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 TTC21A 199223 broad.mit.edu 37 3 39166621 39166621 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:39166621G>A ENST00000301819.6 + 10 1362 c.1185G>A c.(1183-1185)aaG>aaA p.K395K TTC21A_ENST00000431162.2_Silent_p.K395K|TTC21A_ENST00000440121.1_Silent_p.K346K NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 395 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AATTCCTGAAGGAGGTGCAGA 0.532000 OREG0015487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 73 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49578835 49578835 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:49578835C>T ENST00000371175.4 - 7 995 c.969G>A c.(967-969)agG>agA p.R323R RHAG_ENST00000229810.7_Intron NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 323 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TATCATGGATCCTCAGTTTAG 0.428000 5 100 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56827628 56827628 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:56827628G>A ENST00000229201.4 - 3 334 c.180C>T c.(178-180)atC>atT p.I60I TIMELESS_ENST00000554616.1_Silent_p.I60I|TIMELESS_ENST00000553532.1_Silent_p.I60I NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 60 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CGCTCTGTAGGATCTGGGCTG 0.532000 24 110 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149544949 149544949 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:149544949G>A ENST00000223210.4 + 4 612 c.367G>A c.(367-369)Gag>Aag p.E123K NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TGGACACATCGAGGGAGACTG 0.557000 40 13 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206821272 206821272 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:206821272G>A ENST00000367106.1 + 4 1142 c.669G>A c.(667-669)gaG>gaA p.E223E DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Silent_p.E243E|DYRK3_ENST00000367108.3_Silent_p.E223E O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 243 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGCGCAATGAGAAGCGCTTTC 0.463000 16 169 0 0 1 0 0 LMBR1 64327 broad.mit.edu 37 7 156516853 156516853 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:156516853G>A ENST00000353442.4 - 15 1414 c.1178C>T c.(1177-1179)tCc>tTc p.S393F LMBR1_ENST00000359422.4_Missense_Mutation_p.S241F|LMBR1_ENST00000354505.4_Missense_Mutation_p.S434F|LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000540390.1_Missense_Mutation_p.S372F NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 393 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) AACCAAGATGGACACACAATT 0.378000 9 57 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136314964 136314964 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:136314964C>T ENST00000371929.3 + 23 3366 c.2922C>T c.(2920-2922)atC>atT p.I974I ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.I974I|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.I943I NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 974 TSP type-1 6. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGCGGAGGATCCTGTATTGTG 0.662000 8 32 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76857476 76857476 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:76857476C>T ENST00000491677.2 - 6 1096 c.554G>A c.(553-555)gGa>gAa p.G185E DUSP13_ENST00000372700.3_Missense_Mutation_p.G106E|DUSP13_ENST00000605915.1_Missense_Mutation_p.G78E|DUSP13_ENST00000478873.2_Missense_Mutation_p.G192E|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.G56E|DUSP13_ENST00000464872.1_Missense_Mutation_p.G56E|DUSP13_ENST00000607131.1_Missense_Mutation_p.G149E NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 48 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCACGCATCTCCCAGGAAGAG 0.612000 11 44 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288712 125288712 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:125288712G>A ENST00000304880.2 - 1 860 c.861C>T c.(859-861)atC>atT p.I287I NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TTAGGCTATAGATAAAGGGGT 0.473000 34 19 0 0 1 0 0 TBATA 219793 broad.mit.edu 37 10 72533997 72533997 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:72533997G>A ENST00000299290.1 - 9 1278 c.889C>T c.(889-891)Cct>Tct p.P297S TBATA_ENST00000456372.2_3'UTR NM_152710.2 NP_689923.2 thymus, brain and testes associated TTCTCTTGAGGAGGTTCATGC 0.622000 7 9 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163307841 163307841 + Missense_Mutation SNP A A T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:163307841A>T ENST00000271452.3 + 7 746 c.467A>T c.(466-468)aAc>aTc p.N156I NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Missense_Mutation_p.N156I|NUF2_ENST00000367900.3_Missense_Mutation_p.N156I NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 156 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) CAACAGTTAAACGCCGCACAC 0.343000 18 75 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38305672 38305672 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:38305672G>A ENST00000373036.4 - 3 707 c.567C>T c.(565-567)atC>atT p.I189I NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 189 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTCGCACGTGGATCCTGAGGC 0.537000 40 31 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215151 141215151 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:141215151C>T ENST00000389484.3 - 61 10666 c.9695G>A c.(9694-9696)gGg>gAg p.G3232E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3232 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTGGTTTTCCCATCAGTCCA 0.428000 TSP Lung(27;0.18) 88 45 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26224808 26224808 + Missense_Mutation SNP A A G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:26224808A>G ENST00000335473.7 + 15 3102 c.2852A>G c.(2851-2853)aAc>aGc p.N951S MYO18B_ENST00000536101.1_Missense_Mutation_p.N951S|MYO18B_ENST00000407587.2_Missense_Mutation_p.N951S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 951 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGCTTCCAGAACCCCCGGCAC 0.592000 11 66 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51063771 51063771 + Silent SNP C C A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:51063771C>A ENST00000547307.1 - 8 1731 c.1326G>T c.(1324-1326)ctG>ctT p.L442L ARSA_ENST00000395619.3_Silent_p.L444L|ARSA_ENST00000395621.3_Silent_p.L444L|ARSA_ENST00000216124.5_Silent_p.L444L|ARSA_ENST00000356098.5_Silent_p.L444L|ARSA_ENST00000453344.2_Silent_p.L358L|ARSA_ENST00000547805.1_Silent_p.L442L P15289 ARSA_HUMAN arylsulfatase A 442 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CCACACCCCCCAGCAGGTTGT 0.642000 26 81 9.04412e-07 9.18568e-07 1 1 0 FMO2 2327 broad.mit.edu 37 1 171178045 171178045 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:171178045C>T ENST00000441535.1 + 9 1486 c.1369C>T c.(1369-1371)Cct>Tct p.P457S RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P457S|RP1-127D3.4_ENST00000445290.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 457 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTCAAAGATCCTAAACTGGC 0.502000 99 307 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41020650 41020650 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:41020650G>A ENST00000585538.1 + 0 1489 NR_002773.1 CACTACTTTGGGGGCCTTGCG 0.522000 9 45 0 0 1 0 0 CCM2 83605 broad.mit.edu 37 7 45115434 45115434 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:45115434C>T ENST00000475551.1 + 10 1855 c.1095C>T c.(1093-1095)acC>acT p.T365T CCM2_ENST00000544363.1_Silent_p.T280T|CCM2_ENST00000474617.1_Silent_p.T274T|CCM2_ENST00000541586.1_Silent_p.T313T|CCM2_ENST00000258781.6_Silent_p.T371T|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.T392T Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 371 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TCCTGGAGACCATTGGCGTGA 0.602000 40 58 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100663452 100663452 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:100663452G>A ENST00000306151.4 + 1 100 c.36G>A c.(34-36)ctG>ctA p.L12L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 12 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) TGTGTCTGCTGACCTTGGTCC 0.657000 37 27 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98221922 98221922 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:98221922G>A ENST00000430669.2 - 17 3234 c.2649C>T c.(2647-2649)gtC>gtT p.V883V PTCH1_ENST00000437951.1_Silent_p.V883V|PTCH1_ENST00000331920.6_Silent_p.V949V|PTCH1_ENST00000418258.1_Silent_p.V798V|PTCH1_ENST00000429896.2_Silent_p.V798V|PTCH1_ENST00000421141.1_Silent_p.V798V|PTCH1_ENST00000375274.2_Silent_p.V948V Q13635 PTC1_HUMAN patched 1 949 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CTTTGTCGTGGACCCATTCTG 0.567000 15 63 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155761095 155761095 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:155761095C>T ENST00000159060.2 - 6 765 c.663G>A c.(661-663)ggG>ggA p.G221G NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 221 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CTTACCCCGTCCCATGGATGG 0.488000 15 22 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74008121 74008121 + Missense_Mutation SNP G G T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:74008121G>T ENST00000301607.3 - 19 2676 c.2423C>A c.(2422-2424)tCc>tAc p.S808Y EVPL_ENST00000586740.1_Missense_Mutation_p.S830Y NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 808 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGAGAGGTGGGATGCTGTGGC 0.627000 3 9 0.00024832 0.000250033 1 1 0 SPERT 220082 broad.mit.edu 37 13 46287923 46287923 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:46287923C>T ENST00000378966.3 + 2 1071 c.655C>T c.(655-657)Cgc>Tgc p.R219C SPERT_ENST00000310521.1_Missense_Mutation_p.R255C Q8NA61 SPERT_HUMAN spermatid associated 255 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GGAGGAGAATCGCGCGCTGCA 0.687000 5 16 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150701675 150701675 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:150701675G>A ENST00000335244.4 - 9 1241 c.1112C>T c.(1111-1113)tCc>tTc p.S371F SLC36A2_ENST00000521967.1_Missense_Mutation_p.S371F|SLC36A2_ENST00000450886.1_Missense_Mutation_p.S95F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 371 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACACCCGGGAGATGGCAAA 0.547000 14 83 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117246754 117246754 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:117246754G>A ENST00000003084.6 + 18 3067 c.2935G>A c.(2935-2937)Gat>Aat p.D979N AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.D918N NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 979 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ATTCTCCAAAGATATAGCAAT 0.269000 Cystic Fibrosis 71 82 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204985598 204985598 + Silent SNP G G A rs148890529 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:204985598G>A ENST00000367172.4 + 32 4303 c.3975G>A c.(3973-3975)aaG>aaA p.K1325K NFASC_ENST00000367169.4_Silent_p.K1049K|NFASC_ENST00000360049.4_Silent_p.K1147K|NFASC_ENST00000401399.1_Silent_p.K1218K|NFASC_ENST00000339876.6_Silent_p.K1218K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Silent_p.K1152K|NFASC_ENST00000338515.6_Silent_p.K1235K|NFASC_ENST00000367171.4_Silent_p.K1310K|NFASC_ENST00000404907.1_Silent_p.K1152K|NFASC_ENST00000338586.6_Silent_p.K1202K|NFASC_ENST00000404076.1_Silent_p.K1135K|NFASC_ENST00000513543.1_Silent_p.K1147K|NFASC_ENST00000367170.4_Silent_p.K1246K O94856 NFASC_HUMAN neurofascin 1325 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAAAGGACAAGGAGGAAACAG 0.567000 17 112 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49703917 49703917 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:49703917C>T ENST00000252826.5 + 19 2954 c.2828C>T c.(2827-2829)gCc>gTc p.A943V TRPM4_ENST00000355712.5_Missense_Mutation_p.A589V|TRPM4_ENST00000427978.2_Missense_Mutation_p.A798V NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 943 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TGGCTGGTAGCCTATGGCGTG 0.622000 17 49 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114201748 114201748 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:114201748C>T ENST00000369615.1 + 16 2738 c.2676C>T c.(2674-2676)gaC>gaT p.D892D MAGI3_ENST00000369611.4_Silent_p.D892D|MAGI3_ENST00000307546.9_Silent_p.D892D|MAGI3_ENST00000369617.4_Silent_p.D917D NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 917 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCCGGCTGACCGCTGTGGAA 0.398000 15 129 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2976069 2976069 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:2976069C>T ENST00000520002.1 - 43 6840 c.6285G>A c.(6283-6285)caG>caA p.Q2095Q CSMD1_ENST00000602723.1_Silent_p.Q2095Q|CSMD1_ENST00000400186.3_Silent_p.Q2095Q|CSMD1_ENST00000537824.1_Silent_p.Q2094Q|CSMD1_ENST00000542608.1_Silent_p.Q2094Q|CSMD1_ENST00000602557.1_Silent_p.Q2095Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2095 Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTACCCATTCTGAAATGGGG 0.408000 28 43 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103418843 103418843 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:103418843G>A ENST00000361246.2 - 24 3452 c.3164C>T c.(3163-3165)gCc>gTc p.A1055V NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1055 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACCCTCGCAGGCGTAGCCCTG 0.637000 3 12 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451046 55451046 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:55451046C>T ENST00000446217.1 - 6 1627 c.1225G>A c.(1225-1227)Gag>Aag p.E409K NLRP7_ENST00000328092.5_Missense_Mutation_p.E381K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E381K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E381K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E381K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E381K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E381K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 381 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ACCGGGTCCTCCCCCTTCTCC 0.687000 17 31 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171377080 171377080 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:171377080G>A ENST00000356327.5 - 20 2308 c.2238C>T c.(2236-2238)ttC>ttT p.F746F PLD1_ENST00000340989.4_Silent_p.F784F|PLD1_ENST00000351298.4_Silent_p.F784F|PLD1_ENST00000342215.6_3'UTR NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 784 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CACAGCTTATGAAAAACTGGT 0.353000 30 139 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11289038 11289038 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:11289038G>A ENST00000432929.2 - 6 1887 c.1527C>T c.(1525-1527)ttC>ttT p.F509F KANK2_ENST00000586659.1_Silent_p.F501F|KANK2_ENST00000589894.1_Silent_p.F501F|KANK2_ENST00000589359.1_Silent_p.F509F|KANK2_ENST00000355150.5_Silent_p.F501F NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 501 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGACCCCCACGAACTGGAGGC 0.647000 6 29 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75672358 75672358 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:75672358G>A ENST00000370855.5 - 24 2207 c.2094C>T c.(2092-2094)ttC>ttT p.F698F SLC44A5_ENST00000535611.1_Silent_p.F568F|SLC44A5_ENST00000370859.3_Intron NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 698 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TAGGGGTTACGAAGTAGGGTT 0.413000 12 89 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28997994 28997994 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:28997994C>T ENST00000524189.1 - 20 2513 c.2475G>A c.(2473-2475)caG>caA p.Q825Q CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 825 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCTCTCCTTTCTGGTTGATGA 0.413000 10 34 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19502294 19502294 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:19502294C>T ENST00000407835.1 + 15 1496 c.1240C>T c.(1240-1242)Cat>Tat p.H414Y CDC45_ENST00000263201.1_Missense_Mutation_p.H414Y|CDC45_ENST00000404724.3_Missense_Mutation_p.H368Y|CDC45_ENST00000437685.2_Missense_Mutation_p.H446Y O75419 CDC45_HUMAN cell division cycle 45 414 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 CAAGCTGTACCATGGCCTGGA 0.527000 20 30 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24349415 24349415 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:24349415G>A ENST00000175238.6 + 14 1439 c.e14-1 RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTCCTCAACAGATAAAAAAAG 0.423000 13 17 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133438182 133438182 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:133438182G>A ENST00000266880.7 - 7 721 c.658C>T c.(658-660)Ccc>Tcc p.P220S CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.P208S|CHFR_ENST00000432561.2_Missense_Mutation_p.P220S|CHFR_ENST00000315585.7_Missense_Mutation_p.P179S|CHFR_ENST00000443047.2_Missense_Mutation_p.P128S Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 220 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GCCACAGAGGGACCACTTCCT 0.537000 10 31 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42110405 42110405 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:42110405C>T ENST00000457542.2 + 18 2280 c.1994C>T c.(1993-1995)cCc>cTc p.P665L MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P665L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P504L|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P548L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P671L NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 671 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CAGACAGACCCCTCAGGGATC 0.582000 12 64 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021148 5021148 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:5021148G>A ENST00000321543.1 + 1 936 c.936G>A c.(934-936)agG>agA p.R312R NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGTCCTAAGGAGGAGGTTTT 0.403000 7 59 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151672175 151672175 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:151672175G>A ENST00000402676.2 + 4 2889 c.2649G>A c.(2647-2649)gaG>gaA p.E883E AKAP12_ENST00000354675.6_Silent_p.E785E|AKAP12_ENST00000253332.1_Silent_p.E883E|AKAP12_ENST00000359755.5_Silent_p.E778E NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 883 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TGTCCAAGGAGCTCAGCGAGA 0.527000 57 32 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011274 160011274 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:160011274C>T ENST00000368089.3 - 2 1275 c.1049G>A c.(1048-1050)gGa>gAa p.G350E KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 350 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTCAGGGTCTCCGTAGCGTAC 0.507000 7 67 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76731877 76731877 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:76731877C>T ENST00000369950.3 - 6 811 c.622G>A c.(622-624)Gaa>Aaa p.E208K IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 208 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCGAGAATTTCATTGAGGAGG 0.398000 26 34 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140946619 140946619 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:140946619C>T ENST00000277549.5 + 26 3943 c.1374C>T c.(1372-1374)atC>atT p.I458I CACNA1B_ENST00000277551.2_Silent_p.I1262I|CACNA1B_ENST00000371355.4_Silent_p.I1263I|CACNA1B_ENST00000371357.1_Silent_p.I1263I|CACNA1B_ENST00000371363.1_Silent_p.I1262I|CACNA1B_ENST00000371372.1_Silent_p.I1262I Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1262 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCAAGACCATCAAACGGCTGC 0.537000 3 13 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73357695 73357695 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:73357695C>T ENST00000326291.6 + 2 426 c.88C>T c.(88-90)Cct>Tct p.P30S NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 30 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AACAACAGTTCCTACGGATGA 0.343000 60 62 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641898 106641898 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:106641898C>T ENST00000390605.2 - 0 105 TGGGTGAAGTCTCACATGACT 0.587000 32 84 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5039137 5039137 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:5039137C>T ENST00000574788.1 + 17 2808 c.578C>T c.(577-579)aCc>aTc p.T193I USP6_ENST00000332776.4_Missense_Mutation_p.T193I|USP6_ENST00000250066.6_Missense_Mutation_p.T193I|USP6_ENST00000304328.5_5'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 193 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGCCACATCACCGCCTTGTTC 0.607000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 25 141 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176309025 176309025 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:176309025C>T ENST00000292432.5 - 16 2248 c.2157G>A c.(2155-2157)ggG>ggA p.G719G NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 719 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCCATCGTCCCCAAAGGCGC 0.647000 55 80 0 0 1 0 0 GPR152 390212 broad.mit.edu 37 11 67219093 67219093 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:67219093G>A ENST00000312457.2 - 1 1107 c.1103C>T c.(1102-1104)tCg>tTg p.S368L NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 368 integral to membrane|plasma membrane G-protein coupled receptor activity p.S368L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TGTGGGATCCGATCGTGGCTG 0.622000 9 42 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586852 42586852 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:42586852C>T ENST00000289957.2 + 5 530 c.402C>T c.(400-402)atC>atT p.I134I NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 134 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.I134I(1) endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCAAGGTCATCGTGAAATCAA 0.532000 10 44 0 0 1 0 0 POU4F3 5459 broad.mit.edu 37 5 145719650 145719650 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:145719650G>A ENST00000230732.4 + 2 749 c.660G>A c.(658-660)gtG>gtA p.V220V CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 220 POU-specific. sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCCGGCGTGGGCTCGCTGA 0.632000 20 75 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14417516 14417516 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr21:14417516G>A ENST00000507941.1 + 0 128 TGGCCATAAGGAAAAGAAGTG 0.289000 4 30 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89733188 89733188 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:89733188G>A ENST00000343435.5 - 5 876 c.340C>T c.(340-342)Cag>Tag p.Q114* GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q114*|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 114 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) GCAAAGATCTGGATATCATTC 0.403000 49 10 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651947 96651947 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:96651947G>A ENST00000302103.5 + 3 1242 c.916G>A c.(916-918)Gac>Aac p.D306N NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 306 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GAAGGAAGTCGACAAAAACAA 0.368000 21 27 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713786 142713786 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:142713786C>T ENST00000369381.2 - 0 819 TGTCATTTTTCATTGTGCATA 0.289000 43 51 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327326 57327326 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:57327326C>T ENST00000326441.9 - 10 2847 c.2484G>A c.(2482-2484)agG>agA p.R828R ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R702R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.R828R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.R704R|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 828 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TACTGTATTCCCTTCCTTCAG 0.453000 21 143 0 0 1 0 0 RP11-565P22.6 0 broad.mit.edu 37 1 162351847 162351847 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:162351847G>A ENST00000431696.1 + 3 483 c.483G>A c.(481-483)aaG>aaA p.161_161insK C1orf226_ENST00000426197.2_Silent_p.K95K|C1orf226_ENST00000458626.2_Silent_p.K52K AGCACCTCAAGAACCTGGGCA 0.637000 9 30 0 0 1 0 0 LOC344967 344967 broad.mit.edu 37 4 40045124 40045124 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:40045124C>T ENST00000381811.2 - 0 1025 NR_027277.1 CCGGCGACCTCGTCCATGACC 0.552000 7 12 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219603529 219603529 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:219603529G>A ENST00000392102.1 + 3 1470 c.1130G>A c.(1129-1131)aGg>aAg p.R377K TTLL4_ENST00000258398.4_Missense_Mutation_p.R377K|TTLL4_ENST00000457313.1_Missense_Mutation_p.R212K|TTLL4_ENST00000442769.1_Missense_Mutation_p.R377K NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 377 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AACAGGAGCAGGCGGTGGAAA 0.572000 24 90 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237955555 237955555 + Silent SNP T T C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:237955555T>C ENST00000366574.2 + 94 14031 c.13714T>C c.(13714-13716)Ttg>Ctg p.L4572L RYR2_ENST00000360064.6_Silent_p.L4578L|RYR2_ENST00000542537.1_Silent_p.L4556L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4572 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L4570L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAGCCCACGTTGCGTATCTT 0.463000 8 38 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8234291 8234291 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:8234291G>A ENST00000520004.1 - 3 1892 c.1628C>T c.(1627-1629)cCc>cTc p.P543L SGK223_ENST00000330777.4_Missense_Mutation_p.P543L Q86YV5 SG223_HUMAN 543 ATP binding|non-membrane spanning protein tyrosine kinase activity p.P543L(1) CAACTTGGGGGGAATGGCGGG 0.632000 9 59 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101528919 101528919 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:101528919C>T ENST00000284395.5 + 6 905 c.505C>T c.