ENST00000335568.5 + 6 1571 c.1569G>A c.(1567-1569)ggG>ggA p.G523G UGT2B28_ENST00000511240.1_3'UTR NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 523 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTAGAAAAGGGAAGAAGGGAA 0.388000 20 78 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8993535 8993535 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:8993535C>T ENST00000397910.4 - 66 41757 c.41554G>A c.(41554-41556)Gat>Aat p.D13852N MUC16_ENST00000380951.5_Missense_Mutation_p.D493N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13855 SEA 12. Missing (in Ref. 3; AAK74120). 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 GCTTCCCCATCTTTCTCTGGC 0.592000 10 66 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241534053 241534053 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:241534053C>T ENST00000391984.2 + 6 1120 c.924C>T c.(922-924)ttC>ttT p.F308F CAPN10_ENST00000391982.2_Silent_p.F308F|CAPN10_ENST00000354082.4_Silent_p.F308F|CAPN10_ENST00000404753.3_Silent_p.F308F|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 308 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGGAGGAGTTCCTCAGGGAGT 0.642000 65 35 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31598499 31598499 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:31598499T>C ENST00000376033.2 + 15 2620 c.2386T>C c.(2386-2388)Ttc>Ctc p.F796L PRRC2A_ENST00000376007.4_Missense_Mutation_p.F796L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 796 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGGAGATGTCTTCACCGCCAC 0.587000 4 46 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43683080 43683080 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:43683080C>T ENST00000599812.1 - 3 755 c.660G>A c.(658-660)cgG>cgA p.R220R PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000366175.3_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 127 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCACTGGGTTCCGTATTTCAC 0.493000 181 290 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290506 132290506 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:132290506C>T ENST00000295171.6 + 6 1084 c.946C>T c.(946-948)Ccc>Tcc p.P316S CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P250S NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 316 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGCTAGCTTTCCCAGGTGAGT 0.647000 32 86 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993358 24993358 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:24993358C>T ENST00000323848.9 + 13 1996 c.1681C>T c.(1681-1683)Cct>Tct p.P561S SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P573S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P570S NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 561 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GCGACGGTCTCCTTCTCCCGC 0.507000 24 38 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906375 5906375 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:5906375C>T ENST00000316987.2 + 1 875 c.853C>T c.(853-855)Cca>Tca p.P285S NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGGTTGTCCCACCTGCCCT 0.378000 50 110 0 0 1 0 0 RSPH9 221421 broad.mit.edu 37 6 43624373 43624373 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:43624373G>A ENST00000372165.4 + 4 591 c.538G>A c.(538-540)Gag>Aag p.E180K RSPH9_ENST00000372163.4_Missense_Mutation_p.E195K NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 195 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGAGCCTGTTGAGCTAAAGAA 0.493000 Kartagener syndrome 182 286 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917684 4917684 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:4917684G>A ENST00000399583.3 - 2 274 c.87C>T c.(85-87)tcC>tcT p.S29S RADIL_ENST00000536091.1_Silent_p.S29S NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 29 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TCAGCGTCCGGGACAGCATGC 0.627000 9 15 0 0 1 0 0 LIMS2 55679 broad.mit.edu 37 2 128396952 128396952 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:128396952C>T ENST00000409455.1 - 10 1550 c.915G>A c.(913-915)gaG>gaA p.E305E LIMS2_ENST00000409808.2_Silent_p.E305E|LIMS2_ENST00000409254.1_Silent_p.E158E|LIMS2_ENST00000355119.4_Silent_p.E310E|LIMS2_ENST00000410038.1_Silent_p.E158E|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000409754.1_Silent_p.E158E|LIMS2_ENST00000324938.5_Silent_p.E334E|LIMS2_ENST00000545738.2_Silent_p.E332E|LIMS2_ENST00000409286.1_Silent_p.E158E|LIMS2_ENST00000410011.1_Silent_p.E305E Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 310 LIM zinc-binding 5. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) GCGGGAACTTCTCGTAGCACC 0.587000 117 221 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133467305 133467305 + Silent SNP G G A rs144163861 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:133467305G>A ENST00000402696.3 + 2 578 c.93G>A c.(91-93)tcG>tcA p.S31S TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 31 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GTGCAGTGTCGGAGCATGAGG 0.562000 15 60 0 0 1 0 0 ARMC4P1 101060171 broad.mit.edu 37 10 27577640 27577640 + RNA SNP G G T rs3818746 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:27577640G>T ENST00000576034.1 + 0 530 AACTGTTAGCGATAGCTCCTC 0.403000 3 37 1 1 1 1 0 PIK3C2G 5288 broad.mit.edu 37 12 18534812 18534812 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:18534812C>T ENST00000433979.1 + 13 1986 c.1870C>T c.(1870-1872)Cag>Tag p.Q624* PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q624*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q665* NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 624 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) GGTGACCCTGCAGGTAAGTGC 0.448000 12 97 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132002745 132002745 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:132002745C>T ENST00000286355.5 - 2 3096 c.1004G>A c.(1003-1005)gGa>gAa p.G335E ADCY8_ENST00000377928.3_Missense_Mutation_p.G335E NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 335 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GATGAAGATTCCAGCTGTGTT 0.507000 HNSCC(32;0.087) 81 108 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31451712 31451712 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:31451712G>A ENST00000511367.2 - 20 2854 c.2610C>T c.(2608-2610)atC>atT p.I870I DROSHA_ENST00000442743.1_Silent_p.I833I|DROSHA_ENST00000513349.1_Silent_p.I833I|DROSHA_ENST00000344624.3_Silent_p.I870I NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 870 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GGTGGTAGCGGATATGATGGG 0.333000 17 14 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337269 6337269 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:6337269G>A ENST00000507444.1 - 0 136 NR_028351.1 TCACCATCACGATACCATTGC 0.502000 67 44 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370559 38370559 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:38370559C>T ENST00000322350.5 + 6 1053 c.707C>T c.(706-708)aCc>aTc p.T236I EGFLAM_ENST00000354891.3_Missense_Mutation_p.T236I NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 236 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATCATCCGGACCCTCTGTGAG 0.577000 15 8 0 0 1 0 0 PDGFB 5155 broad.mit.edu 37 22 39626118 39626118 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr22:39626118C>T ENST00000331163.6 - 5 1359 c.572G>A c.(571-573)cGa>cAa p.R191Q PDGFB_ENST00000381551.4_Missense_Mutation_p.R176Q NM_002608.2 NP_002599.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 191 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) CCCCGGGCTTCGGGTCACAGG 0.627000 T COL1A1 DFSP 43 64 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714483 183714483 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:183714483G>A ENST00000511685.1 + 26 6781 c.6658G>A c.(6658-6660)Ggc>Agc p.G2220S TENM3_ENST00000406950.2_Missense_Mutation_p.G2220S teneurin transmembrane protein 3 TTACAGTAAAGGCAGTGGCTG 0.463000 19 54 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182836128 182836128 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:182836128C>T ENST00000367549.3 + 14 1617 c.1507C>T c.(1507-1509)Cga>Tga p.R503* NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 503 Helicase ATP-binding. 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 AGCAGGCATTCGAGGAATCAG 0.308000 102 154 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71002892 71002892 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:71002892C>G ENST00000334414.6 - 4 980 c.936G>C c.(934-936)agG>agC p.R312S PTPRB_ENST00000261266.5_Missense_Mutation_p.R94S|PTPRB_ENST00000550857.1_Missense_Mutation_p.R94S|PTPRB_ENST00000551525.1_Missense_Mutation_p.R311S|PTPRB_ENST00000550358.1_Missense_Mutation_p.R312S|PTPRB_ENST00000538708.1_Missense_Mutation_p.R94S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R94S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 94 Fibronectin type-III 4. 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) GAGAAATAATCCTGAAGTTAT 0.498000 7 108 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139222 101139222 + Nonsense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:101139222G>A ENST00000372782.3 - 7 1224 c.1177C>T c.(1177-1179)Caa>Taa p.Q393* ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.Q393*|ZMAT1_ENST00000458570.1_Nonsense_Mutation_p.Q222*|ZMAT1_ENST00000494068.1_5'UTR NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 222 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 AGTTCATCTTGGAAAGAATCA 0.428000 89 169 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809020 48809020 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:48809020C>T ENST00000309835.3 + 1 1258 c.1248C>T c.(1246-1248)tcC>tcT p.S416S STON1-GTF2A1L_ENST00000402114.2_Silent_p.S416S|STON1_ENST00000406226.1_Silent_p.S416S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S416S|STON1_ENST00000404752.1_Silent_p.S416S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S416S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S416S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S416S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGAAATTTCCTTGGAAATTG 0.393000 37 199 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361251 70361251 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:70361251G>A ENST00000305107.6 - 1 375 c.329C>T c.(328-330)tCa>tTa p.S110L UGT2B4_ENST00000512583.1_Missense_Mutation_p.S110L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 110 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTGTACTTGTGAAAAATATGA 0.323000 14 18 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360875 70360875 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:70360875G>A ENST00000305107.6 - 1 751 c.705C>T c.(703-705)ttC>ttT p.F235F UGT2B4_ENST00000512583.1_Silent_p.F235F|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.F99F NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 235 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTTCACTGTAGAACTGATCCC 0.328000 29 42 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109968440 109968440 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:109968440G>A ENST00000342494.3 + 26 3494 c.2899G>A c.(2899-2901)Gat>Aat p.D967N UBE3B_ENST00000535089.1_Missense_Mutation_p.D54N|UBE3B_ENST00000434735.2_Missense_Mutation_p.D967N NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 967 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTTCACACCGGATGAGAGAGC 0.428000 42 93 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087944 9087944 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:9087944G>A ENST00000397910.4 - 1 4074 c.3871C>T c.(3871-3873)Cat>Tat p.H1291Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1291 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 GTTGATACATGAATGTGGGTC 0.483000 127 169 0 0 1 0 0 SLC10A6 345274 broad.mit.edu 37 4 87770101 87770101 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:87770101C>T ENST00000273905.6 - 1 315 c.168G>A c.(166-168)cgG>cgA p.R56R SLC10A6_ENST00000505535.1_5'UTR NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 56 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) ACCACAGCTTCCGGATCTCCA 0.547000 11 30 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389947 150389947 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:150389947G>A ENST00000223293.5 + 3 667 c.573G>A c.(571-573)caG>caA p.Q191Q NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 191 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAGCAATCAGGATGACCAAG 0.453000 167 191 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531908 50531908 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:50531908C>T ENST00000374144.3 + 3 1606 c.1318C>T c.(1318-1320)Ccc>Tcc p.P440S C10orf71_ENST00000323868.4_Missense_Mutation_p.P440S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 440 endometrium(1) 1 TTATGATCCCCCCTTTAACAT 0.527000 51 32 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170895116 170895116 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:170895116G>A ENST00000436636.2 - 8 1037 c.694_splice c.e8+1 p.P231_splice TNIK_ENST00000369326.5_Splice_Site_p.P231_splice|TNIK_ENST00000357327.5_Splice_Site_p.P231_splice|TNIK_ENST00000284483.8_Splice_Site_p.P231_splice|TNIK_ENST00000341852.6_Splice_Site_p.P231_splice|TNIK_ENST00000475336.1_Splice_Site_p.P231_splice|TNIK_ENST00000488470.1_Splice_Site_p.P231_splice|TNIK_ENST00000538048.1_Splice_Site_p.P231_splice|TNIK_ENST00000460047.1_Splice_Site_p.P231_splice|TNIK_ENST00000470834.1_Splice_Site_p.P231_splice NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 231 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGTACTTACGGGGAGCACCTT 0.493000 9 16 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248058996 248058996 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:248058996C>T ENST00000537741.1 + 3 365 c.108C>T c.(106-108)ctC>ctT p.L36L OR2W3_ENST00000360358.3_Silent_p.L36L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCGCGTACCTCCTGACCCTCG 0.577000 64 113 0 0 1 0 0 ULBP2 80328 broad.mit.edu 37 6 150266617 150266617 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:150266617C>T ENST00000367351.3 + 2 331 c.258C>T c.(256-258)gcC>gcT p.A86A NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 86 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) TCACAACGGCCTGGAAAGCAC 0.483000 85 196 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516168 140516168 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:140516168C>T ENST00000231134.5 + 1 1369 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 384 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGCTCCATCCAGAATGATC 0.483000 27 62 0 0 1 0 0 FAM217B 63939 broad.mit.edu 37 20 58520058 58520058 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:58520058G>A ENST00000358293.3 + 5 1475 c.1060G>A c.