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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut C1orf158 93190 broad.mit.edu 37 1 12819314 12819314 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:12819314C>T uc001auh.2 + 3 513 c.297C>T c.(295-297)GAC>GAT p.D99D C1orf158_uc010obe.1_Silent_p.D99D NM_152290 NP_689503 Q8N1D5 CA158_HUMAN hypothetical protein LOC93190 99 ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GCACCTATGACGACCATTACA 0.567 NA 9 175 0 0 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166791 19166791 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:19166791G>A uc001bba.1 - 6 1823 c.1822C>T c.(1822-1824)CTG>TTG p.L608L NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 608 Helical; Name=2; (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGCAGTGTCAGCATCAGGAAG 0.632 NA 4 96 0 0 0 0 EIF4G3 8672 broad.mit.edu 37 1 21191633 21191633 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:21191633C>G uc001bec.2 - 16 2833 c.2577G>C c.(2575-2577)CAG>CAC p.Q859H EIF4G3_uc010odi.1_Missense_Mutation_p.Q463H|EIF4G3_uc010odj.1_Missense_Mutation_p.Q858H|EIF4G3_uc009vpz.2_Missense_Mutation_p.Q579H|EIF4G3_uc001bed.2_Missense_Mutation_p.Q859H|EIF4G3_uc001bef.2_Missense_Mutation_p.Q895H|EIF4G3_uc001bee.2_Missense_Mutation_p.Q865H NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 859 eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CAAGTTCTTTCTGCTTCTTCT 0.408 NA 3 109 0 0 0 0 ARID1A 8289 broad.mit.edu 37 1 27089711 27089711 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:27089711C>T uc001bmv.1 + 8 3040 c.2667C>T c.(2665-2667)GGC>GGT p.G889G ARID1A_uc001bmt.1_Silent_p.G889G|ARID1A_uc001bmu.1_Silent_p.G889G|ARID1A_uc001bmw.1_Silent_p.G506G NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 889 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CACCAGGGGGCATGAACCGGA 0.567 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 4 42 0 0 0 0 SFRS4 6429 broad.mit.edu 37 1 29475489 29475489 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:29475489C>G uc001bro.2 - 6 1291 c.918G>C c.(916-918)GAG>GAC p.E306D SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 306 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) ccactctcctctcctgactcc 0.189 NA 8 173 0 0 0 0 STIL 6491 broad.mit.edu 37 1 47717292 47717292 + Missense_Mutation SNP C C A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:47717292C>A uc001crc.1 - 17 3535 c.3380G>T c.(3379-3381)GGA>GTA p.G1127V TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.G1081V|STIL_uc010omo.1_Missense_Mutation_p.G1110V|STIL_uc001crd.1_Missense_Mutation_p.G1128V|STIL_uc001cre.1_Missense_Mutation_p.G1127V NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1127 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTGTAGGAGTCCATATCTCTT 0.378 NA 7 164 0.00198382 0.00212942 1 0 SMG5 23381 broad.mit.edu 37 1 156237465 156237465 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr1:156237465C>T uc001foc.3 - 10 1062 c.913G>A c.(913-915)GTG>ATG p.V305M SMG5_uc009wrv.2_5'Flank NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 305 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TCTGAGTCCACGGAGCTACAG 0.572 NA 3 11 0 0 0 0 OR5D16 390144 broad.mit.edu 37 11 55606601 55606601 + Missense_Mutation SNP T T C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:55606601T>C uc010rio.1 + 1 374 c.374T>C c.(373-375)TTT>TCT p.F125S NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TATGACCACTTTGTGGCCATT 0.443 NA 4 123 0 0 0 0 DDX6 1656 broad.mit.edu 37 11 118625459 118625459 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:118625459C>G uc001pub.2 - 13 1775 c.1414G>C c.(1414-1416)GAA>CAA p.E472Q DDX6_uc001pua.2_Missense_Mutation_p.E172Q|DDX6_uc001puc.2_Missense_Mutation_p.E472Q NM_004397 NP_004388 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 472 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity ovary(1) 1 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) CTGTGGTATTCTGCCACATAC 0.423 NA T IGH@ B-NHL 7 159 0 0 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120316154 120316154 + Missense_Mutation SNP T T A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr11:120316154T>A uc001pxl.1 + 16 1333 c.1326T>A c.