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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample DNAJC11 55735 broad.mit.edu 37 1 6704689 6704689 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:6704689C>T uc001aof.2 - 10 1132 c.1026G>A c.(1024-1026)AAG>AAA p.K342K DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.K342K|DNAJC11_uc010nzu.1_Silent_p.K252K NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 342 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) GCCTGGAGATCTTCCTCTCAG 0.552 NaN 0 0 0 0.000491102 0 30 52 MTHFR 4524 broad.mit.edu 37 1 11854538 11854538 + Silent SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:11854538C>G uc001atc.1 - 8 1408 c.1224G>C c.(1222-1224)CTG>CTC p.L408L MTHFR_uc001atb.1_Silent_p.L431L NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 408 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) ACTTGCTCTTCAGGTAGAAGA 0.562 NaN 0 0 0 0.000229342 0 18 106 MACF1 23499 broad.mit.edu 37 1 39776610 39776610 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:39776610G>A uc010ois.1 + 27 3428 c.3223G>A c.(3223-3225)GCC>ACC p.A1075T MACF1_uc001cda.1_Missense_Mutation_p.A983T|MACF1_uc001cdc.1_Missense_Mutation_p.A162T|MACF1_uc009vvq.1_Missense_Mutation_p.A132T|MACF1_uc001cdb.1_Missense_Mutation_p.A162T NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1075 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCAGTCTCTAGCCAGCTCTAG 0.502 NaN 0 0 0 0.000147903 0 42 63 LEPRE1 64175 broad.mit.edu 37 1 43228147 43228147 + Splice_Site SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:43228147C>G uc001chv.2 - 2 579 c.466_splice c.e2-1 p.I156_splice LEPRE1_uc001chw.2_Splice_Site_p.I156_splice|LEPRE1_uc001chx.3_Splice_Site_p.I156_splice|LEPRE1_uc001chy.3_Intron NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACTTGTTGATCTAAGAATGAA 0.463 NaN 0 0 0 0.000147903 0 48 95 KIAA0467 23334 broad.mit.edu 37 1 43902989 43902989 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:43902989C>G uc001cjk.1 + 28 3947 c.3485C>G c.(3484-3486)TCT>TGT p.S1162C NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2061 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATGGGGGTCTCTCGGGGTATG 0.552 NaN 0 0 0 0.000295444 0 20 90 STIL 6491 broad.mit.edu 37 1 47728683 47728683 + Silent SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:47728683C>A uc001crc.1 - 15 2873 c.2718G>T c.(2716-2718)GGG>GGT p.G906G TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.G860G|STIL_uc010omo.1_Silent_p.G889G|STIL_uc001crd.1_Silent_p.G907G|STIL_uc001cre.1_Silent_p.G906G|STIL_uc001crf.1_Silent_p.G519G|STIL_uc001crg.1_Silent_p.G842G NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 906 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TACTGGCACCCCCTGTTGGTC 0.433 NaN 1 0 0.000274275 0.000274275 0.00417306 8 144 BTF3L4 91408 broad.mit.edu 37 1 52530608 52530608 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:52530608G>C uc001ctk.2 + 3 374 c.166G>C c.(166-168)GAG>CAG p.E56Q BTF3L4_uc001ctl.2_5'UTR|BTF3L4_uc010onh.1_RNA|BTF3L4_uc001ctm.2_Missense_Mutation_p.E56Q NM_152265 NP_689478 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 isoform 1 56 NAC-A/B. large_intestine(1) 1 TGGTATTGAAGAGGTATGATC 0.358 NaN 0 0 0 0.000175454 0 22 52 GPR88 54112 broad.mit.edu 37 1 101005559 101005559 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:101005559C>A uc001dth.2 + 2 1441 c.1037C>A c.(1036-1038)TCC>TAC p.S346Y NM_022049 NP_071332 Q9GZN0 GPR88_HUMAN G-protein coupled receptor 88 346 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) TTCCGCCGCTCCGTGCGCTCA 0.741 NaN 1 0 0.00024832 0.00024832 0.00378859 3 0 CELSR2 1952 broad.mit.edu 37 1 109793966 109793966 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:109793966C>T uc001dxa.3 + 1 1326 c.1265C>T c.(1264-1266)ACA>ATA p.T422I NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 422 Cadherin 3.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCCGAGTCACAGCCTCGGAT 0.557 NaN 0 0 0 0.000175454 0 19 60 CHIA 27159 broad.mit.edu 37 1 111853046 111853046 + Translation_Start_Site SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:111853046C>G uc001eas.2 + 2 60 c.-43C>G c.(-45--41)ATCAG>ATGAG CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Translation_Start_Site|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Translation_Start_Site|CHIA_uc001eau.2_Translation_Start_Site|CHIA_uc009wgd.2_Translation_Start_Site NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) ACCACAGAATCAGAACATATA 0.408 NaN 0 0 0 0.000219431 0 15 33 NBPF14 25832 broad.mit.edu 37 1 148004641 148004641 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:148004641G>C uc001eqq.2 - 22 2690 c.2673C>G c.(2671-2673)ATC>ATG p.I891M LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Missense_Mutation_p.I239M|NBPF14_uc010pac.1_Missense_Mutation_p.I464M NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 891 NBPF 10. cytoplasm ovary(1) 1 all_hematologic(923;0.032) GGGCGAAGCTGATATGCTCTT 0.438 NaN 0 0 0 0.000147903 0 158 192 MTMR11 10903 broad.mit.edu 37 1 149906158 149906158 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:149906158C>T uc001etl.3 - 7 860 c.609G>A c.(607-609)GAG>GAA p.E203E MTMR11_uc001etm.1_Silent_p.E131E|MTMR11_uc010pbm.1_Silent_p.E175E|MTMR11_uc010pbn.1_Silent_p.E45E NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 203 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCCGCTCAGTCTCCCAGTCTT 0.572 NaN 0 0 0 0.000409698 0 32 49 SELENBP1 8991 broad.mit.edu 37 1 151341538 151341538 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:151341538G>A uc001exx.2 - 4 349 c.302C>T c.(301-303)TCC>TTC p.S101F SELENBP1_uc010pcy.1_Missense_Mutation_p.S143F|SELENBP1_uc001exy.2_5'UTR|SELENBP1_uc001exz.2_5'UTR|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_5'UTR|SELENBP1_uc009wmt.2_5'UTR|SELENBP1_uc001eya.2_Missense_Mutation_p.S37F|SELENBP1_uc009wmu.2_5'UTR NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 101 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GATGCGAGAGGAGATGAGACT 0.592 NaN 0 0 0 0.000319135 0 40 52 SELENBP1 8991 broad.mit.edu 37 1 151341620 151341620 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:151341620G>C uc001exx.2 - 4 267 c.220C>G c.(220-222)CAC>GAC p.H74D SELENBP1_uc010pcy.1_Missense_Mutation_p.H116D|SELENBP1_uc001exy.2_Translation_Start_Site|SELENBP1_uc001exz.2_Translation_Start_Site|SELENBP1_uc010pcz.1_Intron|SELENBP1_uc009wms.2_Translation_Start_Site|SELENBP1_uc009wmt.2_Translation_Start_Site|SELENBP1_uc001eya.2_Missense_Mutation_p.H10D|SELENBP1_uc009wmu.2_Translation_Start_Site NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 74 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CATCCTGAGTGATGCAGCTCG 0.552 NaN 0 0 0 0.00058488 0 32 74 SPRR1A 6698 broad.mit.edu 37 1 152957821 152957821 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:152957821G>A uc009wnu.1 + 2 193 c.115G>A c.(115-117)GAG>AAG p.E39K SPRR1A_uc001faw.2_Missense_Mutation_p.E39K NM_005987 NP_005978 P35321 SPR1A_HUMAN small proline-rich protein 1A 39 2.|6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity 0 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAAAACCAAGGAGCCCTGCCA 0.652 NaN 0 0 0 0.000227799 0 30 125 ARHGEF2 9181 broad.mit.edu 37 1 155931990 155931990 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:155931990G>A uc001fmt.2 - 10 1243 c.1125C>T c.(1123-1125)CTC>CTT p.L375L ARHGEF2_uc001fmr.2_Silent_p.L347L|ARHGEF2_uc001fms.2_Silent_p.L374L|ARHGEF2_uc001fmu.2_Silent_p.L419L|ARHGEF2_uc010pgt.1_Silent_p.L348L|ARHGEF2_uc010pgu.1_Silent_p.L420L NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 375 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CGTGCCGCTTGAGCACGGCGG 0.637 NaN 0 0 0 0.000184323 0 25 44 GPATCH4 54865 broad.mit.edu 37 1 156565923 156565923 + Silent SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:156565923A>G uc001fpm.2 - 7 480 c.441T>C c.