(1060-1062)Gga>Aga p.G354R FAM217B_ENST00000360816.3_Missense_Mutation_p.G354R NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 354 TAGGAAAAAGGGAAAGGCAGA 0.423000 21 126 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187201429 187201429 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:187201429G>A ENST00000264692.4 + 9 1095 c.762G>A c.(760-762)ctG>ctA p.L254L F11_ENST00000403665.2_Silent_p.L306L P03951 FA11_HUMAN coagulation factor XI 306 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GAGAAGAACTGGATATTGTTG 0.488000 98 146 0 0 1 0 0 CTDP1 9150 broad.mit.edu 37 18 77475293 77475293 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:77475293C>T ENST00000299543.7 + 8 1980 c.1833C>T c.(1831-1833)taC>taT p.Y611Y CTDP1_ENST00000075430.7_Silent_p.Y611Y NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 611 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) ATGACCGCTACCTCAACAAGG 0.562000 3 12 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170416995 170416995 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:170416995C>A ENST00000453153.2 - 5 1219 c.873G>T c.(871-873)aaG>aaT p.K291N FASTKD1_ENST00000453929.2_Missense_Mutation_p.K291N NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 291 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 CAGTTAGCTTCTTTTTAGCCA 0.328000 31 268 4.74835e-14 4.88379e-14 1 1 0 C2CD2 25966 broad.mit.edu 37 21 43327234 43327234 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:43327234G>A ENST00000380486.3 - 10 1426 c.1185C>T c.(1183-1185)atC>atT p.I395I C2CD2_ENST00000329623.7_Silent_p.I240I NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 395 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CAGGGGGAGGGATGGGCCAGG 0.527000 13 33 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703727 55703727 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:55703727C>T ENST00000301532.3 - 1 149 c.150G>A c.(148-150)ttG>ttA p.L50L NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 50 L -> S (in dbSNP:rs4367963). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L50L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CAATCCTGATCAACAGCATCA 0.403000 41 78 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49412401 49412401 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:49412401G>A ENST00000299191.3 + 3 408 c.291G>A c.(289-291)agG>agA p.R97R NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 97 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AGAGATTCAGGAAGGACGCCG 0.572000 6 10 0 0 1 0 0 EMCN 51705 broad.mit.edu 37 4 101342518 101342518 + Silent SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:101342518C>A ENST00000296420.4 - 8 763 c.585G>T c.(583-585)gtG>gtT p.V195V EMCN_ENST00000511970.1_Silent_p.V182V|EMCN_ENST00000305864.3_Intron NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin 195 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) AAGCAATAACCACCGGCAAAA 0.393000 19 71 5.03518e-11 5.15287e-11 1 1 0 UNC79 57578 broad.mit.edu 37 14 94063865 94063865 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:94063865C>T ENST00000553484.1 + 24 3505 c.3351C>T c.(3349-3351)acC>acT p.T1117T UNC79_ENST00000555664.1_Silent_p.T1117T|UNC79_ENST00000256339.4_Silent_p.T940T|UNC79_ENST00000393151.2_Silent_p.T1117T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1117 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGCTTGACACCATAAAGAGGC 0.517000 34 28 0 0 1 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405705 106405705 + RNA SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:106405705C>T ENST00000390593.2 - 0 320 GATGGTTATTCGACTTTTCAC 0.493000 101 148 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21309123 21309123 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:21309123G>A ENST00000417816.2 - 3 525 c.172C>T c.(172-174)Ccg>Tcg p.P58S NEBL_ENST00000377159.4_Missense_Mutation_p.P24S NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette 720 RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858). 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 GACTGCTTCGGGTAGTGTCTG 0.413000 38 27 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4683576 4683576 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:4683576G>A ENST00000262960.9 - 19 2521 c.2244C>T c.(2242-2244)atC>atT p.I748I AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Silent_p.I719I|DPP9_ENST00000598800.1_Silent_p.I719I NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 719 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GGCTCAGGTCGATGAAGCCAT 0.632000 27 69 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58538065 58538065 + Silent SNP A A G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:58538065A>G ENST00000083182.3 - 9 1307 c.1020T>C c.(1018-1020)tcT>tcC p.S340S APPBP2_ENST00000592995.1_5'UTR NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 340 S -> C (in Ref. 1; AAC83973). intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) GGTGGACATAAGAAGAGTAGG 0.383000 30 36 0 0 1 0 0 MARCH9 92979 broad.mit.edu 37 12 58152437 58152437 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:58152437G>A ENST00000266643.5 + 4 1229 c.798G>A c.(796-798)aaG>aaA p.K266K MARCH9_ENST00000548358.1_Silent_p.K153K NM_138396.5 NP_612405.2 Q86YJ5 MARH9_HUMAN membrane-associated ring finger (C3HC4) 9 266 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) ATTATGACAAGACCAAGGACA 0.607000 25 27 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283600 152283600 + Silent SNP C C T rs138551548 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:152283600C>T ENST00000368799.1 - 3 3797 c.3762G>A c.(3760-3762)caG>caA p.Q1254Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1254 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGATTGTTCCTGTCCCACCT 0.562000 Ichthyosis 81 354 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23907707 23907707 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:23907707G>A ENST00000382298.3 - 10 10896 c.10308C>T c.(10306-10308)atC>atT p.I3436I SACS_ENST00000382292.3_Silent_p.I3436I|SACS_ENST00000402364.1_Silent_p.I2686I NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3436 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAGCTGAAGGGATACTTTTTG 0.358000 12 125 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39408669 39408669 + Missense_Mutation SNP G G C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:39408669G>C ENST00000257408.4 + 1 197 c.100G>C c.(100-102)Gga>Cga p.G34R NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 34 carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GTCCAACGGGGGATTGCAAAG 0.438000 23 80 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44555533 44555533 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:44555533G>A ENST00000289547.4 - 19 3801 c.3746C>T c.(3745-3747)cCt>cTt p.P1249L NPC1L1_ENST00000546276.1_Missense_Mutation_p.P1176L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P1222L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1249 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AAGGATGCCAGGCAGGTTGGT 0.622000 34 37 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142691824 142691824 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:142691824C>T ENST00000230173.6 + 4 1439 c.963C>T c.(961-963)atC>atT p.I321I GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Silent_p.I321I|GPR126_ENST00000296932.8_Silent_p.I321I|GPR126_ENST00000367608.2_Silent_p.I321I NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 321 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) ATGCCAAAATCCTCTCCAACC 0.393000 46 215 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238898 48238898 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:48238898C>T ENST00000309562.2 + 1 555 c.537C>T c.(535-537)ctC>ctT p.L179L NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TCTGTGACCTCCAGCCTTTAT 0.478000 70 136 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157506 22157506 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:22157506A>T ENST00000397126.4 - 4 478 c.330T>A c.(328-330)aaT>aaA p.N110K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTAAGTGTAAATTCTCATGTC 0.353000 7 91 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415480 10415480 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:10415480G>A ENST00000226207.5 - 13 1271 c.1177C>T c.(1177-1179)Ctg>Ttg p.L393L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 393 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCAGAGTTCAGATTTTGGAGA 0.468000 61 191 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123343991 123343991 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:123343991C>T ENST00000253083.4 + 23 2439 c.2314C>T c.(2314-2316)Cta>Tta p.L772L NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 772 I/LWEQ. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) ACCCAAGAGCCTAGATGTGCG 0.637000 21 61 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724371 38724371 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:38724371C>A ENST00000342213.2 - 1 1203 c.857G>T c.(856-858)tGt>tTt p.C286F NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 286 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) ACTGGTCACACAAGAGCGGCC 0.667000 5 140 0.000602214 0.000607167 1 1 0 CIT 11113 broad.mit.edu 37 12 120241108 120241108 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:120241108G>A ENST00000392521.2 - 10 1252 c.1197C>T c.(1195-1197)tcC>tcT p.S399S CIT_ENST00000261833.7_Silent_p.S399S NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 399 AGC-kinase C-terminal. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GGCACGGAGAGGATGAAACCC 0.517000 52 89 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21033868 21033868 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:21033868G>A ENST00000381545.3 + 12 1630 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.E471K|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E471K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E471K NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 471 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AAGTCAGTGGGAACCAGTCTG 0.368000 91 153 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670881 186670881 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:186670881G>A ENST00000343098.5 + 17 17115 c.17115G>A c.(17113-17115)agG>agA p.R5705R FSIP2_ENST00000424728.1_Silent_p.R5616R NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACAATGCAAGGGAAAGCTCAT 0.328000 49 170 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953239 140953239 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:140953239G>A ENST00000253811.6 - 16 2318 c.2178C>T c.(2176-2178)atC>atT p.I726I DIAPH1_ENST00000389057.5_Silent_p.I717I|DIAPH1_ENST00000398557.4_Silent_p.I726I|DIAPH1_ENST00000520569.1_Silent_p.I672I|DIAPH1_ENST00000518047.1_Silent_p.I717I|DIAPH1_ENST00000398562.2_Silent_p.I705I|DIAPH1_ENST00000398566.3_Silent_p.I717I|DIAPH1_ENST00000389054.3_Silent_p.I726I O60610 DIAP1_HUMAN diaphanous-related formin 1 726 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTGGAGGGATTCCAGGAC 0.617000 19 10 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47739512 47739512 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:47739512G>A ENST00000406134.1 + 16 2767 c.2705G>A c.(2704-2706)gGa>gAa p.G902E MSH2_ENST00000461394.1_3'UTR P43246 MSH2_HUMAN mutS homolog 2 0 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTTCGTGGGGGAAAGAGATCT 0.483000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 18 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704047 60704047 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:60704047C>T ENST00000005286.4 + 11 2896 c.2743C>T c.(2743-2745)Cct>Tct p.P915S TMEM132A_ENST00000453848.2_Missense_Mutation_p.P914S NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 914 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGGCAGTCCCCTGGCCCGCC 0.726000 13 32 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462417 5462417 + Missense_Mutation SNP C C A rs112191372 byFrequency TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:5462417C>A ENST00000345221.3 - 4 2153 c.1599G>T c.(1597-1599)caG>caT p.Q533H NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.Q533H|NLRP1_ENST00000262467.5_Missense_Mutation_p.Q533H|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q533H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q533H|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q533H NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 533 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TCCGCTTCATCTGCTGCATCA 0.537000 5 143 1.23904e-05 1.25335e-05 1 1 0 ARSJ 79642 broad.mit.edu 37 4 114823829 114823829 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:114823829G>A ENST00000315366.7 - 2 2267 c.1401C>T c.(1399-1401)gtC>gtT p.V467V ARSJ_ENST00000541197.1_Silent_p.V467V NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 467 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) ACTGAGGGGGGACCCAGTCGC 0.537000 54 61 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54280841 54280841 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:54280841T>C ENST00000507166.1 + 11 875 c.875T>C c.(874-876)gTt>gCt p.V292A FIP1L1_ENST00000358575.5_Missense_Mutation_p.V277A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.V277A|FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000337488.6_Missense_Mutation_p.V292A Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 292 Necessary for stimulating PAPOLA activity. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) AATTCAAGCGTTGGGAAGTGG 0.398000 T PDGFRA idiopathic hypereosinophilic syndrome 15 54 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98501098 98501098 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:98501098C>T ENST00000359863.4 + 12 1203 c.994C>T c.(994-996)Ctg>Ttg p.L332L TRRAP_ENST00000355540.3_Silent_p.L332L|TRRAP_ENST00000446306.3_Silent_p.L332L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 332 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAAGGAGCTTCTGATTGCTGC 0.488000 150 134 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69096520 69096520 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:69096520C>T ENST00000543976.1 - 2 1582 c.1336G>A c.(1336-1338)Gat>Aat p.D446N CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D446N|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 446 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TTGCAAACATCTTCCTTCTCA 0.373000 89 151 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113323 117113323 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:117113323T>G ENST00000310357.3 - 6 2784 c.2763A>C c.(2761-2763)aaA>aaC p.K921N GPRC6A_ENST00000530250.1_Missense_Mutation_p.K746N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.K850N NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 921 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTGACATTCTTTTTCGAGGCA 0.388000 45 173 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223567158 223567158 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:223567158G>A ENST00000366875.3 + 1 444 c.341G>A c.