(505-507)Ctg>Ttg p.L169L LRRK1_ENST00000532029.2_Silent_p.L172L|LRRK1_ENST00000388948.3_Silent_p.L172L Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 172 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTGAAGCTCCTGGTCCTGAC 0.632000 13 95 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53070082 53070082 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:53070082G>A ENST00000252244.3 - 7 1510 c.1452C>T c.(1450-1452)acC>acT p.T484T NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 484 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CCTCCAGGAGGGTCCTGTAGG 0.567000 10 33 0 0 1 0 0 LCE1B 353132 broad.mit.edu 37 1 152784986 152784986 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:152784986C>T ENST00000360090.3 + 1 540 c.64C>T c.(64-66)Ccc>Tcc p.P22S NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 22 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) caagtgccctcccaagtgccT 0.617000 51 173 0 0 1 0 0 VRK1 7443 broad.mit.edu 37 14 97313674 97313674 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:97313674G>A ENST00000216639.3 + 5 516 c.367G>A c.(367-369)Gga>Aga p.G123R NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 123 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) TGACAAAAATGGAAAAAGGTA 0.353000 17 25 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774449 89774449 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:89774449G>A ENST00000448984.1 + 8 1419 c.1090G>A c.(1090-1092)Gag>Aag p.E364K TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 364 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 GTATCGGAAGGAGAAGAATCA 0.448000 22 71 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546516 11546516 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:11546516C>T ENST00000389362.4 - 3 531 c.496G>A c.(496-498)Gga>Aga p.G166R PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTTGTCTCCTTGTGGGGGT 0.607000 95 550 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650729 146650729 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:146650729G>A ENST00000607149.1 + 0 350 TCGCGTGATGGGAATGCTCTG 0.478000 29 177 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539360 56539360 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:56539360C>T ENST00000390649.3 + 7 1761 c.1761C>T c.(1759-1761)ctC>ctT p.L587L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 587 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACCTCAGTCTCCAGGACTTCT 0.542000 5 41 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31092700 31092700 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:31092700C>T ENST00000394979.2 + 1 5478 c.5055C>T c.(5053-5055)tcC>tcT p.S1685S ZNF646_ENST00000300850.5_Silent_p.S1685S O15015 ZN646_HUMAN zinc finger protein 646 1685 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GCGGGCGCTCCTACCGCCATG 0.642000 27 117 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12647621 12647621 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:12647621C>T ENST00000425538.1 + 8 1039 c.839C>T c.(838-840)cCa>cTa p.P280L MYOCD_ENST00000395988.1_Missense_Mutation_p.P184L|MYOCD_ENST00000343344.4_Missense_Mutation_p.P280L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 280 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AAGTCCCCTCCACCTATGGAC 0.552000 40 46 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88873512 88873512 + Silent SNP C C T rs143599393 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:88873512C>T ENST00000301019.4 + 8 1795 c.1176C>T c.(1174-1176)ccC>ccT p.P392P NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 392 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CCAGCAGCCCCGGGTCTCCCA 0.667000 6 46 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181706660 181706660 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:181706660G>A ENST00000526775.1 + 22 3530 c.e22-1 CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACTGCCCGCAGGATCCGGAGG 0.622000 16 44 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91827351 91827351 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:91827351C>T ENST00000394232.1 + 11 2078 c.1608C>T c.(1606-1608)ttC>ttT p.F536F SV2B_ENST00000545111.2_Silent_p.F385F|SV2B_ENST00000330276.4_Silent_p.F536F NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 536 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) ATAATGACTTCCTGATTTACC 0.498000 91 81 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170959143 170959143 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:170959143G>A ENST00000367759.4 + 11 1181 c.1028_splice c.e11+1 p.D343_splice MROH9_ENST00000367758.3_Splice_Site_p.D343_splice NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TCCAGCAGACGAGTAAGGCCC 0.488000 18 53 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61997128 61997128 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:61997128C>T ENST00000332981.5 + 12 1961 c.1576C>T c.(1576-1578)Ctc>Ttc p.L526F RP11-47I22.4_ENST00000556347.1_Silent_p.S30S|PRKCH_ENST00000555082.1_Missense_Mutation_p.L365F NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 526 Protein kinase. 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) TGCACAGATCCTCCAGGAAAT 0.478000 26 139 0 0 1 0 0 ZNF526 116115 broad.mit.edu 37 19 42729964 42729964 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:42729964G>A ENST00000301215.3 + 3 1634 c.1409G>A c.(1408-1410)cGg>cAg p.R470Q NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) CCCCCTGAACGGCGTCACCGC 0.667000 21 102 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42340052 42340052 + Missense_Mutation SNP C C T rs56366151 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:42340052C>T ENST00000262418.6 - 3 213 c.58G>A c.(58-60)Gaa>Aaa p.E20K AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 20 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTTCATATTCCTCCTGCTCC 0.597000 25 26 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44030985 44030985 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:44030985C>T ENST00000262726.7 - 18 2348 c.2095G>A c.(2095-2097)Gaa>Aaa p.E699K EFCAB6_ENST00000396231.2_Missense_Mutation_p.E547K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 699 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TAGCTACCTTCAAATCCTGCT 0.527000 17 33 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124761448 124761448 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:124761448C>T ENST00000306534.3 - 12 2180 c.1695G>A c.(1693-1695)tgG>tgA p.W565* RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Nonsense_Mutation_p.W420* NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 565 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TTCGGGAGTCCCAGGAGAGCA 0.597000 22 62 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97096831 97096831 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:97096831G>A ENST00000371247.2 - 30 3275 c.3086C>T c.(3085-3087)cCc>cTc p.P1029L SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1029L|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P983L|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000607232.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1029 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AGACAGGGAGGGACTGGCCCT 0.592000 5 31 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677960 100677960 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:100677960G>A ENST00000306151.4 + 3 3327 c.3263G>A c.(3262-3264)gGt>gAt p.G1088D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1088 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) ACTGCTGACGGTACCAGCATG 0.507000 139 843 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33603426 33603426 + Missense_Mutation SNP T T G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:33603426T>G ENST00000170564.2 + 13 2113 c.1799T>G c.(1798-1800)aTg>aGg p.M600R NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 600 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GCTGTGAAGATGAAGATGTTT 0.478000 22 123 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76877191 76877191 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:76877191C>T ENST00000409709.3 + 15 2052 c.1780C>T c.(1780-1782)Cag>Tag p.Q594* MYO7A_ENST00000409893.1_Nonsense_Mutation_p.Q594*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.Q583*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.Q594* NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 594 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCAGATCTTCCAGGCCGATGT 0.592000 8 20 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14613452 14613452 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:14613452C>T ENST00000544627.1 + 9 2526 c.2206C>T c.(2206-2208)Cct>Tct p.P736S ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P728S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P727S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P728S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P727S Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 728 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TCTTGTCACTCCTCCAGCAGT 0.393000 26 174 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 65957041 65957041 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:65957041G>A ENST00000443035.3 - 31 5591 c.5376C>T c.(5374-5376)gtC>gtT p.V1792V DENND4A_ENST00000431932.2_Silent_p.V1749V NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GCAATAAATGGACCATTGGAT 0.333000 4 34 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62321443 62321443 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:62321443C>T ENST00000318100.4 + 25 2972 c.2145C>T c.(2143-2145)ttC>ttT p.F715F RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000508582.2_Silent_p.F739F|RTEL1_ENST00000370018.3_Silent_p.F715F|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.F715F|RTEL1_ENST00000360203.5_Silent_p.F715F Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 715 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCCCCAGGTTCGCCTTTGCCG 0.632000 16 157 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913089 6913089 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:6913089G>A ENST00000299459.2 - 1 741 c.643C>T c.(643-645)Ctg>Ttg p.L215L NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TAGGATACCAGAATCAGAAAA 0.468000 44 33 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325157 79325157 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:79325157G>A ENST00000428286.1 - 8 2156 c.956C>T c.(955-957)tCt>tTt p.S319F PRUNE2_ENST00000376718.3_Missense_Mutation_p.S678F Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 678 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGGAAAACAGATTCCTGTTC 0.483000 31 14 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30664295 30664295 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:30664295C>T ENST00000542965.2 + 4 831 c.375C>T c.(373-375)tcC>tcT p.S125S PRR14_ENST00000300835.4_Silent_p.S125S Q9BWN1 PRR14_HUMAN proline rich 14 125 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) GGACCTCTTCCACCCTGAGGC 0.637000 21 58 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69358793 69358793 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:69358793G>A ENST00000193403.6 - 10 1446 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S ACTN1_ENST00000538545.2_Missense_Mutation_p.P355S|ACTN1_ENST00000394419.4_Missense_Mutation_p.P355S|ACTN1_ENST00000376839.3_Missense_Mutation_p.P290S|ACTN1_ENST00000438964.2_Missense_Mutation_p.P355S NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 355 Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCCTCAGAGGGCATGAAGGCA 0.617000 14 28 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071881 17071881 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:17071881G>A ENST00000359963.3 - 1 1819 c.1560C>T c.(1558-1560)atC>atT p.I520I NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 520 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGCCACTACGATTTCATCTA 0.488000 35 163 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801778 185801778 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:185801778C>T ENST00000302277.6 + 4 2249 c.1655C>T c.(1654-1656)tCc>tTc p.S552F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 552 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAAAACATTTCCTGTAAGATC 0.338000 36 8 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292869 33292869 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:33292869G>A ENST00000280979.4 + 13 6020 c.5850G>A c.(5848-5850)aaG>aaA p.K1950K AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1950 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGCTGGCAAGGAATTTGTTT 0.383000 32 54 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31659452 31659452 + Silent SNP A A G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:31659452A>G ENST00000375842.4 - 9 1076 c.90T>C c.(88-90)aaT>aaC p.N30N XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.N216N|ABHD16A_ENST00000395952.3_Silent_p.N249N O95870 ABHGA_HUMAN abhydrolase domain containing 16A 249 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CCCGGCGCCCATTACACTGAG 0.617000 7 54 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12318066 12318066 + Missense_Mutation SNP T T A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:12318066T>A ENST00000261349.4 - 8 1785 c.1709A>T c.(1708-1710)gAt>gTt p.D570V LRP6_ENST00000543091.1_Missense_Mutation_p.D570V NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 570 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AGGCAGCTGATCTATGATCAC 0.438000 94 146 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42141922 42141922 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:42141922C>T ENST00000401548.3 + 14 1612 c.1572C>T c.(1570-1572)gcC>gcT p.A524A MEI1_ENST00000540833.1_Silent_p.A264A|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 524 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AGCCTTCAGCCCAGGAGAATC 0.478000 6 39 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42244009 42244009 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:42244009C>T ENST00000327628.5 + 13 1909 c.1509C>T c.(1507-1509)tcC>tcT p.S503S TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.S429S|TRAK1_ENST00000341421.3_Silent_p.S445S|TRAK1_ENST00000396175.1_Silent_p.S445S NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 503 Interaction with HGS. S -> P (in Ref. 2; CAH56169). endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 GGCGGCTGTCCCTGCGCCGGG 0.652000 46 29 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69030872 69030872 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:69030872G>A ENST00000288368.4 + 27 3691 c.3414G>A c.(3412-3414)atG>atA p.M1138I NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1138 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTGATGAAATGGACTCAGGTG 0.428000 36 72 0 0 1 0 0 GJC3 349149 broad.mit.edu 37 7 99521204 99521204 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:99521204C>T ENST00000312891.2 - 2 803 c.804G>A c.(802-804)caG>caA p.Q268Q NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 268 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) tttgtttttcctgggctaagc 0.423000 9 65 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830648 830648 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:830648G>A ENST00000293892.3 - 3 352 c.353C>T c.(352-354)cCt>cTt p.P118L MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 AGTGTGCACAGGTAGGTGACA 0.567000 85 89 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138854082 138854082 + Silent SNP A A T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:138854082A>T ENST00000464848.1 + 12 1133 c.1053A>T c.(1051-1053)ggA>ggT p.G351G TTC26_ENST00000343187.4_Silent_p.G320G|TTC26_ENST00000495038.1_Silent_p.G220G|TTC26_ENST00000478836.2_Silent_p.G244G|TTC26_ENST00000430935.1_Silent_p.G351G A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 351 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TGGTGGGAGGATCAGCTAGTG 0.378000 5 106 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153944401 153944401 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:153944401G>A ENST00000369575.3 - 2 307 c.276C>T c.(274-276)tcC>tcT p.S92S GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.S92S NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 92 PH. NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGAATGTACGGGAAGTAGTCT 0.507000 119 22 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134878093 134878093 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:134878093G>A ENST00000354475.4 - 11 1580 c.1549C>T c.(1549-1551)Ccg>Tcg p.P517S WDR91_ENST00000423565.1_Missense_Mutation_p.P482S|WDR91_ENST00000344400.5_Missense_Mutation_p.P517S NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 517 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GTGAGGCTCGGAGCTGCTGCC 0.607000 14 115 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88301126 88301126 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:88301126C>T ENST00000418177.2 - 8 2092 c.1725G>A c.(1723-1725)tgG>tgA p.W575* GRM5_ENST00000305432.5_Nonsense_Mutation_p.W575*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.W575*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.W575*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.W575* P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 575 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CAGGGTCACCCCATCGAAGAT 0.488000 3 15 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6690364 6690364 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:6690364G>A ENST00000518724.1 - 0 267 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) GGACAGCAAGGGCCAGCCACC 0.607000 17 23 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60768369 60768369 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:60768369G>A ENST00000303375.5 + 28 4474 c.4072G>A c.(4072-4074)Ggc>Agc p.G1358S MRC2_ENST00000446119.2_Missense_Mutation_p.G224S NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1358 C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGGGCCCCCGGGCTTGGGCCC 0.622000 5 24 0 0 1 0 0 OR52W1 120787 broad.mit.edu 37 11 6220759 6220759 + Silent SNP C C T rs141444024 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:6220759C>T ENST00000311352.2 + 1 384 c.306C>T c.(304-306)tgC>tgT p.C102C NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTGTGTGCCTGGTCCAGA 0.582000 4 54 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111368020 111368020 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:111368020C>T ENST00000375774.3 + 1 692 c.230C>T c.(229-231)tCt>tTt p.S77F ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 77 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GGGCCGTGCTCTTCCGCCCTG 0.672000 8 22 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51224657 51224657 + Missense_Mutation SNP T T C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:51224657T>C ENST00000245441.5 - 18 3281 c.3091A>G c.(3091-3093)Atg>Gtg p.M1031V NIN_ENST00000324330.9_Missense_Mutation_p.M1031V|NIN_ENST00000530997.2_Missense_Mutation_p.M1031V|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.M1031V|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.M1031V NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1031 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CTCTGAAGCATTGAGAGAGGA 0.507000 T PDGFRB MPD 7 177 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903888 4903888 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:4903888C>T ENST00000380378.1 + 1 840 c.840C>T c.(838-840)ttC>ttT p.F280F MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F253F|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCACTATTTTCTATGTGCCAC 0.498000 13 64 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48556389 48556389 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:48556389C>T ENST00000435803.1 + 52 13733 c.13709C>T c.(13708-13710)tCc>tTc p.S4570F ABCA13_ENST00000544596.1_Missense_Mutation_p.S300F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4570 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCTTTCATTTCCTATGTCTCA 0.408000 124 101 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59924472 59924472 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:59924472G>A ENST00000259008.2 - 6 884 c.617C>T c.(616-618)tCg>tTg p.S206L BRIP1_ENST00000577598.1_Missense_Mutation_p.S206L NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 206 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TTTCTGTGGCGAAAAGGAGTT 0.333000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 28 49 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535776 90535776 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:90535776G>A ENST00000602681.1 + 0 1680 CCCGCCAAAGGGACACCACAA 0.552000 145 159 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519319 84519319 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:84519319C>T ENST00000395226.2 + 11 1330 c.1112C>T c.(1111-1113)cCc>cTc p.P371L AGPAT9_ENST00000264409.4_Missense_Mutation_p.P371L NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 371 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) TACATGCCCCCCATGACCAGA 0.473000 11 89 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004708 52004708 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:52004708G>A ENST00000291707.3 - 1 335 c.280C>T c.(280-282)Cac>Tac p.H94Y NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 94 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCAAGGAGGTGGAATCGGTCC 0.552000 82 134 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106865239 106865239 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:106865239C>T ENST00000369701.3 + 7 1405 c.1178C>T c.(1177-1179)tCc>tTc p.S393F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 393 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GACATCAGTTCCCTGGTTGTC 0.498000 19 61 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113163263 113163263 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:113163263G>A ENST00000401783.2 - 40 10029 c.9693C>T c.(9691-9693)ttC>ttT p.F3231F SVEP1_ENST00000297826.5_Silent_p.F1157F|SVEP1_ENST00000374469.1_Silent_p.F3208F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3231 Sushi 30. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATTCATCGGAGAATGGTGGCT 0.358000 30 11 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165546 151165546 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:151165546C>T ENST00000282466.3 - 4 2222 c.2223G>A c.(2221-2223)agG>agA p.R741R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 741 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGAAATGCCTCCTATTCTCCC 0.463000 19 29 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248547 20248547 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:20248547G>A ENST00000315957.4 + 1 147 c.66G>A c.(64-66)gaG>gaA p.E22E NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGACTCGGGAGGTCCAACTAG 0.378000 65 108 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109271407 109271407 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:109271407C>T ENST00000370017.3 + 8 1800 c.1523C>T c.(1522-1524)aCc>aTc p.T508I FNDC7_ENST00000271311.2_Missense_Mutation_p.T509I NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 509 Fibronectin type-III 6. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GAGTCCTGCACCATGCGGGGC 0.572000 16 76 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45303830 45303830 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:45303830G>A ENST00000303230.4 - 6 1546 c.1489C>T c.(1489-1491)Caa>Taa p.Q497* NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 497 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 TCTCCAGGTTGAAACACCTCA 0.403000 27 125 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551905 100551905 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:100551905G>A ENST00000319509.7 + 1 656 c.656G>A c.(655-657)gGa>gAa p.G219E mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TTCACTAGGGGAAGTACGTCT 0.428000 120 742 0 0 1 0 0 ZNF32 7580 broad.mit.edu 37 10 44140135 44140135 + Missense_Mutation SNP G G A rs144676378 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:44140135G>A ENST00000395797.1 - 3 373 c.185C>T c.(184-186)tCg>tTg p.S62L ZNF32_ENST00000374433.2_Missense_Mutation_p.S62L|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS1_ENST00000453284.1_RNA NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.S62L(3) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) TAGTGTCTTCGAATCTGGGGA 0.458000 26 108 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159687216 159687216 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:159687216C>T ENST00000297267.9 + 21 5585 c.5385C>T c.(5383-5385)ttC>ttT p.F1795F FNDC1_ENST00000340366.6_Silent_p.F1732F NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1795 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ATCGAAAGTTCGTGGGAGTTG 0.473000 17 51 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062786 76062786 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:76062786G>A ENST00000416245.1 + 3 1100 c.e3-1 ZP3_ENST00000394857.3_Splice_Site|ZP3_ENST00000336517.4_Splice_Site P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 GTGTCTTTCAGAGAACTGGAA 0.597000 21 114 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905370 1905370 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:1905370C>T ENST00000518288.1 + 30 4211 c.4048C>T c.(4048-4050)Cac>Tac p.H1350Y ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H1288Y|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H1351Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H1322Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H1326Y|ARHGEF10_ENST00000521927.1_3'UTR O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1351 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) CCGGCAGCCCCACCAGGAAGA 0.632000 8 12 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167626914 167626914 + Missense_Mutation SNP C C T rs113287543 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:167626914C>T ENST00000519204.1 + 16 2963 c.2845C>T c.