(439-441)ATT>ATC p.I147I APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Silent_p.I142I NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 142 intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CATCAGTCAGACTGTTAGGGG 0.428 NaN 0 0 0 6.4e-05 0 3 113 COPA 1314 broad.mit.edu 37 1 160267491 160267492 + Missense_Mutation DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:160267491_160267492CC>AA uc009wti.2 - 20 2415_2416 c.2021_2022GG>TT c.(2020-2022)TGG>TTT p.W674F COPA_uc001fvv.3_Missense_Mutation_p.W683F NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 674 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAGCTTTTCCCAGCAGTTCTT 0.475 NaN 0 0 0 6.4e-05 0 11 278 FCGR3B 2215 broad.mit.edu 37 1 161599754 161599754 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:161599754G>C uc009wul.2 - 3 407 c.133C>G c.(133-135)CTG>GTG p.L45V NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 45 Ig-like C2-type 1. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGCACTTCAGAGTCACACTG 0.532 NaN 0 0 0 0.00058488 0 31 308 SRGAP2 23380 broad.mit.edu 37 1 206623769 206623769 + Nonsense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:206623769C>G uc001hdy.2 + 16 2210 c.1877C>G c.(1876-1878)TCA>TGA p.S626* SRGAP2_uc010prt.1_Nonsense_Mutation_p.S549*|SRGAP2_uc001hdx.2_Nonsense_Mutation_p.S626*|SRGAP2_uc010pru.1_Nonsense_Mutation_p.S549*|SRGAP2_uc010prv.1_Nonsense_Mutation_p.S550* NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 713 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) GTTGAAGACTCAACCCAGGAT 0.552 NaN 0 0 0 6.40141e-05 0 8 23 IARS2 55699 broad.mit.edu 37 1 220276871 220276871 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:220276871G>A uc001hmc.2 + 8 1137 c.1033G>A c.(1033-1035)GAA>AAA p.E345K NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 345 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TTCTACTTTGGAAACAACATT 0.358 NaN 0 0 0 0.000184323 0 28 63 LYST 1130 broad.mit.edu 37 1 235922510 235922510 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:235922510C>T uc001hxj.2 - 23 6818 c.6643G>A c.(6643-6645)GAT>AAT p.D2215N LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2215 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 ovary(6)|breast(4)|central_nervous_system(2) 12 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) GGACTGTCATCTTCTGACCTG 0.547 NaN Chediak-Higashi_syndrome 0 0 0 0.000159656 0 35 74 KIF26B 55083 broad.mit.edu 37 1 245772624 245772624 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:245772624C>T uc001ibf.1 + 8 2148 c.1708C>T c.(1708-1710)CCC>TCC p.P570S KIF26B_uc010pyq.1_Missense_Mutation_p.P570S|KIF26B_uc001ibg.1_Missense_Mutation_p.P188S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 570 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GGGCATCATTCCCTGTGCCAT 0.532 NaN 0 0 0 6.40141e-05 0 11 18 OR2G2 81470 broad.mit.edu 37 1 247751675 247751675 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:247751675G>C uc010pyy.1 + 1 14 c.14G>C c.(13-15)AGA>ACA p.R5T NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGGATGGTGAGACATACCAAT 0.413 NaN 0 0 0 0.000491102 0 24 98 OR2G2 81470 broad.mit.edu 37 1 247751725 247751725 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:247751725G>C uc010pyy.1 + 1 64 c.64G>C c.(64-66)GAT>CAT p.D22H NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGGTTTTCTGATTATCCTCA 0.413 NaN 0 0 0 0.000147802 0 22 109 OR2G2 81470 broad.mit.edu 37 1 247752001 247752001 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:247752001G>A uc010pyy.1 + 1 340 c.340G>A c.(340-342)GAG>AAG p.E114K NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGGATCCACTGAGTGCGTCCT 0.527 NaN 0 0 0 0.000509022 0 40 122 OR2G2 81470 broad.mit.edu 37 1 247752462 247752462 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:247752462G>T uc010pyy.1 + 1 801 c.801G>T c.(799-801)AAG>AAT p.K267N NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) agCCAGCCAAGAGTAGATCCA 0.383 NaN 1 0 1.62957e-23 0.000374591 2.69465e-22 41 145 OR2G2 81470 broad.mit.edu 37 1 247752580 247752580 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:247752580G>T uc010pyy.1 + 1 919 c.919G>T c.(919-921)GTT>TTT p.V307F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATTAAAGAAAGTTCTAGCAAA 0.338 NaN 1 0 2.08457e-15 0.000339439 3.39619e-14 32 117 FBXO18 84893 broad.mit.edu 37 10 5959443 5959443 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:5959443G>C uc001iis.2 + 11 1944 c.1849G>C c.(1849-1851)GAA>CAA p.E617Q FBXO18_uc001iir.2_Missense_Mutation_p.E543Q|FBXO18_uc009xig.2_Missense_Mutation_p.E543Q|FBXO18_uc001iit.2_Missense_Mutation_p.E668Q NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 617 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GGAGTGCACAGAAGAGGCGCA 0.577 NaN 0 0 0 0.00047179 0 22 43 DCLRE1C 64421 broad.mit.edu 37 10 14974951 14974951 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:14974951G>C uc001inn.2 - 9 767 c.682C>G c.(682-684)CAT>GAT p.H228D DCLRE1C_uc010qbx.1_Missense_Mutation_p.H228D|DCLRE1C_uc001inl.2_Missense_Mutation_p.H108D|DCLRE1C_uc009xji.2_Missense_Mutation_p.H113D|DCLRE1C_uc001inm.2_Missense_Mutation_p.H108D|DCLRE1C_uc001ino.2_Missense_Mutation_p.H113D|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.H108D|DCLRE1C_uc001inq.2_Missense_Mutation_p.H108D|DCLRE1C_uc001inr.2_Missense_Mutation_p.H113D|DCLRE1C_uc009xjj.1_RNA NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 228 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 TTATTCACATGAACCTAAGGC 0.393 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 0 0 0 0.000132079 0 19 171 CACNB2 783 broad.mit.edu 37 10 18803285 18803285 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:18803285C>G uc001ipr.2 + 7 851 c.791C>G c.(790-792)CCC>CGC p.P264R CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.P236R|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.P209R|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.P210R|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.P210R|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.P216R|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 264 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAAAGAATGCCCTTCTTTAAG 0.468 NaN 0 0 0 0.000339439 0 29 142 SYT15 83849 broad.mit.edu 37 10 46967615 46967615 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:46967615C>T uc001jea.2 - 4 615 c.462G>A c.(460-462)TCG>TCA p.S154S SYT15_uc001jdz.2_Silent_p.S154S|SYT15_uc001jeb.2_Silent_p.S32S|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 154 Cytoplasmic (Potential).|C2 1. integral to membrane|plasma membrane 0 CATATTCCACCGAGAACCACA 0.622 NaN 0 0 0 0.000274275 0 9 95 C10orf81 79949 broad.mit.edu 37 10 115534019 115534019 + Nonsense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:115534019G>T uc001lat.1 + 8 1250 c.688G>T c.(688-690)GAA>TAA p.E230* C10orf81_uc001lar.1_Nonsense_Mutation_p.E236*|C10orf81_uc009xyc.1_Nonsense_Mutation_p.E148*|C10orf81_uc001las.1_Nonsense_Mutation_p.E148*|C10orf81_uc001lau.1_Nonsense_Mutation_p.E50* NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 230 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) TGATTCTGGTGAATCCATTGA 0.378 NaN 1 0 2.47316e-13 0.00058488 3.98229e-12 33 45 FAM160B1 57700 broad.mit.edu 37 10 116602857 116602857 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:116602857C>A uc001lcb.2 + 6 1023 c.688C>A c.(688-690)CAT>AAT p.H230N FAM160B1_uc001lcc.2_Missense_Mutation_p.H230N NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 230 lung(1) 1 TGAGCCTCCTCATCAGATGGA 0.473 NaN 1 0 1.99824e-07 0.000566183 3.17134e-06 18 64 FAM160B1 57700 broad.mit.edu 37 10 116602895 116602895 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:116602895C>T uc001lcb.2 + 6 1061 c.726C>T c.(724-726)CTC>CTT p.L242L FAM160B1_uc001lcc.2_Silent_p.L242L NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 242 lung(1) 1 TGGATAACCTCAGTGTCACCT 0.438 NaN 0 0 0 0.000175454 0 20 72 UROS 7390 broad.mit.edu 37 10 127505020 127505020 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:127505020C>G uc001liw.3 - 1 182 c.49G>C c.