(340-342)gGa>gAa p.G114E NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 114 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GGAGAGACAGGAACCAAGCCC 0.726000 5 4 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2024798 2024798 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:2024798C>T ENST00000568546.1 + 6 542 c.414C>T c.(412-414)atC>atT p.I138I NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 138 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 TCTGGGACATCGTGCGGCACT 0.667000 40 43 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3116410 3116410 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr18:3116410G>A ENST00000400569.3 - 21 3555 c.3222C>T c.(3220-3222)ttC>ttT p.F1074F MYOM1_ENST00000261606.7_Silent_p.F978F|MYOM1_ENST00000356443.4_Silent_p.F1074F P52179 MYOM1_HUMAN myomesin 1 1074 Fibronectin type-III 5. 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 TCAAGTCCACGAAGTAACCAG 0.547000 10 25 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33746014 33746014 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:33746014C>T ENST00000539719.1 + 5 809 c.639C>T c.(637-639)ccC>ccT p.P213P ZNF362_ENST00000373428.5_Silent_p.P213P NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCCCCTATCCCATCCTGGCCT 0.677000 6 17 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A C rs121913377 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:140453136A>C ENST00000288602.6 - 15 1859 c.1799T>G c.(1798-1800)gTg>gGg p.V600G 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 102 172 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65233411 65233411 + Nonsense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:65233411C>T ENST00000542895.1 - 32 6474 c.6378G>A c.(6376-6378)tgG>tgA p.W2126* SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Nonsense_Mutation_p.W2126*|SPTB_ENST00000389722.3_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2126 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) GCAGTGACTCCCAGGAACTAG 0.642000 101 147 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017372 93017372 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:93017372C>T ENST00000523629.1 - 6 1166 c.712G>A c.(712-714)Gaa>Aaa p.E238K RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K 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) 238 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E238K(1)|p.E201K(1) 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) TTCCCGTTTTCGTTCACATCG 0.542000 18 81 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684183 41684183 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:41684183G>A ENST00000400454.1 - 9 2364 c.1887C>T c.(1885-1887)acC>acT p.T629T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 629 Ig-like C2-type 7. 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) CCTTCTGCCAGGTGATCGTGA 0.532000 22 40 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794585 55794585 + Silent SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:55794585C>A ENST00000379665.2 + 1 372 c.273C>A c.(271-273)tcC>tcA p.S91S NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 CAACCATTTCCTATAATGCTT 0.353000 58 107 1.44317e-28 1.50197e-28 1 1 0 SCG3 29106 broad.mit.edu 37 15 52005530 52005530 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:52005530G>A ENST00000220478.3 + 11 1611 c.1207_splice c.e11-1 p.G403_splice RP11-313P18.1_ENST00000557891.1_RNA|SCG3_ENST00000542355.2_Splice_Site_p.G171_splice NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 403 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) CCTCTTCCAGGAAAAACAGAA 0.348000 44 46 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771437 143771437 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:143771437G>A ENST00000408898.2 + 1 163 c.125G>A c.(124-126)gGg>gAg p.G42E NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TTGGGGAACGGGACAATCCTG 0.547000 89 124 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1712823 1712823 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:1712823C>T ENST00000397412.3 + 13 2756 c.2657C>T c.(2656-2658)cCa>cTa p.P886L LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P883L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P886L|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P264L Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 886 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CTGCGGAAGCCACTGGTGGTC 0.597000 14 32 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72827432 72827432 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:72827432G>A ENST00000268489.5 - 9 9821 c.9149C>T c.(9148-9150)tCc>tTc p.S3050F ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2136F NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3050 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTTAACTTTGGAGATATGCTG 0.488000 51 133 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290507 132290507 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:132290507C>T ENST00000295171.6 + 6 1085 c.947C>T c.(946-948)cCc>cTc p.P316L CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P250L NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 316 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GCTAGCTTTCCCAGGTGAGTG 0.647000 32 85 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060437 111060437 + Nonsense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:111060437G>A ENST00000369771.2 - 1 1360 c.973C>T c.(973-975)Cag>Tag p.Q325* NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 325 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TCTGTCTCCTGGACTAGCTCT 0.532000 82 154 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83451626 83451626 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:83451626C>T ENST00000334574.8 - 4 1068 c.887G>A c.(886-888)gGa>gAa p.G296E FSD2_ENST00000541889.1_Missense_Mutation_p.G296E A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 296 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TAGGTTTTCTCCACAGCTGAC 0.388000 131 276 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259790 71259790 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:71259790G>A ENST00000528743.2 + 1 325 c.87G>A c.(85-87)agG>agA p.R29R NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 29 epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 CTGGCTGCAGGGGCTGTGGCC 0.647000 34 181 0 0 1 0 0 NDE1 54820 broad.mit.edu 37 16 15788051 15788051 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:15788051C>T ENST00000396355.1 + 8 1559 c.733C>T c.(733-735)Ctc>Ttc p.L245F NDE1_ENST00000396354.1_Missense_Mutation_p.L245F|NDE1_ENST00000342673.5_Missense_Mutation_p.L245F|NDE1_ENST00000396353.2_Missense_Mutation_p.L245F NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 245 Interaction with CENPF (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 GGGGACCCCCCTCACACCTGC 0.572000 8 34 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397238 51397238 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:51397238G>A ENST00000327536.5 - 1 235 c.136C>T c.(136-138)Ccc>Tcc p.P46S RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 46 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AAAGATAAGGGGATGAGTCTT 0.532000 83 54 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30128423 30128423 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:30128423G>A ENST00000449742.2 - 1 288 c.213C>T c.(211-213)ccC>ccT p.P71P TRIM10_ENST00000376704.3_Silent_p.P71P NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 71 cytoplasm zinc ion binding p.P71P(1) ovary(1) 1 GCTGCCAGTTGGGCCGGAAGC 0.602000 106 178 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139189622 139189622 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:139189622T>G ENST00000395297.1 - 11 1241 c.1071A>C c.(1069-1071)caA>caC p.Q357H NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 357 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) CTGCAAGTTTTTGGTGCTCCA 0.418000 HNSCC(54;0.14) 8 46 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271556 59271556 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:59271556G>A ENST00000313253.1 + 1 508 c.508G>A c.(508-510)Gga>Aga p.G170R NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G170R(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CCCTTTCTGTGGACCCAATGT 0.512000 125 179 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46708195 46708195 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr22:46708195C>T ENST00000454366.1 + 5 1132 c.920C>T c.(919-921)cCa>cTa p.P307L NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 288 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) ATCCCTGTTCCAAACAAGGTG 0.582000 20 29 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917685 4917685 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:4917685G>A ENST00000399583.3 - 2 273 c.86C>T c.(85-87)tCc>tTc p.S29F RADIL_ENST00000536091.1_Missense_Mutation_p.S29F NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 29 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CAGCGTCCGGGACAGCATGCT 0.627000 9 15 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12630862 12630862 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:12630862C>T ENST00000228862.2 - 7 1534 c.903G>A c.(901-903)caG>caA p.Q301Q DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 301 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) ATGCTCCAGTCTGGTTCTTAA 0.468000 74 119 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26788241 26788241 + Nonsense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:26788241A>T ENST00000381588.4 - 5 2530 c.1778T>A c.(1777-1779)tTa>tAa p.L593* RNF6_ENST00000399762.2_Nonsense_Mutation_p.L237*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.L593*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.L593* NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 593 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TTCATTTAGTAAAAAAAAGTG 0.403000 97 89 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327203 150327203 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:150327203G>A ENST00000328902.5 - 2 244 c.28C>T c.(28-30)Ccc>Tcc p.P10S GIMAP6_ENST00000493969.1_Missense_Mutation_p.P10S NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 10 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTCCTGGGGAATTTGTTCA 0.428000 21 323 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55525941 55525941 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:55525941G>A ENST00000310373.3 - 8 1399 c.1372C>T c.(1372-1374)Cca>Tca p.P458S CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 76 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) CTGAGAGCTGGGAACCTTAGA 0.527000 21 71 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74684327 74684327 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:74684327G>A ENST00000334011.5 + 7 1510 c.1292G>A c.(1291-1293)aGc>aAc p.S431N NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 431 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GGCTTGGAAAGCTTGGTGGAG 0.562000 39 22 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614532 247614532 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:247614532G>A ENST00000318749.6 - 1 776 c.753C>T c.(751-753)atC>atT p.I251I NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I251I(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGAGGGAGACGATCATCAGGT 0.512000 56 104 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103128437 103128437 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:103128437C>T ENST00000375735.2 + 69 10706 c.10562C>T c.(10561-10563)gCt>gTt p.A3521V DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3528V|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3521 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTTAGTTTGGCTGCTTTTCTC 0.428000 13 18 0 0 1 0 0 PSORS1C1 170679 broad.mit.edu 37 6 31107451 31107451 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:31107451G>A ENST00000259881.9 + 6 490 c.201G>A c.(199-201)aaG>aaA p.K67K PSORS1C1_ENST00000547221.1_Silent_p.K19K|PSORS1C1_ENST00000481450.2_Silent_p.K4K NM_014068.2 NP_054787.2 Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 67 kidney(1)|ovary(2)|prostate(1)|skin(1) 5 TGATATCCAAGGAATTCCATC 0.552000 15 33 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963502 148963502 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:148963502C>T ENST00000434415.1 + 2 264 c.101C>T c.(100-102)tCg>tTg p.S34L NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 34 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GAGAAGAACTCGTACCTCTAC 0.567000 22 25 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119229727 119229727 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:119229727G>A ENST00000296498.3 - 8 1777 c.1495C>T c.(1495-1497)Cct>Tct p.P499S NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 499 membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AGTCTGACAGGAAAACCTAAG 0.383000 67 60 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368758 20368758 + RNA SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:20368758C>T ENST00000593655.1 - 0 199 gcagccccttcctcaaggact 0.453000 2 6 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151475094 151475094 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:151475094T>G ENST00000356517.3 + 5 1027 c.918T>G c.(916-918)agT>agG p.S306R RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 306 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GAGGACTTAGTTATTCATTGC 0.368000 49 242 0 0 1 0 0 EDEM3 80267 broad.mit.edu 37 1 184692900 184692900 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:184692900C>G ENST00000318130.8 - 8 1104 c.838G>C c.(838-840)Gat>Cat p.D280H EDEM3_ENST00000367512.3_Missense_Mutation_p.D237H NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 280 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CGTACCCAATCTCCAGTATGA 0.328000 33 164 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3664331 3664331 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:3664331C>T ENST00000263087.4 - 6 672 c.574G>A c.(574-576)Gaa>Aaa p.E192K NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 192 Glu-rich (acidic).|X-domain (extra domain). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) tcctcgtcttcctcctcctcc 0.582000 72 42 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422059 53422059 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:53422059G>A ENST00000377942.3 - 1 716 c.513C>T c.(511-513)acC>acT p.T171T PCDH8_ENST00000338862.4_Silent_p.T171T NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 171 Cadherin 2. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCAGGCGCACGGTCTGCAGCC 0.716000 3 9 0 0 1 0 0 DOLPP1 57171 broad.mit.edu 37 9 131847525 131847525 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:131847525C>T ENST00000372546.4 + 4 334 c.302C>T c.