(2845-2847)Cgc>Tgc p.R949C TENM2_ENST00000520394.1_Missense_Mutation_p.R838C|TENM2_ENST00000518659.1_Missense_Mutation_p.R1070C|TENM2_ENST00000403607.2_Missense_Mutation_p.R894C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1070C teneurin transmembrane protein 2 TGTGAAACTTCGCTATCTGAG 0.493000 35 145 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442574 25442574 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:25442574G>A ENST00000424208.1 + 0 1550 SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CTGGCCCCGGGAAAATGTCCC 0.602000 21 36 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208462 140208462 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140208462C>T ENST00000529310.1 + 1 900 c.786C>T c.(784-786)atC>atT p.I262I PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I262I|PCDHA4_ENST00000530339.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.I262I(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACAGTTATCAGACTGAATG 0.413000 75 92 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117655918 117655918 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:117655918C>T ENST00000317775.6 - 28 4907 c.4222G>A c.(4222-4224)Gaa>Aaa p.E1408K NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E1442K NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1408 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTGGTCACTTCGTACGTTCGC 0.488000 225 56 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12976551 12976551 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:12976551G>A ENST00000251472.4 + 16 1864 c.1825G>A c.(1825-1827)Ggg>Agg p.G609R NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 609 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GTGGCCCGAGGGGGATGAGGC 0.557000 15 81 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133044233 133044233 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:133044233C>T ENST00000262283.5 - 16 1661 c.1562G>A c.(1561-1563)gGa>gAa p.G521E OC90_ENST00000443356.2_Missense_Mutation_p.G325E|OC90_ENST00000603859.1_Missense_Mutation_p.G309E|OC90_ENST00000254627.3_Missense_Mutation_p.G309E Q02509 OC90_HUMAN otoconin 90 325 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAGCATCTCTCCAAGCTGTGG 0.522000 22 47 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835041 27835041 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:27835041G>A ENST00000331442.3 - 1 318 c.267C>T c.(265-267)agC>agT p.S89S NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 89 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TGCTCACCAAGCTCTTGAGGC 0.577000 237 84 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31415947 31415947 + Silent SNP G G A rs138635070 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:31415947G>A ENST00000225823.2 - 3 1793 c.921C>T c.(919-921)ttC>ttT p.F307F ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.F256F NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 256 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCTCTTGGATGAAAGGTGGCT 0.532000 6 53 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50161586 50161586 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:50161586C>T ENST00000360565.3 + 11 3993 c.3869C>T c.(3868-3870)cCc>cTc p.P1290L NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1290 Necessary for interaction with the CTD domain of POLR2A.|Pro-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCCCCAGGGCCCCCACGGCCG 0.701000 8 5 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352661 58352661 + Missense_Mutation SNP T T A rs148810844 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:58352661T>A ENST00000442832.4 + 3 853 c.619T>A c.(619-621)Ttt>Att p.F207I ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 207 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.F207I(1) TGTGTCTCCCTTTCAGTGTGG 0.493000 5 58 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94053707 94053707 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:94053707C>T ENST00000297268.6 + 41 3096 c.2625C>T c.(2623-2625)ctC>ctT p.L875L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 875 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTCTGGGTCTCCCTGGCTCGA 0.468000 HNSCC(75;0.22) 16 151 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83434050 83434050 + Splice_Site SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:83434050C>T ENST00000334574.8 - 11 1869 c.1687_splice c.e11-1 p.G563_splice FSD2_ENST00000541889.1_Splice_Site_p.G518_splice A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 563 B30.2/SPRY. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 AAAGTAGCTTCCTGTGGGAGG 0.547000 21 24 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37975717 37975717 + Missense_Mutation SNP A A C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:37975717A>C ENST00000330173.1 + 5 1722 c.1193A>C c.(1192-1194)aAt>aCt p.N398T ZNF570_ENST00000586475.1_Missense_Mutation_p.N454T|ZNF570_ENST00000388801.3_Missense_Mutation_p.N195T NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTAGCCAGAATTCACACCTT 0.423000 54 68 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37707543 37707543 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:37707543C>T ENST00000539465.1 + 3 825 c.232C>T c.(232-234)Ccc>Tcc p.P78S FRMPD1_ENST00000377765.3_Missense_Mutation_p.P78S|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 78 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TGAGAGCCTTCCCCTTACAGT 0.502000 28 79 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680389 114680389 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:114680389G>A ENST00000393296.1 - 3 876 c.799C>T c.(799-801)Cct>Tct p.P267S SYT6_ENST00000369547.1_Missense_Mutation_p.P182S Q5T7P8 SYT6_HUMAN synaptotagmin VI 267 C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGACATAAGGGTCAGAGCTT 0.532000 19 86 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61757427 61757427 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:61757427G>A ENST00000423902.2 + 22 5334 c.4855G>A c.(4855-4857)Gga>Aga p.G1619R CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1619 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTGCAGTTGGGGACGGTGGAC 0.468000 13 28 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 21962837 21962837 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:21962837C>T ENST00000377072.3 + 11 1958 c.1610C>T c.(1609-1611)cCa>cTa p.P537L MLLT10_ENST00000377059.3_Missense_Mutation_p.P537L|MLLT10_ENST00000307729.7_Missense_Mutation_p.P537L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P537L NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 537 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GGCTCATCTCCAGTTGGTTCA 0.448000 T """MLL, PICALM, CDK6""" AL 8 41 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650730 146650730 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:146650730G>A ENST00000607149.1 + 0 350 CGCGTGATGGGAATGCTCTGG 0.478000 29 175 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100463150 100463150 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:100463150C>T ENST00000326581.4 + 9 1326 c.964C>T c.(964-966)Cct>Tct p.P322S NM_032149.2 NP_115525.2 Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 322 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) ACCAAATTCTCCTCCCAGGCC 0.408000 37 44 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42141921 42141921 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:42141921C>T ENST00000401548.3 + 14 1611 c.1571C>T c.(1570-1572)gCc>gTc p.A524V MEI1_ENST00000540833.1_Missense_Mutation_p.A264V|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 524 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GAGCCTTCAGCCCAGGAGAAT 0.483000 7 40 0 0 1 0 0 CPEB1 64506 broad.mit.edu 37 15 83224829 83224829 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:83224829G>A ENST00000563800.1 - 5 2456 c.731C>T c.(730-732)tCa>tTa p.S244L CPEB1_ENST00000568757.1_Missense_Mutation_p.S142L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.S217L|CPEB1_ENST00000562019.1_Missense_Mutation_p.S217L|CPEB1_ENST00000450751.2_Missense_Mutation_p.S142L|CPEB1_ENST00000423133.2_Missense_Mutation_p.S142L|CPEB1_ENST00000398591.2_Missense_Mutation_p.S142L|CPEB1_ENST00000398592.2_5'UTR|CPEB1_ENST00000261723.6_Missense_Mutation_p.S220L|CPEB1_ENST00000564522.1_Missense_Mutation_p.S142L Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 217 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) ACCACCCCCTGACAGAGACAG 0.512000 5 25 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129195306 129195306 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:129195306C>T ENST00000296266.3 + 11 1310 c.1118C>T c.(1117-1119)tCc>tTc p.S373F IFT122_ENST00000347300.2_Missense_Mutation_p.S263F|IFT122_ENST00000507564.1_Missense_Mutation_p.S314F|IFT122_ENST00000440957.2_Missense_Mutation_p.S113F|IFT122_ENST00000431818.2_Missense_Mutation_p.S172F|IFT122_ENST00000504021.1_Missense_Mutation_p.S216F|IFT122_ENST00000349441.2_Missense_Mutation_p.S211F|IFT122_ENST00000348417.2_Missense_Mutation_p.S322F NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 322 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GAGCAGAACTCCTGGGTGTGG 0.512000 19 121 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 587429 587429 + Missense_Mutation SNP T T G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:587429T>G ENST00000264555.5 + 4 513 c.385T>G c.(385-387)Tac>Gac p.Y129D PHRF1_ENST00000413872.2_Missense_Mutation_p.Y128D|PHRF1_ENST00000416188.2_Missense_Mutation_p.Y129D|PHRF1_ENST00000533464.1_Missense_Mutation_p.Y125D NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 129 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CTGTGCCCATTACTTCTGCCT 0.547000 31 70 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16527755 16527755 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:16527755C>T ENST00000311331.7 - 6 536 c.445G>A c.(445-447)Gag>Aag p.E149K NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGTATGGCCTCCTGTGATAAA 0.393000 19 111 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412232 51412232 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:51412232G>A ENST00000319760.6 - 1 216 c.164C>T c.(163-165)tCc>tTc p.S55F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 55 GSP -> CSA (in Ref. 1; BAC05754). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ATACATTGGGGAACCCAAGGA 0.408000 15 45 0 0 1 0 0 NBR2 10230 broad.mit.edu 37 17 41297029 41297029 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:41297029G>A ENST00000460115.1 + 0 1243 NR_003108.1 AGCCCAAGAGGAGATCAGCGC 0.542000 3 23 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11394176 11394176 + Splice_Site SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:11394176C>T ENST00000227756.4 - 6 1389 c.977_splice c.e6-1 p.R326_splice NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GGGCAGGGCTCCTGCAGGGGC 0.597000 26 22 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41482192 41482192 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:41482192C>T ENST00000314992.5 - 9 1015 c.825G>A c.(823-825)gtG>gtA p.V275V EXD1_ENST00000458580.2_Silent_p.V333V NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 275 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 GGTAACCATCCACCAGGGTGG 0.527000 21 93 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2211110 2211110 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:2211110C>T ENST00000398665.3 + 15 1400 c.1364C>T c.(1363-1365)tCc>tTc p.S455F NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 455 RSPHSPFYQLPPSV -> TLRTPSGSPRRTKL (in Ref. 3). nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTACAGATCCCCTCACAGC 0.697000 47 81 0 0 1 0 0 UBXN1 51035 broad.mit.edu 37 11 62445419 62445419 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:62445419C>T ENST00000294119.2 - 5 593 c.462G>A c.(460-462)aaG>aaA p.K154K UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Silent_p.K12K|UBXN1_ENST00000301935.5_Silent_p.K154K|UBXN1_ENST00000529640.1_Silent_p.K154K NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 154 Interaction with BRCA1. K -> N (in Ref. 1; AAA36396). negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 ACTCCTCGGCCTTTTCCCTCC 0.532000 11 39 0 0 1 0 0 TGIF1 7050 broad.mit.edu 37 18 3452058 3452058 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr18:3452058C>T ENST00000330513.5 + 1 384 c.81C>T c.(79-81)tcC>tcT p.S27S TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 27 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GCTCTGATTCCTTTCCATGGC 0.667000 42 41 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13868073 13868073 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:13868073C>T ENST00000265104.4 - 25 3967 c.3863G>A c.(3862-3864)gGa>gAa p.G1288E CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1288 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATCAGAAGTCCATATCTGTT 0.388000 Kartagener syndrome 5 63 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11642247 11642247 + Silent SNP C C T rs139063832 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:11642247C>T ENST00000262442.3 + 29 5933 c.5865C>T c.(5863-5865)ttC>ttT p.F1955F DNAH9_ENST00000454412.2_Silent_p.F1955F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1955 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGTTCAGCTTCCTTGGGGAGG 0.473000 13 89 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128489578 128489578 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:128489578C>T ENST00000325888.8 + 30 5406 c.5145C>T c.(5143-5145)gtC>gtT p.V1715V FLNC_ENST00000346177.6_Silent_p.V1715V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1715 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 GCAAGTACGTCATCACCATCC 0.597000 37 89 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063438 9063438 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9063438G>A ENST00000397910.4 - 3 24211 c.24008C>T c.(24007-24009)tCa>tTa p.S8003L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8005 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 CGTGAGGAGTGAAGTCACAGG 0.468000 13 72 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135510 55135510 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:55135510G>A ENST00000314706.3 + 1 151 c.151G>A c.(151-153)Ggg>Agg p.G51R NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GAACCCTGAGGGGCAAAAGGT 0.448000 17 54 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2138228 2138228 + Splice_Site SNP A A C rs137854251 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:2138228A>C ENST00000219476.3 + 41 5791 c.5160_splice c.e41-1 p.M1721_splice TSC2_ENST00000568454.1_Splice_Site_p.M1665_splice|TSC2_ENST00000439673.2_Splice_Site_p.M1618_splice|TSC2_ENST00000401874.2_Splice_Site_p.M1654_splice|TSC2_ENST00000350773.4_Splice_Site_p.M1698_splice|TSC2_ENST00000353929.4_Splice_Site_p.M1678_splice|TSC2_ENST00000382538.6_Splice_Site_p.M1606_splice NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1721 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) ACGTCCCCAGATGGCCTCACA 0.647000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 117 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043101 74043101 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:74043101C>T ENST00000409561.1 + 3 1872 c.1751C>T c.(1750-1752)tCt>tTt p.S584F NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 584 Lys-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCCAAGAAATCTGAAGAGAGT 0.438000 7 19 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176830 223176830 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:223176830C>T ENST00000284476.6 + 8 2255 c.2091C>T c.(2089-2091)gcC>gcT p.A697A NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 697 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TACTCTTTGCCATTTCAGAAG 0.393000 19 179 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139906601 139906601 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:139906601G>A ENST00000265662.5 - 34 5460 c.5313C>T c.(5311-5313)acC>acT p.T1771T ABCA2_ENST00000371605.3_Silent_p.T1770T|ABCA2_ENST00000341511.6_Silent_p.T1771T Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1770 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGGGGTGGTTGGTGACGGTGA 0.721000 25 23 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122148 39122148 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:39122148C>T ENST00000216044.5 + 7 1444 c.1211C>T c.(1210-1212)tCc>tTc p.S404F GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 404 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) GACACCTACTCCGTCCCGGTA 0.592000 20 65 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48523019 48523019 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:48523019C>T ENST00000339841.2 + 5 577 c.399C>T c.(397-399)tcC>tcT p.S133S ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 133 Fibronectin type-II 3. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) TCTTCCCCTCCATCTACAGAA 0.458000 11 64 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432905 140432905 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140432905C>T ENST00000306549.3 + 1 1927 c.1850C>T c.(1849-1851)tCt>tTt p.S617F NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 617 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGTTATTTTCTGTTCAAAGA 0.433000 9 123 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651654 84651654 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:84651654G>A ENST00000286744.5 + 21 3498 c.3274G>A c.(3274-3276)Gat>Aat p.D1092N ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1092N NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1092 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ATATAGCATGGATACAGCCCA 0.473000 31 51 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9324798 9324798 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9324798G>A ENST00000308682.2 - 1 744 c.716C>T c.(715-717)tCc>tTc p.S239F NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TCCACAGGTGGAAAAGGCTTT 0.512000 44 55 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96058147 96058147 + Missense_Mutation SNP G G T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:96058147G>T ENST00000260766.3 + 24 5813 c.5179G>T c.(5179-5181)Ggc>Tgc p.G1727C PLCE1_ENST00000371385.3_Missense_Mutation_p.G1419C|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1419C|PLCE1_ENST00000371380.2_Missense_Mutation_p.G1727C NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1727 Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity). activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTCCTGTGAAGGCATTCGACA 0.428000 36 26 4.92203e-23 5.04292e-23 1 1 0 KCTD11 147040 broad.mit.edu 37 17 7256553 7256553 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:7256553C>T ENST00000333751.3 + 1 1346 c.292C>T c.(292-294)Ccc>Tcc p.P98S RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 98 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) AGATGTCAGCCCCCGCCTGGT 0.657000 14 62 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34238290 34238290 + Silent SNP G G T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:34238290G>T ENST00000373381.4 - 13 1902 c.1726C>A c.(1726-1728)Cgg>Agg p.R576R CSMD2_ENST00000338325.1_Silent_p.R184R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 536 Sushi 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGTGAAACCGGGAGCCTTCC 0.537000 13 73 1.52009e-12 1.55198e-12 1 1 0 MUC16 94025 broad.mit.edu 37 19 9058191 9058191 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9058191G>A ENST00000397910.4 - 3 29458 c.29255C>T c.(29254-29256)tCc>tTc p.S9752F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9754 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 AAGAGGAGAGGAGGGGCTACT 0.473000 13 60 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51200890 51200890 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:51200890G>A ENST00000293441.1 - 13 1911 c.1893C>T c.(1891-1893)ttC>ttT p.F631F SHANK1_ENST00000391814.1_Silent_p.F631F|SHANK1_ENST00000359082.3_Silent_p.F631F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 631 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TATAATGCCGGAAGAGTCTCT 0.537000 20 110 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113780266 113780266 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:113780266C>T ENST00000259213.4 - 6 587 c.480G>A c.(478-480)atG>atA p.M160I NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 160 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 TCCTTCCTGGCATTCCTATGT 0.423000 31 24 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5038536 5038536 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:5038536G>A ENST00000574788.1 + 16 2732 c.502G>A c.(502-504)Gaa>Aaa p.E168K USP6_ENST00000332776.4_Missense_Mutation_p.E168K|USP6_ENST00000250066.6_Missense_Mutation_p.E168K|USP6_ENST00000304328.5_5'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 168 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TAGGCAGAGGGAACTATTCTA 0.468000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 16 158 0 0 1 0 0 GZMM 3004 broad.mit.edu 37 19 549118 549118 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:549118G>A ENST00000264553.3 + 4 583 c.545G>A c.(544-546)tGg>tAg p.W182* NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308.1 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) 182 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCGCTTCTGGAACGGCAGC 0.701000 3 5 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67862711 67862711 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:67862711C>T ENST00000562787.1 - 14 1864 c.1316G>A c.(1315-1317)aGg>aAg p.R439K CENPT_ENST00000564817.1_Missense_Mutation_p.R384K|CENPT_ENST00000219172.3_Missense_Mutation_p.R439K|CENPT_ENST00000440851.2_Missense_Mutation_p.R439K NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 439 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AGGGGGATGCCTGACCAACAG 0.577000 15 85 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82833505 82833505 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:82833505C>T ENST00000265077.3 + 8 5248 c.4683C>T c.(4681-4683)gcC>gcT p.A1561A VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.A574A|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1561 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGAAAATAGCCTTTGCAAGGG 0.413000 15 63 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9225313 9225313 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:9225313G>A ENST00000318602.7 - 30 4218 c.3911C>T c.(3910-3912)tCa>tTa p.S1304L NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1304 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CTCTGGCAATGAGACCTGCTG 0.522000 113 109 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21913063 21913063 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:21913063G>A ENST00000328843.6 + 75 12191 c.12160G>A c.(12160-12162)Gaa>Aaa p.E4054K DNAH11_ENST00000409508.3_Missense_Mutation_p.E4047K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4054 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GATCACTAATGAACCCCCAAC 0.473000 Kartagener syndrome 7 79 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74593064 74593064 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:74593064G>A ENST00000361874.3 - 24 3159 c.2842C>T c.(2842-2844)Cga>Tga p.R948* DCTN1_ENST00000409240.1_Nonsense_Mutation_p.R911*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.R928*|DCTN1_ENST00000409868.1_Nonsense_Mutation_p.R931*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.R814*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.R814*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.R941* NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 948 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 ACTGTCTCTCGATCTTCGAGC 0.522000 30 105 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37364477 37364477 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:37364477G>A ENST00000231498.3 - 2 370 c.167C>T c.(166-168)aCc>aTc p.T56I NUP155_ENST00000381843.2_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.T56I NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 56 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCAGAAACGGTGGGATTATC 0.413000 5 47 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092834 147092834 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:147092834C>T ENST00000361727.3 + 10 2148 c.1632C>T c.(1630-1632)ttC>ttT p.F544F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 544 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.F544L(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGGGAAGTTTCGCGAATGTCA 0.438000 HNSCC(39;0.1) 27 294 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038281 37038281 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:37038281G>A ENST00000334116.7 - 6 1474 c.864C>T c.(862-864)ccC>ccT p.P288P ZNF529_ENST00000591340.1_Silent_p.P393P NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TGCATTCATAGGGTTTCTTAC 0.388000 26 162 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019928 131019928 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:131019928C>T ENST00000421699.2 - 24 2601 c.2589G>A c.(2587-2589)gaG>gaA p.E863E NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 863 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 ACTCCTCCTTCTCCCGGTGCC 0.622000 114 57 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16003245 16003245 + Splice_Site SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:16003245C>T ENST00000221700.5 - 5 494 c.397_splice c.e5-1 p.G133_splice CYP4F2_ENST00000592328.1_Splice_Site_p.G133_splice|CYP4F2_ENST00000011989.7_5'UTR NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 133 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGAGCCCATCCCCTAGCAGGG 0.592000 54 79 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204985599 204985599 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:204985599G>A ENST00000367172.4 + 32 4304 c.3976G>A c.