(49-51)GAT>CAT p.D17H UROS_uc001liv.3_5'Flank|UROS_uc010quh.1_5'Flank|UROS_uc001lix.3_Missense_Mutation_p.D17H|UROS_uc001liy.3_RNA|UROS_uc001liz.2_5'Flank NM_000375 NP_000366 P10746 HEM4_HUMAN uroporphyrinogen III synthase 17 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity 0 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) ATATACGGATCCTGGCCACAG 0.502 NaN 0 0 0 0.000566183 0 17 91 OSBPL5 114879 broad.mit.edu 37 11 3111812 3111812 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:3111812C>T uc001lxk.2 - 20 2532 c.2374G>A c.(2374-2376)GAG>AAG p.E792K OSBPL5_uc010qxq.1_Missense_Mutation_p.E703K|OSBPL5_uc009ydw.2_Missense_Mutation_p.E724K|OSBPL5_uc001lxl.2_Missense_Mutation_p.E724K|OSBPL5_uc001lxj.2_Missense_Mutation_p.E246K NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 792 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) CCATCCTGCTCCTCGTCTGAG 0.682 NaN 0 0 0 0.000566183 0 16 33 SPTY2D1 144108 broad.mit.edu 37 11 18637037 18637037 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:18637037C>T uc001moy.2 - 3 1000 c.784G>A c.(784-786)GAG>AAG p.E262K SPTY2D1_uc010rdi.1_Missense_Mutation_p.E262K NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 262 breast(1) 1 GATTTCTTCTCAGCATGAGGA 0.483 NaN 0 0 0 0.000147903 0 50 33 BBOX1 8424 broad.mit.edu 37 11 27148986 27148986 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:27148986G>A uc001mre.1 + 9 1518 c.1150G>A c.(1150-1152)GAG>AAG p.E384K BBOX1_uc009yih.1_Missense_Mutation_p.E384K|BBOX1_uc001mrg.1_Missense_Mutation_p.E384K NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 384 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) GCAGAGGGTGGAGAATGGAAA 0.413 NaN 0 0 0 0.000132079 0 19 50 QSER1 79832 broad.mit.edu 37 11 32975498 32975498 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:32975498C>G uc001mty.2 + 5 4153 c.3886C>G c.(3886-3888)CTC>GTC p.L1296V QSER1_uc001mtz.1_Missense_Mutation_p.L1057V|QSER1_uc001mua.2_Missense_Mutation_p.L801V NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1296 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) gcaagaacctctccactctac 0.333 NaN 0 0 0 0.000442599 0 9 17 HIPK3 10114 broad.mit.edu 37 11 33308267 33308267 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:33308267C>T uc001mul.1 + 2 577 c.307C>T c.(307-309)CAC>TAC p.H103Y HIPK3_uc001mum.1_Missense_Mutation_p.H103Y|HIPK3_uc009yjv.1_Missense_Mutation_p.H103Y NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 103 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 ACAGCAAGCTCACGTGCAGGC 0.502 NaN 0 0 0 9.7654e-05 0 19 19 SPI1 6688 broad.mit.edu 37 11 47397226 47397226 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:47397226C>T uc001nfc.1 - 2 323 c.100G>A c.(100-102)GAG>AAG p.E34K SPI1_uc001nfb.1_Missense_Mutation_p.E35K|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.E28K NM_003120 NP_003111 P17947 SPI1_HUMAN hematopoietic transcription factor PU.1 isoform 34 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 Lung(87;0.0967) GGGTAATACTCGTGCGTTTGG 0.622 NaN 0 0 0 0.000147903 0 44 36 MS4A3 932 broad.mit.edu 37 11 59828720 59828720 + Silent SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:59828720G>C uc001nom.2 + 2 215 c.87G>C c.(85-87)CTG>CTC p.L29L MS4A3_uc001non.2_Silent_p.L29L|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 29 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) CAGAAGAGCTGAATACTTCTG 0.478 NaN 0 0 0 0.000132358 0 37 70 CD6 923 broad.mit.edu 37 11 60785351 60785351 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:60785351C>T uc001nqq.2 + 11 1926 c.1703C>T c.(1702-1704)TCA>TTA p.S568L CD6_uc001nqp.2_Missense_Mutation_p.S568L|CD6_uc001nqr.2_Missense_Mutation_p.S536L|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.S527L NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 568 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 AGCACCTCTTCAGGGGAGGAT 0.567 NaN 0 0 0 0.000375601 0 22 61 HRASLS2 54979 broad.mit.edu 37 11 63320520 63320520 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:63320520C>T uc001nxg.1 - 4 464 c.405G>A c.(403-405)ACG>ACA p.T135T NM_017878 NP_060348 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 135 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity 0 CACCTACTGTCGTGACTGCAC 0.562 NaN 0 0 0 9.22233e-05 0 27 95 PLCB3 5331 broad.mit.edu 37 11 64032897 64032897 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:64032897C>T uc001nzb.2 + 25 2958 c.2958C>T c.(2956-2958)GTC>GTT p.V986V PLCB3_uc009ypg.1_Silent_p.V986V|PLCB3_uc009yph.1_Silent_p.V919V|PLCB3_uc009ypi.2_Silent_p.V986V NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 986 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GGAAGGCAGTCACCCTCACCC 0.682 NaN 0 0 0 3.86212e-05 0 8 19 SLC29A2 3177 broad.mit.edu 37 11 66134019 66134019 + Silent SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:66134019G>T uc001oht.2 - 8 979 c.750C>A c.(748-750)CCC>CCA p.P250P SLC29A2_uc001ohs.2_Silent_p.P130P|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.P130P|SLC29A2_uc001ohu.2_Silent_p.P250P|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 250 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 GGGGACTACTGGGAATCCCGT 0.582 NaN 1 0 6.40141e-05 6.40141e-05 0.000982083 10 35 ANKRD13D 338692 broad.mit.edu 37 11 67059207 67059207 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:67059207C>T uc001okc.1 + 6 781 c.270C>T c.(268-270)TTC>TTT p.F90F ANKRD13D_uc001okd.1_Silent_p.F177F|ANKRD13D_uc001oke.1_Silent_p.F90F NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 90 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCTTCATCTTCAAGGGCCAGG 0.612 NaN 0 0 0 0.000157383 0 7 42 USP35 57558 broad.mit.edu 37 11 77919932 77919932 + Silent SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:77919932C>G uc009yva.1 + 9 1761 c.1515C>G c.(1513-1515)CTC>CTG p.L505L USP35_uc001oze.2_Silent_p.L261L|USP35_uc001ozc.2_Silent_p.L73L|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.L116L|USP35_uc001ozf.2_Silent_p.L236L NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 505 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AGAACTTCCTCTCCGCATCCT 0.622 NaN 0 0 0 0.000147903 0 53 98 DYNC2H1 79659 broad.mit.edu 37 11 103152912 103152912 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:103152912G>T uc001pho.2 + 72 10910 c.10766G>T c.(10765-10767)TGG>TTG p.W3589L DYNC2H1_uc001phn.1_Missense_Mutation_p.W3596L|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3589 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CAATAGGAATGGGATACGTTT 0.284 NaN 1 0 5.01169e-05 0.000566183 0.000771019 13 83 PIH1D2 120379 broad.mit.edu 37 11 111941994 111941994 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:111941994G>A uc001pmq.3 - 4 397 c.315C>T c.(313-315)GTC>GTT p.V105V PIH1D2_uc009yyl.2_Silent_p.V105V|PIH1D2_uc001pmp.3_Silent_p.V105V|PIH1D2_uc010rws.1_Silent_p.V105V|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 isoform 1 105 ovary(1) 1 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) CAACATCAATGACTGTGTAAG 0.358 NaN 0 0 0 0.000191422 0 34 149 SCN4B 6330 broad.mit.edu 37 11 118023348 118023348 + Nonsense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:118023348C>T uc001pse.2 - 1 283 c.41G>A c.(40-42)TGG>TAG p.W14* SCN4B_uc010rxv.1_Nonsense_Mutation_p.W14* NM_174934 NP_777594 Q8IWT1 SCN4B_HUMAN sodium channel, voltage-gated, type IV, beta 14 voltage-gated sodium channel complex voltage-gated sodium channel activity skin(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126) AGTGCCCAGCCATCTCGCCGG 0.662 NaN 0 0 0 3.86212e-05 0 8 19 PRDM10 56980 broad.mit.edu 37 11 129817136 129817136 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr11:129817136C>T uc001qfm.2 - 5 656 c.424G>A c.