(301-303)tCc>tTc p.S101F DOLPP1_ENST00000540102.1_Missense_Mutation_p.S3F|DOLPP1_ENST00000406974.3_Missense_Mutation_p.S101F NM_020438.4 NP_065171.2 Q86YN1 DOPP1_HUMAN dolichyldiphosphatase 1 101 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity endometrium(3)|kidney(2)|lung(7)|skin(1) 13 GGGATGCCCTCCAGCCATTCC 0.572000 29 121 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373294 86373294 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:86373294C>T ENST00000604798.1 - 8 2414 c.1210G>A c.(1210-1212)Gat>Aat p.D404N MGAT4C_ENST00000393205.2_Missense_Mutation_p.D433N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D404N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D404N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D404N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D404N Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 404 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGCAAAATATCATTTTGCCGA 0.328000 35 75 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203817287 203817287 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:203817287C>T ENST00000320443.8 + 5 1355 c.312C>T c.(310-312)atC>atT p.I104I WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545262.1_Silent_p.I28I|CARF_ENST00000456821.2_Silent_p.I92I|CARF_ENST00000402905.2_Silent_p.I104I|CARF_ENST00000434998.1_Silent_p.I2I|CARF_ENST00000444724.1_Silent_p.I104I|CARF_ENST00000438828.2_Silent_p.I104I|CARF_ENST00000414439.1_Silent_p.I2I|CARF_ENST00000428585.1_Silent_p.I28I|CARF_ENST00000545253.1_Silent_p.I16I calcium responsive transcription factor CCAAGATGATCGTTGCCAGCC 0.358000 58 49 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956685 143956685 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:143956685C>T ENST00000292427.4 - 7 1197 c.1165G>A c.(1165-1167)Gac>Aac p.D389N CYP11B1_ENST00000517471.1_Missense_Mutation_p.D389N|CYP11B1_ENST00000377675.3_Missense_Mutation_p.D460N NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 389 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) AGCACCAAGTCTGAGCTCGCC 0.612000 Familial Hyperaldosteronism type I 7 26 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133467306 133467306 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:133467306G>A ENST00000402696.3 + 2 579 c.94G>A c.(94-96)Gag>Aag p.E32K TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 32 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGCAGTGTCGGAGCATGAGGC 0.557000 15 64 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26949237 26949237 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:26949237T>G ENST00000539517.2 - 3 710 c.393A>C c.(391-393)gaA>gaC p.E131D NOVA1_ENST00000574031.1_Missense_Mutation_p.E131D|NOVA1_ENST00000465357.2_Missense_Mutation_p.E131D|NOVA1_ENST00000344429.5_Missense_Mutation_p.E131D|NOVA1_ENST00000267422.7_Missense_Mutation_p.E9D|NOVA1_ENST00000547619.1_Missense_Mutation_p.E131D NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 134 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.E131E(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGCTGACTGGTTCTGTCTTGG 0.433000 24 196 0 0 1 0 0 ELF5 2001 broad.mit.edu 37 11 34533114 34533114 + Translation_Start_Site SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:34533114C>T ENST00000312319.2 - 1 232 c.3G>A c.(1-3)atG>atA p.M1I ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Intron|ELF5_ENST00000528709.1_5'UTR|ELF5_ENST00000257832.2_Intron NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 1 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) GCAGAGATGGCATGGAAGCTG 0.537000 17 46 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1083051 1083051 + Silent SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:1083051G>T ENST00000313093.2 + 20 2961 c.2730G>T c.(2728-2730)ctG>ctT p.L910L HMHA1_ENST00000543365.1_Silent_p.L793L|HMHA1_ENST00000590577.1_Silent_p.L545L|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590214.1_Silent_p.L937L|HMHA1_ENST00000539243.2_Silent_p.L926L|HMHA1_ENST00000536472.1_Silent_p.L778L|HMHA1_ENST00000586866.1_Silent_p.L914L NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 910 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGTACCTGCTGCGTCACCTAC 0.726000 2 5 1 1 1 1 0 PXDN 7837 broad.mit.edu 37 2 1652184 1652184 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:1652184C>T ENST00000252804.4 - 17 3418 c.3368G>A c.(3367-3369)gGg>gAg p.G1123E NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1123 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCCCGCCACCCCGAACAGCCC 0.617000 8 60 0 0 1 0 0 LOC643711 643711 broad.mit.edu 37 12 98127082 98127082 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:98127082G>A ENST00000550548.1 - 0 176 NR_077240.1 AGGCCTTACAGGGTTGCAGCA 0.577000 2 3 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13910346 13910346 + Missense_Mutation SNP C C T rs113350533 byFrequency TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:13910346C>T ENST00000294489.6 + 1 387 c.46C>T c.(46-48)Cgg>Tgg p.R16W PDPN_ENST00000376057.4_Missense_Mutation_p.R16W Q86YL7 PDPN_HUMAN podoplanin 0 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) GTTTGCTGTCCGGCTGCCTAG 0.687000 4 76 0 0 1 0 0 DET1 55070 broad.mit.edu 37 15 89070876 89070876 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:89070876G>A ENST00000564406.1 - 4 1418 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S DET1_ENST00000444300.1_Missense_Mutation_p.P420S|DET1_ENST00000268148.8_Missense_Mutation_p.P409S NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 409 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GCTGAGCAGGGAAACTGAACT 0.438000 22 46 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264265 67264265 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:67264265C>T ENST00000258201.4 - 19 3250 c.3003G>A c.(3001-3003)caG>caA p.Q1001Q FHOD1_ENST00000567687.1_Silent_p.Q580Q NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1001 FH2.|Poly-Gln. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GGTATGTGGCCTGCTTCTGCT 0.587000 23 53 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121429346 121429346 + Missense_Mutation SNP C C T rs148966249 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:121429346C>T ENST00000260197.7 + 20 2839 c.2710C>T c.(2710-2712)Cgg>Tgg p.R904W NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 904 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) TGGGATTTATCGGAGCAATAT 0.507000 84 74 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518128 108518128 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:108518128G>A ENST00000375915.2 - 1 955 c.817C>T c.(817-819)Cac>Tac p.H273Y NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 273 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TGAGCATGGTGGTCATAGTCC 0.507000 58 44 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102626047 102626047 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:102626047C>T ENST00000332549.3 + 3 320 c.91C>T c.(91-93)Cgt>Tgt p.R31C IL1R2_ENST00000393414.2_Missense_Mutation_p.R31C|IL1R2_ENST00000441002.1_Missense_Mutation_p.R31C NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 31 Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) CTGCCGGTTTCGTGGGAGGCA 0.612000 70 235 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240969463 240969463 + Silent SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:240969463G>T ENST00000366565.1 - 15 1627 c.1246C>A c.(1246-1248)Cga>Aga p.R416R RGS7_ENST00000401882.1_Silent_p.R363R|RGS7_ENST00000366563.1_Silent_p.R416R|RGS7_ENST00000407727.1_Silent_p.R416R|RGS7_ENST00000348120.2_Silent_p.R363R|RGS7_ENST00000331110.7_Silent_p.R390R|RGS7_ENST00000366562.4_Silent_p.R416R|RGS7_ENST00000366564.1_Silent_p.R416R|RGS7_ENST00000446183.2_Silent_p.R332R NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 416 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AATGTGTATCGTCCAGGTTCC 0.458000 47 99 2.84144e-21 2.93727e-21 1 1 0 PIH1D3 139212 broad.mit.edu 37 X 106462146 106462146 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chrX:106462146G>A ENST00000535523.1 + 5 616 c.279G>A c.(277-279)gaG>gaA p.E93E PIH1D3_ENST00000336387.4_Silent_p.E93E|PIH1D3_ENST00000372453.3_Silent_p.E93E NM_001169154.1 NP_001162625.1 PIH1 domain containing 3 ATTCAGAAGAGATTCCAGAAG 0.403000 24 10 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691548 31691548 + Nonsense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:31691548G>A ENST00000375809.3 + 2 205 c.194G>A c.(193-195)tGg>tAg p.W65* C6orf25_ENST00000375805.2_Nonsense_Mutation_p.W65*|C6orf25_ENST00000375810.4_Nonsense_Mutation_p.W65*|C6orf25_ENST00000480039.1_Nonsense_Mutation_p.W65* NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 65 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 CCGATCCTGTGGGCCTCTTCG 0.672000 41 71 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449594 85449594 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:85449594G>A ENST00000393217.2 + 8 1084 c.1023G>A c.(1021-1023)gaG>gaA p.E341E NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 341 Glu-rich. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) gattagaggaggaacaaagga 0.328000 10 24 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139299046 139299046 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:139299046G>A ENST00000406875.3 - 8 2070 c.1976C>T c.(1975-1977)cCc>cTc p.P659L HIPK2_ENST00000428878.2_Missense_Mutation_p.P632L|HIPK2_ENST00000342645.6_Missense_Mutation_p.P659L NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 659 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GAAGCCGGGGGGACACACGAT 0.612000 11 27 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664832 124664832 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:124664832G>A ENST00000325995.7 - 1 358 c.335C>T c.(334-336)tCc>tTc p.S112F CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 112 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CTGTAGCATGGAGGCGGCCTC 0.577000 5 34 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71928964 71928964 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:71928964C>T ENST00000266674.5 + 4 737 c.426C>T c.(424-426)tcC>tcT p.S142S LGR5_ENST00000536515.1_Silent_p.S142S|LGR5_ENST00000540815.2_Silent_p.S142S O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 142 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GCCTTCAATCCCTGTAAGTAT 0.353000 26 103 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40778281 40778281 + Splice_Site SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:40778281C>T ENST00000372748.3 - 6 400 c.303_splice c.e6-1 p.G102_splice NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 102 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCGGGCTGGCCCTGCAGAAGC 0.632000 9 33 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46107841 46107841 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:46107841C>T ENST00000321037.4 + 2 751 c.521C>T c.(520-522)tCg>tTg p.S174L NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 174 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CTAAACAATTCGAACCCACCA 0.393000 90 118 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112319689 112319689 + Silent SNP C C T rs148478583 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:112319689C>T ENST00000369697.1 - 5 1737 c.1668G>A c.(1666-1668)acG>acA p.T556T KCND3_ENST00000315987.2_Silent_p.T575T|KCND3_ENST00000302127.4_Silent_p.T556T Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 575 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGATGTGGATCGTGCTGAGCT 0.567000 32 50 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138646971 138646971 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:138646971C>T ENST00000298480.5 + 6 570 c.496C>T c.(496-498)Cct>Tct p.P166S KCNT1_ENST00000488444.2_Missense_Mutation_p.P147S|KCNT1_ENST00000487664.1_Missense_Mutation_p.P118S|KCNT1_ENST00000486577.2_Missense_Mutation_p.P127S|KCNT1_ENST00000371757.2_Missense_Mutation_p.P166S|KCNT1_ENST00000491806.2_Missense_Mutation_p.P133S|KCNT1_ENST00000490355.2_Missense_Mutation_p.P147S|KCNT1_ENST00000263604.3_Missense_Mutation_p.P147S B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 166 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCCCAGGGCTCCTATTCTGTG 0.617000 25 15 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58139325 58139325 + Silent SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:58139325G>T ENST00000295956.4 + 39 6756 c.6591G>T c.(6589-6591)cgG>cgT p.R2197R FLNB_ENST00000358537.3_Silent_p.R2173R|FLNB_ENST00000493452.1_Silent_p.R2004R|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Silent_p.R2228R|FLNB_ENST00000348383.5_Silent_p.R2156R|FLNB_ENST00000429972.2_Silent_p.R2186R|FLNB_ENST00000419752.2_Silent_p.R2017R NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2197 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACAAGGTGCGGGCAGGAGGCC 0.632000 12 36 3.07112e-06 3.11173e-06 1 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20493760 20493760 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:20493760A>T ENST00000202677.6 - 32 4395 c.4253T>A c.(4252-4254)tTt>tAt p.F1418Y NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1418 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GAACACCTCAAAGGACAGCTC 0.552000 19 43 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83332714 83332714 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:83332714C>T ENST00000261722.3 - 19 2425 c.2218G>A c.(2218-2220)Gag>Aag p.E740K AP3B2_ENST00000535359.1_Missense_Mutation_p.E759K|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E708K NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 740 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TTACCATCCTCCTCACTCTGT 0.522000 15 27 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56230836 56230836 + Missense_Mutation SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:56230836G>T ENST00000394182.1 - 4 652 c.653C>A c.(652-654)aCc>aAc p.T218N MMP19_ENST00000548629.1_Missense_Mutation_p.T481N|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.T504N Q99542 MMP19_HUMAN matrix metallopeptidase 19 504 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 TTCAAACGTGGTTTCTGTGGC 0.537000 105 185 6.13486e-44 6.40659e-44 1 1 0 CFAP221 200373 broad.mit.edu 37 2 120362534 120362534 + Missense_Mutation SNP G G A rs141477875 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:120362534G>A ENST00000602047.1 + 11 1249 c.137G>A c.(136-138)gGa>gAa p.G46E PCDP1_ENST00000413369.3_Missense_Mutation_p.G332E|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 332 cilium calmodulin binding Colorectal(110;0.196) CAAGAACCAGGAAAATTGAAG 0.383000 68 189 0 0 1 0 0 ACKR4 51554 broad.mit.edu 37 3 132320179 132320179 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:132320179A>T ENST00000249887.2 + 2 1034 c.938A>T c.