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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 29 0 0 0.009096 0 0 HADHA 3030 broad.mit.edu 37 2 26416532 26416532 + Missense_Mutation SNP G G C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr2:26416532G>C ENST00000380649.3 - 17 1928 c.1799C>G c.(1798-1800)gCg>gGg p.A600G NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 600 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding p.A600G(1) autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) CAGATCTTCCGCCACATGTTT 0.547000 22 162 0 0 0.076483 0 0 DDX50 79009 broad.mit.edu 37 10 70679718 70679718 + Missense_Mutation SNP T T C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr10:70679718T>C ENST00000373585.3 + 8 1327 c.1220T>C c.(1219-1221)aTg>aCg p.M407T DDX50_ENST00000466265.1_3'UTR NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 407 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding p.M407T(1) breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 GAAATGGCCATGAATCCACAC 0.388000 5 113 0 0 0.021553 0 0 MYRIP 25924 broad.mit.edu 37 3 40231754 40231754 + Missense_Mutation SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr3:40231754C>T ENST00000302541.6 + 10 1807 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R302C|MYRIP_ENST00000444716.1_Missense_Mutation_p.R489C|MYRIP_ENST00000425621.1_Missense_Mutation_p.R489C|MYRIP_ENST00000396217.3_Missense_Mutation_p.R400C NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 489 Myosin-binding. intracellular protein transport actin binding|zinc ion binding p.R489C(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TGAGAAGATGCGCTTGCATGG 0.647000 4 63 0 0 0.009096 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146629 156146629 + Silent SNP A A T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr1:156146629A>T ENST00000368285.3 + 15 2394 c.2127A>T c.(2125-2127)gcA>gcT p.A709A SEMA4A_ENST00000368284.1_Silent_p.A577A|SEMA4A_ENST00000368286.2_Silent_p.A577A|SEMA4A_ENST00000355014.2_Silent_p.A709A|SEMA4A_ENST00000368282.1_Silent_p.A709A NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 709 axon guidance integral to membrane|plasma membrane receptor activity p.A709A(1) breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CATTGAGAGCACTCCGGGCTC 0.602000 4 41 0 0 0.009096 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 37 0 0 0.014758 0 0 PARP3 10039 broad.mit.edu 37 3 51982371 51982371 + Missense_Mutation SNP G G A TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr3:51982371G>A ENST00000417220.2 + 12 1965 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M PARP3_ENST00000398755.3_Missense_Mutation_p.V500M|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Missense_Mutation_p.V493M Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 493 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.V500M(1) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCAGCAAGTGGTGGTGCCCCA 0.647000 12 41 0 0 0.080935 0 0 AMER3 205147 broad.mit.edu 37 2 131521595 131521595 + Silent SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr2:131521595C>T ENST00000423981.1 + 2 2060 c.1950C>T c.(1948-1950)gtC>gtT p.V650V AMER3_ENST00000321420.4_Silent_p.V650V NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.V650V(1) CACCAGGGGTCCTGGGGTGTT 0.622000 6 19 0 0 0.021553 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 52 0 0 0.004672 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422639 47422639 + Missense_Mutation SNP T T G TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr19:47422639T>G ENST00000404338.3 + 1 707 c.707T>G c.(706-708)gTg>gGg p.V236G NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 236 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity p.V236G(2) AATGTAAACGTGGACTTGGCT 0.443000 3 74 0 0 0.004672 0 0 ASB18 401036 broad.mit.edu 37 2 237172866 237172866 + Silent SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr2:237172866C>T ENST00000409749.3 - 1 122 c.123G>A c.(121-123)acG>acA p.T41T AC079135.1_ENST00000415226.1_RNA NM_212556.2 NP_997721.2 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 41 intracellular signal transduction p.T41T(1) large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CGTCCACAGGCGTGATTTCAG 0.522000 3 37 0 0 0.009096 0 0 MYH7 4625 broad.mit.edu 37 14 23887505 23887505 + Silent SNP A A C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr14:23887505A>C ENST00000355349.3 - 30 4245 c.4083T>G c.(4081-4083)ctT>ctG p.L1361L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1361 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1361L(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCTTGGAAAGGACGCGCT 0.652000 3 79 0 0 0.004672 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 3 43 0 0 0.014758 0 0 DAP3 7818 broad.mit.edu 37 1 155707980 155707980 + Missense_Mutation SNP T T C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr1:155707980T>C ENST00000368336.5 + 13 1268 c.1144T>C c.