(1324-1326)GAT>GAA p.D442E ARHGEF12_uc009zat.2_Missense_Mutation_p.D423E|ARHGEF12_uc010rzn.1_Missense_Mutation_p.D339E|ARHGEF12_uc009zau.1_Missense_Mutation_p.D339E NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 442 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CTGTTCCTGATGAAATGTCTG 0.353 NA T MLL AML 3 86 0 0 0 0 ERC1 23085 broad.mit.edu 37 12 1221439 1221439 + Missense_Mutation SNP A A T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:1221439A>T uc001qjb.2 + 6 1617 c.1376A>T c.(1375-1377)AAG>ATG p.K459M ERC1_uc001qiz.2_Intron|ERC1_uc001qjc.2_Intron|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.K459M|ERC1_uc010sdv.1_Intron|ERC1_uc009zdp.2_Missense_Mutation_p.K96M NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 459 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GAGCTGAAAAAGAAAGCGGCT 0.468 NA 7 127 0 0 0 0 CLEC4D 338339 broad.mit.edu 37 12 8672931 8672931 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:8672931G>A uc001qun.2 + 5 687 c.494G>A c.(493-495)CGC>CAC p.R165H NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 165 C-type lectin.|Extracellular (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) TTTAACCCACGCAGAGTGTAA 0.418 NA 5 78 0 0 0 0 TMPO 7112 broad.mit.edu 37 12 98941400 98941400 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:98941400C>T uc001tfj.2 + 9 1366 c.1129C>T c.(1129-1131)CTC>TTC p.L377F TMPO_uc001tfk.2_Missense_Mutation_p.L268F|TMPO_uc001tfl.2_RNA NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 377 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 GCCATTAGAACTCAGTGATTT 0.428 NA 6 58 0 0 0 0 SLC17A8 246213 broad.mit.edu 37 12 100784777 100784777 + Splice_Site SNP A A G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr12:100784777A>G uc010svi.1 + 3 668 c.355_splice c.e3-2 p.T119_splice SLC17A8_uc009ztx.2_Splice_Site_p.T119_splice NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TCTCATTTCCAGACAGCACAG 0.378 NA 8 92 0 0 0 0 SKA3 221150 broad.mit.edu 37 13 21729856 21729856 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr13:21729856C>G uc001unt.2 - 8 1308 c.1214G>C c.(1213-1215)CGA>CCA p.R405P SKA3_uc001unv.2_Missense_Mutation_p.R323P|SKA3_uc001unu.2_Intron NM_145061 NP_659498 Q8IX90 SKA3_HUMAN SKA3 405 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding 0 GCTGACATCTCGGATGTTCTG 0.328 NA 8 120 0 0 0 0 TMEM55B 90809 broad.mit.edu 37 14 20928987 20928987 + Missense_Mutation SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:20928987C>G uc001vxl.2 - 2 313 c.160G>C c.(160-162)GAG>CAG p.E54Q TMEM55B_uc001vxk.2_Missense_Mutation_p.E61Q NM_144568 NP_653169 Q86T03 TM55B_HUMAN transmembrane protein 55B isoform 2 54 Pro-rich. integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) GGATGCCCCTCGGGAAACGGG 0.587 NA 4 96 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23884264 23884264 + Silent SNP G G A rs3729831 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:23884264G>A uc001wjx.2 - 37 5605 c.5499C>T c.(5497-5499)AAC>AAT p.N1833N NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1833 Potential. 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 ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCGACTCTGCGTTGCGCTTCT 0.652 NA 7 154 0 0 0 0 ADCY4 196883 broad.mit.edu 37 14 24788554 24788554 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:24788554G>A uc001wov.2 - 22 2828 c.2822C>T c.(2821-2823)TCT>TTT p.S941F ADCY4_uc001wow.2_Missense_Mutation_p.S941F|ADCY4_uc010toh.1_Missense_Mutation_p.S627F|ADCY4_uc001wox.2_Missense_Mutation_p.S941F|ADCY4_uc001woy.2_Missense_Mutation_p.S941F NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 941 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) ATCCTGTCCAGAGGTGGCATT 0.527 NA 8 78 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64656947 64656947 + Silent SNP C C T rs145549349 by1000genomes TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr14:64656947C>T uc001xgm.2 + 99 18260 c.18030C>T c.(18028-18030)ATC>ATT p.I6010I SYNE2_uc001xgl.2_Silent_p.I6010I|SYNE2_uc010apy.2_Silent_p.I2395I|SYNE2_uc001xgn.2_Silent_p.I972I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Silent_p.I375I NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6010 Spectrin 5.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGATGTCATCGGATCAAGGT 0.403 NA 4 48 0 0 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562493 75562493 + Missense_Mutation SNP C C A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr15:75562493C>A uc002azs.1 + 18 2076 c.1999C>A c.