(937-939)tAc>tTc p.Y313F ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 TTCAAAAACTACGTTATGAAA 0.458000 41 117 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172327 47172327 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:47172327C>T ENST00000447411.1 - 10 1156 c.950G>A c.(949-951)aGt>aAt p.S317N SLC38A4_ENST00000266579.4_Missense_Mutation_p.S317N NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 317 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) CTTGTCATCACTATGAGCTTC 0.448000 37 85 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158483117 158483117 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:158483117G>A ENST00000355585.4 + 8 1123 c.1048G>A c.(1048-1050)Gag>Aag p.E350K SYNJ2_ENST00000449859.2_Missense_Mutation_p.E278K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E350K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E350K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 350 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AGAGAAATTGGAGACCCTCTT 0.527000 54 189 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124179843 124179843 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:124179843A>T ENST00000357821.2 - 1 890 c.820T>A c.(820-822)Tcc>Acc p.S274T NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AACACAGAGGACACCTTCTCC 0.463000 7 97 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47298378 47298378 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:47298378C>T ENST00000342922.4 + 5 1416 c.1059C>T c.(1057-1059)atC>atT p.I353I MADD_ENST00000402799.1_Silent_p.I353I|MADD_ENST00000402192.2_Silent_p.I353I|MADD_ENST00000407859.3_Silent_p.I353I|MADD_ENST00000406482.1_Silent_p.I353I|MADD_ENST00000395336.3_Silent_p.I353I|MADD_ENST00000395344.3_Silent_p.I353I|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000349238.3_Silent_p.I353I|MADD_ENST00000311027.5_Silent_p.I353I NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 353 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TTCCTGTCATCCCGCTGCTAC 0.537000 47 66 0 0 1 0 0 POLG2 11232 broad.mit.edu 37 17 62492804 62492804 + Missense_Mutation SNP A A G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:62492804A>G ENST00000539111.2 - 1 350 c.283T>C c.(283-285)Tgc>Cgc p.C95R NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 95 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) CCGGGGTGGCACCCACTCAGA 0.587000 44 59 0 0 1 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122497 153122497 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:153122497C>T ENST00000368748.4 - 2 128 c.90G>A c.(88-90)ccG>ccA p.P30P NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 30 3 X 9 AA approximate tandem repeats. keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGGCACTTCGGGGGTGGAC 0.607000 46 89 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3688605 3688605 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:3688605G>A ENST00000250699.2 - 4 823 c.752C>T c.(751-753)tCg>tTg p.S251L CHRNA10_ENST00000534359.1_Missense_Mutation_p.R69C NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 251 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CGCAAGCAGCGAGATGAGCAC 0.692000 6 13 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475351 50475351 + RNA SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:50475351C>T ENST00000602139.1 + 0 1297 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TCAGCTTCTCCGTGCACTGTG 0.672000 21 50 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57751598 57751598 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:57751598C>T ENST00000274289.3 - 11 1693 c.1393G>A c.(1393-1395)Gac>Aac p.D465N PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 465 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ATGGTACTGTCTTCAAGGCCT 0.428000 52 34 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31927896 31927896 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:31927896G>A ENST00000375394.2 + 3 349 c.236_splice c.e3+1 p.R79_splice SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 79 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CACTCAGCCCGGTGAGGAGTC 0.547000 35 57 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234106997 234106997 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:234106997C>T ENST00000359570.5 + 27 2914 c.2914C>T c.(2914-2916)Ctc>Ttc p.L972F INPP5D_ENST00000455936.2_Missense_Mutation_p.L736F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L736F Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 984 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AAACCGGGGTCTCCCTCCCAG 0.597000 14 17 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27423405 27423405 + Missense_Mutation SNP T T G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:27423405T>G ENST00000358918.3 - 5 772 c.573A>C c.(571-573)gaA>gaC p.E191D APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.E191D|APP_ENST00000357903.3_Missense_Mutation_p.E191D|APP_ENST00000354192.3_Missense_Mutation_p.E135D|APP_ENST00000348990.5_Missense_Mutation_p.E191D|APP_ENST00000448388.2_Missense_Mutation_p.E156D|APP_ENST00000346798.3_Missense_Mutation_p.E191D|APP_ENST00000440126.3_Missense_Mutation_p.E186D|APP_ENST00000439274.2_Missense_Mutation_p.E135D NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 191 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) TGTCACTTTCTTCAGCCAGTG 0.542000 12 56 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053853 11053853 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:11053853C>T ENST00000295082.1 + 1 1791 c.1301C>T c.(1300-1302)tCc>tTc p.S434F NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 434 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GAACTCAACTCCAGCAGCGGG 0.652000 40 42 0 0 1 0 0 LMO2 4005 broad.mit.edu 37 11 33881075 33881075 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:33881075G>A ENST00000257818.2 - 6 1340 c.511C>T c.(511-513)Cgt>Tgt p.R171C LMO2_ENST00000395833.3_Missense_Mutation_p.R102C NM_005574.3 NP_005565.2 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 102 multicellular organismal development nucleus protein binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 TCATAGGCACGAATCCGCTTG 0.478000 T TRD@ T-ALL 33 77 0 0 1 0 0 DPH2 1802 broad.mit.edu 37 1 44435929 44435929 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:44435929G>A ENST00000255108.3 + 1 254 c.82G>A c.(82-84)Gac>Aac p.D28N DPH2_ENST00000396758.2_Missense_Mutation_p.D28N|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 28 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) TCCTCTTCCGGACCTGGACGG 0.627000 36 79 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18151073 18151073 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:18151073C>T ENST00000327031.4 - 20 2610 c.2385G>A c.(2383-2385)ctG>ctA p.L795L FLII_ENST00000379450.4_Silent_p.L709L|FLII_ENST00000579294.1_Silent_p.L784L|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.L740L NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 795 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) CAGCGCGCACCAGGCGCGGGG 0.697000 21 22 0 0 1 0 0 GART 2618 broad.mit.edu 37 21 34901164 34901164 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:34901164G>A ENST00000381831.3 - 8 1066 c.803C>T c.(802-804)cCa>cTa p.P268L GART_ENST00000381815.4_Missense_Mutation_p.P268L|GART_ENST00000381839.3_Missense_Mutation_p.P268L|GART_ENST00000361093.5_Missense_Mutation_p.P268L NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 268 ATP-grasp. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) ACCTGTATATGGAGTACCCTC 0.368000 21 54 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 5 103 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877715 82877715 + Missense_Mutation SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:82877715G>T ENST00000298281.4 + 5 2228 c.1776G>T c.(1774-1776)aaG>aaT p.K592N NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 592 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AAAGTTCCAAGTCTGCCAAAA 0.363000 35 148 9.80977e-26 1.01922e-25 1 1 0 TBC1D20 128637 broad.mit.edu 37 20 428638 428638 + Missense_Mutation SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:428638T>C ENST00000354200.4 - 2 298 c.151A>G c.(151-153)Aga>Gga p.R51G NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 51 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) GCCATGCGTCTAAGGGCAGCC 0.488000 38 48 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113384616 113384616 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:113384616C>T ENST00000228928.7 + 4 884 c.705C>T c.(703-705)ttC>ttT p.F235F RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 235 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGACCATCTTCGCCTGGGAGC 0.587000 10 13 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151894524 151894524 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:151894524C>T ENST00000367290.5 + 6 1079 c.990C>T c.(988-990)atC>atT p.I330I CCDC170_ENST00000239374.7_Silent_p.I330I Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 330 GGGAGAAAATCGCAGCCCTCC 0.498000 33 69 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33747153 33747153 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:33747153C>G ENST00000403687.3 + 7 1240 c.500C>G c.(499-501)tCt>tGt p.S167C RASGRP3_ENST00000407811.1_Missense_Mutation_p.S167C|RASGRP3_ENST00000402538.3_Missense_Mutation_p.S167C NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 167 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) GAGCATAAATCTTTTAGAAGG 0.418000 108 158 0 0 1 0 0 VEGFA 7422 broad.mit.edu 37 6 43749740 43749740 + Missense_Mutation SNP A A G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:43749740A>G ENST00000372067.3 + 6 1504 c.1010A>G c.(1009-1011)gAt>gGt p.D337G VEGFA_ENST00000518689.1_Missense_Mutation_p.D175G|VEGFA_ENST00000523125.1_Missense_Mutation_p.D157G|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.D181G|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000417285.2_Missense_Mutation_p.D337G|VEGFA_ENST00000413642.3_Missense_Mutation_p.D355G|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372055.4_Missense_Mutation_p.D378G|VEGFA_ENST00000523873.1_Missense_Mutation_p.D198G|VEGFA_ENST00000425836.2_Missense_Mutation_p.D361G|VEGFA_ENST00000523950.1_Missense_Mutation_p.D157G|VEGFA_ENST00000518824.1_Missense_Mutation_p.D157G|VEGFA_ENST00000482630.2_Missense_Mutation_p.D337G|VEGFA_ENST00000230480.6_Missense_Mutation_p.D129G|VEGFA_ENST00000324450.6_Intron NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A 198 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) TTTGTACAAGATCCGCAGACG 0.493000 33 50 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9520219 9520219 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:9520219C>T ENST00000378429.3 - 11 2596 c.2050G>A c.(2050-2052)Gag>Aag p.E684K PAK7_ENST00000353224.5_Missense_Mutation_p.E684K|PAK7_ENST00000378423.1_Missense_Mutation_p.E684K NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 684 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TGAGAGGGCTCCCTCACCAAC 0.507000 79 179 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4281537 4281537 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:4281537C>A ENST00000404826.2 + 43 6382 c.6243C>A c.(6241-6243)aaC>aaA p.N2081K SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.N2061K NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2081 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCAAGAAGAACGGGACCAGGT 0.642000 34 44 1.04352e-10 1.06435e-10 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248685265 248685265 + Silent SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:248685265G>T ENST00000343414.4 + 1 350 c.318G>T c.(316-318)ggG>ggT p.G106G NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGCCATGGGGTTGGGCTCGT 0.542000 38 116 1.96642e-18 2.02932e-18 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10975828 10975828 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:10975828G>A ENST00000254488.2 + 12 1617 c.1551G>A c.(1549-1551)atG>atA p.M517I NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 517 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGTGCTGGATGATCATGACCC 0.557000 52 79 0 0 1 0 0 RAD51 5888 broad.mit.edu 37 15 41021022 41021022 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr15:41021022G>A ENST00000267868.3 + 7 912 c.644_splice c.e7+1 p.R215_splice RAD51_ENST00000382643.3_Splice_Site_p.R216_splice|RAD51_ENST00000423169.2_Splice_Site_p.R215_splice|RAD51_ENST00000532743.1_Splice_Site_p.R216_splice|RAD51_ENST00000557850.1_Splice_Site_p.R118_splice NM_002875.4 NP_002866.2 Q06609 RAD51_HUMAN RAD51 recombinase 215 Interaction with PALB2. DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) GTAGAATCTAGGTATGTGTTC 0.413000 Homologous recombination 86 50 0 0 1 0 0 CA1 759 broad.mit.edu 37 8 86253854 86253854 + Missense_Mutation SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:86253854G>T ENST00000523953.1 - 3 1057 c.11C>A c.(10-12)cCa>cAa p.P4Q CA1_ENST00000523022.1_Missense_Mutation_p.P4Q|CA1_ENST00000542576.1_Missense_Mutation_p.P4Q|CA1_ENST00000432364.2_Missense_Mutation_p.P4Q|CA1_ENST00000522389.1_5'UTR|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Missense_Mutation_p.P4Q|CA1_ENST00000256119.5_Missense_Mutation_p.P4Q P00915 CAH1_HUMAN carbonic anhydrase I 4 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) TCCCCAGTCTGGACTTGCCAT 0.338000 18 64 6.94344e-10 7.07032e-10 1 1 0 ASTN2 23245 broad.mit.edu 37 9 119488215 119488215 + Missense_Mutation SNP G G C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:119488215G>C ENST00000313400.4 - 16 2741 c.2641C>G c.(2641-2643)Ctc>Gtc p.L881V ASTN2_ENST00000373996.3_Missense_Mutation_p.L877V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L830V O75129 ASTN2_HUMAN astrotactin 2 881 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGGATCTTGAGAACATTAGTG 0.547000 18 64 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585287 82585287 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:82585287C>T ENST00000423517.2 - 5 5319 c.4982G>A c.(4981-4983)gGa>gAa p.G1661E PCLO_ENST00000333891.8_Missense_Mutation_p.G1661E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1592 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 TAGCCCTCCTCCTCCAGTAAC 0.368000 104 162 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48800332 48800332 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:48800332C>T ENST00000315396.7 - 14 2596 c.1914G>A c.(1912-1914)tcG>tcA p.S638S NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 638 Ser-rich. cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GGCCTCCGCTCGAATCAGACG 0.672000 55 63 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879506 27879506 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:27879506C>T ENST00000303324.2 - 1 668 c.592G>A c.(592-594)Gaa>Aaa p.E198K NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AAGAATAGTTCAGCCTCATTT 0.438000 15 160 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51470438 51470438 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:51470438G>A ENST00000376851.3 - 3 623 c.184C>T c.