(1144-1146)Ttc>Ctc p.F382L MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.F348L|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.F341L|DAP3_ENST00000343043.3_Missense_Mutation_p.F382L NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 382 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding p.F382L(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGAGCTGCTGTTCCTAAGTAA 0.502000 3 27 0 0 0.004672 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813779 106813779 + Missense_Mutation SNP C C A TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr8:106813779C>A ENST00000407775.2 + 8 1719 c.1469C>A c.(1468-1470)cCt>cAt p.P490H ZFPM2_ENST00000520492.1_Missense_Mutation_p.P358H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P358H|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P221H|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 490 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.P490H(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AATATTGGGCCTTCTTTCCCT 0.443000 21 114 1.22574e-08 1.4486e-08 0.069288 1 0 ARHGAP35 2909 broad.mit.edu 37 19 47422639 47422639 + Missense_Mutation SNP T T G TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr19:47422639T>G ENST00000404338.3 + 1 707 c.707T>G c.(706-708)gTg>gGg p.V236G NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 236 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity p.V236G(2) AATGTAAACGTGGACTTGGCT 0.443000 3 74 0 0 0.004672 0 0 ASB18 401036 broad.mit.edu 37 2 237172866 237172866 + Silent SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr2:237172866C>T ENST00000409749.3 - 1 122 c.123G>A c.(121-123)acG>acA p.T41T AC079135.1_ENST00000415226.1_RNA NM_212556.2 NP_997721.2 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 41 intracellular signal transduction p.T41T(1) large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CGTCCACAGGCGTGATTTCAG 0.522000 3 37 0 0 0.009096 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146629 156146629 + Silent SNP A A T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr1:156146629A>T ENST00000368285.3 + 15 2394 c.2127A>T c.(2125-2127)gcA>gcT p.A709A SEMA4A_ENST00000355014.2_Silent_p.A709A|SEMA4A_ENST00000368282.1_Silent_p.A709A|SEMA4A_ENST00000368286.2_Silent_p.A577A|SEMA4A_ENST00000368284.1_Silent_p.A577A NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 709 axon guidance integral to membrane|plasma membrane receptor activity p.A709A(1) breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CATTGAGAGCACTCCGGGCTC 0.602000 4 41 0 0 0.009096 0 0 PARP3 10039 broad.mit.edu 37 3 51982371 51982371 + Missense_Mutation SNP G G A TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr3:51982371G>A ENST00000417220.2 + 12 1965 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M PARP3_ENST00000431474.1_Missense_Mutation_p.V493M|PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Missense_Mutation_p.V500M Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 493 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.V500M(1) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCAGCAAGTGGTGGTGCCCCA 0.647000 12 41 0 0 0.080935 0 0 MYRIP 25924 broad.mit.edu 37 3 40231754 40231754 + Missense_Mutation SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr3:40231754C>T ENST00000302541.6 + 10 1807 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C MYRIP_ENST00000396217.3_Missense_Mutation_p.R400C|MYRIP_ENST00000425621.1_Missense_Mutation_p.R489C|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R489C|MYRIP_ENST00000539167.1_Missense_Mutation_p.R302C NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 489 Myosin-binding. intracellular protein transport actin binding|zinc ion binding p.R489C(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TGAGAAGATGCGCTTGCATGG 0.647000 4 63 0 0 0.009096 0 0 ZNF761 388561 broad.mit.edu 37 19 53945837 53945837 + RNA SNP T T C rs17855120 by1000genomes TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr19:53945837T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GGACCAGACTTTGCTTGACCT 0.512000 3 34 0 0 0.014758 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 29 0 0 0.009096 0 0 DAP3 7818 broad.mit.edu 37 1 155707980 155707980 + Missense_Mutation SNP T T C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr1:155707980T>C ENST00000368336.5 + 13 1268 c.1144T>C c.