(424-426)GAG>AAG p.E142K PRDM10_uc001qfj.2_Missense_Mutation_p.E56K|PRDM10_uc001qfk.2_Missense_Mutation_p.E56K|PRDM10_uc001qfl.2_Missense_Mutation_p.E56K|PRDM10_uc010sbx.1_Missense_Mutation_p.E56K|PRDM10_uc001qfn.2_Missense_Mutation_p.E142K|PRDM10_uc009zct.1_Missense_Mutation_p.E174K NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TCAGTGTCCTCGTCCTCATCC 0.582 NaN 0 0 0 0.000228196 0 37 38 NOP2 4839 broad.mit.edu 37 12 6670928 6670928 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:6670928C>T uc001qph.1 - 11 1277 c.1097G>A c.(1096-1098)GGA>GAA p.G366E NOP2_uc009zeq.1_Missense_Mutation_p.G82E|NOP2_uc001qpi.1_Missense_Mutation_p.G366E|NOP2_uc001qpj.1_Intron NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 370 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 GCTGGAGGCTCCCTGCAGCAT 0.607 NaN 0 0 0 0.000274275 0 9 9 CHD4 1108 broad.mit.edu 37 12 6692229 6692229 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:6692229C>G uc001qpo.2 - 27 4275 c.4111G>C c.(4111-4113)GAG>CAG p.E1371Q CHD4_uc001qpn.2_Missense_Mutation_p.E1364Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1396Q|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1371 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCACCTTCCTCTGAAGCCACT 0.498 NaN 0 0 0 0.000229342 0 22 76 CHD4 1108 broad.mit.edu 37 12 6692529 6692529 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:6692529C>G uc001qpo.2 - 26 4059 c.3895G>C c.(3895-3897)GAA>CAA p.E1299Q CHD4_uc001qpn.2_Missense_Mutation_p.E1292Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1296Q|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1299 Poly-Glu. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATTTCCCGTTCTACCTCCTCT 0.532 NaN 0 0 0 0.000374591 0 40 166 DENND5B 160518 broad.mit.edu 37 12 31604993 31604993 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:31604993C>T uc001rki.1 - 5 1696 c.1510G>A c.(1510-1512)GAG>AAG p.E504K DENND5B_uc001rkh.1_Missense_Mutation_p.E539K|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.E526K|DENND5B_uc001rkk.1_Missense_Mutation_p.E426K NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 504 dDENN. integral to membrane ovary(1)|central_nervous_system(1) 2 GCAAAGACCTCTCGGAGCTGT 0.463 NaN 0 0 0 0.000437636 0 40 136 RPAP3 79657 broad.mit.edu 37 12 48061621 48061621 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:48061621G>C uc001rpr.2 - 15 1843 c.1727C>G c.(1726-1728)TCT>TGT p.S576C RPAP3_uc010slk.1_Missense_Mutation_p.S417C|RPAP3_uc001rps.2_Missense_Mutation_p.S542C NM_024604 NP_078880 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 isoform 576 binding ovary(1) 1 Lung SC(27;0.192) AGGATACAAAGATGGTTCAAT 0.294 NaN 0 0 0 0.000442599 0 9 40 MLL2 8085 broad.mit.edu 37 12 49420060 49420060 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:49420060C>A uc001rta.3 - 48 15689 c.15689G>T c.(15688-15690)TGT>TTT p.C5230F NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5230 FYR N-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ACCAATAGAACAGCGATAGCA 0.582 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 5.8336e-16 0.00058488 9.56053e-15 33 47 DIP2B 57609 broad.mit.edu 37 12 51074507 51074508 + Missense_Mutation DNP GG GG TT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:51074507_51074508GG>TT uc001rwv.2 + 9 1323_1324 c.1167_1168GG>TT c.(1165-1170)CTGGGG>CTTTGG p.G390W NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 390 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TTAATAAACTGGGGACCAAAAA 0.342 NaN 0 0 0 6.4e-05 0 12 509 CSRNP2 81566 broad.mit.edu 37 12 51467662 51467662 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:51467662G>A uc001rxu.1 - 3 653 c.355C>T c.(355-357)CGA>TGA p.R119* NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 119 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AGAATCTCTCGATGGTTCACC 0.532 NaN 0 0 0 0.000147903 0 52 93 KRT75 9119 broad.mit.edu 37 12 52822425 52822425 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:52822425C>T uc001saj.2 - 6 1160 c.1138G>A c.(1138-1140)GAG>AAG p.E380K NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 380 Coil 2.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) CTGTCAATCTCAGCTCTCAGC 0.507 NaN 0 0 0 0.00010058 0 11 54 KRT71 112802 broad.mit.edu 37 12 52943818 52943818 + Missense_Mutation SNP C C G rs140770876 TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:52943818C>G uc001sao.2 - 2 721 c.651G>C c.(649-651)AAG>AAC p.K217N NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 217 Coil 1B.|Rod. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) CTCACCTCTTCTTGTAGTCCT 0.592 NaN 0 0 0 0.000175454 0 19 99 HNRNPA1 3178 broad.mit.edu 37 12 54675662 54675662 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:54675662G>A uc001sfl.2 + 3 320 c.216G>A c.(214-216)ATG>ATA p.M72I CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zng.2_Missense_Mutation_p.M72I|HNRNPA1_uc009znh.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zni.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfn.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.M27I|HNRNPA1_uc009znj.1_Missense_Mutation_p.M27I NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 72 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 ATGCAGCTATGAATGCAAGGC 0.463 NaN 0 0 0 7.07596e-05 0 18 39 ZBTB39 9880 broad.mit.edu 37 12 57397508 57397508 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:57397508G>A uc001sml.1 - 2 1280 c.1194C>T c.(1192-1194)TTC>TTT p.F398F RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 AGGAGAAAAGGAAAATACCAA 0.512 NaN 0 0 0 0.000491102 0 35 44 TBK1 29110 broad.mit.edu 37 12 64868152 64868152 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:64868152G>A uc001ssc.1 + 6 745 c.683G>A c.(682-684)CGT>CAT p.R228H NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 228 Protein kinase. I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) GAAGGGCCTCGTAGGAATAAA 0.383 NaN 0 0 0 0.000159656 0 35 142 CHST11 50515 broad.mit.edu 37 12 105151419 105151419 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:105151419G>A uc001tkx.1 + 4 1188 c.897G>A c.(895-897)CTG>CTA p.L299L CHST11_uc001tky.2_Silent_p.L294L|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 299 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 GCAGCTACCTGAAGTTCCCCA 0.512 NaN 0 0 0 3.86212e-05 0 11 37 BTBD11 121551 broad.mit.edu 37 12 108034099 108034099 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:108034099C>G uc001tmk.1 + 13 3270 c.2749C>G c.(2749-2751)CTT>GTT p.L917V BTBD11_uc001tmj.2_Missense_Mutation_p.L917V|BTBD11_uc001tml.1_Missense_Mutation_p.L454V|BTBD11_uc001tmm.1_5'UTR NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 917 integral to membrane DNA binding skin(2)|ovary(1) 3 TCCTCATTTTCTTAACAATAA 0.348 NaN 0 0 0 0.000151284 0 13 75 NCOR2 9612 broad.mit.edu 37 12 124968284 124968284 + Nonsense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:124968284G>C uc010tba.1 - 3 386 c.269C>G c.(268-270)TCA>TGA p.S90* NCOR2_uc010tay.1_Nonsense_Mutation_p.S90*|NCOR2_uc010taz.1_Nonsense_Mutation_p.S90*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.S90*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.S90*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.S90*|NCOR2_uc001ugk.1_Nonsense_Mutation_p.S90*|uc001ugl.2_RNA NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 90 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGCAGGTATGAGTGGGACTC 0.632 NaN 0 0 0 6.4e-05 0 2 6 POLR1D 51082 broad.mit.edu 37 13 28239829 28239829 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:28239829G>A uc001urp.2 + 3 226 c.108G>A c.(106-108)AAG>AAA p.K36K POLR1D_uc010aam.2_Silent_p.K8K|POLR1D_uc001urq.2_RNA NM_152705 NP_689918 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D isoform 2 Error:Variant_position_missing_in_Q9Y2S0_after_alignment termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) CCAGGATGAAGTGTCCTCTTG 0.403 NaN 0 0 0 0.000422831 0 15 37 USPL1 10208 broad.mit.edu 37 13 31231851 31231851 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:31231851C>T uc001utc.2 + 9 2069 c.1637C>T c.