(184-186)Cac>Tac p.H62Y KLK6_ENST00000594641.1_Missense_Mutation_p.H62Y|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000376853.4_Missense_Mutation_p.H62Y|KLK6_ENST00000310157.2_Missense_Mutation_p.H62Y|KLK6_ENST00000391808.1_5'UTR NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 62 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TTTTTGCAGTGGGCAGCTGTG 0.542000 35 48 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128486475 128486475 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:128486475G>A ENST00000325888.8 + 23 4346 c.4085G>A c.(4084-4086)gGt>gAt p.G1362D FLNC_ENST00000346177.6_Missense_Mutation_p.G1362D NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1362 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGCCTGGAGGGTGGCTTGGTC 0.627000 6 157 0 0 1 0 0 FAM41C 284593 broad.mit.edu 37 1 809599 809599 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:809599G>A ENST00000446136.1 - 0 1094 NR_027055.1 ACGGGCGAGGGCATGGAAGAG 0.527000 79 122 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961316 1961316 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:1961316C>T ENST00000217305.2 - 4 643 c.418G>A c.(418-420)Gga>Aga p.G140R RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.G140R|PDYN_ENST00000539905.1_Missense_Mutation_p.G140R NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 140 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GACTCTGCTCCCTCCCTAAAC 0.547000 44 99 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131222231 131222231 + Missense_Mutation SNP G G C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:131222231G>C ENST00000337057.3 - 7 1200 c.1019C>G c.(1018-1020)aCc>aGc p.T340S EPB41L2_ENST00000527411.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.T340S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.T340S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000529208.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.T340S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.T340S NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 340 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) AGCCTGCAGGGTGTAGGATCC 0.547000 28 140 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189873662 189873662 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:189873662C>T ENST00000304636.3 + 48 3708 c.3538C>T c.(3538-3540)Cac>Tac p.H1180Y COL3A1_ENST00000317840.5_Missense_Mutation_p.H877Y NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1180 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTCCCCAGGCCACCCAGGGCA 0.532000 92 89 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876392 35876392 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:35876392A>C ENST00000303115.3 + 8 1313 c.1184A>C c.(1183-1185)aAg>aCg p.K395T IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 395 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.K395M(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GAGAGTGGCAAGAATGGGCCT 0.542000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 5 43 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401079 55401079 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:55401079C>T ENST00000391723.3 + 4 604 c.604C>T c.(604-606)Cgt>Tgt p.R202C FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.L142L|FCAR_ENST00000391724.3_Silent_p.L204L|FCAR_ENST00000391725.3_Silent_p.L216L|FCAR_ENST00000391726.3_Silent_p.L130L|FCAR_ENST00000355524.3_Silent_p.L238L|FCAR_ENST00000353758.4_Silent_p.L129L|FCAR_ENST00000359272.4_Silent_p.L226L NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.L238L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) GACTGGTCCTCGTGGCTCTCT 0.542000 194 252 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914196 156914196 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:156914196G>A ENST00000368194.3 - 31 4060 c.3021C>T c.(3019-3021)atC>atT p.I1007I ARHGEF11_ENST00000361409.2_Silent_p.I967I|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.I383I NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 967 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTCCCTCATGGATCATTTTTC 0.488000 13 74 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14101530 14101530 + RNA SNP G G A rs147795614 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:14101530G>A ENST00000310358.7 + 0 1174 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CATTTTATGGGAATTGGTCCG 0.458000 46 43 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6638859 6638859 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:6638859G>A ENST00000299427.6 - 4 438 c.378C>T c.(376-378)atC>atT p.I126I TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 126 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) CCTCTCACCGGATGCTCAGCC 0.567000 60 96 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152512945 152512945 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:152512945C>T ENST00000427231.2 - 49 6419 c.6217G>A c.(6217-6219)Ggg>Agg p.G2073R NEB_ENST00000172853.10_Missense_Mutation_p.G2073R|NEB_ENST00000604864.1_Missense_Mutation_p.G2073R|NEB_ENST00000397345.3_Missense_Mutation_p.G2073R|NEB_ENST00000603639.1_Missense_Mutation_p.G2073R|NEB_ENST00000409198.1_Missense_Mutation_p.G2073R NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2073 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACCATTTTCCCCTTCCCTTTT 0.368000 115 114 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40269572 40269572 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:40269572G>A ENST00000225916.5 - 10 1524 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 491 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TCCTCCAGGCGGGCTGTCTCA 0.667000 19 20 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152273381 152273381 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:152273381G>A ENST00000243326.4 + 5 952 c.469G>A c.(469-471)Gtt>Att p.V157I RIF1_ENST00000433166.2_Missense_Mutation_p.V157I|RIF1_ENST00000430328.2_Missense_Mutation_p.V157I|RIF1_ENST00000428287.2_Missense_Mutation_p.V157I|RIF1_ENST00000453091.2_Missense_Mutation_p.V157I|RIF1_ENST00000444746.2_Missense_Mutation_p.V157I Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 157 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GCATTCTGCTGTTGTTGATTT 0.313000 31 127 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480404 32480404 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:32480404G>A ENST00000548411.1 + 5 1196 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K BICD1_ENST00000281474.5_Missense_Mutation_p.E339K NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 339 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGTAGAGCGGGAAAAGGCCAT 0.507000 64 99 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11450904 11450904 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:11450904C>T ENST00000423059.3 - 19 3979 c.3728G>A c.(3727-3729)gGa>gAa p.G1243E 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 1243 TSP type-1 12. 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) TGTTTTTATTCCATTTCCACA 0.418000 HNSCC(18;0.044) 23 111 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085822 92085822 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:92085822G>A ENST00000298047.6 + 1 561 c.544G>A c.(544-546)Gca>Aca p.A182T FAT3_ENST00000409404.2_Missense_Mutation_p.A182T|FAT3_ENST00000525166.1_Missense_Mutation_p.A32T|FAT3_ENST00000541502.1_Missense_Mutation_p.A182T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 182 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCAGGTGACTGCAACAGACGC 0.408000 TCGA Ovarian(4;0.039) 41 59 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44915951 44915951 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:44915951G>A ENST00000429094.2 - 18 2511 c.2007C>T c.(2005-2007)ttC>ttT p.F669F NELL2_ENST00000452445.2_Silent_p.F669F|NELL2_ENST00000551601.1_Silent_p.F621F|NELL2_ENST00000333837.4_Silent_p.F692F|NELL2_ENST00000437801.2_Silent_p.F719F|NELL2_ENST00000549027.1_Silent_p.F668F|NELL2_ENST00000395487.2_Silent_p.F668F NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 669 VWFC 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GACACATAACGAATCCATTCT 0.443000 18 40 0 0 1 0 0 C11orf80 79703 broad.mit.edu 37 11 66555725 66555725 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:66555725C>G ENST00000360962.4 + 5 625 c.618C>G c.(616-618)ttC>ttG p.F206L C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000540737.1_Missense_Mutation_p.F40L|C11orf80_ENST00000525449.2_Missense_Mutation_p.F51L|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_Missense_Mutation_p.F51L|C11orf80_ENST00000532565.2_5'UTR NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 51 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 TAACACCCTTCCAGATGATTT 0.388000 14 83 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145528591 145528591 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:145528591C>T ENST00000369304.3 + 5 563 c.388C>T c.(388-390)Cgt>Tgt p.R130C ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000539363.1_Intron NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 130 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.R130C(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTCTGGTCTCGTGCTTGTGG 0.592000 50 70 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41648069 41648069 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr21:41648069C>T ENST00000400454.1 - 11 2788 c.2311G>A c.(2311-2313)Gat>Aat p.D771N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 771 Ig-like C2-type 8. 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) GCGCCCACATCGTTGCTGACC 0.483000 24 58 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532441 92532441 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:92532441C>A ENST00000298047.6 + 9 6279 c.6262C>A c.(6262-6264)Cca>Aca p.P2088T FAT3_ENST00000409404.2_Missense_Mutation_p.P2088T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1938T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2088 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTGGGCCTCCCATACTATGC 0.493000 TCGA Ovarian(4;0.039) 15 51 6.72482e-11 6.87053e-11 1 1 0 PTPRN 5798 broad.mit.edu 37 2 220166953 220166953 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:220166953C>T ENST00000295718.2 - 6 1140 c.900G>A c.(898-900)ggG>ggA p.G300G PTPRN_ENST00000423636.2_Silent_p.G210G|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.G300G NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 300 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGCTGCTGCTCCCTTGCTCTG 0.617000 22 22 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13565975 13565975 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:13565975G>A ENST00000360228.5 - 2 344 c.345C>T c.(343-345)ctC>ctT p.L115L CACNA1A_ENST00000573710.2_Silent_p.L115L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 115 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCTCCAGTGCGAGGACGATGC 0.453000 51 180 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370455 17370455 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:17370455G>A ENST00000252597.3 - 6 1028 c.855C>T c.(853-855)ccC>ccT p.P285P USHBP1_ENST00000431146.2_Silent_p.P221P NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 285 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CAGGACTGAGGGGCTGGTTGG 0.592000 107 123 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431734 89431734 + RNA SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:89431734G>A ENST00000532352.1 + 0 2016 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TCACAGTGCAGGCAGCTGCAG 0.418000 60 93 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528275 20528275 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:20528275A>C ENST00000315683.1 + 1 72 c.72A>C c.(70-72)caA>caC p.Q24H NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GGGAACTTCAAATTTTCTTCT 0.383000 10 310 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55759190 55759190 + Missense_Mutation SNP T T C rs141133753 by1000genomes TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:55759190T>C ENST00000343399.3 + 1 296 c.296T>C c.(295-297)cTa>cCa p.L99P NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GTGGCTCAGCTATTTTTTTTC 0.438000 82 133 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23912519 23912519 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:23912519A>C ENST00000382298.3 - 10 6084 c.5496T>G c.(5494-5496)ttT>ttG p.F1832L SACS_ENST00000382292.3_Missense_Mutation_p.F1832L|SACS_ENST00000402364.1_Missense_Mutation_p.F1082L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1832 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CACTCAGGGAAAACTTCAGAG 0.488000 71 70 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120613963 120613963 + Missense_Mutation SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:120613963A>C ENST00000300648.6 - 10 908 c.896T>G c.(895-897)aTc>aGc p.I299S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 299 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCTTTCACGATGTCCATGGC 0.507000 39 97 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 20998548 20998548 + Missense_Mutation SNP G G A rs141369367 byFrequency TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:20998548G>A ENST00000247986.2 - 12 2915 c.2605C>T c.(2605-2607)Cgc>Tgc p.R869C KIF17_ENST00000400463.3_Missense_Mutation_p.R869C|KIF17_ENST00000375044.1_Missense_Mutation_p.R769C|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 869 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CAGTCCCTGCGAATCAGGGGC 0.557000 41 50 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203140228 203140228 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:203140228G>A ENST00000255416.4 - 6 951 c.894C>T c.(892-894)ctC>ctT p.L298L NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 298 Fibronectin type-III 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) TGTAGCCCAGGAGCTCTGTGT 0.612000 53 113 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177615 7177615 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:7177615G>A ENST00000406697.1 + 15 2355 c.1727G>A c.(1726-1728)aGa>aAa p.R576K C1S_ENST00000360817.5_Missense_Mutation_p.R576K|C1S_ENST00000402681.3_Missense_Mutation_p.R409K|C1S_ENST00000328916.3_Missense_Mutation_p.R576K P09871 C1S_HUMAN complement component 1, s subcomponent 576 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) ACAGAGAAGAGAGATCGTGCT 0.552000 31 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614209 179614209 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:179614209C>T ENST00000360870.5 - 46 13140 c.12918G>A c.(12916-12918)agG>agA p.R4306R TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 439 Ig-like 23. 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) GAAAATAGTCCCTTACTGAAT 0.413000 90 81 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5948109 5948109 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:5948109G>A ENST00000378896.3 + 9 1280 c.903G>A c.