(1999-2001)CCG>ACG p.P667T uc002azu.1_5'Flank|uc010ulz.1_5'Flank NM_001145224 NP_001138696 A6NDK9 GOG6C_HUMAN golgi autoantigen, golgin subfamily a, 6D 679 ovary(1) 1 TGACAACCCCCCGGTACAGCA 0.602 NA 5 107 1.02e-07 1.14e-07 1 0 FES 2242 broad.mit.edu 37 15 91433125 91433125 + Nonsense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr15:91433125C>T uc002bpv.2 + 8 1078 c.982C>T c.(982-984)CAG>TAG p.Q328* FES_uc010uqj.1_Nonsense_Mutation_p.Q270*|FES_uc010uqk.1_Nonsense_Mutation_p.Q310*|FES_uc002bpw.2_RNA|FES_uc010bny.2_Nonsense_Mutation_p.Q270*|FES_uc002bpx.2_Nonsense_Mutation_p.Q328*|FES_uc002bpy.2_Nonsense_Mutation_p.Q270* NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 328 Potential. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GTTCAGGCGGCAGGAGATGGT 0.637 NA 6 142 0 0 0 0 KIAA0430 9665 broad.mit.edu 37 16 15718917 15718917 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr16:15718917C>T uc002ddr.2 - 9 2260 c.2067G>A c.(2065-2067)CCG>CCA p.P689P KIAA0430_uc002ddq.2_Silent_p.P545P|KIAA0430_uc010uzv.1_Silent_p.P685P|KIAA0430_uc010uzw.1_Silent_p.P687P NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 688 peroxisome nucleotide binding|RNA binding 0 CCGAGTTTTTCGGCGTCGACA 0.483 NA 12 116 0 0 0 0 ZNF821 55565 broad.mit.edu 37 16 71898871 71898871 + Nonsense_Mutation SNP T T A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr16:71898871T>A uc010vmj.1 - 4 623 c.247A>T c.(247-249)AAA>TAA p.K83* ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_5'UTR|ZNF821_uc002fbf.2_Nonsense_Mutation_p.K41*|ZNF821_uc002fbg.3_Intron|ZNF821_uc002fbh.3_Nonsense_Mutation_p.K41*|ZNF821_uc002fbi.3_5'UTR NM_017530 NP_060000 O75541 ZN821_HUMAN zinc finger protein 821 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCTCCACTTTGACCACCCCT 0.522 NA 11 124 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 22 0 0 0 0 COASY 80347 broad.mit.edu 37 17 40716511 40716511 + Silent SNP C C G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:40716511C>G uc002hzz.2 + 4 1120 c.963C>G c.(961-963)CTC>CTG p.L321L COASY_uc010cyj.2_Silent_p.L350L|COASY_uc002iab.2_Silent_p.L26L|COASY_uc002iad.2_Silent_p.L321L|COASY_uc002iac.2_Silent_p.L321L|COASY_uc002iae.2_Silent_p.L116L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 321 Phosphopantetheine adenylyltransferase. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) TGAAGGACCTCAGACATACAG 0.527 NA 4 70 0 0 0 0 TTLL6 284076 broad.mit.edu 37 17 46847448 46847448 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:46847448G>A uc010wlo.1 - 15 2087 c.2052C>T c.(2050-2052)TCC>TCT p.S684S TTLL6_uc002iob.2_Silent_p.S377S|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.S437S|TTLL6_uc002iod.2_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 636 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 TGGTTTCTACGGAGGTTAAGT 0.443 NA 8 91 0 0 0 0 CHAD 1101 broad.mit.edu 37 17 48545610 48545610 + Missense_Mutation SNP C C G rs147638039 byFrequency TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:48545610C>G uc010dbr.2 - 1 618 c.565G>C c.(565-567)GGG>CGG p.G189R ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.G189R|ACSF2_uc010dbt.1_5'Flank NM_001267 NP_001258 O15335 CHAD_HUMAN chondroadherin precursor 189 LRR 5. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent ovary(2)|central_nervous_system(1) 3 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TCCAGGGCCCCGGGCTGCAGG 0.637 NA 3 113 0 0 0 0 AXIN2 8313 broad.mit.edu 37 17 63554319 63554319 + Silent SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr17:63554319C>T uc002jfi.2 - 2 709 c.420G>A c.(418-420)GAG>GAA p.E140E AXIN2_uc010den.1_Silent_p.E140E|AXIN2_uc002jfh.2_Silent_p.E140E|AXIN2_uc002jfj.1_Silent_p.E140E NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 140 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 TGCTGTTGTTCTCAATGTACC 0.453 NA Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 6 176 0 0 0 0 ACTL9 284382 broad.mit.edu 37 19 8808007 8808007 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr19:8808007C>T uc002mkl.2 - 1 1166 c.1045G>A c.(1045-1047)GGC>AGC p.G349S NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 349 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 CCCTCGAAGCCGGTGAAGAGC 0.637 NA 4 38 0 0 0 0 DPF1 8193 broad.mit.edu 37 19 38704349 38704349 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr19:38704349G>A uc002ohl.2 - 9 922 c.895C>T c.