(1636-1638)TCA>TTA p.S546L USPL1_uc001utd.2_Missense_Mutation_p.S217L|USPL1_uc001ute.1_Missense_Mutation_p.S217L NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 546 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GAAACAGCCTCAGTAACTCAC 0.433 NaN 0 0 0 0.00058488 0 35 118 POSTN 10631 broad.mit.edu 37 13 38158988 38158988 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:38158988C>G uc001uwo.3 - 8 1091 c.973G>C c.(973-975)GAA>CAA p.E325Q POSTN_uc001uwp.3_Missense_Mutation_p.E325Q|POSTN_uc001uwr.2_Missense_Mutation_p.E325Q|POSTN_uc001uwq.2_Missense_Mutation_p.E325Q|POSTN_uc010teu.1_Missense_Mutation_p.E325Q|POSTN_uc010tev.1_Missense_Mutation_p.E325Q|POSTN_uc010tew.1_Missense_Mutation_p.E325Q|POSTN_uc010tex.1_Missense_Mutation_p.E240Q NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 325 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GTATTTCCTTCCAGCGTCTCA 0.378 NaN 0 0 0 0.000151284 0 12 76 DGKH 160851 broad.mit.edu 37 13 42742882 42742882 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:42742882C>T uc001uyl.1 + 11 1316 c.1295C>T c.(1294-1296)TCA>TTA p.S432L DGKH_uc010tfh.1_Missense_Mutation_p.S432L|DGKH_uc001uym.1_Missense_Mutation_p.S432L|DGKH_uc010tfi.1_Missense_Mutation_p.S187L|DGKH_uc010tfj.1_Missense_Mutation_p.S287L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.S287L|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 432 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TGGGGAGGTTCATATGACGAT 0.468 NaN 0 0 0 0.000339439 0 30 116 PCDH9 5101 broad.mit.edu 37 13 67799716 67799716 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:67799716C>T uc001vik.2 - 2 3549 c.2857G>A c.(2857-2859)GAC>AAC p.D953N PCDH9_uc001vil.2_Missense_Mutation_p.D953N|PCDH9_uc010thl.1_Missense_Mutation_p.D953N|PCDH9_uc001vin.3_Missense_Mutation_p.D953N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 953 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACTGGAGTGTCTGGTTTGAGA 0.512 NaN 0 0 0 0.000270559 0 37 134 COL4A1 1282 broad.mit.edu 37 13 110864269 110864270 + Splice_Site DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:110864269_110864270CC>AA uc001vqw.3 - 7 510 c.388_splice c.e7-1 p.G130_splice COL4A1_uc010agl.2_Splice_Site_p.G130_splice NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTCTCTCCCCCTGGGGAGACA 0.53 NaN 0 0 0 6.4e-05 0 10 200 SOX1 6656 broad.mit.edu 37 13 112722232 112722232 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:112722232C>A uc001vsb.1 + 1 320 c.260C>A c.(259-261)GCC>GAC p.A87D NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 87 HMG box. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) CGCCTGGGGGCCGAGTGGAAG 0.642 NaN 1 0 1.26484e-09 0.000157383 2.019e-08 6 27 RPGRIP1 57096 broad.mit.edu 37 14 21780097 21780097 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr14:21780097G>A uc001wag.2 + 8 1045 c.1045G>A c.(1045-1047)GAT>AAT p.D349N NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 349 Potential. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CCAACTGGAAGATGTGTCTAT 0.443 NaN 0 0 0 0.000157383 0 7 14 MYH7 4625 broad.mit.edu 37 14 23884264 23884264 + Silent SNP G G A rs3729831 TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 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 NaN 0 0 0 0.000147903 0 76 50 ARHGAP5 394 broad.mit.edu 37 14 32562188 32562188 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr14:32562188G>A uc001wrl.2 + 2 2552 c.2313G>A c.(2311-2313)AAG>AAA p.K771K ARHGAP5_uc001wrm.2_Silent_p.K771K|ARHGAP5_uc001wrn.2_Silent_p.K771K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 771 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTGCCAATAAGGACTTATCAG 0.398 NaN 0 0 0 0.000132079 0 18 71 RALGAPA1 253959 broad.mit.edu 37 14 36147182 36147182 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr14:36147182G>C uc001wti.2 - 21 3471 c.3080C>G c.(3079-3081)TCT>TGT p.S1027C RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1027C|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1040C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1074C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S925C NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1027 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CTGAAGAACAGAGTGGTGGAG 0.433 NaN 0 0 0 7.07596e-05 0 15 37 RALGAPA1 253959 broad.mit.edu 37 14 36219784 36219784 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr14:36219784G>A uc001wti.2 - 9 1306 c.915C>T c.(913-915)GTC>GTT p.V305V RALGAPA1_uc001wtj.2_Silent_p.V305V|RALGAPA1_uc010tpv.1_Silent_p.V305V|RALGAPA1_uc010tpw.1_Silent_p.V305V|RALGAPA1_uc001wtk.1_Silent_p.V156V NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 305 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 GCCAACGAATGACAATAACAC 0.418 NaN 0 0 0 0.000219431 0 12 24 RPL10L 140801 broad.mit.edu 37 14 47120421 47120421 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr14:47120421G>A uc001wwg.2 - 1 608 c.519C>T c.(517-519)TTC>TTT p.F173F NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 173 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 TAAACTTCGTGAAGCCCCACT 0.512 NaN 0 0 0 0.000147903 0 59 58 C14orf101 54916 broad.mit.edu 37 14 57099827 57099827 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr14:57099827C>G uc001xcm.2 + 13 1784 c.1662C>G c.(1660-1662)TTC>TTG p.F554L C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.F87L|C14orf101_uc001xco.2_Missense_Mutation_p.F87L NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 554 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) AGATTGTATTCAACCCTGAGG 0.373 NaN 0 0 0 0.000374591 0 42 24 FMN1 342184 broad.mit.edu 37 15 33192256 33192257 + Missense_Mutation DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:33192256_33192257CC>AA uc001zhf.3 - 10 2908_2909 c.2908_2909GG>TT c.(2908-2910)GGA>TTA p.G970L NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1193 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCTATTTCCTCCATTCATATAA 0.411 NaN 0 0 0 6.4e-05 0 10 287 RTF1 23168 broad.mit.edu 37 15 41749923 41749923 + Missense_Mutation SNP T T A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:41749923T>A uc001zny.2 + 4 523 c.511T>A c.(511-513)TCT>ACT p.S171T NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 171 Ser-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AGATTCAGACTCTTCCTCAGA 0.478 NaN 0 0 0 0.000319135 0 41 153 CDAN1 146059 broad.mit.edu 37 15 43026452 43026452 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:43026452C>T uc001zql.2 - 7 1346 c.1229G>A c.(1228-1230)CGA>CAA p.R410Q CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_Intron NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 410 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) ATAGGCAGCTCGAAGGCGGCC 0.557 NaN 0 0 0 0.000175454 0 20 57 UBR1 197131 broad.mit.edu 37 15 43360220 43360220 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:43360220C>G uc001zqq.2 - 6 740 c.674G>C c.(673-675)AGA>ACA p.R225T UBR1_uc010udk.1_Missense_Mutation_p.R225T NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 225 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACAATAGTATCTTTCATTTTT 0.289 NaN 0 0 0 0.000184323 0 23 93 DYX1C1 161582 broad.mit.edu 37 15 55790518 55790518 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:55790518G>A uc002adc.2 - 2 378 c.10C>T c.(10-12)CAG>TAG p.Q4* CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Nonsense_Mutation_p.Q4*|DYX1C1_uc002add.2_Nonsense_Mutation_p.Q4* NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 4 CS. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TCGCTAACCTGAAGAGGCATT 0.592 NaN 0 0 0 0.000602214 0 5 22 CCPG1 9236 broad.mit.edu 37 15 55790547 55790547 + Translation_Start_Site SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:55790547G>C uc002acy.2 - 1 236 c.-1181C>G c.