(901-903)caG>caA p.Q301Q MCM8_ENST00000378886.2_Silent_p.Q301Q|MCM8_ENST00000265187.4_Silent_p.Q301Q|MCM8_ENST00000378883.1_Silent_p.Q301Q NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 301 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CTGATGATCAGAGAGAAGCAG 0.388000 49 77 0 0 1 0 0 FAM43B 163933 broad.mit.edu 37 1 20879540 20879540 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:20879540C>T ENST00000332947.4 + 1 609 c.74C>T c.(73-75)cCg>cTg p.P25L NM_207334.2 NP_997217.1 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 25 large_intestine(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) AGCCTGAGTCCGGGGCTCGCC 0.687000 18 18 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1882108 1882108 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:1882108G>A ENST00000518288.1 + 27 3457 c.3294_splice c.e27+1 p.E1098_splice ARHGEF10_ENST00000398564.1_Splice_Site_p.E1099_splice|ARHGEF10_ENST00000520359.1_Splice_Site_p.E1036_splice|ARHGEF10_ENST00000349830.3_Splice_Site_p.E1074_splice|ARHGEF10_ENST00000262112.6_Splice_Site_p.E1070_splice O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1099 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ATGCTGTAGAGGTAAGTCACT 0.498000 19 38 0 0 1 0 0 SMPD2 6610 broad.mit.edu 37 6 109764994 109764994 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:109764994G>A ENST00000258052.3 + 10 1517 c.1158G>A c.(1156-1158)caG>caA p.Q386Q NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 386 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) ATAGGGCCCAGGCTGAGCTCC 0.617000 35 50 0 0 1 0 0 ENKUR 219670 broad.mit.edu 37 10 25279504 25279504 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:25279504C>T ENST00000331161.4 - 4 701 c.482G>A c.(481-483)cGa>cAa p.R161Q ENKUR_ENST00000376363.1_Missense_Mutation_p.R161Q NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 161 cilium|flagellum calmodulin binding|SH3 domain binding endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 TTCCTCGTTTCGCTTACATAT 0.358000 40 40 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9417680 9417680 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:9417680C>T ENST00000378501.2 + 26 2624 c.2609C>T c.(2608-2610)tCc>tTc p.S870F PLCB4_ENST00000278655.4_Missense_Mutation_p.S870F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S882F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S870F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S882F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S870F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 870 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGTGACACTTCCAAAAATGAC 0.473000 18 26 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127912095 127912095 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:127912095G>A ENST00000451402.1 - 8 1106 c.886C>T c.(886-888)Cct>Tct p.P296S PPP6C_ENST00000373546.3_Missense_Mutation_p.P112S|PPP6C_ENST00000415905.1_Missense_Mutation_p.P237S|PPP6C_ENST00000373547.4_Missense_Mutation_p.P259S NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 259 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.P259S(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 CAGTAATTAGGAGCAGACCAT 0.388000 56 23 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356090 40356090 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:40356090G>A ENST00000310169.2 + 5 1132 c.993G>A c.(991-993)cgG>cgA p.R331R NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 331 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) CCGAGGCCCGGCCGGTGCCAC 0.552000 64 211 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50290733 50290733 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr20:50290733G>A ENST00000338821.5 - 11 1260 c.996C>T c.(994-996)atC>atT p.I332I ATP9A_ENST00000402822.1_Silent_p.I211I|ATP9A_ENST00000311637.5_Silent_p.I196I NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 332 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGAAGCGGATGATCTGCAGGT 0.522000 41 92 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180835714 180835714 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:180835714C>T ENST00000410053.3 - 9 1193 c.894G>A c.(892-894)aaG>aaA p.K298K CWC22_ENST00000295749.6_Silent_p.K298K NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 298 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 GGCCACATTCCTTAAGAAAAC 0.338000 25 66 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976334 20976334 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:20976334C>T ENST00000261383.3 - 53 8871 c.8872G>A c.(8872-8874)Gaa>Aaa p.E2958K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2958 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAGCAGATTTCAATGTTTTCC 0.522000 144 160 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109968439 109968439 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:109968439G>A ENST00000342494.3 + 26 3493 c.2898G>A c.(2896-2898)ccG>ccA p.P966P UBE3B_ENST00000535089.1_Silent_p.P53P|UBE3B_ENST00000434735.2_Silent_p.P966P NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 966 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 ACTTCACACCGGATGAGAGAG 0.428000 42 95 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1882109 1882109 + Splice_Site SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:1882109G>A ENST00000518288.1 + 27 3457 c.e27+1 ARHGEF10_ENST00000398564.1_Splice_Site|ARHGEF10_ENST00000520359.1_Splice_Site|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000262112.6_Splice_Site O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGCTGTAGAGGTAAGTCACTT 0.493000 19 40 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44573360 44573360 + Silent SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:44573360A>T ENST00000289547.4 - 7 2314 c.2259T>A c.(2257-2259)tcT>tcA p.S753S NPC1L1_ENST00000423141.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.S753S|NPC1L1_ENST00000546276.1_Silent_p.S753S NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 753 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGATGGCCTCAGAGAGGCTGC 0.647000 15 64 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71928963 71928963 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:71928963C>T ENST00000266674.5 + 4 736 c.425C>T c.(424-426)tCc>tTc p.S142F LGR5_ENST00000536515.1_Missense_Mutation_p.S142F|LGR5_ENST00000540815.2_Missense_Mutation_p.S142F O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 142 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AGCCTTCAATCCCTGTAAGTA 0.348000 25 104 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40945727 40945727 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:40945727G>A ENST00000246914.5 + 12 2296 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 759 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGAGGCTGCTGAAGACACCCT 0.572000 29 27 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943624 9943624 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:9943624G>A ENST00000396573.2 - 6 1626 c.1317C>T c.(1315-1317)ttC>ttT p.F439F GRIN2A_ENST00000404927.2_Silent_p.F439F|GRIN2A_ENST00000535259.1_Silent_p.F282F|GRIN2A_ENST00000396575.2_Silent_p.F439F|GRIN2A_ENST00000562109.1_Silent_p.F439F|GRIN2A_ENST00000330684.3_Silent_p.F439F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 439 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGATTTTGACGAACTTCCGAC 0.502000 24 81 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60938447 60938447 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:60938447G>A ENST00000321731.3 - 6 493 c.334C>T c.(334-336)Cat>Tat p.H112Y NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 112 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ATATAATCATGATACATTTCT 0.269000 22 46 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2763042 2763042 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:2763042C>T ENST00000399655.1 + 33 4381 c.4116C>T c.(4114-4116)ttC>ttT p.F1372F CACNA1C_ENST00000402845.3_Silent_p.F1372F|CACNA1C_ENST00000399621.1_Silent_p.F1372F|CACNA1C_ENST00000399637.1_Silent_p.F1372F|CACNA1C_ENST00000399606.1_Silent_p.F1392F|CACNA1C_ENST00000399601.1_Silent_p.F1372F|CACNA1C_ENST00000344100.3_Silent_p.F1394F|CACNA1C_ENST00000399629.1_Silent_p.F1389F|CACNA1C_ENST00000399641.1_Silent_p.F1372F|CACNA1C_ENST00000399617.1_Silent_p.F1372F|CACNA1C_ENST00000399638.1_Silent_p.F1400F|CACNA1C_ENST00000399595.1_Silent_p.F1361F|CACNA1C_ENST00000335762.5_Silent_p.F1397F|CACNA1C_ENST00000347598.4_Silent_p.F1420F|CACNA1C_ENST00000399597.1_Silent_p.F1372F|CACNA1C_ENST00000399591.1_Silent_p.F1361F|CACNA1C_ENST00000399634.1_Silent_p.F1372F|CACNA1C_ENST00000406454.3_Silent_p.F1372F|CACNA1C_ENST00000399644.1_Silent_p.F1372F|CACNA1C_ENST00000327702.7_Silent_p.F1372F|CACNA1C_ENST00000399603.1_Silent_p.F1372F|CACNA1C_ENST00000399649.1_Silent_p.F1359F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1420 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCTGTTCTTCATCTACGCGG 0.632000 27 34 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15815318 15815318 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:15815318C>T ENST00000338282.6 - 32 4645 c.4539G>A c.(4537-4539)atG>atA p.M1513I MYH11_ENST00000452625.2_Missense_Mutation_p.M1520I|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.M1513I|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.M1513I|MYH11_ENST00000396324.3_Missense_Mutation_p.M1520I NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1513 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCAGGTCTTCCATTTCGGCTT 0.552000 T CBFB AML 18 60 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46324674 46324674 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:46324674G>A ENST00000245934.7 - 22 3105 c.2861C>T c.(2860-2862)tCc>tTc p.S954F SYMPK_ENST00000598155.1_5'UTR NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 954 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GCACTTCACGGAGTCAATGTT 0.612000 14 70 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64435984 64435984 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:64435984C>T ENST00000265459.6 - 8 1751 c.1290G>A c.(1288-1290)ggG>ggA p.G430G NRXN2_ENST00000377559.3_Silent_p.G399G|NRXN2_ENST00000377551.1_Silent_p.G430G|NRXN2_ENST00000409571.1_Silent_p.G423G NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 430 Laminin G-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGGGGCTGCCCCCAATGTAGA 0.612000 59 86 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156635941 156635941 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr5:156635941C>T ENST00000422843.3 + 2 332 c.180C>T c.(178-180)atC>atT p.I60I CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 60 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTCCCGAATCAAATGTGTTG 0.458000 T SYK peripheral T-cell lymphoma 37 23 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152485313 152485313 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:152485313C>T ENST00000367255.5 - 131 24376 c.23775G>A c.(23773-23775)aaG>aaA p.K7925K SYNE1_ENST00000265368.4_Silent_p.K7925K|SYNE1_ENST00000423061.1_Silent_p.K7854K|SYNE1_ENST00000356820.4_Silent_p.K2449K|SYNE1_ENST00000341594.5_Silent_p.K7537K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.K80K|SYNE1_ENST00000539504.1_Silent_p.K80K|SYNE1_ENST00000448038.1_Silent_p.K7854K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7925 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTCATTAAGCTTTCTCTGTA 0.478000 HNSCC(10;0.0054) 29 141 0 0 1 0 0 ZBTB3 79842 broad.mit.edu 37 11 62521071 62521071 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:62521071G>A ENST00000394807.3 - 2 341 c.216C>T c.(214-216)ttC>ttT p.F72F NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AGTCACAAAGGAAACCCTGGG 0.582000 16 22 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48606463 48606463 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:48606463G>A ENST00000323776.5 + 18 2929 c.2767G>A c.(2767-2769)Gac>Aac p.D923N MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D886N NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 886 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TTCTTTGGAAGACCCTACCCC 0.527000 13 73 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810398 124810398 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:124810398C>T ENST00000334705.7 + 16 1726 c.1480C>T c.(1480-1482)Cta>Tta p.L494L FAM91A1_ENST00000521166.1_Silent_p.L494L NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 494 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CAGCAGAGTTCTAAACAAAAA 0.473000 161 180 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695312 247695312 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:247695312G>A ENST00000366487.3 - 2 863 c.502C>T c.(502-504)Ccg>Tcg p.P168S GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CCACACAGCGGTAGGAGCATG 0.542000 18 30 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124272418 124272418 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr12:124272418G>A ENST00000409039.3 + 10 1331 c.1306G>A c.(1306-1308)Gcc>Acc p.A436T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 436 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTGGAAAAAGGCCTATTTTGA 0.557000 11 20 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32696142 32696142 + Missense_Mutation SNP A A G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:32696142A>G ENST00000421745.2 + 32 6676 c.6542A>G c.(6541-6543)tAt>tGt p.Y2181C NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2181 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTGCTGGATTATGTGGCAACT 0.418000 4 11 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832403 72832403 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr17:72832403C>T ENST00000335464.5 + 10 1230 c.1068C>T c.(1066-1068)ttC>ttT p.F356F TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.F356F|TMEM104_ENST00000417024.2_Intron NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 356 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) TGCGCTTTTTCCTGGGCCTCT 0.617000 61 179 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545436 54545436 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:54545436C>T ENST00000338372.2 - 6 677 c.502G>A c.(502-504)Gaa>Aaa p.E168K VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.E137K|VSTM1_ENST00000366170.2_Missense_Mutation_p.E80K NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 168 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TTGGTGGATTCCTCAGATGAT 0.493000 41 136 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604239 111604239 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:111604239G>A ENST00000431670.2 + 2 1726 c.1315G>A c.