(1144-1146)Ttc>Ctc p.F382L DAP3_ENST00000535183.1_Missense_Mutation_p.F341L|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.F382L|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.F348L NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 382 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding p.F382L(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGAGCTGCTGTTCCTAAGTAA 0.502000 3 27 0 0 0.004672 0 0 MYH7 4625 broad.mit.edu 37 14 23887505 23887505 + Silent SNP A A C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr14:23887505A>C ENST00000355349.3 - 30 4245 c.4083T>G c.(4081-4083)ctT>ctG p.L1361L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1361 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1361L(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGCCTTGGAAAGGACGCGCT 0.652000 3 79 0 0 0.004672 0 0 AMER3 205147 broad.mit.edu 37 2 131521595 131521595 + Silent SNP C C T TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr2:131521595C>T ENST00000423981.1 + 2 2060 c.1950C>T c.(1948-1950)gtC>gtT p.V650V AMER3_ENST00000321420.4_Silent_p.V650V NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.V650V(1) CACCAGGGGTCCTGGGGTGTT 0.622000 6 19 0 0 0.021553 0 0 HADHA 3030 broad.mit.edu 37 2 26416532 26416532 + Missense_Mutation SNP G G C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr2:26416532G>C ENST00000380649.3 - 17 1928 c.1799C>G c.(1798-1800)gCg>gGg p.A600G NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 600 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding p.A600G(1) autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) CAGATCTTCCGCCACATGTTT 0.547000 22 162 0 0 0.076483 0 0 DDX50 79009 broad.mit.edu 37 10 70679718 70679718 + Missense_Mutation SNP T T C TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr10:70679718T>C ENST00000373585.3 + 8 1327 c.1220T>C c.(1219-1221)aTg>aCg p.M407T DDX50_ENST00000466265.1_3'UTR NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 407 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding p.M407T(1) breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 GAAATGGCCATGAATCCACAC 0.388000 5 113 0 0 0.021553 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813779 106813779 + Missense_Mutation SNP C C A TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr8:106813779C>A ENST00000407775.2 + 8 1719 c.1469C>A c.(1468-1470)cCt>cAt p.P490H RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P221H|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P358H|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P358H|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 490 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.P490H(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AATATTGGGCCTTCTTTCCCT 0.443000 21 114 1.22574e-08 1.44204e-08 0.069288 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 7 39 0 0 0.029380 0 0 AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 2 4 --- --- --- --- CWF19L2 143884 broad.mit.edu 37 11 107299527 107299530 + Frame_Shift_Del DEL AGCA AGCA - TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr11:107299527_107299530delAGCA ENST00000282251.5 - 8 1455_1458 c.1428_1431delTGCT c.(1426-1431)ttfs p.FA476fs CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.FA476fs NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 476 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TAAAATACCCAGCAAATGTAGACT 0.348 25 156 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65748001 65748002 + RNA INS - - TT rs1760975 TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 e956874c-3969-4986-9b7f-7d8c1b3f2160 g.chr14:65748001_65748002insTT ENST00000553754.1 - 0 300 TTCTTTCtttcttttttttttt 0.485 3 4 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr1:85331664_85331665insA ENST00000440886.1 - 1 177_178 c.139_140insT c.(139-141)taafs p.*47fs LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 47 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 CAGAGAATTAGAAAAAAAAATA 0.401 7 131 --- --- --- --- CWF19L2 143884 broad.mit.edu 37 11 107299527 107299530 + Frame_Shift_Del DEL AGCA AGCA - TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr11:107299527_107299530delAGCA ENST00000282251.5 - 8 1455_1458 c.1428_1431delTGCT c.(1426-1431)ttfs p.FA476fs CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.FA476fs NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 476 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TAAAATACCCAGCAAATGTAGACT 0.348 25 156 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 3 3 --- --- --- --- RP11-459C13.1 0 broad.mit.edu 37 17 3883462 3883463 + RNA INS - - A rs55913264 TCGA-44-6148-01A-11D-1753-08 TCGA-44-6148-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c7b3ac8-1352-49cd-8a8c-df6b19f6fd64 4b46ef04-665d-4e12-a28b-68df0681eef3 g.chr17:3883462_3883463insA ENST00000571890.1 + 0 92 gactccatctcaaaaaaaaaaa 0.495 3 5 --- --- --- ---