(-1183--1179)ATCCG>ATGCG DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Translation_Start_Site|DYX1C1_uc002adc.2_Translation_Start_Site|DYX1C1_uc002add.2_Translation_Start_Site NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) AACGGGAGCGGATAGCGCGGC 0.632 NaN 0 0 0 6.4e-05 0 3 20 ADAM10 102 broad.mit.edu 37 15 58919991 58919991 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:58919991G>A uc002afd.1 - 10 1712 c.1268C>T c.(1267-1269)TCT>TTT p.S423F ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S122F|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 423 Peptidase M12B.|Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TTTGTCCCCAGATGTTGCTCT 0.353 NaN 0 0 0 0.000295444 0 22 66 PIF1 80119 broad.mit.edu 37 15 65114716 65114716 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:65114716C>T uc002ant.2 - 3 718 c.652G>A c.(652-654)GTC>ATC p.V218I PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.V218I|PIF1_uc002anu.2_Missense_Mutation_p.V218I NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 218 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 CCTTTCAGGACGGCCCTCAGC 0.622 NaN 0 0 0 0.00010058 0 11 30 LCTL 197021 broad.mit.edu 37 15 66845521 66845521 + Missense_Mutation SNP T T G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:66845521T>G uc002aqc.2 - 9 1130 c.998A>C c.(997-999)AAA>ACA p.K333T LCTL_uc002aqd.3_Missense_Mutation_p.K160T|LCTL_uc010bhw.2_Missense_Mutation_p.K31T NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 333 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 GGATGTGCCTTTAATGTAGCT 0.488 NaN 0 0 0 0.000147903 0 51 200 LINGO1 84894 broad.mit.edu 37 15 77907318 77907318 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:77907318G>T uc002bct.1 - 2 983 c.931C>A c.(931-933)CTC>ATC p.L311I LINGO1_uc002bcu.1_Missense_Mutation_p.L305I NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 311 Extracellular (Potential). negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 TGCAGCCGGAGCAGCTCATGC 0.627 NaN 1 0 0.000219431 0.000219431 0.00335712 15 69 C15orf42 90381 broad.mit.edu 37 15 90169198 90169198 + Silent SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr15:90169198G>C uc002boe.2 + 21 5508 c.5508G>C c.(5506-5508)CGG>CGC p.R1836R C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1836 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTGCCGTGCGGAGCTGCCTCT 0.617 NaN 0 0 0 0.000422831 0 16 32 MLST8 64223 broad.mit.edu 37 16 2256193 2256193 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:2256193G>A uc002coz.2 + 2 226 c.107G>A c.(106-108)CGG>CAG p.R36Q MLST8_uc002coy.2_Missense_Mutation_p.R36Q|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.R36Q|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Missense_Mutation_p.R36Q|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Missense_Mutation_p.R36Q|MLST8_uc010uvy.1_Missense_Mutation_p.R36Q|MLST8_uc002cpg.2_Missense_Mutation_p.R55Q|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.R36Q NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 36 WD 1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 ATCTGCACCCGGACGGTGCAG 0.701 NaN 0 0 0 0.000422831 0 16 46 CCNF 899 broad.mit.edu 37 16 2485829 2485829 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:2485829G>A uc002cqd.1 + 4 389 c.301G>A c.(301-303)GAA>AAA p.E101K CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 101 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) GGGGAATTTCGAAGCTGCTGT 0.458 NaN 0 0 0 0.000308642 0 16 47 CREBBP 1387 broad.mit.edu 37 16 3828129 3828129 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:3828129C>G uc002cvv.2 - 10 2200 c.1996G>C c.(1996-1998)GAA>CAA p.E666Q CREBBP_uc002cvw.2_Missense_Mutation_p.E628Q NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 666 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 haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CGTTTTTCTTCTAGTTCTTTT 0.403 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.000147903 0 104 64 KIAA0430 9665 broad.mit.edu 37 16 15727580 15727580 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:15727580C>G uc002ddr.2 - 5 1320 c.1127G>C c.(1126-1128)AGA>ACA p.R376T KIAA0430_uc002ddq.2_Missense_Mutation_p.R375T|KIAA0430_uc010uzv.1_Missense_Mutation_p.R372T|KIAA0430_uc010uzw.1_Missense_Mutation_p.R375T NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 375 peroxisome nucleotide binding|RNA binding 0 CTCACGGATTCTTTGCACAAC 0.428 NaN 0 0 0 0.000147903 0 50 196 GGA2 23062 broad.mit.edu 37 16 23491968 23491968 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:23491968C>G uc002dlq.2 - 10 1080 c.1004G>C c.(1003-1005)AGA>ACA p.R335T GGA2_uc010bxo.1_RNA NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN ADP-ribosylation factor binding protein 2 335 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.0386) AAACATACCTCTGGAGACAGG 0.498 NaN 0 0 0 0.000147802 0 29 24 ITGAL 3683 broad.mit.edu 37 16 30510399 30510399 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:30510399C>T uc002dyi.3 + 16 2013 c.1837C>T c.(1837-1839)CGG>TGG p.R613W ITGAL_uc002dyj.3_Missense_Mutation_p.R530W|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 613 FG-GAP 7.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CTGCAGCTCCCGGCCCGTGGT 0.572 NaN 0 0 0 8.12818e-05 0 7 25 CNOT1 23019 broad.mit.edu 37 16 58572154 58572154 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:58572154G>A uc002env.2 - 37 5445 c.5152C>T c.(5152-5154)CGA>TGA p.R1718* CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.R1713*|CNOT1_uc010vik.1_Nonsense_Mutation_p.R675* NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1718 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TATTCATCTCGACATTCAATT 0.373 NaN 0 0 0 0.000422831 0 16 45 HSD17B2 3294 broad.mit.edu 37 16 82131777 82131777 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:82131777C>T uc002fgv.2 + 5 1072 c.900C>T c.(898-900)ATC>ATT p.I300I NM_002153 NP_002144 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 300 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity ovary(1)|central_nervous_system(1) 2 NADH(DB00157) AGGACTACATCTTAGCACAGC 0.542 NaN 0 0 0 0.000491102 0 30 40 FAM57A 79850 broad.mit.edu 37 17 643751 643751 + Missense_Mutation SNP C C T rs144403190 TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:643751C>T uc002frp.2 + 4 456 c.415C>T c.(415-417)CGG>TGG p.R139W FAM57A_uc002frq.2_Intron|FAM57A_uc002frr.2_Missense_Mutation_p.R49W NM_024792 NP_079068 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 139 TLC. integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) GCAGAGGCTCCGGGGAGACCT 0.517 NaN 0 0 0 0.000602214 0 5 95 USP6 9098 broad.mit.edu 37 17 5041030 5041030 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:5041030C>G uc002gau.1 + 20 3140 c.910C>G c.(910-912)CTT>GTT p.L304V USP6_uc002gav.1_Missense_Mutation_p.L304V|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 304 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 skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CAGCATTGCTCTTAAGGTTCA 0.587 NaN T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 0 0 0 0.000147903 0 58 41 TMEM102 284114 broad.mit.edu 37 17 7339584 7339584 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:7339584G>C uc002ggx.1 + 3 559 c.286G>C c.(286-288)GAG>CAG p.E96Q FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.E96Q NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 96 Extracellular (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) TGGGATTCGCGAGGGCTCCCT 0.617 NaN 0 0 0 9.7654e-05 0 18 15 MYH10 4628 broad.mit.edu 37 17 8396109 8396109 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:8396109C>T uc002gll.2 - 31 4446 c.4350G>A c.(4348-4350)CAG>CAA p.Q1450Q MYH10_uc002glm.2_Silent_p.Q1481Q|MYH10_uc010cnx.2_Silent_p.Q1459Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1450 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CAAACTTCTTCTGCTTCTTCT 0.517 NaN 0 0 0 8.12818e-05 0 7 27 MYH3 4621 broad.mit.edu 37 17 10558329 10558330 + Missense_Mutation DNP CG CG AT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:10558329_10558330CG>AT uc002gmq.1 - 2 129_130 c.52_53CG>AT c.