(3976-3978)Gag>Aag p.E1326K NFASC_ENST00000367169.4_Missense_Mutation_p.E1050K|NFASC_ENST00000360049.4_Missense_Mutation_p.E1148K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1219K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1219K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Missense_Mutation_p.E1153K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1236K|NFASC_ENST00000367171.4_Missense_Mutation_p.E1311K|NFASC_ENST00000404907.1_Missense_Mutation_p.E1153K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1203K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1136K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1148K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1247K O94856 NFASC_HUMAN neurofascin 1326 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAAGGACAAGGAGGAAACAGA 0.572000 17 109 0 0 1 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33036887 33036887 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:33036887G>A ENST00000419277.1 - 4 666 c.537C>T c.(535-537)ttC>ttT p.F179F HLA-DPA1_ENST00000428995.1_Silent_p.F179F NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 179 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 TCAGGTAATGGAACTTGTGGA 0.577000 41 325 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057895 9057895 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9057895C>T ENST00000397910.4 - 3 29754 c.29551G>A c.(29551-29553)Gat>Aat p.D9851N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9853 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 ACAGTGGTATCGTCCACAGCG 0.478000 14 138 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380791 124380791 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:124380791G>A ENST00000368909.3 + 41 5222 c.5116G>A c.(5116-5118)Gat>Aat p.D1706N DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1078N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1696N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1078N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1706N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1696N NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1706 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTCCTGGATGATGTGCGCTG 0.612000 39 117 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 7 19 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648340 130648340 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:130648340G>A ENST00000539839.1 + 1 1337 c.755G>A c.(754-756)cGc>cAc p.R252H FZD10_ENST00000229030.4_Missense_Mutation_p.A285T NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.A285S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTTCGCCGGCGCCGAGAGCAT 0.657000 24 93 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44129352 44129352 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:44129352C>T ENST00000395673.3 + 2 245 c.189C>T c.(187-189)ttC>ttT p.F63F EXT2_ENST00000358681.4_Silent_p.F30F|EXT2_ENST00000533608.1_Silent_p.F30F|EXT2_ENST00000343631.3_Silent_p.F30F NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 30 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TCACCCTCTTCTCCATTGTCC 0.493000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 91 79 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50680500 50680500 + Silent SNP A A G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:50680500A>G ENST00000403097.1 - 12 1894 c.1114T>C c.(1114-1116)Ttg>Ctg p.L372L GRB10_ENST00000335866.3_Silent_p.L320L|GRB10_ENST00000407526.1_Silent_p.L320L|GRB10_ENST00000398810.2_Silent_p.L320L|GRB10_ENST00000402578.1_Silent_p.L320L|GRB10_ENST00000398812.2_Silent_p.L378L|GRB10_ENST00000406641.1_Silent_p.L320L|GRB10_ENST00000401949.1_Silent_p.L378L|GRB10_ENST00000357271.5_Silent_p.L332L|GRB10_ENST00000402497.1_Silent_p.L320L|GRB10_ENST00000439599.1_Silent_p.L372L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 378 PH. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) GCACAGAGCAACCTCAGCTCT 0.473000 Russell-Silver syndrome 8 36 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144808695 144808695 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:144808695C>T ENST00000388913.3 - 5 3061 c.2936G>A c.(2935-2937)cGg>cAg p.R979Q NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 979 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCCATGCGCCGCTCGCCCTT 0.706000 6 25 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475079 120475079 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:120475079G>A ENST00000355622.6 + 3 774 c.673G>A c.(673-675)Gaa>Aaa p.E225K TLR4_ENST00000394487.4_Missense_Mutation_p.E185K|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 225 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TGCATTTAAAGAAATTAGGCT 0.373000 17 69 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520801 33520801 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:33520801C>T ENST00000297307.5 - 1 611 c.526G>A c.(526-528)Gga>Aga p.G176R NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 176 integral to membrane GTCCAGAGTCCAGGTCCCACA 0.607000 56 246 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325003 150325003 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:150325003C>T ENST00000328902.5 - 3 899 c.683G>A c.(682-684)gGa>gAa p.G228E GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 228 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) GTAATAATCTCCTTCGTTTTC 0.512000 89 310 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132401071 132401071 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:132401071C>T ENST00000321867.4 + 20 2358 c.2007C>T c.(2005-2007)ccC>ccT p.P669P NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 669 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) AGGTGGGACCCTTCCATGGTC 0.706000 45 11 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56344821 56344821 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:56344821G>A ENST00000262290.4 + 12 2121 c.1805G>A c.(1804-1806)gGg>gAg p.G602E LPO_ENST00000421678.2_Missense_Mutation_p.G519E|LPO_ENST00000582328.1_Missense_Mutation_p.G519E|LPO_ENST00000543544.1_Missense_Mutation_p.G543E NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 602 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGTCTCTACGGGACCCCTGAC 0.587000 19 53 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57603648 57603648 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:57603648G>A ENST00000243077.3 + 80 12902 c.12436G>A c.(12436-12438)Gaa>Aaa p.E4146K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4146 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CAAGCAGCCCGAAGGTGGGGG 0.632000 8 38 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26851062 26851062 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:26851062G>A ENST00000226247.2 + 1 104 c.75G>A c.(73-75)ggG>ggA p.G25G FOXN1_ENST00000579795.1_Silent_p.G25G NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 25 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) AGCGCCAAGGGGACCTCATGC 0.682000 4 25 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124792284 124792284 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:124792284C>T ENST00000334705.7 + 7 855 c.609C>T c.(607-609)ctC>ctT p.L203L FAM91A1_ENST00000521166.1_Silent_p.L203L NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 203 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) GCCCTCAACTCTCTGGATCAC 0.328000 15 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065406 9065406 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9065406G>A ENST00000397910.4 - 3 22243 c.22040C>T c.(22039-22041)aCc>aTc p.T7347I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7349 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 GGAGGGAGTGGTTGATGTGTC 0.483000 39 36 0 0 1 0 0 CT45A1 541466 broad.mit.edu 37 X 134856789 134856789 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:134856789G>A ENST00000370741.3 + 5 809 c.564G>A c.(562-564)atG>atA p.M188I CT45A1_ENST00000482795.1_3'UTR NM_001017417.1 NP_001017417.1 Q5HYN5 CT451_HUMAN cancer/testis antigen family 45, member A1 188 TGAAACGTATGATTTGAGAAT 0.368000 39 473 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24891394 24891394 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:24891394C>T ENST00000326010.5 + 1 367 c.23C>T c.(22-24)tCg>tTg p.S8L UPB1_ENST00000382760.2_Missense_Mutation_p.S8L|UPB1_ENST00000413389.2_5'UTR NM_016327.2 NP_057411.1 Q9UBR1 BUP1_HUMAN ureidopropionase, beta 8 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GAGTGGAAGTCGCTGGAGGAA 0.647000 32 56 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48764858 48764858 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:48764858G>A ENST00000316623.5 - 35 4681 c.4226C>T c.(4225-4227)tCt>tTt p.S1409F NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1409 EGF-like 24; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGGTTCTCAGAGCACTCATC 0.512000 13 92 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089597 86089597 + Missense_Mutation SNP A A G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:86089597A>G ENST00000330753.4 + 2 2506 c.1739A>G c.(1738-1740)aAc>aGc p.N580S FLRT2_ENST00000554746.1_Missense_Mutation_p.N580S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 580 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGGAAATACAACCGGGGCCGG 0.517000 16 107 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99795441 99795441 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:99795441G>A ENST00000426455.1 + 11 1513 c.1106G>A c.(1105-1107)gGg>gAg p.G369E STAG3_ENST00000394018.2_Missense_Mutation_p.G311E|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.G369E Q9UJ98 STAG3_HUMAN stromal antigen 3 369 SCD. chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCCTGAAAGGGCTGTACGGT 0.557000 45 87 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14345756 14345756 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:14345756C>T ENST00000571589.1 + 14 2613 c.2441C>T c.(2440-2442)cCa>cTa p.P814L MKL2_ENST00000341243.5_Missense_Mutation_p.P803L|MKL2_ENST00000574045.1_Missense_Mutation_p.P764L|MKL2_ENST00000318282.5_Missense_Mutation_p.P764L NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 803 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACAGTTCTTCCATATCAGAGA 0.398000 49 111 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12318067 12318067 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:12318067C>T ENST00000261349.4 - 8 1784 c.1708G>A c.(1708-1710)Gat>Aat p.D570N LRP6_ENST00000543091.1_Missense_Mutation_p.D570N NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 570 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GGCAGCTGATCTATGATCACT 0.438000 94 147 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113395856 113395856 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:113395856C>T ENST00000297405.5 - 37 6215 c.5971G>A c.(5971-5973)Gat>Aat p.D1991N CSMD3_ENST00000352409.3_Missense_Mutation_p.D1921N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1951N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1887N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1991 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCAGAGAATCCCAATTATGT 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 35 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83935737 83935737 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:83935737G>A ENST00000345382.2 - 3 371 c.286C>T c.(286-288)Ctc>Ttc p.L96F RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.L89F NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 96 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TAGAGCATGAGGCTGCTAATA 0.483000 23 36 0 0 1 0 0 COQ2 27235 broad.mit.edu 37 4 84194714 84194714 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:84194714G>A ENST00000311469.4 - 3 626 c.627C>T c.(625-627)tcC>tcT p.S209S COQ2_ENST00000439031.2_Silent_p.S172S|COQ2_ENST00000514935.1_5'UTR|COQ2_ENST00000311461.7_Silent_p.S159S NM_015697.7 NP_056512.5 Q96H96 COQ2_HUMAN coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 159 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1) 8 Hepatocellular(203;0.114) GAAAAACAAAGGACTGAAAAG 0.383000 47 106 0 0 1 0 0 KIF25 3834 broad.mit.edu 37 6 168440778 168440778 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:168440778C>T ENST00000443060.2 + 7 919 c.528C>T c.(526-528)ctC>ctT p.L176L KIF25_ENST00000354419.2_Silent_p.L176L|KIF25_ENST00000351261.3_Silent_p.L176L Q9UIL4 KIF25_HUMAN kinesin family member 25 176 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TGATGGAGCTCGTTCATGGAG 0.597000 9 48 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590472 44590472 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:44590472C>T ENST00000421176.3 + 5 1057 c.841C>T c.(841-843)Cat>Tat p.H281Y ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TCAAAGAATCCATACTGGGGA 0.398000 72 89 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7535025 7535025 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:7535025C>T ENST00000593531.1 + 22 3236 c.3236C>T c.(3235-3237)cCg>cTg p.1079_1079insL ARHGEF18_ENST00000319670.9_Silent_p.P963P|ARHGEF18_ENST00000359920.6_Silent_p.P1121P CTGGCTTCCCCGCCCCGAGCC 0.721000 25 132 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50488593 50488593 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:50488593G>A ENST00000266182.6 - 2 134 c.135C>T c.(133-135)ttC>ttT p.F45F TTLL8_ENST00000440475.1_Silent_p.F45F|TTLL8_ENST00000477219.1_5'UTR tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GCAAAAAGTGGAACTTCTTCT 0.562000 6 23 0 0 1 0 0 LGALSL 29094 broad.mit.edu 37 2 64683565 64683565 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:64683565C>T ENST00000238875.5 + 4 795 c.341C>T c.(340-342)cCt>cTt p.P114L LGALSL_ENST00000409537.2_Intron NM_014181.2 NP_054900.2 Q3ZCW2 LEGL_HUMAN lectin, galactoside-binding-like 114 Galectin. intracellular sugar binding TCAGCAATCCCTTACTTTCCA 0.507000 57 169 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1271344 1271344 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:1271344G>A ENST00000308624.5 + 14 1413 c.e14+1 SNTG2_ENST00000407292.1_Splice_Site NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GAGAACCGGGGTAAGTGAACA 0.507000 4 18 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348361 10348361 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:10348361G>A ENST00000255381.2 - 37 5508 c.5398C>T c.(5398-5400)Cgt>Tgt p.R1800C CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1800 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCATCCAGACGGAGCTGCAGA 0.562000 63 152 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944419 40944419 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:40944419G>A ENST00000373198.3 - 12 2318 c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F PTPRT_ENST00000356100.2_Missense_Mutation_p.L695F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L695F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 695 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGGGAGAGAGAGGAGGGTTC 0.498000 16 140 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233334685 233334685 + Splice_Site SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:233334685C>T ENST00000258229.8 - 15 3300 c.3066_splice c.e15+1 p.K1022_splice PCNXL2_ENST00000488780.2_Splice_Site_p.K155_splice NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1022 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TCACACCTACCTTCACTGCAC 0.468000 8 16 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57337073 57337073 + Missense_Mutation SNP C C A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:57337073C>A ENST00000374900.4 + 3 443 c.323C>A c.(322-324)gCa>gAa p.A108E NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 108 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CAAAAGCTTGCAGAGAAGCAG 0.423000 HNSCC(52;0.14) 13 33 0.000151284 0.000152591 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92762825 92762825 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:92762825G>A ENST00000318238.4 - 5 3676 c.2460C>T c.(2458-2460)tcC>tcT p.S820S SAMD9L_ENST00000437805.1_Silent_p.S820S|SAMD9L_ENST00000411955.1_Silent_p.S820S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 820 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGCTAAAACGGAATGGATGG 0.378000 47 100 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200950211 200950211 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:200950211G>A ENST00000332129.2 - 28 4133 c.3817C>T c.(3817-3819)Ccg>Tcg p.P1273S KIF21B_ENST00000360529.5_Missense_Mutation_p.P1273S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P1286S|KIF21B_ENST00000461742.2_Missense_Mutation_p.P1286S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1286 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCTCCAACCGGGGAGATGATG 0.637000 8 92 0 0 1 0 0 GAGE10 643832 broad.mit.edu 37 X 49161352 49161352 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:49161352G>A ENST00000407599.3 + 2 107 c.14G>A c.(13-15)gGa>gAa p.G5E NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 5 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) AGTTGGCGAGGAAGATCGACC 0.448000 68 197 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41765671 41765671 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:41765671G>A ENST00000301178.4 + 20 2737 c.2547G>A c.(2545-2547)aaG>aaA p.K849K AXL_ENST00000359092.3_Silent_p.K840K|AXL_ENST00000593513.1_Silent_p.K581K NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 849 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CAGACCCTAAGGATTCCTGTA 0.597000 5 71 0 0 1 0 0 GTPBP6 8225 broad.mit.edu 37 X 229464 229464 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:229464G>A ENST00000326153.4 - 2 197 c.198C>T c.(196-198)ccC>ccT p.P66P O43824 GTPB6_HUMAN GTP binding protein 6 (putative) 295 intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CGGAGATCACGGGGAACTCCC 0.677000 15 29 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30365231 30365231 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr21:30365231C>T ENST00000389194.2 - 1 39 c.34G>A c.(34-36)Gga>Aga p.G12R LTN1_ENST00000361371.4_5'UTR|LTN1_ENST00000389195.2_Missense_Mutation_p.G12R O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TAATAACTTCCCCCGGGCCCT 0.642000 9 9 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39025783 39025783 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:39025783G>A ENST00000355481.4 + 79 11478 c.11347G>A c.(11347-11349)Gag>Aag p.E3783K RYR1_ENST00000360985.3_Missense_Mutation_p.E3788K|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3788 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.E3788Q(2) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCTCCAGGAGAGACAGGTGC 0.557000 8 45 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43542950 43542950 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr21:43542950C>T ENST00000400427.1 + 16 3401 c.3005C>T c.(3004-3006)cCt>cTt p.P1002L UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1074L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P874L|UMODL1_ENST00000408910.2_Missense_Mutation_p.P946L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 946 ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGTGACTCTCCTGGCAATGAA 0.622000 10 52 0 0 1 0 0 UTS2R 2837 broad.mit.edu 37 17 80332455 80332455 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:80332455C>T ENST00000313135.2 + 1 303 c.255C>T c.(253-255)tcC>tcT p.S85S NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 85 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) CGGTGGCCTCCATGTACGTCT 0.652000 6 17 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891350 30891350 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:30891350G>A ENST00000392772.2 - 5 429 c.152C>T c.(151-153)tCc>tTc p.S51F SEC14L4_ENST00000255858.7_Missense_Mutation_p.S105F|SEC14L4_ENST00000540456.1_Missense_Mutation_p.S90F|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S105F Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 105 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GGGGTCGAGGGACCCAATGAT 0.547000 37 28 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266870 107266870 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:107266870C>T ENST00000334726.2 + 1 416 c.327C>T c.(325-327)tcC>tcT p.S109S NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCATGGGCTCCACTGAGTGTG 0.527000 12 61 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166201247 166201247 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:166201247C>T ENST00000357398.3 + 16 3035 c.2745C>T c.(2743-2745)tcC>tcT p.S915S SCN2A_ENST00000375427.2_Silent_p.S915S|SCN2A_ENST00000375437.2_Silent_p.S915S|SCN2A_ENST00000283256.6_Silent_p.S915S Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 915 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GCAAGATTTCCAATGATTGTG 0.488000 30 151 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291130 141291130 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:141291130G>A ENST00000247452.3 - 3 991 c.644C>T c.(643-645)aCc>aTc p.T215I NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 215 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ACCCTCATCGGTGAGGCCTAC 0.512000 HNSCC(46;0.14) 98 19 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 5 106 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54360019 54360019 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:54360019G>A ENST00000361921.3 + 1 160 c.136G>A c.(136-138)Gag>Aag p.E46K DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.E46K|DIO1_ENST00000388876.3_Missense_Mutation_p.E46K|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.E46K|DIO1_ENST00000322679.6_Missense_Mutation_p.E46K NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 46 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 GGCCATGGGCGAGAAGACGGG 0.527000 84 55 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655340 139655340 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:139655340C>T ENST00000263552.6 + 11 1163 c.625C>T c.(625-627)Ccc>Tcc p.P209S TBXAS1_ENST00000411653.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P141S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P208S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P255S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P254S NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 208 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCCTGAGGATCCCTTTGTGAA 0.577000 20 205 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66987029 66987029 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:66987029C>T ENST00000340001.4 - 29 3997 c.3786G>A c.(3784-3786)caG>caA p.Q1262Q ABCA9_ENST00000453985.2_Silent_p.Q1224Q|ABCA9_ENST00000370732.2_Silent_p.Q1262Q NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1262 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) TTCTTTCCATCTGGATATCTT 0.383000 19 64 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36870278 36870278 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:36870278C>T ENST00000279024.4 - 3 526 c.255G>A c.(253-255)agG>agA p.R85R NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 85 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CAACTTCATCCCTCAGACAGA 0.577000 47 122 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361003 107361003 + Missense_Mutation SNP G G A rs75216399 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:107361003G>A ENST00000374779.2 - 1 785 c.692C>T c.(691-693)tCg>tTg p.S231L NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S231L(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TCTCCCCTCCGAAGAGCTAAT 0.423000 68 46 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10916370 10916370 + Splice_Site SNP G G A rs150256961 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr21:10916370G>A ENST00000298232.7 - 19 1589 c.1222_splice c.e19+1 p.R408_splice TPTE_ENST00000342420.5_Splice_Site_p.R388_splice|TPTE_ENST00000361285.4_Splice_Site_p.R426_splice|TPTE_ENST00000415664.2_Intron NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 426 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGCACTTACGAGGAATCGAA 0.388000 11 97 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50948839 50948839 + Missense_Mutation SNP G G C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:50948839G>C ENST00000374103.4 - 16 2142 c.2057C>G c.(2056-2058)aCg>aGg p.T686R OGDHL_ENST00000432695.1_Missense_Mutation_p.T477R|OGDHL_ENST00000419399.1_Missense_Mutation_p.T629R NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 686 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGGCACACACGTCCTGCGGTC 0.627000 31 18 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365299 7365299 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:7365299C>T ENST00000311403.4 - 4 3341 c.3002G>A c.(3001-3003)aGg>aAg p.R1001K ZBTB4_ENST00000380599.4_Missense_Mutation_p.R1001K NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 1001 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) AACCCCTGCCCTTTCCCCTTC 0.607000 8 79 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323426 29323426 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:29323426G>A ENST00000377154.1 - 4 846 c.547C>T c.(547-549)Cct>Tct p.P183S OR5V1_ENST00000543825.1_Missense_Mutation_p.P183S Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCAGCAAAGGGGGGATGTCA 0.463000 20 127 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87623852 87623852 + Silent SNP G G A rs35903042 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:87623852G>A ENST00000320005.5 - 14 1673 c.1626C>T c.(1624-1626)tcC>tcT p.S542S NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 542 signal transduction|visual perception integral to membrane cGMP binding p.S542S(1) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 AATAGAGAACGGATTTCAATC 0.328000 30 41 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17688077 17688077 + Silent SNP C C T rs143138564 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:17688077C>T ENST00000399839.1 - 3 696 c.426G>A c.(424-426)ggG>ggA p.G142G CECR1_ENST00000399837.2_Silent_p.G142G|CECR1_ENST00000262607.3_Silent_p.G142G|CECR1_ENST00000449907.2_Silent_p.G100G Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 142 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ACTGCATGATCCCCCTTGGGG 0.527000 19 94 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100191742 100191742 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:100191742C>T ENST00000376387.4 + 7 949 c.759C>T c.