(1315-1317)Gag>Aag p.E439K PHLDB2_ENST00000393923.3_Missense_Mutation_p.E466K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E439K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E439K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E439K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E439K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E439K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 439 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AAGACTCAGGGAGCAGGAAAT 0.512000 44 82 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38424495 38424495 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:38424495G>A ENST00000356264.2 - 21 2227 c.2012C>T c.(2011-2013)tCa>tTa p.S671L AMPH_ENST00000428293.2_Missense_Mutation_p.S629L|AMPH_ENST00000325590.5_Missense_Mutation_p.S629L NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 671 SH3. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 AAGCCAGTCTGATTCCTTCAC 0.478000 110 123 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20940837 20940837 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr11:20940837G>A ENST00000298925.5 + 8 953 c.800G>A c.(799-801)gGa>gAa p.G267E NELL1_ENST00000532434.1_Missense_Mutation_p.G239E|NELL1_ENST00000325319.5_Missense_Mutation_p.G182E|NELL1_ENST00000357134.5_Missense_Mutation_p.G239E Q92832 NELL1_HUMAN NEL-like 1 (chicken) 239 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTGGTGCAAGGAATAATGGAT 0.303000 64 105 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91841272 91841272 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:91841272G>A ENST00000370425.3 - 12 1506 c.1408C>T c.(1408-1410)Ctt>Ttt p.L470F HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L149F NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 470 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCATCTGAAAGCCATTCTGCA 0.363000 87 80 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21031159 21031159 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:21031159C>T ENST00000261383.3 - 41 5808 c.5809G>A c.(5809-5811)Gaa>Aaa p.E1937K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1937 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCACCTAATTCCATTTCCTCC 0.483000 60 69 0 0 1 0 0 NFIA 4774 broad.mit.edu 37 1 61553830 61553830 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:61553830C>T ENST00000403491.3 + 2 521 c.37C>T c.(37-39)Cat>Tat p.H13Y NFIA_ENST00000371191.1_Missense_Mutation_p.H36Y|NFIA_ENST00000371187.3_Missense_Mutation_p.H13Y|NFIA_ENST00000371185.2_Missense_Mutation_p.H13Y|NFIA_ENST00000407417.3_Missense_Mutation_p.H5Y|NFIA_ENST00000485903.2_Missense_Mutation_p.H13Y|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371184.2_Missense_Mutation_p.H13Y|NFIA_ENST00000371189.4_Missense_Mutation_p.H58Y NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 13 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 GGATGAATTTCATCCTTTCAT 0.378000 69 133 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14974654 14974654 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:14974654G>A ENST00000285046.5 + 20 4479 c.4369G>A c.(4369-4371)Gaa>Aaa p.E1457K FGD5_ENST00000543601.1_Missense_Mutation_p.E1173K|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1457 PH 2. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CGAGGCCATGGAAGATGCGAG 0.428000 11 23 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33741745 33741745 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:33741745C>T ENST00000539719.1 + 3 253 c.83C>T c.(82-84)cCt>cTt p.P28L ZNF362_ENST00000373428.5_Missense_Mutation_p.P28L NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGGCCCCCTCCTCCCACCATG 0.662000 33 70 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100361870 100361870 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr1:100361870C>T ENST00000294724.4 + 25 3766 c.3288C>T c.(3286-3288)ttC>ttT p.F1096F AGL_ENST00000370161.2_Silent_p.F1080F|AGL_ENST00000370163.3_Silent_p.F1096F|AGL_ENST00000361522.4_Silent_p.F1079F|AGL_ENST00000361915.3_Silent_p.F1096F|AGL_ENST00000361302.3_Silent_p.F1080F|AGL_ENST00000370165.3_Silent_p.F1096F NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1096 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTGGTATTTTCCGCTGCTGGG 0.373000 97 178 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417464 150417464 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:150417464C>T ENST00000307194.5 + 3 512 c.372C>T c.(370-372)ttC>ttT p.F124F NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGTCGGTTCACCGCCCAGG 0.627000 46 61 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432456 104432456 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:104432456C>T ENST00000361820.3 - 3 2838 c.2238G>A c.(2236-2238)atG>atA p.M746I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 746 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCCAAAGGTTCATTAGAAACC 0.438000 149 47 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102235631 102235631 + Missense_Mutation SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr13:102235631C>T ENST00000376180.3 + 6 1012 c.793C>T c.(793-795)Cat>Tat p.H265Y ITGBL1_ENST00000376162.3_Missense_Mutation_p.H172Y|ITGBL1_ENST00000545560.2_Missense_Mutation_p.H124Y NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 265 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGGAGATATTCATGGGGACAC 0.458000 42 229 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36982427 36982427 + Missense_Mutation SNP C C G TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:36982427C>G ENST00000274963.8 + 7 1000 c.829C>G c.(829-831)Ctg>Gtg p.L277V NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 277 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 TTCAGAAGCCCTGGACATGAT 0.602000 30 57 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48818845 48818845 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:48818845G>A ENST00000309835.3 + 2 1994 c.1984G>A c.(1984-1986)Gaa>Aaa p.E662K STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E662K|STON1_ENST00000406226.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E662K|STON1_ENST00000404752.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E662K stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATCAGACCAAGAAATTCCCTC 0.438000 89 267 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73718015 73718015 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:73718015G>A ENST00000264448.6 + 10 9037 c.8926G>A c.(8926-8928)Gat>Aat p.D2976N ALMS1_ENST00000409009.1_Missense_Mutation_p.D2934N NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2976 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 GCCAGGTGTAGATGACCAAAT 0.408000 40 212 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103198474 103198474 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:103198474G>A ENST00000428762.1 - 37 5711 c.5552C>T c.(5551-5553)tCa>tTa p.S1851L RELN_ENST00000343529.5_Missense_Mutation_p.S1851L|RELN_ENST00000424685.2_Missense_Mutation_p.S1851L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1851 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) TAGATCTCTTGAAATAAGCAT 0.279000 44 60 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170476941 170476941 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:170476941G>A ENST00000439128.2 - 17 2132 c.1492C>T c.(1492-1494)Cct>Tct p.P498S NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.P498S|NEK1_ENST00000511633.1_Intron NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 498 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCAGCATCAGGAAAATGGTGA 0.413000 45 59 0 0 1 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868369 31868369 + Silent SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:31868369G>A ENST00000375527.2 - 2 889 c.714C>T c.(712-714)tcC>tcT p.S238S C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 238 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GGCCACCCACGGAGCCTCCAA 0.662000 35 57 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795810 69795810 + Splice_Site SNP A A C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:69795810A>C ENST00000251566.4 - 6 1335 c.1304_splice c.e6-1 p.S435_splice UGT2A3_ENST00000420231.2_Splice_Site_p.S146_splice NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 435 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCTCTTTATAACTGGAAGGGA 0.378000 25 92 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052244 17052244 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr3:17052244G>A ENST00000418129.2 + 2 1493 c.1028G>A c.(1027-1029)aGt>aAt p.S343N PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.S343N|PLCL2_ENST00000396755.2_Missense_Mutation_p.S343N NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 469 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGTTGCCGGAGTGTTGAATTA 0.418000 12 169 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37507968 37507968 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr10:37507968G>A ENST00000374660.1 + 40 3616 c.3517G>A c.(3517-3519)Gaa>Aaa p.E1173K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1054K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1054K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1142 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 GTTGAAAAAGGAAATTGCCAT 0.289000 33 36 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532236 40532236 + Missense_Mutation SNP C C A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:40532236C>A ENST00000297737.6 - 5 710 c.564G>T c.(562-564)atG>atT p.M188I ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 188 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TCAGTTCCCCCATATCCAGGG 0.458000 41 71 2.66277e-13 2.73413e-13 1 1 0 ZNF793 390927 broad.mit.edu 37 19 38024303 38024303 + Missense_Mutation SNP G G T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr19:38024303G>T ENST00000445217.1 + 3 271 c.236G>T c.(235-237)tGg>tTg p.W79L ZNF793_ENST00000587143.1_Missense_Mutation_p.W79L|ZNF793_ENST00000542455.1_Missense_Mutation_p.W79L|ZNF793_ENST00000588578.1_Missense_Mutation_p.W79L|ZNF793_ENST00000589319.1_Missense_Mutation_p.W79L|ZNF793_ENST00000587986.1_Missense_Mutation_p.W79L Q6ZN11 ZN793_HUMAN zinc finger protein 793 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCCACTGTTGGGGTAAGTGT 0.498000 11 48 3.03607e-14 3.12792e-14 1 1 0 BMP3 651 broad.mit.edu 37 4 81952525 81952525 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr4:81952525C>T ENST00000282701.2 + 1 407 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 29 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 AGCCACCTTTCCCGGAGCTCC 0.662000 4 15 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11862254 11862254 + Missense_Mutation SNP G G A TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr16:11862254G>A ENST00000396516.2 - 11 1474 c.1277C>T c.(1276-1278)cCa>cTa p.P426L ZC3H7A_ENST00000355758.4_Missense_Mutation_p.P426L Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 426 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TGATGAAGATGGTTTGGTAAC 0.418000 38 161 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6533032 6533032 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr9:6533032C>T ENST00000321612.6 - 25 3198 c.3048G>A c.(3046-3048)aaG>aaA p.K1016K NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 1016 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AAGACGCCCTCTTTTGTTCAG 0.463000 22 31 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84798870 84798870 + Missense_Mutation SNP A A T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:84798870A>T ENST00000257776.4 + 4 423 c.288A>T c.(286-288)agA>agT p.R96S NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 96 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 ACTTTGGAAGACCTCTGGAGC 0.438000 30 86 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39602391 39602391 + Silent SNP T T C TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr8:39602391T>C ENST00000265708.4 - 20 2299 c.2196A>G c.(2194-2196)gaA>gaG p.E732E ADAM2_ENST00000521880.1_Silent_p.E669E|ADAM2_ENST00000379853.2_Silent_p.E576E|ADAM2_ENST00000347580.4_Silent_p.E713E NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 732 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ACCCTTTAGGTTCACTCTCAC 0.323000 30 108 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9570884 9570884 + Silent SNP C C T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:9570884C>T ENST00000460593.1 + 4 1243 c.105C>T c.(103-105)ttC>ttT p.F35F CPSF3_ENST00000238112.3_Silent_p.F72F Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 72 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TTTTAAGTTTCCATTTGGATC 0.338000 74 132 0 0 1 0 0 AC007040.8 0 broad.mit.edu 37 2 71256012 71256021 + RNA DEL TCTTTTATTT TCTTTTATTT - TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr2:71256012_71256021delTCTTTTATTT ENST00000434990.1 - 0 61 CTGGTTTTTATCTTTTATTTTTCCAACCTT 0.443 3 6 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29999372 29999373 + RNA INS - - G rs28383973 TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:29999372_29999373insG ENST00000444051.1 - 0 108 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA NR_103542.1 cagaaaaaaaaagagagagaga 0.332 2 4 --- --- --- --- MAN1A1 4121 broad.mit.edu 37 6 119628120 119628126 + Frame_Shift_Del DEL GCATAAC GCATAAC - TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr6:119628120_119628126delGCATAAC ENST00000368468.3 - 3 1076_1082 c.635_641delGTTATGC c.(634-642)gcfs p.GYA212fs MAN1A1_ENST00000368466.2_Frame_Shift_Del_p.GYA235fs NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 212 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TAATCCCCAGGCATAACCTTTATAATT 0.314 65 134 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 4 6 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35254990 35254995 + In_Frame_Del DEL CAAATC CAAATC - TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:35254990_35254995delCAAATC ENST00000360310.1 - 14 2386_2391 c.1819_1824delGATTTG c.(1819-1824)del p.DL607del BAZ1A_ENST00000358716.4_In_Frame_Del_p.DL575del|BAZ1A_ENST00000382422.2_In_Frame_Del_p.DL607del NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 607 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TACCTGGTGTCAAATCATACACTGAG 0.417 49 97 --- --- --- --- RP11-909M7.3 0 broad.mit.edu 37 14 101439963 101439963 + RNA DEL G G - TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr14:101439963delG ENST00000554693.2 + 0 384 SNORD114-16_ENST00000363044.1_RNA TGTGAGTCACGCATAATGAAC 0.358 47 117 --- --- --- --- LMF2 91289 broad.mit.edu 37 22 50946063 50946063 + Frame_Shift_Del DEL G G - TCGA-EB-A3XC-01A-11D-A23B-08 TCGA-EB-A3XC-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71cb897a-7ed6-4131-9bf0-b994d6d37acf 76bd77d8-7040-4a70-8568-d78be4df6685 g.chr22:50946063delG ENST00000474879.2 - 1 57 c.42delC c.(40-42)ggfs p.G14fs LMF2_ENST00000380796.3_Frame_Shift_Del_p.G14fs|LMF2_ENST00000216080.5_5'UTR NM_033200.2 NP_149977.2 Q9BU23 LMF2_HUMAN lipase maturation factor 2 14 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGGCCGCCACGCCCTGGAGGA 0.721 4 6 --- --- --- ---