(52-54)CGG>ATG p.R18M NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 18 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTCTGACTTCCGGAGGAAAGGA 0.53 NaN 0 0 0 6.4e-05 0 6 107 TMEM97 27346 broad.mit.edu 37 17 26646275 26646275 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:26646275C>G uc002hat.2 + 1 155 c.10C>G c.(10-12)CCG>GCG p.P4A NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN transmembrane protein 97 4 Cytoplasmic (Potential). cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TATGGGGGCTCCGGCAACCAG 0.677 NaN 0 0 0 8.12818e-05 0 6 25 TMEM97 27346 broad.mit.edu 37 17 26646322 26646322 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:26646322C>T uc002hat.2 + 1 202 c.57C>T c.(55-57)CTC>CTT p.L19L NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN transmembrane protein 97 19 Helical; (Potential). cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TCTACTTCCTCAGCCACATCC 0.672 NaN 0 0 0 6.40141e-05 0 10 19 SEBOX 645832 broad.mit.edu 37 17 26691931 26691931 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:26691931G>A uc010wai.1 - 2 170 c.156C>T c.(154-156)TTC>TTT p.F52F SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Silent_p.F51F|SARM1_uc010waj.1_Intron NM_001080837 NP_001074306 Q9HB31 SEBOX_HUMAN SEBOX homeobox isoform 1 52 Homeobox. cell differentiation|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GCCCTTTGCTGAAGGTGGTCC 0.637 NaN 0 0 0 0.000157383 0 8 16 LIG3 3980 broad.mit.edu 37 17 33310224 33310224 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:33310224G>A uc002hik.1 + 2 308 c.200G>A c.(199-201)CGT>CAT p.R67H LIG3_uc002hii.2_Missense_Mutation_p.R67H|LIG3_uc002hij.2_Missense_Mutation_p.R67H|LIG3_uc010cth.1_Missense_Mutation_p.R76H NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 67 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) CTAAGATCACGTGCCACCTAC 0.517 NaN Other_BER_factors 0 0 0 0.000228196 0 38 77 SLFN13 146857 broad.mit.edu 37 17 33768156 33768156 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:33768156G>A uc002hjk.1 - 4 2482 c.2152C>T c.(2152-2154)CTC>TTC p.L718F SLFN13_uc010wch.1_Missense_Mutation_p.L718F|SLFN13_uc002hjl.2_Missense_Mutation_p.L718F|SLFN13_uc010ctt.2_Missense_Mutation_p.L400F|SLFN13_uc002hjm.2_Missense_Mutation_p.L387F NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 718 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGTGCTGAGAGAGGGGGAAGG 0.438 NaN 0 0 0 0.000339439 0 33 207 PEX12 5193 broad.mit.edu 37 17 33902981 33902981 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:33902981C>T uc002hjp.2 - 3 1516 c.900G>A c.(898-900)ATG>ATA p.M300I NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 300 Cytoplasmic (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACACAGTCTTCATTTTGGGTA 0.458 NaN 0 0 0 0.000375601 0 24 98 MRM1 79922 broad.mit.edu 37 17 34964825 34964825 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:34964825G>C uc002hne.2 + 5 1251 c.1036G>C c.(1036-1038)GAG>CAG p.E346Q MRM1_uc002hnf.2_Missense_Mutation_p.E151Q NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 346 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TTCAGGCCCAGAGAAAGAGAG 0.622 NaN 0 0 0 9.22233e-05 0 24 62 CDK12 51755 broad.mit.edu 37 17 37627781 37627781 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:37627781C>T uc010cvv.2 + 2 2282 c.1696C>T c.(1696-1698)CTG>TTG p.L566L CDK12_uc010wef.1_Silent_p.L565L|CDK12_uc002hrw.3_Silent_p.L566L NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 566 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 GCAACCACCTCTGCCTCCTTC 0.547 NaN TCGA Ovarian(9;0.13) 0 0 0 0.000147903 0 71 259 DBF4B 80174 broad.mit.edu 37 17 42828543 42828543 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:42828543C>T uc002ihf.2 + 14 1983 c.1770C>T c.(1768-1770)CTC>CTT p.L590L DBF4B_uc010wjc.1_Intron NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 590 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) TTGGACATCTCTGCCAGGCCA 0.552 NaN 0 0 0 0.000147903 0 46 42 ADAM11 4185 broad.mit.edu 37 17 42850284 42850284 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:42850284C>T uc002ihh.2 + 9 738 c.738C>T c.(736-738)ATC>ATT p.I246I ADAM11_uc010wjd.1_Silent_p.I46I NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 246 Extracellular (Potential).|Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) TAATTGTGATCAACGACCACC 0.612 NaN 0 0 0 0.000274275 0 9 29 EFTUD2 9343 broad.mit.edu 37 17 42942371 42942371 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:42942371C>T uc002ihn.2 - 14 1473 c.1212G>A c.(1210-1212)ACG>ACA p.T404T EFTUD2_uc010wje.1_Silent_p.T369T|EFTUD2_uc010wjf.1_Silent_p.T394T NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 404 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) GCTCCTCCTTCGTCAGGTGGA 0.547 NaN OREG0024466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000566183 0 18 83 MKS1 54903 broad.mit.edu 37 17 56288082 56288082 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:56288082G>A uc002ivr.1 - 11 1037 c.962C>T c.(961-963)TCA>TTA p.S321L MKS1_uc010wnq.1_Missense_Mutation_p.S118L|MKS1_uc002ivs.1_Missense_Mutation_p.S321L NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 321 B9. cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 GCCTTGGGCTGAAACTACGAG 0.438 NaN 0 0 0 0.000279167 0 29 59 MED13 9969 broad.mit.edu 37 17 60069976 60069976 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:60069976C>A uc002izo.2 - 11 2265 c.2188G>T c.(2188-2190)GAT>TAT p.D730Y NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 730 androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GATGTCCCATCTTCTACCTGC 0.239 NaN 1 0 3.09899e-07 0.000274275 4.90421e-06 9 52 DDX5 1655 broad.mit.edu 37 17 62496163 62496163 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:62496163G>A uc002jek.2 - 13 1970 c.1723C>T c.(1723-1725)CAG>TAG p.Q575* POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Nonsense_Mutation_p.Q575*|DDX5_uc002jej.2_Nonsense_Mutation_p.Q470*|DDX5_uc010wqa.1_Nonsense_Mutation_p.Q496* NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 575 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CCGTATTGCTGAGTGCTATCA 0.418 NaN T ETV4 prostate 0 0 0 0.00058488 0 36 51 SLC25A19 60386 broad.mit.edu 37 17 73282772 73282772 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:73282772G>C uc002jns.3 - 1 984 c.74C>G c.(73-75)TCT>TGT p.S25C SLC25A19_uc010dge.2_Missense_Mutation_p.S25C|SLC25A19_uc002jnv.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnu.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnw.3_Missense_Mutation_p.S25C|SLC25A19_uc002jnt.3_Missense_Mutation_p.S25C NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 25 Helical; Name=1; (Potential).|Solcar 1. integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) AACAAGTCCAGACACAGACCC 0.537 NaN 0 0 0 0.00024832 0 4 56 RECQL5 9400 broad.mit.edu 37 17 73658835 73658836 + Missense_Mutation DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr17:73658835_73658836CC>AA uc010dgl.2 - 4 650_651 c.494_495GG>TT c.(493-495)TGG>TTT p.W165F RECQL5_uc010dgk.2_Missense_Mutation_p.W138F|RECQL5_uc002jpb.1_Missense_Mutation_p.W165F|RECQL5_uc002joz.3_Missense_Mutation_p.W165F|RECQL5_uc002jpa.3_Missense_Mutation_p.W165F NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 165 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 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) AGTCATGCCCCCATTGGGAAAC 0.609 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 6.4e-05 0 10 180 MYOM1 8736 broad.mit.edu 37 18 3129298 3129298 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr18:3129298G>T uc002klp.2 - 18 3060 c.2726C>A c.