(895-897)CGG>TGG p.R299W DPF1_uc002ohm.2_Missense_Mutation_p.R343W|DPF1_uc002ohn.2_Missense_Mutation_p.R261W|DPF1_uc010xtu.1_Missense_Mutation_p.R317W|DPF1_uc010xtv.1_Missense_Mutation_p.R317W NM_004647 NP_004638 Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 isoform 299 PHD-type 1. induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding 0 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGGTAGGTCCGCACGGCTGCC 0.667 NA 4 65 0 0 0 0 PRKCE 5581 broad.mit.edu 37 2 46203655 46203655 + Missense_Mutation SNP T T G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr2:46203655T>G uc002rut.2 + 3 697 c.500T>G c.(499-501)GTC>GGC p.V167G NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 167 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GTCCATCAGGTCAACGGCCAC 0.577 NA 6 72 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168100193 168100193 + Missense_Mutation SNP A A G TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr2:168100193A>G uc002udx.2 + 8 2309 c.2291A>G c.(2290-2292)AAG>AGG p.K764R XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K589R|XIRP2_uc010fpq.2_Missense_Mutation_p.K542R|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 589 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GACGTTGAAAAGGGAGATGTA 0.373 NA 3 60 0 0 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18123449 18123449 + Missense_Mutation SNP G G A rs34336937 TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr20:18123449G>A uc002wqj.2 + 2 767 c.145G>A c.(145-147)GAC>AAC p.D49N CSRP2BP_uc002wqk.2_5'Flank NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 49 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 GGCATCAGTGGACTTATCGCA 0.537 NA 4 83 0 0 0 0 DGCR2 9993 broad.mit.edu 37 22 19028791 19028791 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr22:19028791G>A uc002zoq.1 - 9 1424 c.1176C>T c.(1174-1176)CTC>CTT p.L392L DGCR2_uc002zor.1_Silent_p.L168L|DGCR2_uc011agr.1_Silent_p.L348L NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 392 Cytoplasmic (Potential). cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) TCCTGCGGCCGAGGTTGAAGT 0.627 NA 5 47 0 0 0 0 EIF3D 8664 broad.mit.edu 37 22 36916654 36916654 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr22:36916654G>A uc003apq.2 - 7 663 c.547C>T c.(547-549)CGC>TGC p.R183C EIF3D_uc011amr.1_Missense_Mutation_p.R10C|EIF3D_uc003apr.2_Missense_Mutation_p.R183C|EIF3D_uc011ams.1_Missense_Mutation_p.R86C|EIF3D_uc011amt.1_Missense_Mutation_p.R134C NM_003753 NP_003744 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3 183 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity pancreas(1) 1 TCCAAGTAGCGCATCTTCATC 0.428 NA 3 46 0 0 0 0 CARD10 29775 broad.mit.edu 37 22 37891803 37891803 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr22:37891803C>T uc003asx.1 - 14 2270 c.2267G>A c.(2266-2268)CGG>CAG p.R756Q CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.R74Q|CARD10_uc003asw.1_Missense_Mutation_p.R470Q|CARD10_uc003asy.1_Missense_Mutation_p.R756Q NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 756 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) GTCCAGGTCCCGCAGAGTGAG 0.642 NA 6 32 0 0 0 0 TTLL3 26140 broad.mit.edu 37 3 9860559 9860559 + Missense_Mutation SNP G G C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr3:9860559G>C uc003btg.2 + 6 700 c.484G>C c.(484-486)GAG>CAG p.E162Q ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.E98Q|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.E98Q|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 162 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) GGTGAAGTCTGAGTGGAAGTC 0.468 NA 6 173 0 0 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083476 6083476 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr4:6083476G>A uc003giu.3 - 6 1237 c.961C>T c.(961-963)CGC>TGC p.R321C JAKMIP1_uc010idb.1_Missense_Mutation_p.R321C|JAKMIP1_uc010idc.1_Missense_Mutation_p.R156C|JAKMIP1_uc010idd.1_Missense_Mutation_p.R321C|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R156C|JAKMIP1_uc003giv.3_Missense_Mutation_p.R321C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R321C NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 321 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TCTCGTGAGCGTTTCAGCTGT 0.542 NA 6 70 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114290865 114290865 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr4:114290865G>A uc003ibe.3 + 43 11614 c.11514G>A c.