(757-759)ccC>ccT p.P253P NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 253 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GCTCAGGGCCCCCCATGGACA 0.393000 88 102 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8234850 8234850 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:8234850G>A ENST00000520004.1 - 3 1333 c.1069C>T c.(1069-1071)Ccc>Tcc p.P357S SGK223_ENST00000330777.4_Missense_Mutation_p.P357S Q86YV5 SG223_HUMAN 357 ATP binding|non-membrane spanning protein tyrosine kinase activity TCGAGGTGGGGGACGAAGGGG 0.647000 5 7 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57579562 57579562 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:57579562G>A ENST00000243077.3 + 41 7178 c.6712G>A c.(6712-6714)Gcc>Acc p.A2238T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2238 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GAACGTCATCGCCCTGGCCTT 0.577000 13 51 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31659451 31659451 + Missense_Mutation SNP C C A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:31659451C>A ENST00000375842.4 - 9 1077 c.91G>T c.(91-93)Ggg>Tgg p.G31W XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.G217W|ABHD16A_ENST00000395952.3_Missense_Mutation_p.G250W O95870 ABHGA_HUMAN abhydrolase domain containing 16A 250 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GCCCGGCGCCCATTACACTGA 0.622000 7 55 0.000274275 0.000275691 1 1 0 CERKL 375298 broad.mit.edu 37 2 182402931 182402931 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:182402931C>T ENST00000410087.3 - 13 1679 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K CERKL_ENST00000374969.2_Missense_Mutation_p.E414K|CERKL_ENST00000409440.3_Missense_Mutation_p.E509K|CERKL_ENST00000374970.2_Missense_Mutation_p.E458K|CERKL_ENST00000339098.5_Missense_Mutation_p.E553K NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 553 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATCATTTCTTCCATGCTTCCT 0.299000 5 24 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10996530 10996530 + Missense_Mutation SNP C C G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:10996530C>G ENST00000324288.8 + 8 777 c.644C>G c.(643-645)tCc>tGc p.S215C CIITA_ENST00000381835.5_Missense_Mutation_p.S166C|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 215 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding p.S215C(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TTCTCCAGTTCCTCGTTGAGC 0.512000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 6 61 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6030386 6030386 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:6030386G>A ENST00000546188.1 - 3 413 c.342C>T c.(340-342)ttC>ttT p.F114F ANO2_ENST00000327087.8_Silent_p.F114F|ANO2_ENST00000356134.5_Silent_p.F114F Q9NQ90 ANO2_HUMAN anoctamin 2 118 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGTGGCCAGGGAAGCCTTGGG 0.617000 5 39 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021727 73021727 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:73021727G>A ENST00000263674.3 + 1 2394 c.2044G>A c.(2044-2046)Ggc>Agc p.G682S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 682 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GAACCACCATGGCCCTGGGAC 0.657000 9 46 0 0 1 0 0 CD3D 915 broad.mit.edu 37 11 118211182 118211182 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:118211182C>T ENST00000300692.4 - 2 318 c.182G>A c.(181-183)gGa>gAa p.G61E CD3D_ENST00000392884.2_Missense_Mutation_p.G61E|CD3D_ENST00000529594.1_Intron NM_000732.4 NP_000723.1 P04234 CD3D_HUMAN CD3d molecule, delta (CD3-TCR complex) 61 positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) GATGCGTTTTCCCAGGTCCAG 0.458000 36 24 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113775239 113775239 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:113775239C>T ENST00000295878.3 - 1 221 c.75G>A c.(73-75)agG>agA p.R25R KIAA1407_ENST00000480588.1_5'UTR|KIAA1407_ENST00000545063.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 25 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GACTCGGCTTCCTTGTGAACC 0.597000 26 131 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307701 140307701 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140307701C>T ENST00000253807.2 + 1 1224 c.1224C>T c.(1222-1224)atC>atT p.I408I PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.I408I|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAGCAGATCAGTGAATACC 0.517000 7 76 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46998957 46998957 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:46998957C>T ENST00000374314.4 + 1 1032 c.77C>T c.(76-78)tCc>tTc p.S26F GPRIN2_ENST00000374317.1_Missense_Mutation_p.S26F O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 26 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CAGAGCTCTTCCAGCCTGCTG 0.697000 31 74 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579458 82579458 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:82579458C>T ENST00000423517.2 - 6 10783 c.10446G>A c.(10444-10446)tgG>tgA p.W3482* PCLO_ENST00000437081.1_Nonsense_Mutation_p.W202*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.W3482* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3413 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 TAGGCATATCCCACTCATCCT 0.468000 47 52 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 15967687 15967687 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:15967687C>T ENST00000350896.3 - 9 1271 c.1074G>A c.(1072-1074)ggG>ggA p.G358G MSR1_ENST00000262101.5_Silent_p.G421G|MSR1_ENST00000445506.2_Silent_p.G439G|MSR1_ENST00000355282.2_Silent_p.G358G NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 421 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATGATTCTCTCCCAAAACAAA 0.383000 35 52 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480351 10480351 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:10480351C>T ENST00000382483.3 - 2 584 c.361G>A c.(361-363)Gag>Aag p.E121K RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 121 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGTTTCTCTCCTGTGGCCGG 0.627000 5 20 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 242021766 242021766 + Missense_Mutation SNP G G A rs142548282 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:242021766G>A ENST00000310397.8 + 29 4108 c.4108G>A c.(4108-4110)Gtc>Atc p.V1370I SNED1_ENST00000405547.3_Missense_Mutation_p.V1337I|SNED1_ENST00000342631.6_Missense_Mutation_p.V1337I NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 1370 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GGAGGGAGGCGTCTGTCACCA 0.547000 8 150 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38397184 38397184 + Missense_Mutation SNP C C G rs147930374 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:38397184C>G ENST00000377698.3 + 2 1592 c.1439C>G c.(1438-1440)aCg>aGg p.T480R NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 480 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) ACCTGCCACACGCCATTTGGA 0.562000 11 50 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564916 47564916 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:47564916G>A ENST00000334194.3 + 8 1030 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 343 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ATGCCGAGATGAAATCAGGGA 0.438000 12 44 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58598280 58598280 + Silent SNP G G A rs142570646 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:58598280G>A ENST00000240727.6 - 5 1137 c.738C>T c.(736-738)ctC>ctT p.L246L ZSCAN18_ENST00000600404.1_Silent_p.L302L|ZSCAN18_ENST00000421612.2_Silent_p.L111L|ZSCAN18_ENST00000601144.1_Silent_p.L246L NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 246 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CACCCCACAGGAGCAGCTTCC 0.647000 4 50 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96936907 96936907 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:96936907C>T ENST00000488633.1 + 7 1057 c.838C>T c.(838-840)Cag>Tag p.Q280* NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 280 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 CCGCGTGTTTCAGGAGGATCC 0.572000 16 67 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61757428 61757428 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:61757428G>A ENST00000423902.2 + 22 5335 c.4856G>A c.(4855-4857)gGa>gAa p.G1619E CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1619 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGCAGTTGGGGACGGTGGACA 0.468000 14 27 0 0 1 0 0 KATNBL1 79768 broad.mit.edu 37 15 34434548 34434548 + Missense_Mutation SNP A A C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:34434548A>C ENST00000256544.3 - 10 1049 c.907T>G c.(907-909)Tta>Gta p.L303V NM_024713.2 NP_078989.1 katanin p80 subunit B-like 1 TCTCAATGTAACTGTAATAAA 0.279000 16 34 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25486780 25486780 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:25486780C>T ENST00000453082.2 + 0 2099 NR_003343.1 GTGCTCAGCCCCTGGTGTACT 0.587000 25 40 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92268712 92268712 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:92268712G>A ENST00000435962.2 - 4 678 c.355C>T c.(355-357)Cag>Tag p.Q119* TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q119*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q119*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q119* NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 119 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GGTCCGTGCTGGGATGAACTG 0.418000 10 56 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228487685 228487685 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:228487685G>A ENST00000570156.2 + 51 13651 c.13577G>A c.(13576-13578)tGg>tAg p.W4526* RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.W1216*|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3569 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCGTGGAGTGGAGAAAGGGG 0.547000 14 113 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296339 20296339 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:20296339C>T ENST00000315947.1 + 1 732 c.732C>T c.(730-732)atC>atT p.I244I OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCACCCATATCATTGTTATAT 0.493000 49 87 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2161812 2161812 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:2161812C>T ENST00000382203.1 + 28 4317 c.4108C>T c.(4108-4110)Cgc>Tgc p.R1370C SMARCA2_ENST00000324954.5_Missense_Mutation_p.R34C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1370C|SMARCA2_ENST00000382186.1_Missense_Mutation_p.R34C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1370C|SMARCA2_ENST00000302401.3_Missense_Mutation_p.R76C|SMARCA2_ENST00000382185.1_Missense_Mutation_p.R34C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1370C P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1370 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GAGAAGAGGCCGCCCTCCCGC 0.433000 18 19 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163307842 163307842 + Silent SNP C C T rs144568103 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:163307842C>T ENST00000271452.3 + 7 747 c.468C>T c.(466-468)aaC>aaT p.N156N NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Silent_p.N156N|NUF2_ENST00000367900.3_Silent_p.N156N NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 156 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) AACAGTTAAACGCCGCACACC 0.338000 18 76 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47989762 47989762 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:47989762G>A ENST00000371741.4 - 2 2501 c.2335C>T c.(2335-2337)Cct>Tct p.P779S NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 779 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) GTGCTCCCAGGGAGGCTTTTG 0.542000 55 592 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783141 115783141 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:115783141G>A ENST00000343348.6 - 19 3048 c.2261C>T c.(2260-2262)gCc>gTc p.A754V SEMA6A_ENST00000513137.1_Missense_Mutation_p.A181V|SEMA6A_ENST00000503865.1_Missense_Mutation_p.A133V|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A754V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A771V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A231V NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 754 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGTGGGGAGGGCCGTCAGGTC 0.637000 92 114 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179407584 179407584 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:179407584G>A ENST00000589042.1 - 348 97221 c.96997C>T c.(96997-96999)Cgt>Tgt p.R32333C TTN_ENST00000460472.2_Missense_Mutation_p.R23268C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23393C|TTN_ENST00000591111.1_Missense_Mutation_p.R30692C|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23460C|TTN_ENST00000342992.6_Missense_Mutation_p.R29765C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30692 Protein kinase. 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) GGAGGTGGACGGCCAGCAATA 0.473000 44 163 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589781 108589781 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:108589781C>T ENST00000332082.4 + 3 990 c.172C>T c.(172-174)Cca>Tca p.P58S WSCD2_ENST00000547525.1_Missense_Mutation_p.P58S|WSCD2_ENST00000549903.1_Missense_Mutation_p.P58S|WSCD2_ENST00000261400.3_Missense_Mutation_p.P58S Q2TBF2 WSCD2_HUMAN WSC domain containing 2 58 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGCAGGAGGCCCAGCTGAGGG 0.617000 66 86 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 131008774 131008774 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:131008774G>A ENST00000341179.7 + 16 1865 c.1773G>A c.(1771-1773)acG>acA p.T591T DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Silent_p.T591T|DNM1_ENST00000372923.3_Silent_p.T591T|DNM1_ENST00000475805.1_Silent_p.T591T|DNM1_ENST00000486160.1_Silent_p.T591T NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 591 PH. receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.T591T(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 TCTTTAACACGGAGCAGAGGT 0.552000 9 31 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143054427 143054427 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:143054427C>T ENST00000409408.1 - 5 2180 c.472G>A c.(472-474)Gag>Aag p.E158K FAM131B_ENST00000409578.1_Missense_Mutation_p.E174K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E158K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E186K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E158K Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 158 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CCCAATGGCTCCTGGGTGGAG 0.542000 14 194 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014101 247014101 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:247014101G>A ENST00000366508.1 - 33 5448 c.5312C>T c.(5311-5313)tCc>tTc p.S1771F AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1736F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1745F Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1736 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AGTTTTGGAGGAAACCACGTC 0.438000 19 125 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650761 90650761 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:90650761C>T ENST00000282146.4 + 2 1082 c.641C>T c.(640-642)gCc>gTc p.A214V NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 214 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TGCGCCTCAGCCATGTACACC 0.562000 72 102 0 0 1 0 0 C4orf19 55286 broad.mit.edu 37 4 37590493 37590493 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:37590493G>A ENST00000284437.6 + 2 182 c.4G>A c.(4-6)Ggg>Agg p.G2R C4orf19_ENST00000381980.4_Missense_Mutation_p.G2R|C4orf19_ENST00000508175.1_Missense_Mutation_p.G2R|RP11-36B15.1_ENST00000503034.1_RNA NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 2 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 AATCCAGATGGGGTGCAGGTG 0.373000 10 59 0 0 1 0 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32846988 32846988 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:32846988C>T ENST00000420261.1 - 0 637 TTGAACAAATCCCTTCTATGA 0.378000 6 16 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75097586 75097586 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:75097586C>T ENST00000326665.5 - 7 848 c.630G>A c.(628-630)agG>agA p.R210R C1orf173_ENST00000420661.2_Silent_p.R13R NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 210 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTATGGAGTTCCTGAACTTCA 0.393000 17 67 0 0 1 0 0 MAGEA5 4104 broad.mit.edu 37 X 151284162 151284162 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:151284162C>T ENST00000509345.2 - 0 249 CAGATCTTCTCCTTTGGTGCT 0.537000 12 43 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37154605 37154605 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:37154605C>T ENST00000262879.6 + 13 2254 c.1970C>T c.(1969-1971)tCc>tTc p.S657F RALGAPB_ENST00000397042.3_Missense_Mutation_p.S657F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S435F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S657F Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 657 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACTTTTCTGTCCCTGAAGTTG 0.358000 25 235 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58011806 58011806 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:58011806G>A ENST00000290871.5 + 2 288 c.251G>A c.(250-252)cGg>cAg p.R84Q TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Missense_Mutation_p.R84Q NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 84 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 CCCATGGAGCGGCAGCGCAAC 0.662000 21 108 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50209537 50209537 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:50209537G>A ENST00000392518.4 + 12 1582 c.1210G>A c.(1210-1212)Gcc>Acc p.A404T CPT1C_ENST00000405931.2_Missense_Mutation_p.A393T|CPT1C_ENST00000323446.5_Missense_Mutation_p.A404T|CPT1C_ENST00000354199.5_Missense_Mutation_p.A404T|CPT1C_ENST00000598293.1_Missense_Mutation_p.A404T NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 404 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGCAGCGGAGGCCCTGGAGGC 0.701000 4 20 0 0 1 0 0 CLPTM1 1209 broad.mit.edu 37 19 45476362 45476362 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:45476362C>T ENST00000541297.2 + 3 627 c.162C>T c.(160-162)gcC>gcT p.A54A CLPTM1_ENST00000337392.5_Silent_p.A68A|CLPTM1_ENST00000546079.1_5'UTR O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 68 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TCATCTGGGCCATCAGCAGTT 0.632000 18 128 0 0 1 0 0 PPM1H 57460 broad.mit.edu 37 12 63131336 63131336 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:63131336G>A ENST00000228705.6 - 5 1200 c.900C>T c.(898-900)atC>atT p.I300I NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 300 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) AAGACATGGGGATAATTTCTC 0.468000 4 14 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24583182 24583182 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:24583182C>T ENST00000358321.3 + 11 1916 c.1655C>T c.(1654-1656)tCg>tTg p.S552L NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 552 VWFD. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 ATGTTCCTGTCGGTGGCTGCC 0.667000 39 31 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559236 1559236 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:1559236G>A ENST00000381605.4 - 2 245 c.181C>T c.(181-183)Cct>Tct p.P61S SIRPB1_ENST00000262929.5_Missense_Mutation_p.P60S|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P61S|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P61S NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 61 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCCCACAGGGATCAGGGAC 0.542000 33 78 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21247973 21247973 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:21247973G>A ENST00000233242.1 - 16 2395 c.2268C>T c.(2266-2268)ctC>ctT p.L756L APOB_ENST00000399256.4_Silent_p.L756L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 756 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTCAACACTGAGCATTATTC 0.448000 10 85 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520558 52520558 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:52520558C>T ENST00000216286.5 - 5 1167 c.1168G>A c.(1168-1170)Gag>Aag p.E390K NID2_ENST00000541773.1_Missense_Mutation_p.E337K NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 390 basement membrane calcium ion binding|collagen binding p.E390Q(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTTCTGGTCTCTCTCTCATCC 0.547000 14 44 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287555 16287555 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:16287555C>T ENST00000343518.6 - 1 382 c.331G>A c.(331-333)Ggg>Agg p.G111R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 111 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTGCCGCTCCCCCTGCAGCAG 0.587000 133 342 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194790594 194790594 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:194790594G>A ENST00000310380.6 - 4 1140 c.1032C>T c.(1030-1032)ctC>ctT p.L344L XXYLT1_ENST00000355729.4_Silent_p.L141L|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Silent_p.L138L|XXYLT1_ENST00000437101.1_Silent_p.L141L|XXYLT1_ENST00000429994.1_Silent_p.L198L NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 344 integral to membrane transferase activity, transferring glycosyl groups GCACATGGAAGAGCTTGGGGT 0.622000 48 13 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91352383 91352383 + Missense_Mutation SNP T T G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:91352383T>G ENST00000355112.3 + 20 3886 c.3768T>G c.(3766-3768)gaT>gaG p.D1256E BLM_ENST00000560509.1_Missense_Mutation_p.D1125E|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1256 HRDC. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TATCTTCTGATCCTGAGGTTT 0.363000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 24 139 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 95 55 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106863676 106863676 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:106863676C>T ENST00000379987.2 + 8 1192 c.976C>T c.(976-978)Cct>Tct p.P326S NPNT_ENST00000514622.1_Missense_Mutation_p.P326S|NPNT_ENST00000506666.1_Missense_Mutation_p.P356S|NPNT_ENST00000453617.2_Missense_Mutation_p.P343S|NPNT_ENST00000427316.2_Missense_Mutation_p.P356S|NPNT_ENST00000305572.8_Missense_Mutation_p.P326S NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 326 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AACACCAATTCCTACTCCACC 0.512000 45 63 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46807188 46807188 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:46807188G>A ENST00000420102.2 + 1 83 c.53G>A c.(52-54)gGg>gAg p.G18E HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000300862.3_Silent_p.R18R|HIF3A_ENST00000244303.6_5'UTR|HIF3A_ENST00000600383.1_5'UTR|HIF3A_ENST00000377670.4_Silent_p.R20R|HIF3A_ENST00000472815.1_5'UTR Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AAAAGTCCCGGGATGCGGCCC 0.672000 4 14 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7509310 7509310 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:7509310C>T ENST00000593531.1 + 7 890 c.890C>T c.(889-891)tCc>tTc p.S297F ARHGEF18_ENST00000319670.9_Silent_p.I181I|ARHGEF18_ENST00000359920.6_Silent_p.I339I ATTATGTCATCCAGAAAATCG 0.572000 24 40 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18077114 18077114 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:18077114C>T ENST00000205890.5 + 65 10708 c.10370C>T c.(10369-10371)cCc>cTc p.P3457L MYO15A_ENST00000418233.3_Missense_Mutation_p.P721L|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3457 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GTGAAGTTCCCCCTGAAGGAG 0.637000 13 103 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476223 120476223 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:120476223G>A ENST00000355622.6 + 3 1918 c.1817G>A c.(1816-1818)cGa>cAa p.R606Q TLR4_ENST00000394487.4_Missense_Mutation_p.R566Q|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 606 LRRCT. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.R606Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GAAGTTGAACGAATGGAATGT 0.448000 6 36 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5664713 5664713 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:5664713C>T ENST00000354852.5 + 14 2476 c.2303C>T c.(2302-2304)tCt>tTt p.S768F TRIM34_ENST00000514226.1_Missense_Mutation_p.S414F|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S414F|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.S414F|TRIM34_ENST00000495668.1_3'UTR NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 768 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) TTTGAAGAGTCTTTGTCCTCT 0.438000 81 77 0 0 1 0 0 ADAL 161823 broad.mit.edu 37 15 43639285 43639285 + Missense_Mutation SNP T T A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:43639285T>A ENST00000422466.2 + 10 1198 c.624T>A c.(622-624)caT>caA p.H208Q ADAL_ENST00000562188.1_Missense_Mutation_p.H208Q|ADAL_ENST00000389651.4_Missense_Mutation_p.H208Q|ADAL_ENST00000428046.3_Intron Q6DHV7 ADAL_HUMAN adenosine deaminase-like 208 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) TAGCATTGCATCTTTCAGAGG 0.353000 10 90 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256524 63256524 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:63256524C>T ENST00000323865.3 - 1 1256 c.1023G>A c.(1021-1023)agG>agA p.R341R RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 341 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCACTGTCTTCCTCTCTCGGG 0.607000 72 84 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96022312 96022312 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:96022312G>A ENST00000260766.3 + 14 4510 c.3876G>A c.