(11512-11514)GAG>GAA p.E3838E ANK2_uc003ibd.3_Silent_p.E1744E|ANK2_uc003ibf.3_Silent_p.E1753E|ANK2_uc011cgc.1_Silent_p.E929E|ANK2_uc003ibg.3_Silent_p.E737E|ANK2_uc003ibh.3_Silent_p.E427E|ANK2_uc011cgd.1_Silent_p.E1140E NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3805 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACAGAGAGGAGAGCTCTCCGC 0.542 NA 7 47 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126241841 126241841 + Silent SNP T T C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr4:126241841T>C uc003ifj.3 + 1 4275 c.4275T>C c.(4273-4275)ATT>ATC p.I1425I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1425 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTGGAGATATTTTCAAGTCTA 0.423 NA 3 157 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13692178 13692178 + Missense_Mutation SNP T T C TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr5:13692178T>C uc003jfd.2 - 79 13832 c.13790A>G c.(13789-13791)TAC>TGC p.Y4597C DNAH5_uc003jfc.2_Missense_Mutation_p.Y765C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4597 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGCGGCAATGTAGTTCAAGTC 0.483 NA Kartagener_syndrome 4 76 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46661019 46661019 + Silent SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr6:46661019G>A uc003oyj.2 + 1 5154 c.5154G>A c.(5152-5154)CAG>CAA p.Q1718Q TDRD6_uc010jze.2_Silent_p.Q1712Q NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1718 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AGATAAAGCAGACTCTTGGGT 0.318 NA 3 59 0 0 0 0 NAPEPLD 222236 broad.mit.edu 37 7 102760426 102760426 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr7:102760426G>A uc003vbc.2 - 3 867 c.539C>T c.(538-540)GCG>GTG p.A180V NAPEPLD_uc003vbd.2_Missense_Mutation_p.A180V|NAPEPLD_uc011klj.1_Missense_Mutation_p.A253V|NAPEPLD_uc003vbe.2_RNA NM_198990 NP_945341 Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 180 phospholipid catabolic process membrane metal ion binding skin(1) 1 GATAAGGACCGCATCTATTGG 0.463 NA 4 157 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 119124919 119124919 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr9:119124919G>A uc004bjn.2 + 18 4777 c.4396G>A c.(4396-4398)GGC>AGC p.G1466S PAPPA_uc011lxq.1_Missense_Mutation_p.G841S NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1466 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CACCTGGAACGGCTCCTTCCA 0.532 NA 4 104 0 0 0 0 BEND2 139105 broad.mit.edu 37 X 18195820 18195820 + Missense_Mutation SNP G G A TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chrX:18195820G>A uc004cyj.3 - 10 1653 c.1499C>T c.(1498-1500)GCC>GTC p.A500V BEND2_uc010nfb.2_Missense_Mutation_p.A409V NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 500 BEN 1. ovary(3)|kidney(1)|central_nervous_system(1) 5 CTTAGGTTTGGCCATATTTTG 0.393 NA 4 183 0 0 0 0 RBM10 8241 broad.mit.edu 37 X 47045133 47045133 + Missense_Mutation SNP C C T TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chrX:47045133C>T uc004dhf.2 + 21 2753 c.2374C>T c.(2374-2376)CGG>TGG p.R792W RBM10_uc004dhg.2_Missense_Mutation_p.R714W|RBM10_uc004dhh.2_Missense_Mutation_p.R791W|RBM10_uc010nhq.2_Missense_Mutation_p.R715W|RBM10_uc004dhi.2_Missense_Mutation_p.R857W NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 792 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 TGAGATTCACCGGCGAGCCCA 0.572 NA 6 22 0 0 0 0 PRSS54 221191 broad.mit.edu 37 16 58319891 58319892 + Frame_Shift_Del DEL GT GT - TCGA-CN-4733-01A-02D-1870-08 TCGA-CN-4733-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12880a34-83d1-4075-b62a-9fc61d18ca09 7e2313fe-649e-42fd-8899-c002e6112c3f g.chr16:58319891_58319892delGT uc002enf.2 - 5 866_867 c.471_472delAC c.(469-474)ACACCAfs p.T157fs PRSS54_uc002eng.2_Frame_Shift_Del_p.T157fs|PRSS54_uc010vie.1_Frame_Shift_Del_p.T58fs NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 157_158 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 AAGACTGGTGGTGTATGCAGCA 0.545 NA 7 93 --- --- --- --- NA NA NA NA