(3874-3876)tcG>tcA p.S1292S PLCE1_ENST00000371385.3_Silent_p.S984S|PLCE1_ENST00000371375.1_Silent_p.S984S|PLCE1_ENST00000371380.2_Silent_p.S1292S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1292 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.I1285fs*13(1)|p.I977fs*13(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGCAGCTATCGGACAACCAGA 0.468000 30 114 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2605269 2605269 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:2605269G>A ENST00000570628.1 - 4 549 c.444C>T c.(442-444)ttC>ttT p.F148F CLUH_ENST00000538975.1_Silent_p.F148F|CLUH_ENST00000575014.1_Silent_p.F80F|CLUH_ENST00000435359.1_Silent_p.F148F clustered mitochondria (cluA/CLU1) homolog CAACCCCGTTGAAGGCATCGG 0.647000 10 34 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133882003 133882003 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:133882003C>T ENST00000220616.4 + 3 246 c.206C>T c.(205-207)tCc>tTc p.S69F TG_ENST00000377869.1_Missense_Mutation_p.S69F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 69 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GACGGCCGCTCCTGCTGGTGT 0.662000 24 25 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100919807 100919807 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:100919807G>A ENST00000343933.5 - 2 393 c.136C>T c.(136-138)Cac>Tac p.H46Y CORO2A_ENST00000375077.4_Missense_Mutation_p.H46Y NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 46 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GCAATGAAGTGGGGGTTCACG 0.587000 16 47 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9262586 9262586 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:9262586C>T ENST00000318602.7 - 6 857 c.550G>A c.(550-552)Gag>Aag p.E184K NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 184 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGGCCACCCTCTAACTGGAAA 0.453000 107 96 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7765479 7765479 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:7765479C>T ENST00000358415.4 + 9 1099 c.933C>T c.(931-933)atC>atT p.I311I ITIH2_ENST00000379587.4_Silent_p.I300I NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 311 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCAAAAACATCCTCTTTGTCA 0.418000 20 78 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45265888 45265888 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:45265888G>A ENST00000020926.3 - 6 1107 c.996C>T c.(994-996)acC>acT p.T332T NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 332 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 GGTGCTTCAAGGTCACCTTGA 0.527000 16 71 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2705076 2705076 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:2705076G>A ENST00000399655.1 + 20 2965 c.2700G>A c.(2698-2700)acG>acA p.T900T CACNA1C_ENST00000399629.1_Silent_p.T900T|CACNA1C_ENST00000399601.1_Silent_p.T900T|CACNA1C_ENST00000399649.1_Silent_p.T900T|CACNA1C_ENST00000406454.3_Silent_p.T900T|CACNA1C_ENST00000399644.1_Silent_p.T900T|CACNA1C_ENST00000399606.1_Silent_p.T900T|CACNA1C_ENST00000399591.1_Silent_p.T900T|CACNA1C_ENST00000399621.1_Silent_p.T900T|CACNA1C_ENST00000399641.1_Silent_p.T900T|CACNA1C_ENST00000399595.1_Silent_p.T900T|CACNA1C_ENST00000399597.1_Silent_p.T900T|CACNA1C_ENST00000399638.1_Silent_p.T900T|CACNA1C_ENST00000327702.7_Silent_p.T900T|CACNA1C_ENST00000344100.3_Silent_p.T900T|CACNA1C_ENST00000399637.1_Silent_p.T900T|CACNA1C_ENST00000480911.1_Silent_p.T900T|CACNA1C_ENST00000335762.5_Silent_p.T925T|CACNA1C_ENST00000399603.1_Silent_p.T900T|CACNA1C_ENST00000399617.1_Silent_p.T900T|CACNA1C_ENST00000402845.3_Silent_p.T900T|CACNA1C_ENST00000399634.1_Silent_p.T900T|CACNA1C_ENST00000347598.4_Silent_p.T900T 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 900 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) TCAATGACACGATCTTCACCA 0.562000 66 56 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138268672 138268672 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:138268672C>T ENST00000343526.4 + 18 3086 c.2871C>T c.(2869-2871)tcC>tcT p.S957S TRIM24_ENST00000415680.2_Silent_p.S923S O15164 TIF1A_HUMAN tripartite motif containing 24 957 Bromo. cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding p.S923S(2)|p.S957S(1) breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AAGATTATTCCATGTACTCAA 0.348000 47 76 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 69064838 69064838 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:69064838C>T ENST00000342771.4 + 1 520 c.199C>T c.(199-201)Ccg>Tcg p.P67S AUTS2_ENST00000406775.2_Missense_Mutation_p.P67S|AUTS2_ENST00000403018.2_Missense_Mutation_p.P67S NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 67 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GTCCTCCGCCCCGTCCCGGCC 0.677000 13 22 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404558 61404558 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:61404558C>T ENST00000496593.1 + 0 1162 NR_002775.2 GAGAAGACCTCCTTTTTCCAG 0.547000 6 22 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108875248 108875248 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:108875248C>T ENST00000329106.2 + 5 585 c.585C>T c.(583-585)caC>caT p.H195H SULT1C3_ENST00000376700.1_Silent_p.H195H NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 195 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAGACATGCACCGGATCCTCT 0.463000 10 53 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35756556 35756556 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:35756556G>A ENST00000400445.3 + 29 5256 c.4722G>A c.(4720-4722)ctG>ctA p.L1574L NBEA_ENST00000540320.1_Silent_p.L1574L|NBEA_ENST00000379939.2_Silent_p.L1571L|NBEA_ENST00000310336.4_Silent_p.L1574L NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1574 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTCGGTTCTGATGGTTTCCA 0.378000 49 46 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49703918 49703918 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:49703918C>T ENST00000252826.5 + 19 2955 c.2829C>T c.(2827-2829)gcC>gcT p.A943A TRPM4_ENST00000355712.5_Silent_p.A589A|TRPM4_ENST00000427978.2_Silent_p.A798A NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 943 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGCTGGTAGCCTATGGCGTGG 0.622000 17 49 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20129012 20129012 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:20129012C>T ENST00000334554.7 + 9 1225 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362S|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270S|ZDHHC8_ENST00000468112.1_3'UTR NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 362 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GCCGGCTTTCCCCACGGGTCC 0.662000 4 30 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84444310 84444310 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:84444310G>A ENST00000416219.2 + 6 543 c.453_splice c.e6-1 p.E152_splice ATP2C2_ENST00000420010.2_Intron|ATP2C2_ENST00000262429.4_Splice_Site_p.E152_splice O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 152 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TTCCTGCCAGGAGTACAGGTC 0.522000 17 55 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61528272 61528272 + Silent SNP G G A rs142748214 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:61528272G>A ENST00000266070.4 - 7 1990 c.1665C>T c.(1663-1665)tcC>tcT p.S555S DIDO1_ENST00000395340.1_Silent_p.S555S|DIDO1_ENST00000395343.1_Silent_p.S555S|DIDO1_ENST00000395335.2_Silent_p.S555S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 555 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGCCCACCGCGGAGCCTGGAG 0.562000 10 68 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35232909 35232909 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:35232909C>T ENST00000428726.2 + 14 1846 c.1723C>T c.(1723-1725)Cca>Tca p.P575S CD44_ENST00000526669.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.P326S|CD44_ENST00000433354.2_Missense_Mutation_p.P547S|CD44_ENST00000360158.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.P532S|CD44_ENST00000434472.2_Missense_Mutation_p.P262S|CD44_ENST00000263398.6_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.P532S|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000437706.2_Intron NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 575 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) GACCTTCATCCCAGTGACCTC 0.443000 58 129 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34775677 34775677 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:34775677C>T ENST00000338074.2 + 8 1026 c.865C>T c.(865-867)Cat>Tat p.H289Y EPB41L1_ENST00000202028.5_Missense_Mutation_p.H227Y|EPB41L1_ENST00000373941.1_Missense_Mutation_p.H289Y|EPB41L1_ENST00000441639.1_Missense_Mutation_p.H227Y|EPB41L1_ENST00000373950.2_Missense_Mutation_p.H192Y|EPB41L1_ENST00000373946.3_Missense_Mutation_p.H258Y NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 289 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AGACCTGCACCATGCCAAGGT 0.552000 4 33 0 0 1 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17055909 17055909 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:17055909C>T ENST00000262096.8 + 6 1158 c.463C>T c.(463-465)Cat>Tat p.H155Y NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 155 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) GAAGATGGATCATCATTGTCC 0.264000 6 18 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235860390 235860390 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:235860390C>T ENST00000389794.3 - 46 10731 c.10557G>A c.(10555-10557)aaG>aaA p.K3519K LYST_ENST00000389793.2_Silent_p.K3519K|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3519 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TACCTTGTTCCTTGCTATATG 0.438000 11 83 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1983818 1983818 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:1983818C>T ENST00000382722.5 - 18 2192 c.1830G>A c.(1828-1830)agG>agA p.R610R CACNA2D4_ENST00000585708.1_Silent_p.R546R|CACNA2D4_ENST00000588077.1_Silent_p.R546R|CACNA2D4_ENST00000587995.1_Silent_p.R585R|CACNA2D4_ENST00000586184.1_Silent_p.R610R|CACNA2D4_ENST00000585732.1_Intron NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 610 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TACCTGTTTCCCTATTGATCA 0.473000 5 50 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481738 140481738 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140481738C>T ENST00000231130.2 + 1 1505 c.1505C>T c.(1504-1506)tCc>tTc p.S502F AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 502 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTCTCTTCCCTGGTCTCC 0.657000 33 185 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48371143 48371143 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:48371143G>A ENST00000380518.3 - 46 3397 c.3233C>T c.(3232-3234)cCc>cTc p.P1078L COL2A1_ENST00000337299.6_Missense_Mutation_p.P1009L|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1078 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TGGACCAGCGGGGCCAGGGGA 0.622000 80 9 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135889 55135889 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:55135889G>A ENST00000314706.3 + 1 530 c.530G>A c.(529-531)tGg>tAg p.W177* NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTGGCGGCCTGGATTGGAGGC 0.433000 121 80 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101593755 101593755 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:101593755G>A ENST00000310954.6 - 7 1451 c.1165C>T c.(1165-1167)Cta>Tta p.L389L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 389 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GAAGTTGATAGAACTAAACAC 0.313000 28 36 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557805 210557805 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:210557805G>A ENST00000360351.4 + 7 1417 c.911G>A c.(910-912)tGg>tAg p.W304* MAP2_ENST00000447185.1_Nonsense_Mutation_p.W300*|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 304 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.W304L(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATCCCAAAATGGGAAGGGAAA 0.438000 15 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588836 179588836 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:179588836C>T ENST00000589042.1 - 73 21374 c.21150G>A c.(21148-21150)ctG>ctA p.L7050L TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L6733L|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L5806L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6733 Ig-like 52. 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) CAGTATTTTTCAGTCTTCGTG 0.423000 3 22 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41209101 41209101 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:41209101G>A ENST00000309486.4 - 18 5384 c.4357C>T c.(4357-4359)Cca>Tca p.P1453S BRCA1_ENST00000346315.3_Missense_Mutation_p.P1510S|BRCA1_ENST00000351666.3_Missense_Mutation_p.P566S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1770S|BRCA1_ENST00000357654.3_Missense_Mutation_p.P1749S|BRCA1_ENST00000586385.1_Missense_Mutation_p.P59S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.P645S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1484S|BRCA1_ENST00000591534.1_Missense_Mutation_p.P240S|BRCA1_ENST00000352993.3_Missense_Mutation_p.P607S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1702S|BRCA1_ENST00000468300.1_Missense_Mutation_p.P645S NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1749 Missing (in Ref. 3; AAC00049). androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTCGCTTTGGACCTTGGTGG 0.463000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 81 235 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56868855 56868855 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:56868855G>A ENST00000311966.4 - 10 1247 c.969C>T c.(967-969)gcC>gcT p.A323A GLS2_ENST00000476991.1_5'UTR NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 323 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AATAGCCGATGGCATAATTCC 0.498000 147 30 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12343332 12343332 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:12343332C>T ENST00000358136.3 + 21 5303 c.5173C>T c.(5173-5175)Ctc>Ttc p.L1725F VPS13D_ENST00000356315.4_Missense_Mutation_p.L1725F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1725 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCCTCGGTCTCTCCCTTCCCA 0.483000 13 61 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 629846 629846 + Silent SNP G G A rs11550305 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:629846G>A ENST00000588649.2 - 3 600 c.516C>T c.(514-516)gcC>gcT p.A172A NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 172 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding p.A172A(1) cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGCACCCGGCCATCTGCT 0.697000 3 21 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13868074 13868074 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:13868074C>T ENST00000265104.4 - 25 3966 c.3862G>A c.(3862-3864)Gga>Aga p.G1288R CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1288 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCAGAAGTCCATATCTGTTA 0.388000 Kartagener syndrome 5 63 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51220089 51220089 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:51220089G>A ENST00000293441.1 - 1 106 c.88C>T c.(88-90)Cca>Tca p.P30S SHANK1_ENST00000391814.1_Missense_Mutation_p.P30S|SHANK1_ENST00000359082.3_Missense_Mutation_p.P30S NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 30 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GGCCCGTCTGGGGAGCTGTCG 0.711000 12 12 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173657 51173657 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:51173657C>T ENST00000440970.1 - 2 2616 c.2185G>A c.(2185-2187)Gat>Aat p.D729N SALL1_ENST00000251020.4_Missense_Mutation_p.D826N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 826 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATGTTTTCATCAGAGAAGTTG 0.507000 38 223 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453135 140453135 + Silent SNP C C T rs121913377 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:140453135C>T ENST00000288602.6 - 15 1860 c.1800G>A c.(1798-1800)gtG>gtA p.V600V 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(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(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) ATCGAGATTTCACTGTAGCTA 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_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 95 56 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31672907 31672907 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:31672907C>T ENST00000340552.4 + 15 2072 c.1842C>T c.(1840-1842)atC>atT p.I614I LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000406516.1_Silent_p.I557I|LIMK2_ENST00000333611.4_Intron NM_001031801.1 NP_001026971.1 P53671 LIMK2_HUMAN LIM domain kinase 2 0 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGGAGTGGATCCTGGAGCAGC 0.577000 5 35 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65486411 65486411 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:65486411C>T ENST00000519389.1 + 21 3715 c.3536C>T c.(3535-3537)gCt>gTt p.A1179V HEPH_ENST00000336279.5_Missense_Mutation_p.A858V|HEPH_ENST00000374727.3_Missense_Mutation_p.A1128V|HEPH_ENST00000419594.1_Missense_Mutation_p.A936V|HEPH_ENST00000441993.2_Missense_Mutation_p.A1127V|HEPH_ENST00000343002.2_Missense_Mutation_p.A1125V Q9BQS7 HEPH_HUMAN hephaestin 1125 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTTGTTCTGGCTCTTGGTGGA 0.483000 41 6 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119124927 119124927 + Missense_Mutation SNP C C A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:119124927C>A ENST00000328252.3 + 18 4773 c.4404C>A c.(4402-4404)ttC>ttA p.F1468L PAPPA_ENST00000534838.1_Missense_Mutation_p.F506L NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1468 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACGGCTCCTTCCATGTCTGCC 0.527000 12 58 1.61879e-10 1.64987e-10 1 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39913402 39913402 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:39913402G>A ENST00000425673.1 + 16 1946 c.1621G>A c.(1621-1623)Gga>Aga p.G541R PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G511R|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.G570R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 570 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAAGTTCCCCGGAGACTCCCA 0.587000 14 69 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107877 168107877 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:168107877C>T ENST00000409195.1 + 9 10064 c.9975C>T c.(9973-9975)ttC>ttT p.F3325F XIRP2_ENST00000409273.1_Silent_p.F3103F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3325F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3150 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGAAAATTTCGTGAATGACC 0.448000 30 80 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206624 104206624 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:104206624G>A ENST00000202556.9 - 12 2411 c.2129C>T c.(2128-2130)tCc>tTc p.S710F PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.S129F NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 710 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTCTGTGATGGAGCTGCGCTT 0.662000 19 72 0 0 1 0 0 TMEM43 79188 broad.mit.edu 37 3 14177346 14177346 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:14177346C>T ENST00000306077.4 + 10 1074 c.820C>T c.(820-822)Cca>Tca p.P274S NM_024334.2 NP_077310.1 Q9BTV4 TMM43_HUMAN transmembrane protein 43 274 endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2) 19 CCAGCTAGTCCCATTCTCCAC 0.607000 23 96 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49095151 49095151 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:49095151G>A ENST00000395443.2 - 3 954 c.482C>T c.(481-483)cCc>cTc p.P161L QRICH1_ENST00000424300.1_Missense_Mutation_p.P161L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.P161L NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 161 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CAGCTGCGAGGGACTGGGACT 0.612000 42 109 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33653892 33653892 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:33653892C>T ENST00000374316.5 + 43 6790 c.5730C>T c.(5728-5730)ttC>ttT p.F1910F ITPR3_ENST00000605930.1_Silent_p.F1910F Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1910 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CGCTGCAGTTCCTGGACATCA 0.587000 13 58 0 0 1 0 0 ANXA9 8416 broad.mit.edu 37 1 150960629 150960629 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:150960629C>T ENST00000368947.4 + 11 1236 c.760C>T c.(760-762)Cat>Tat p.H254Y NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 254 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAACCGTTTCCATGGAGATGC 0.542000 18 115 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238243356 238243356 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:238243356G>A ENST00000295550.4 - 41 9594 c.9142C>T c.(9142-9144)Ctg>Ttg p.L3048L COL6A3_ENST00000409809.1_Silent_p.L2842L|COL6A3_ENST00000346358.4_Silent_p.L2848L|COL6A3_ENST00000347401.3_Silent_p.L2847L|COL6A3_ENST00000353578.4_Silent_p.L2842L|COL6A3_ENST00000472056.1_Silent_p.L2441L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3048 Fibronectin type-III.|Nonhelical region. 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) CCAGCGAGCAGGCCTCCAATG 0.547000 15 38 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42813817 42813817 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:42813817G>A ENST00000499536.2 + 1 892 c.81G>A c.(79-81)cgG>cgA p.R27R PRR19_ENST00000598490.1_Silent_p.R27R|PRR19_ENST00000341747.3_Silent_p.R27R A6NJB7 PRR19_HUMAN proline rich 19 27 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) AGACTAGGCGGGAACGTAACA 0.597000 47 68 0 0 1 0 0 FAM53C 51307 broad.mit.edu 37 5 137680685 137680685 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:137680685C>T ENST00000239906.5 + 4 736 c.308C>T c.(307-309)cCa>cTa p.P103L FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.P103L NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 103 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCCCCAGATCCAGAGAAGCTT 0.657000 18 115 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151854957 151854957 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:151854957G>A ENST00000355193.2 - 45 11948 c.11730C>T c.(11728-11730)caC>caT p.H3910H KMT2C_ENST00000262189.6_Intron lysine (K)-specific methyltransferase 2C AAGGAAGAAAGTGCGCAAAGT 0.418000 3 20 0 0 1 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77528599 77528599 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:77528599G>A ENST00000373304.3 - 3 937 c.645C>T c.(643-645)acC>acT p.T215T NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 215 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) TTTTTAGTAAGGTCAAAATGA 0.323000 25 1 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131624122 131624122 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:131624122C>T ENST00000512055.1 - 6 2292 c.166G>A c.(166-168)Ggg>Agg p.G56R CPNE4_ENST00000429747.1_Missense_Mutation_p.G56R|CPNE4_ENST00000512332.1_Missense_Mutation_p.G74R|CPNE4_ENST00000502818.1_Missense_Mutation_p.G74R|CPNE4_ENST00000511604.1_Missense_Mutation_p.G56R Q96A23 CPNE4_HUMAN copine IV 56 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AACCACTGCCCATGAGACTGC 0.463000 19 93 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455692 187455692 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:187455692G>A ENST00000307161.5 - 2 405 c.204C>T c.(202-204)agC>agT p.S68S RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 68 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CCACCGCTAAGCTCACCACAA 0.463000 30 46 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39544347 39544347 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:39544347C>T ENST00000379631.4 - 5 835 c.491G>A c.(490-492)cGa>cAa p.R164Q STOML3_ENST00000423210.1_Missense_Mutation_p.R155Q NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 164 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) GATCTCTTCTCGTCCAGCTAA 0.408000 9 131 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43647461 43647461 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:43647461G>A ENST00000372492.4 + 3 738 c.414G>A c.(412-414)tgG>tgA p.W138* WDR65_ENST00000528956.1_Nonsense_Mutation_p.W138* NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 138 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACTGGCTGTGGGAAAAACAGA 0.403000 60 8 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51748684 51748684 + Missense_Mutation SNP G G A rs61848260 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:51748684G>A ENST00000374056.4 + 1 607 c.209G>A c.(208-210)cGg>cAg p.R70Q AGAP6_ENST00000412531.3_Missense_Mutation_p.R70Q C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 70 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 GTTCGTGACCGGGAGATGCCT 0.592000 7 122 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102981430 102981430 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:102981430G>A ENST00000504592.1 + 16 2405 c.1987G>A c.(1987-1989)Gaa>Aaa p.E663K BANK1_ENST00000444316.2_Missense_Mutation_p.E648K|BANK1_ENST00000508653.1_Missense_Mutation_p.E545K|BANK1_ENST00000322953.4_Missense_Mutation_p.E678K|BANK1_ENST00000428908.1_Missense_Mutation_p.E545K Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 678 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TGATGGTCAGGAAGAACTCAT 0.453000 52 62 0 0 1 0 0 UBL7 84993 broad.mit.edu 37 15 74751147 74751147 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:74751147G>A ENST00000567435.1 - 2 525 c.62C>T c.(61-63)tCt>tTt p.S21F UBL7_ENST00000361351.4_Missense_Mutation_p.S21F|UBL7_ENST00000565335.1_Missense_Mutation_p.S21F|UBL7_ENST00000395081.2_Missense_Mutation_p.S21F|UBL7_ENST00000564488.1_Missense_Mutation_p.S21F Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 21 Ubiquitin-like. protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 CCGAAGAATAGACTTTGGAGT 0.498000 30 167 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33603427 33603427 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:33603427G>A ENST00000170564.2 + 13 2114 c.1800G>A c.(1798-1800)atG>atA p.M600I NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 600 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) CTGTGAAGATGAAGATGTTTG 0.483000 22 124 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42629073 42629073 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:42629073C>T ENST00000381668.5 - 2 334 c.103G>A c.(103-105)Gaa>Aaa p.E35K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E35K|ATP8A1_ENST00000510289.1_Missense_Mutation_p.E35K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 35 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTCCTTACTTCCTCCTGGTCA 0.413000 14 31 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407772 1407772 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:1407772G>A ENST00000381524.3 + 6 650 c.464G>A c.(463-465)cGa>cAa p.R155Q CSF2RA_ENST00000501036.2_Missense_Mutation_p.R22Q|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R155Q|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R155Q P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 155 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTGTACATACGAAACTCAAAG 0.413000 43 116 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968871 5968871 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:5968871C>T ENST00000329564.6 + 1 302 c.295C>T c.(295-297)Cct>Tct p.P99S NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCAGCTTCCCTGCCTGCTT 0.532000 98 104 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39932212 39932212 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:39932212G>A ENST00000342274.4 - 4 2749 c.2387C>T c.(2386-2388)aCt>aTt p.T796I BCOR_ENST00000397354.3_Missense_Mutation_p.T796I|BCOR_ENST00000378444.4_Missense_Mutation_p.T796I|BCOR_ENST00000378455.4_Missense_Mutation_p.T796I NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 796 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TTTGACAACAGTCTTCCCTTG 0.483000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 49 135 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4875598 4875598 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:4875598G>A ENST00000361571.5 - 15 3145 c.2734C>T c.(2734-2736)Ctc>Ttc p.L912F CAMTA2_ENST00000348066.3_Missense_Mutation_p.L913F|CAMTA2_ENST00000381311.5_Missense_Mutation_p.L915F|CAMTA2_ENST00000358183.4_Missense_Mutation_p.L913F|CAMTA2_ENST00000572543.1_Missense_Mutation_p.L918F|CAMTA2_ENST00000414043.3_Missense_Mutation_p.L936F NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 913 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding p.L913F(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GCTGGTGGGAGGGCAGGAAGG 0.602000 8 98 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91365690 91365690 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:91365690C>T ENST00000261991.3 - 12 1629 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E486K|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E407K NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 486 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TGAAAAACTTCATGCAACTTC 0.383000 22 42 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832126 24832126 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:24832126G>A ENST00000376451.2 + 14 3236 c.2976G>A c.(2974-2976)atG>atA p.M992I KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.M1309I|KIAA1217_ENST00000307544.6_Intron Q5T5P2 SKT_HUMAN KIAA1217 1309 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAAAGGAGATGGAAAAGCAAA 0.398000 48 32 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412047 51412047 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:51412047C>T ENST00000319760.6 - 1 401 c.349G>A c.(349-351)Gcc>Acc p.A117T NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CGATCACAGGCCATCACCACC 0.473000 39 20 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89657539 89657539 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:89657539C>T ENST00000268720.5 + 15 1528 c.1398C>T c.(1396-1398)atC>atT p.I466I CPNE7_ENST00000319518.8_Silent_p.I391I NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 466 VWFA. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCACAGGCATCCAGGGCGTGG 0.687000 16 7 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159847208 159847208 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:159847208C>T ENST00000426543.2 - 9 1289 c.834G>A c.(832-834)agG>agA p.R278R CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.R363R Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 363 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TCTCTTTCTCCCTCCGGATTC 0.552000 42 287 0 0 1 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084283 26084283 + RNA SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:26084283C>T ENST00000478176.1 - 0 174 NR_003678.1 GATGGAGCTTCATGTTTGCCT 0.388000 5 80 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36583618 36583618 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:36583618G>A ENST00000401500.2 + 19 2273 c.2238G>A c.(2236-2238)ccG>ccA p.P746P WDR62_ENST00000270301.7_Silent_p.P746P NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 746 cerebral cortex development nucleus p.P746P(1) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACCTGGGCCCGGAGATCACCA 0.597000 29 151 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158066850 158066850 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:158066850C>T ENST00000359775.5 + 6 1723 c.834C>T c.(832-834)tcC>tcT p.S278S ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.S278S Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 278 integral to membrane acyltransferase activity|zinc ion binding p.S278S(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) TGATCAGCTCCAACCAGACAA 0.522000 3 22 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50944211 50944211 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:50944211G>A ENST00000374103.4 - 22 2852 c.2767C>T c.(2767-2769)Ccc>Tcc p.P923S OGDHL_ENST00000432695.1_Missense_Mutation_p.P714S|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.P866S NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 923 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGGTCGAAGGGGAATGGAGAG 0.602000 6 26 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195965607 195965607 + Silent SNP G G A rs142070722 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:195965607G>A ENST00000292823.2 - 10 1228 c.1056C>T c.(1054-1056)tcC>tcT p.S352S PCYT1A_ENST00000419333.1_Silent_p.S352S|PCYT1A_ENST00000431016.1_Silent_p.S352S NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 352 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) CCTTGTGCCTGGAGAGATTTG 0.572000 17 156 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24518562 24518562 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:24518562C>T ENST00000355123.4 - 14 2049 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K ITSN2_ENST00000406921.3_Missense_Mutation_p.E536K|ITSN2_ENST00000361999.3_Missense_Mutation_p.E536K NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 536 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTTGATTTCCATAATTTCC 0.428000 50 29 0 0 1 0 0 DEFB115 245929 broad.mit.edu 37 20 29847392 29847392 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:29847392C>T ENST00000400552.1 + 2 224 c.224C>T c.(223-225)tCa>tTa p.S75L NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 75 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) GATAAACTATCACACATTCAC 0.353000 25 30 0 0 1 0 0 KLC3 147700 broad.mit.edu 37 19 45853671 45853671 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:45853671G>A ENST00000470402.1 + 8 1358 c.1258G>A c.(1258-1260)Gac>Aac p.D420N ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Missense_Mutation_p.D406N|KLC3_ENST00000585434.1_Missense_Mutation_p.D405N Q6P597 KLC3_HUMAN kinesin light chain 3 406 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCACAAGGAGGACCTACCCGC 0.562000 16 61 0 0 1 0 0 CDK1 983 broad.mit.edu 37 10 62551976 62551976 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:62551976C>T ENST00000448257.2 + 7 925 c.724C>T c.(724-726)Ccc>Tcc p.P242S CDK1_ENST00000316629.4_Missense_Mutation_p.P185S|CDK1_ENST00000395284.3_Missense_Mutation_p.P242S|CDK1_ENST00000373809.2_Missense_Mutation_p.P185S P06493 CDK1_HUMAN cyclin-dependent kinase 1 242 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 GAATACATTTCCCAAATGGAA 0.393000 10 83 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126220688 126220688 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:126220688C>T ENST00000383579.3 - 10 1039 c.1006G>A c.(1006-1008)Gag>Aag p.E336K UROC1_ENST00000290868.2_Intron NM_001165974.1 NP_001159446.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 0 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CACCTCCCCTCCCCCAGGGGT 0.612000 14 64 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4409354 4409354 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:4409354G>A ENST00000251166.4 - 23 2428 c.2283C>T c.(2281-2283)ctC>ctT p.L761L CORO7-PAM16_ENST00000572467.1_Silent_p.L761L|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.L743L|CORO7_ENST00000574025.1_Silent_p.L676L|CORO7_ENST00000539968.1_Silent_p.L541L NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 GGGACTCGGGGAGCAGCTCGT 0.657000 OREG0023580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 24 0 0 1 0 0 SPDYE4 388333 broad.mit.edu 37 17 8656710 8656710 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:8656710G>A ENST00000328794.6 - 5 759 c.583C>T c.(583-585)Cat>Tat p.H195Y NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 195 breast(1)|endometrium(2)|kidney(1) 4 CGAAGCTTATGGAACAAGGGT 0.577000 8 15 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704190 6704190 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:6704190G>A ENST00000338694.2 - 7 1054 c.925C>T c.(925-927)Cca>Tca p.P309S TEKT1_ENST00000535086.1_Missense_Mutation_p.P163S NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 309 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ACCTTGGCTGGCCCTTCTTGG 0.498000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 224 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9054252 9054252 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9054252G>A ENST00000397910.4 - 4 31573 c.31370C>T c.(31369-31371)tCg>tTg p.S10457L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10459 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 ACTGGCAGGCGAAGTGGATGT 0.448000 7 10 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70357680 70357680 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:70357680C>T ENST00000333646.6 + 41 6139 c.5940C>T c.(5938-5940)caC>caT p.H1980H MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.H1976H|MED12_ENST00000374080.3_Silent_p.H1977H NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1977 Gln-rich.|Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AGAGCACCCACCCTTCTACCA 0.572000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 58 6 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834273 101834273 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:101834273G>A ENST00000506729.1 - 1 447 c.276C>T c.(274-276)ggC>ggT p.G92G SLCO6A1_ENST00000389019.3_Silent_p.G92G|SLCO6A1_ENST00000379810.1_Silent_p.G92G|SLCO6A1_ENST00000513675.1_Silent_p.G92G|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.G92G Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 92 Cys-rich. integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGACTAAGCAGCCCAAACCAC 0.498000 19 147 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41227212 41227212 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:41227212G>A ENST00000249749.5 + 8 1413 c.1137G>A c.(1135-1137)gaG>gaA p.E379E NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 379 EGF-like 5. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCTGCCGGGAGCGCAACCAGG 0.612000 22 90 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99850430 99850430 + Missense_Mutation SNP T T C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:99850430T>C ENST00000369239.5 - 11 1517 c.1313A>G c.(1312-1314)gAt>gGt p.D438G PNISR_ENST00000438806.1_Missense_Mutation_p.D438G NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 438 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 CATCTGTTTATCATGTAATAG 0.323000 4 64 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 63 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10450801 10450801 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:10450801C>T ENST00000245503.5 - 4 723 c.339G>A c.(337-339)tgG>tgA p.W113* CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Nonsense_Mutation_p.W113*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.W113* NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 113 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGTAGATCATCCAGGCTGCAT 0.478000 106 160 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19468122 19468122 + Nonsense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:19468122C>T ENST00000219821.5 + 1 351 c.94C>T c.(94-96)Caa>Taa p.Q32* TMC5_ENST00000564959.1_Intron|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Intron NM_024780.4 NP_079056.2 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 0 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCAGATTTTTCAAGAAAAGGT 0.428000 24 54 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63721281 63721281 + Missense_Mutation SNP G G T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:63721281G>T ENST00000421025.1 + 4 505 c.236G>T c.(235-237)aGa>aTa p.R79I ZNF679_ENST00000255746.4_Missense_Mutation_p.R79I NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AATATAAAGAGAAATGAGATG 0.393000 7 89 0.00307968 0.00309026 1 1 0 PLCE1 51196 broad.mit.edu 37 10 96066280 96066280 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:96066280C>T ENST00000260766.3 + 26 6353 c.5719C>T c.(5719-5721)Cgc>Tgc p.R1907C PLCE1_ENST00000371385.3_Missense_Mutation_p.R1599C|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1599C|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1907C NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1907 C2. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CTGCCATTTCCGCACAAAGCC 0.507000 54 38 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864629 13864629 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:13864629C>T ENST00000265104.4 - 28 4577 c.4473G>A c.(4471-4473)atG>atA p.M1491I CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1491 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCGCTCCATCATGGCTTTAC 0.502000 Kartagener syndrome 38 36 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20012264 20012264 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:20012264G>A ENST00000400230.2 - 14 1047 c.1003C>T c.(1003-1005)Ctt>Ttt p.L335F TPTE2_ENST00000457266.2_Missense_Mutation_p.L224F|TPTE2_ENST00000400103.2_Missense_Mutation_p.L224F|TPTE2_ENST00000390680.2_Missense_Mutation_p.L258F|TPTE2_ENST00000382977.4_Missense_Mutation_p.L335F|TPTE2_ENST00000382975.4_Missense_Mutation_p.L295F|TPTE2_ENST00000382978.1_Missense_Mutation_p.L295F|TPTE2_ENST00000255310.6_Missense_Mutation_p.L258F Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 335 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GAGGCAATAAGGAGGGCACAA 0.368000 10 109 0 0 1 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784501 30784501 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:30784501G>A ENST00000246229.4 - 3 1509 c.1245C>T c.(1243-1245)tcC>tcT p.S415S NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 415 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCAGTAGGTGGGAGAAGTCCA 0.647000 4 36 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356109 10356109 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:10356109G>A ENST00000255381.2 - 25 3362 c.3252C>T c.(3250-3252)ctC>ctT p.L1084L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1084 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTACTTTTTGAGTTTCTCAT 0.353000 77 91 0 0 1 0 0 WDSUB1 151525 broad.mit.edu 37 2 160139344 160139344 + Silent SNP G G T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:160139344G>T ENST00000409990.3 - 2 493 c.237C>A c.(235-237)gtC>gtA p.V79V WDSUB1_ENST00000409124.1_Silent_p.V79V|WDSUB1_ENST00000392796.3_Silent_p.V79V|WDSUB1_ENST00000358147.4_Silent_p.V79V|WDSUB1_ENST00000359774.4_Silent_p.V79V NM_001128213.1 NP_001121685.1 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 79 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 TATTCCATAGGACAGTGGTAC 0.488000 22 59 1.9806e-07 2.0151e-07 1 1 0 GORASP2 26003 broad.mit.edu 37 2 171804873 171804873 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:171804873C>T ENST00000234160.4 + 2 892 c.77C>T c.(76-78)tCc>tTc p.S26F GORASP2_ENST00000452526.2_Missense_Mutation_p.S38F|GORASP2_ENST00000493692.1_3'UTR NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 26 PDZ. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CAAGAAAATTCCCCAGGACAC 0.333000 37 15 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124818423 124818423 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:124818423C>T ENST00000334705.7 + 20 2232 c.1986C>T c.(1984-1986)tcC>tcT p.S662S FAM91A1_ENST00000521166.1_Silent_p.S662S NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 662 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) TGAATGCTTCCAGCCAACTTG 0.403000 59 73 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202746 140202746 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140202746C>T ENST00000529859.1 + 1 1386 c.1386C>T c.(1384-1386)ttC>ttT p.F462F PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F462F|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.F462F|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACCGTGTTCGTGAAGGAGA 0.662000 22 136 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762826 92762826 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:92762826G>A ENST00000318238.4 - 5 3675 c.2459C>T c.(2458-2460)tCc>tTc p.S820F SAMD9L_ENST00000437805.1_Missense_Mutation_p.S820F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S820F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 820 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGCTAAAACGGAATGGATGGC 0.378000 46 101 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50847285 50847285 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:50847285C>T ENST00000404971.1 - 9 2654 c.1315G>A c.(1315-1317)Ggc>Agc p.G439S NRXN1_ENST00000406859.3_Missense_Mutation_p.G399S|NRXN1_ENST00000406316.2_Missense_Mutation_p.G399S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G391S|NRXN1_ENST00000402717.3_Missense_Mutation_p.G391S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G399S NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 399 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGCGTGTAGCCCGTTGTGGTA 0.478000 19 9 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95556731 95556731 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:95556731C>T ENST00000371418.4 + 8 1105 c.845C>T c.(844-846)tCc>tTc p.S282F LGI1_ENST00000542308.1_Missense_Mutation_p.S234F|LGI1_ENST00000371413.3_Intron NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 282 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) CCAGGCACATCCACTGTAGTA 0.468000 30 28 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174696 150174696 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:150174696C>T ENST00000307271.3 + 5 2400 c.1826C>T c.(1825-1827)gCc>gTc p.A609V NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 609 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ACAGGCCAGGCCCAGGAAACC 0.458000 31 249 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651365 142651365 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:142651365G>A ENST00000355265.2 - 8 1304 c.830C>T c.(829-831)tCc>tTc p.S277F KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 277 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGAAGTGATGGAGATTGACAA 0.552000 9 108 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96066279 96066279 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:96066279C>T ENST00000260766.3 + 26 6352 c.5718C>T c.(5716-5718)ttC>ttT p.F1906F PLCE1_ENST00000371385.3_Silent_p.F1598F|PLCE1_ENST00000371375.1_Silent_p.F1598F|PLCE1_ENST00000371380.2_Silent_p.F1906F NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1906 C2. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCTGCCATTTCCGCACAAAGC 0.512000 56 38 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109793693 109793693 + Silent SNP C C T rs147270616 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:109793693C>T ENST00000356711.2 + 32 5193 c.5067C>T c.(5065-5067)tcC>tcT p.S1689S MYO16_ENST00000357550.2_Silent_p.S1689S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1689 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.S1689S(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTCGGAAATCCGCGGCGGGAA 0.627000 5 20 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121724190 121724190 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:121724190C>T ENST00000273691.3 - 3 385 c.280G>A c.(280-282)Gac>Aac p.D94N ILDR1_ENST00000393631.1_Missense_Mutation_p.D94N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D94N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D106N NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 94 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CGCTGGTTGTCGTTGCAGTCA 0.597000 7 39 0 0 1 0 0 SETMAR 6419 broad.mit.edu 37 3 4354724 4354724 + Missense_Mutation SNP C C T rs145940333 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:4354724C>T ENST00000358065.4 + 2 366 c.299C>T c.(298-300)tCa>tTa p.S100L SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.S100L|SETMAR_ENST00000462115.1_3'UTR|SETMAR_ENST00000430981.1_Missense_Mutation_p.S100L NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 87 Histone-lysine N-methyltransferase.|Pre-SET. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) GATGATAACTCATGCCTTAGA 0.488000 Chromatin Structure 14 73 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123924522 123924522 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:123924522G>A ENST00000373855.1 + 34 5656 c.5396G>A c.(5395-5397)tGg>tAg p.W1799* CNTRL_ENST00000373850.1_Nonsense_Mutation_p.W1247*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.W1799*|CNTRL_ENST00000373845.2_3'UTR Q7Z7A1 CNTRL_HUMAN centriolin 1799 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 TGTGACATTTGGGAAAAAAAG 0.388000 14 43 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369236 20369236 + RNA SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:20369236G>A ENST00000593655.1 - 0 199 AGTGAATTACGATCAATGTTA 0.413000 54 90 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452050 138452050 + Missense_Mutation SNP T T C TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr4:138452050T>C ENST00000344876.4 - 1 1579 c.1193A>G c.(1192-1194)aAg>aGg p.K398R PCDH18_ENST00000412923.2_Missense_Mutation_p.K398R|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178R|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 398 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCATGAAGCTTACAAACTAT 0.343000 14 104 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698653 111698653 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:111698653C>T ENST00000340433.2 + 1 927 c.697C>T c.(697-699)Cca>Tca p.P233S NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 233 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 GACCCAGCTCCCATTGTTGGC 0.517000 111 73 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1043227 1043227 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:1043227C>T ENST00000263094.6 + 8 998 c.767C>T c.(766-768)tCc>tTc p.S256F ABCA7_ENST00000433129.1_Missense_Mutation_p.S256F|ABCA7_ENST00000435683.2_Missense_Mutation_p.S118F NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 256 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCCAGAATCCGCCCTGCCA 0.642000 61 65 0 0 1 0 0 CDCA4 55038 broad.mit.edu 37 14 105478262 105478262 + Missense_Mutation SNP A A G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:105478262A>G ENST00000336219.3 - 2 160 c.5T>C c.(4-6)tTt>tCt p.F2S CDCA4_ENST00000392590.3_Missense_Mutation_p.F2S NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 2 nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) TCCTCGTGCAAACATTGTGTC 0.572000 23 34 0 0 1 0 0 TMEM89 440955 broad.mit.edu 37 3 48658389 48658389 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:48658389G>A ENST00000330862.3 - 2 464 c.366C>T c.(364-366)ctC>ctT p.L122L NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 122 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGACCCCACGGAGCAGGGTGT 0.612000 13 72 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52663781 52663781 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:52663781G>A ENST00000322146.8 - 4 600 c.79C>T c.(79-81)Cct>Tct p.P27S ZNF836_ENST00000597065.1_Missense_Mutation_p.P27S|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P27S NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTCTGCACAGGGTCCAGGGAT 0.448000 30 180 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439945 150439945 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:150439945G>A ENST00000358647.3 + 3 1085 c.718G>A c.(718-720)Gaa>Aaa p.E240K 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) GGCCTGCCAGGAAGACTACAG 0.577000 33 129 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605446 140605446 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140605446G>A ENST00000239449.4 + 1 2369 c.2369G>A c.(2368-2370)cGa>cAa p.R790Q PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAACTTTCGAAATAGCTTT 0.348000 58 64 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28848902 28848902 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:28848902C>T ENST00000357727.2 + 9 1515 c.1125C>T c.(1123-1125)gaC>gaT p.D375D CREB5_ENST00000396300.2_Silent_p.D368D|CREB5_ENST00000396298.2_Silent_p.D236D|CREB5_ENST00000396299.2_Silent_p.D342D|CREB5_ENST00000409603.1_Silent_p.D342D NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 375 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGGATCCGGACGAGAGGCGGC 0.592000 26 105 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1474274 1474274 + Silent SNP G G A rs150270558 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:1474274G>A ENST00000297508.7 - 17 2848 c.2673C>T c.(2671-2673)tcC>tcT p.S891S MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.S679S NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 891 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) ACCAGATCTTGGACAAGCGGA 0.637000 19 143 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87678312 87678312 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:87678312G>A ENST00000284262.2 + 2 1073 c.831G>A c.(829-831)gaG>gaA p.E277E NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 277 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CGGTCATCGAGGACGACATCG 0.667000 11 53 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21205187 21205187 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:21205187G>A ENST00000381541.3 + 10 1554 c.1489G>A c.(1489-1491)Gag>Aag p.E497K LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E497K|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E450K TGGTAATAAAGAGCCCATAGT 0.343000 63 90 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198323 15198323 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:15198323G>A ENST00000209540.2 + 1 533 c.447G>A c.(445-447)tgG>tgA p.W149* NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 GAGCATCATGGATGATCACCA 0.557000 16 64 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55341714 55341714 + Missense_Mutation SNP G G A rs149238468 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:55341714G>A ENST00000371269.3 - 3 492 c.394C>T c.(394-396)Cgt>Tgt p.R132C DHCR24_ENST00000535035.1_Missense_Mutation_p.R91C NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 132 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding p.R132G(1) large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 GGCTCCACACGGACAATCTGT 0.582000 29 3 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100395693 100395693 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:100395693C>T ENST00000281806.2 - 3 651 c.337G>A c.(337-339)Gat>Aat p.D113N MCHR2_ENST00000445970.1_Missense_Mutation_p.D113N|MCHR2_ENST00000369212.1_Missense_Mutation_p.D113N NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 113 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTACAAGTATCCAGGGATGTG 0.458000 38 107 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151854958 151854958 + Missense_Mutation SNP T T C rs41274985 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:151854958T>C ENST00000355193.2 - 45 11947 c.11729A>G c.(11728-11730)cAc>cGc p.H3910R KMT2C_ENST00000262189.6_Intron lysine (K)-specific methyltransferase 2C AGGAAGAAAGTGCGCAAAGTT 0.418000 3 20 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6183189 6183189 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:6183189C>T ENST00000588304.1 + 10 1524 c.1078C>T c.(1078-1080)Cta>Tta p.L360L ACSBG2_ENST00000591403.1_Silent_p.L410L|ACSBG2_ENST00000586696.1_Silent_p.L410L|ACSBG2_ENST00000588485.1_Silent_p.L223L|ACSBG2_ENST00000252669.5_Silent_p.L410L|ACSBG2_ENST00000591741.1_3'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 410 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CGAGTTCTTTCTAAGCTTGGA 0.493000 53 80 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11394177 11394177 + Splice_Site SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:11394177C>T ENST00000227756.4 - 6 1389 c.e6-1 NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GGCAGGGCTCCTGCAGGGGCA 0.597000 24 22 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134889048 134889048 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:134889048G>A ENST00000354475.4 - 6 894 c.863C>T c.(862-864)tCg>tTg p.S288L WDR91_ENST00000423565.1_Missense_Mutation_p.S253L|WDR91_ENST00000344400.5_Missense_Mutation_p.S288L|WDR91_ENST00000485942.1_5'UTR NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 288 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 TTTCTTGGCCGAGCTCTGAGG 0.592000 24 73 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64022396 64022396 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:64022396C>T ENST00000540288.1 + 4 376 c.273C>T c.(271-273)ggC>ggT p.G91G PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Silent_p.G91G NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 91 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 AAGTTCTGGGCTTTGGGGGTC 0.612000 14 9 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18182929 18182929 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:18182929G>A ENST00000600835.1 - 10 1317 c.1014C>T c.(1012-1014)acC>acT p.T338T IL12RB1_ENST00000322153.6_Silent_p.T338T|IL12RB1_ENST00000593993.1_Silent_p.T338T|IL12RB1_ENST00000430026.2_Silent_p.T338T P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 338 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CACCTGTGTGGGTGTCGGCAG 0.612000 7 36 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104133226 104133226 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:104133226C>T ENST00000388887.2 + 54 5938 c.5734C>T c.(5734-5736)Cca>Tca p.P1912S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1912 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCCCAGCTGCCCAAGGTGGAG 0.428000 23 39 0 0 1 0 0 ADK 132 broad.mit.edu 37 10 76468125 76468125 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:76468125C>T ENST00000372734.3 + 11 1147 c.960C>T c.(958-960)atC>atT p.I320I ADK_ENST00000539909.1_Silent_p.I280I|ADK_ENST00000541550.1_Silent_p.I302I|ADK_ENST00000286621.2_Silent_p.I337I NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 337 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) CTGAATGTATCCGTGCTGGCC 0.453000 46 51 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725356 38725356 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:38725356C>T ENST00000409072.3 - 2 1184 c.250G>A c.(250-252)Gag>Aag p.E84K family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GTCTGTGCCTCCGGGTACTTC 0.547000 87 143 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 108970494 108970494 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:108970494C>T ENST00000276659.5 - 5 1050 c.430G>A c.(430-432)Gga>Aga p.G144R RSPO2_ENST00000517939.1_Missense_Mutation_p.G77R|RSPO2_ENST00000517781.1_Splice_Site|RSPO2_ENST00000378439.2_Splice_Site NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 144 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) ACTTCACATCCTTCTAGTAAA 0.373000 18 48 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939100 22939100 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:22939100C>T ENST00000397104.3 - 8 3020 c.3021G>A c.(3019-3021)ggG>ggA p.G1007G zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTAGGTTTTCCCTCCAGTAT 0.378000 46 58 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3828796 3828796 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:3828796G>A ENST00000262367.5 - 9 2655 c.1846C>T c.(1846-1848)Cct>Tct p.P616S CREBBP_ENST00000382070.3_Missense_Mutation_p.P578S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 616 KIX. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCGGGATCAGGTGTTGGGAAG 0.473000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 64 110 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657641 143657641 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:143657641C>T ENST00000392899.1 + 1 615 c.578C>T c.(577-579)tCc>tTc p.S193F NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) GTGGACACCTCCTCCAATGAG 0.478000 85 101 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43111338 43111338 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:43111338C>T ENST00000230419.4 + 14 2452 c.2231C>T c.(2230-2232)cCa>cTa p.P744L PTK7_ENST00000349241.2_Missense_Mutation_p.P614L|PTK7_ENST00000345201.2_Missense_Mutation_p.P704L|PTK7_ENST00000481273.1_Missense_Mutation_p.P752L|PTK7_ENST00000352931.2_Missense_Mutation_p.P688L NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 744 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) GGCGAGGAGCCAGAGATGGAA 0.677000 OREG0017450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 40 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396877 154396877 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:154396877G>A ENST00000435029.4 + 1 3618 c.3458G>A c.(3457-3459)gGa>gAa p.G1153E NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1153 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.G1153V(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTGACCCCAGGATTGAGCTTC 0.537000 7 88 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543206 133543206 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:133543206G>A ENST00000409261.1 - 14 1551 c.1178C>T c.(1177-1179)cCa>cTa p.P393L NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P393L NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 393 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 GATACGAGTTGGAGGTAGTTC 0.413000 17 38 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179701959 179701959 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:179701959C>T ENST00000420890.2 - 23 4104 c.3987G>A c.(3985-3987)gaG>gaA p.E1329E CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.E754E NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 754 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GTAAAGCTCTCTCATGCACTT 0.483000 19 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045922 9045922 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr19:9045922G>A ENST00000397910.4 - 5 35912 c.35709C>T c.(35707-35709)tcC>tcT p.S11903S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11905 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 TAGAGGCACTGGAAAGCCCAG 0.498000 88 92 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422649 26422649 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr22:26422649C>T ENST00000335473.7 + 43 6959 c.6709C>T c.(6709-6711)Ccg>Tcg p.P2237S MYO18B_ENST00000536101.1_Missense_Mutation_p.P2237S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P2238S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2237 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AAATACATCCCCGCTGTCGAG 0.592000 8 30 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111308 57111308 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:57111308G>A ENST00000454682.1 - 3 4287 c.4006C>T c.(4006-4008)Cca>Tca p.P1336S NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GTTACAGCTGGGGGAGTGGGG 0.632000 T BCL6 NHL 13 38 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216496828 216496828 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:216496828G>A ENST00000366943.2 - 8 1924 c.1538C>T c.(1537-1539)aCc>aTc p.T513I USH2A_ENST00000307340.3_Missense_Mutation_p.T513I|USH2A_ENST00000366942.3_Missense_Mutation_p.T513I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 513 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCACTAATGGTGATTTCGTC 0.373000 HNSCC(13;0.011) 103 58 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113848644 113848644 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:113848644G>A ENST00000504030.2 + 2 664 c.219_splice c.e2+1 p.V73_splice HTR3A_ENST00000355556.2_Splice_Site_p.V79_splice|HTR3A_ENST00000299961.5_Splice_Site_p.V58_splice|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Splice_Site_p.V73_splice|HTR3A_ENST00000375498.2_Splice_Site_p.V79_splice P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 73 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TCCTCAACGTGGTGAGGCTCA 0.562000 42 23 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74823702 74823702 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr14:74823702G>A ENST00000256362.4 + 2 457 c.216G>A c.(214-216)cgG>cgA p.R72R NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 72 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 ATGCTCCACGGAACATGCTGC 0.672000 29 27 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130187919 130187919 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:130187919G>A ENST00000265379.6 + 38 7565 c.7071G>A c.(7069-7071)ctG>ctA p.L2357L COL6A5_ENST00000432398.2_Silent_p.L2357L A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2357 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CTGTCTACCTGGAATTTGATT 0.463000 33 11 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4875599 4875599 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:4875599G>A ENST00000361571.5 - 15 3144 c.2733C>T c.(2731-2733)gcC>gcT p.A911A CAMTA2_ENST00000348066.3_Silent_p.A912A|CAMTA2_ENST00000381311.5_Silent_p.A914A|CAMTA2_ENST00000358183.4_Silent_p.A912A|CAMTA2_ENST00000572543.1_Silent_p.A917A|CAMTA2_ENST00000414043.3_Silent_p.A935A NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 912 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CTGGTGGGAGGGCAGGAAGGG 0.597000 8 97 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224157 27224157 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr1:27224157C>T ENST00000361720.5 - 2 534 c.511G>A c.(511-513)Gaa>Aaa p.E171K NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 171 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GTGAAGGCTTCATTCTCTGCC 0.557000 5 24 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469463 10469463 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr8:10469463G>A ENST00000382483.3 - 4 2368 c.2145C>T c.(2143-2145)gcC>gcT p.A715A NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 715 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGTTCCCAGAGGCCTGTGTCC 0.607000 12 33 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981006 61981006 + Splice_Site SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:61981006G>A ENST00000370263.4 - 5 1978 c.1758_splice c.e5+1 p.S586_splice CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 586 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GGGACTTACCGAGAAGTCTGT 0.687000 10 136 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46415394 46415394 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:46415394G>A ENST00000343801.4 + 3 1358 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q CCR5_ENST00000292303.4_Missense_Mutation_p.R334Q|CCR5_ENST00000445772.1_Missense_Mutation_p.R334Q|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 334 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity p.R334Q(1) central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GCTCCCGAGCGAGCAAGCTCA 0.512000 59 114 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73658637 73658637 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:73658637G>A ENST00000420326.2 - 4 852 c.693C>T c.(691-693)ttC>ttT p.F231F RECQL5_ENST00000584999.1_Silent_p.F231F|RECQL5_ENST00000423245.2_Silent_p.F204F|RECQL5_ENST00000317905.5_Silent_p.F231F|RECQL5_ENST00000340830.5_Silent_p.F231F NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 231 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TCAGTTCCTTGAATTGCACAT 0.522000 Other identified genes with known or suspected DNA repair function 134 326 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016325 27016325 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:27016325C>T ENST00000318627.2 + 1 698 c.252C>T c.(250-252)ttC>ttT p.F84F NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 84 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 GGGAGGAGTTCACCGTGCTGG 0.647000 3 31 0 0 1 0 0 KIAA0825 285600 broad.mit.edu 37 5 93859644 93859644 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:93859644G>A ENST00000513200.3 - 3 363 c.291C>T c.(289-291)ttC>ttT p.F97F KIAA0825_ENST00000329378.7_Silent_p.F97F|KIAA0825_ENST00000312498.7_Silent_p.F97F|KIAA0825_ENST00000427991.2_Silent_p.F97F NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 97 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 CCAGTGTTTTGAAAAATTTTA 0.303000 4 19 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65372878 65372878 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:65372878C>T ENST00000330909.8 - 15 2439 c.2440G>A c.(2440-2442)Gga>Aga p.G814R MAGI1_ENST00000483466.1_Missense_Mutation_p.G814R|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 814 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTGCTCAATCCCGACGCAGGT 0.373000 20 54 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207427000 207427000 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr2:207427000C>T ENST00000264377.3 + 13 1656 c.1328C>T c.(1327-1329)cCt>cTt p.P443L ADAM23_ENST00000374416.1_Missense_Mutation_p.P443L|ADAM23_ENST00000374415.3_Missense_Mutation_p.P443L NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 443 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CAATGGGAACCTTCTAGCAGA 0.403000 92 52 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134238 27134238 + Missense_Mutation SNP A A G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:27134238A>G ENST00000343060.4 - 2 890 c.829T>C c.(829-831)Ttc>Ctc p.F277L HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 277 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CGGTTCTGGAACCAGATCTTC 0.577000 35 80 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112130549 112130549 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:112130549C>T ENST00000455480.2 + 2 213 c.36C>T c.(34-36)ctC>ctT p.L12L ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L12L|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Silent_p.L12L NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 12 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CCCCCCGTCTCCAGTGGGTGT 0.612000 70 11 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829691 61829691 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:61829691C>T ENST00000280772.1 - 37 11139 c.10948G>A c.(10948-10950)Gat>Aat p.D3650N ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3650 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATACTTTTATCCCCTTCCCCC 0.473000 10 90 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729381 62729381 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr20:62729381C>T ENST00000349451.3 + 5 872 c.460C>T c.(460-462)Cac>Tac p.H154Y OPRL1_ENST00000355631.4_Missense_Mutation_p.H154Y|OPRL1_ENST00000336866.2_Missense_Mutation_p.H154Y NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 154 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) AGCCATCTGCCACCCCATCCG 0.572000 18 179 0 0 1 0 0 SLC22A23 63027 broad.mit.edu 37 6 3284208 3284208 + Splice_Site SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:3284208C>T ENST00000436008.2 - 10 2067 c.1603_splice c.e10-1 p.G535_splice SLC22A23_ENST00000406686.3_Splice_Site_p.G527_splice|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Splice_Site_p.G246_splice|SLC22A23_ENST00000380302.4_Splice_Site_p.G246_splice A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 527 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) TGTCACTCATCCCTGGGGGAA 0.602000 8 39 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4839105 4839105 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:4839105G>A ENST00000399583.3 - 15 3319 c.3132C>T c.(3130-3132)gaC>gaT p.D1044D RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.D804D NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 1044 PDZ. 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) GACGGATCAGGTCCACAGCTC 0.632000 5 78 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1504440 1504440 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr16:1504440G>A ENST00000382745.4 - 13 1730 c.1125C>T c.(1123-1125)atC>atT p.I375I CLCN7_ENST00000262318.8_Silent_p.I351I|CLCN7_ENST00000448525.1_Silent_p.I351I NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 375 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) TGAAGACCGGGATCTCGTGGA 0.597000 10 55 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262989 140262989 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr5:140262989C>T ENST00000289272.2 + 1 1136 c.1136C>T c.(1135-1137)tCt>tTt p.S379F PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S379F|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCGTGACTCTGGCTCAAAT 0.532000 95 115 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128077182 128077182 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:128077182C>T ENST00000254730.6 + 6 1620 c.1566C>T c.(1564-1566)ttC>ttT p.F522F EEFSEC_ENST00000483457.1_Intron NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 522 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ACAGTGCCTTCGGCCAGAGCG 0.577000 25 46 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47360164 47360164 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:47360164C>T ENST00000545968.1 - 23 2269 c.2215G>A c.(2215-2217)Gag>Aag p.E739K MYBPC3_ENST00000256993.4_Missense_Mutation_p.E738K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E739K NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 738 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) TCTGCCCCCTCGACCGTGAAG 0.622000 6 28 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688295 55688295 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:55688295G>A ENST00000358433.2 - 1 721 c.722C>T c.(721-723)tCc>tTc p.S241F NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AATCATGTGGGAAGTACAGGT 0.378000 38 10 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117819628 117819628 + Silent SNP G G A rs138726121 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:117819628G>A ENST00000350763.4 - 15 4794 c.4383C>T c.(4381-4383)acC>acT p.T1461T TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Silent_p.T1097T|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.T1370T|TNC_ENST00000340094.3_Silent_p.T1097T|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Silent_p.T1097T NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1461 Fibronectin type-III 10. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGATCCCATCGGTAGCCATCC 0.433000 28 152 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580577 82580577 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:82580577G>A ENST00000423517.2 - 6 9664 c.9327C>T c.(9325-9327)tcC>tcT p.S3109S PCLO_ENST00000333891.8_Silent_p.S3109S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3040 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 TGCTGAAAATGGAGCCAGGTT 0.463000 15 22 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50341481 50341481 + Nonsense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:50341481G>A ENST00000376020.2 - 8 4022 c.3997C>T c.(3997-3999)Cga>Tga p.R1333* SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.R1217*|SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.R1333* NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1333 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) AGCAGCCCTCGCTGGGCCTCC 0.478000 11 2 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78969097 78969097 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:78969097C>T ENST00000545128.1 + 36 5673 c.5135C>T c.(5134-5136)cCc>cTc p.P1712L NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 777 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCTGATCCCCCCAGTGCCCAG 0.617000 2 5 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 8 1 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 7 463 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 3 4 --- --- --- --- ZNF367 195828 broad.mit.edu 37 9 99154819 99154835 + Splice_Site DEL CTTCAAAACACAAGGTT CTTCAAAACACAAGGTT - TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr9:99154819_99154835delCTTCAAAACACAAGGTT ENST00000375256.4 - 4 988 c.e4-1 NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) CTCAGGCAGCCTTCAAAACACAAGGTTAACACCTGTC 0.470 33 41 --- --- --- --- VCL 7414 broad.mit.edu 37 10 75867067 75867072 + In_Frame_Del DEL GGAGCC GGAGCC - TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr10:75867067_75867072delGGAGCC ENST00000211998.4 + 17 2608_2613 c.2514_2519delGGAGCC c.(2512-2520)cat>ca p.QEP838del VCL_ENST00000372755.3_In_Frame_Del_p.QEP838del|VCL_ENST00000417648.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 838 Linker (Pro-rich).|Pro-rich. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) TCCAACCTCAGGAGCCTGACTTCCCG 0.510 16 18 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 4 7 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59268350 59268351 + Frame_Shift_Ins INS - - G TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:59268350_59268351insG ENST00000320743.3 - 17 2986_2987 c.2700_2701insC c.(2698-2703)acgccafs p.P901fs LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 901 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TCAATATGGCAGGTCCCTTTGA 0.401 T ROS1 NSCLC 8 918 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 12 210 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 7 80 --- --- --- --- MIR7162 102466227 broad.mit.edu 37 15 62538522 62538523 + RNA INS - - GA rs3055695 TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr15:62538522_62538523insGA ENST00000570077.1 - 0 693_694 GGGGGCTCCGGGTAGGGGTTCA 0.609 2 4 --- --- --- --- LLGL2 3993 broad.mit.edu 37 17 73569700 73569701 + Frame_Shift_Ins INS - - G rs112393371 byFrequency TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chr17:73569700_73569701insG ENST00000392550.3 + 21 2981_2982 c.2864_2865insG c.(2863-2865)cagfs p.Q955fs LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCCA 0.668 8 40 --- --- --- --- SPIN3 169981 broad.mit.edu 37 X 57021207 57021216 + Frame_Shift_Del DEL CCATCCGTGC CCATCCGTGC - TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24e75632-ffa8-4762-abae-360c6bbe0c7e 2b317c56-0025-4bed-93e4-70d9a1cb6815 g.chrX:57021207_57021216delCCATCCGTGC ENST00000374919.3 - 2 487_496 c.165_174delGCACGGATGG c.(163-174)cafs p.QHGW55fs NM_001010862.2 NP_001010862.2 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 55 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 CTCCATCTTTCCATCCGTGCTGAATTCTGC 0.486 30 148 --- --- --- ---