(2725-2727)CCG>CAG p.P909Q MYOM1_uc002klq.2_Intron NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 909 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CTGTGGTGGCGGGGTAAGCTC 0.493 NaN OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.000602214 0.000602214 0.00908751 5 75 DTNA 1837 broad.mit.edu 37 18 32438313 32438313 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr18:32438313G>C uc010dmn.1 + 15 1517 c.1516G>C c.(1516-1518)GAG>CAG p.E506Q DTNA_uc010xbx.1_Missense_Mutation_p.E256Q|DTNA_uc002kxv.3_Missense_Mutation_p.E449Q|DTNA_uc002kxw.2_Missense_Mutation_p.E449Q|DTNA_uc010dmj.2_Missense_Mutation_p.E446Q|DTNA_uc002kxz.2_Missense_Mutation_p.E446Q|DTNA_uc002kxy.2_Missense_Mutation_p.E446Q|DTNA_uc010dml.2_Missense_Mutation_p.E446Q|DTNA_uc002kyb.3_Missense_Mutation_p.E503Q|DTNA_uc010dmm.2_Missense_Mutation_p.E506Q|DTNA_uc010xby.1_Missense_Mutation_p.E196Q|DTNA_uc010dmo.2_Missense_Mutation_p.E128Q|DTNA_uc002kyd.3_Missense_Mutation_p.E128Q|DTNA_uc010xbz.1_Missense_Mutation_p.E215Q|DTNA_uc010xca.1_Missense_Mutation_p.E158Q|DTNA_uc002kye.2_Missense_Mutation_p.E154Q NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 506 Potential. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GCCCACGCCAGAGAAGGCACA 0.512 NaN 0 0 0 0.000117367 0 25 22 CD226 10666 broad.mit.edu 37 18 67614163 67614163 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr18:67614163G>T uc010dqo.2 - 2 636 c.189C>A c.(187-189)TTC>TTA p.F63L CD226_uc002lkm.3_Missense_Mutation_p.F63L NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 63 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) GAGTAGGGCTGAAAATGGCTA 0.453 NaN 1 0 1.75199e-13 0.000184323 2.8293e-12 28 22 SOCS6 9306 broad.mit.edu 37 18 67992477 67992477 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr18:67992477G>A uc002lkr.1 + 2 889 c.573G>A c.(571-573)CTG>CTA p.L191L SOCS6_uc010dqq.2_Silent_p.L191L NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 191 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CCAATTCACTGAAGAGCTCGG 0.522 NaN 0 0 0 9.22233e-05 0 25 65 GZMM 3004 broad.mit.edu 37 19 549010 549010 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:549010G>A uc002low.1 + 4 482 c.437G>A c.(436-438)AGC>AAC p.S146N NM_005317 NP_005308 P51124 GRAM_HUMAN granzyme M precursor 146 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity 0 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) ACTCGGTGCAGCATGGCCGGC 0.682 NaN 0 0 0 3.59834e-05 0 6 19 STAP2 55620 broad.mit.edu 37 19 4333712 4333712 + Silent SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:4333712C>A uc002mab.2 - 3 373 c.276G>T c.(274-276)CGG>CGT p.R92R STAP2_uc002mac.2_Silent_p.R92R|STAP2_uc002mad.2_5'UTR NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 92 PH. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCCTGATCCCGGAGAATCA 0.547 NaN 1 0 3.59834e-05 3.59834e-05 0.000558247 6 41 PRR22 163154 broad.mit.edu 37 19 5784138 5784138 + Silent SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:5784138G>C uc002mdb.1 - 1 473 c.114C>G c.(112-114)CCC>CCG p.P38P PRR22_uc010xiv.1_Intron NM_153359 NP_699190 Q8IZ63 PRR22_HUMAN proline rich 22 isoform 2 38 0 GGGCCTGTTTGGGAGATGCCA 0.637 NaN 0 0 0 0.000566183 0 16 137 MUC16 94025 broad.mit.edu 37 19 9059205 9059205 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:9059205C>T uc002mkp.2 - 3 28445 c.28241G>A c.(28240-28242)AGA>AAA p.R9414K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9416 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTCAGGACCTCTGCTCATAGG 0.512 NaN 0 0 0 0.000147903 0 47 100 ZNF791 163049 broad.mit.edu 37 19 12738664 12738664 + Silent SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:12738664A>G uc002mua.2 + 4 483 c.321A>G c.(319-321)AAA>AAG p.K107K ZNF791_uc010xml.1_Silent_p.K75K|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 107 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCTGTGGAAAAGCCTTCATGC 0.433 NaN 0 0 0 0.00024832 0 4 231 ZSWIM4 65249 broad.mit.edu 37 19 13919937 13919937 + Silent SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:13919937C>G uc002mxh.1 + 5 1104 c.915C>G c.(913-915)CTC>CTG p.L305L ZSWIM4_uc010xng.1_Silent_p.L111L NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 305 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TGCTGATTCTCATGACCGAGC 0.697 NaN 0 0 0 0.000308642 0 15 42 PGLYRP2 114770 broad.mit.edu 37 19 15586931 15586931 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:15586931C>A uc002nbf.3 - 2 683 c.550G>T c.(550-552)GAT>TAT p.D184Y PGLYRP2_uc002nbg.3_Missense_Mutation_p.D184Y NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 184 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 GCTCCAATATCTGCAGTGGTG 0.542 NaN 1 0 2.39187e-15 0.000132079 3.88539e-14 21 137 PGLYRP2 114770 broad.mit.edu 37 19 15587202 15587202 + Silent SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:15587202C>G uc002nbf.3 - 2 412 c.279G>C c.(277-279)CTG>CTC p.L93L PGLYRP2_uc002nbg.3_Silent_p.L93L NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 93 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 CCTCCTTGGTCAGGCCTAACA 0.617 NaN 0 0 0 0.000274275 0 8 58 PGLYRP2 114770 broad.mit.edu 37 19 15587364 15587364 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:15587364C>T uc002nbf.3 - 2 250 c.117G>A c.(115-117)CAG>CAA p.Q39Q PGLYRP2_uc002nbg.3_Silent_p.Q39Q NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 39 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 CTGGCACTTTCTGCTCCAGCT 0.602 NaN 0 0 0 0.000602214 0 4 25 COMP 1311 broad.mit.edu 37 19 18895873 18895873 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:18895873C>G uc002nke.2 - 16 1783 c.1747G>C c.(1747-1749)GAG>CAG p.E583Q COMP_uc002nkd.2_Missense_Mutation_p.E550Q|COMP_uc010xqj.1_Missense_Mutation_p.E530Q NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 583 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 AACGTGCCCTCGAAGTCCACG 0.582 NaN 0 0 0 0.000151284 0 11 72 FBL 2091 broad.mit.edu 37 19 40329725 40329725 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:40329725C>T uc002omn.2 - 5 613 c.499G>A c.(499-501)GGG>AGG p.G167R FBL_uc002omm.1_Missense_Mutation_p.G81R|FBL_uc002omo.2_Missense_Mutation_p.G166R|FBL_uc010egr.2_Missense_Mutation_p.G167R NM_001436 NP_001427 P22087 FBRL_HUMAN fibrillarin 167 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding ovary(1) 1 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) GAGGCAGCCCCGAGGTAGAGA 0.602 NaN 0 0 0 7.07596e-05 0 19 70 SPTBN4 57731 broad.mit.edu 37 19 41025918 41025918 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:41025918G>A uc002ony.2 + 16 3600 c.3514G>A c.(3514-3516)GAG>AAG p.E1172K SPTBN4_uc002onx.2_Missense_Mutation_p.E1172K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1172K|SPTBN4_uc010egx.2_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1172 Spectrin 9. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCACTAGACGAGTGGCTGCC 0.682 NaN 0 0 0 3.86212e-05 0 9 24 ATP5SL 55101 broad.mit.edu 37 19 41944170 41944170 + Silent SNP C C T rs118187504 byFrequency TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:41944170C>T uc002oqw.1 - 2 174 c.168G>A c.(166-168)AGG>AGA p.R56R CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Silent_p.R62R|ATP5SL_uc010xwa.1_Silent_p.R62R|ATP5SL_uc002oqx.1_Silent_p.R56R|ATP5SL_uc002oqy.1_Silent_p.R56R|ATP5SL_uc002oqz.1_Silent_p.R56R|ATP5SL_uc002ora.1_Silent_p.R43R|ATP5SL_uc010xwb.1_Silent_p.R62R NM_018035 NP_060505 Q9NW81 AT5SL_HUMAN ATP5S-like 56 large_intestine(1)|breast(1) 2 GCAAGTAATCCCTCAGAGCCT 0.537 NaN 0 0 0 0.000147903 0 53 140 CBLC 23624 broad.mit.edu 37 19 45296769 45296769 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:45296769G>A uc002ozs.2 + 8 1239 c.1176G>A c.(1174-1176)GAG>GAA p.E392E CBLC_uc010ejt.2_Silent_p.E346E NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Cas-Br-M (murine) ecotropic retroviral 392 cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|skin(1) 6 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) GCCGCTGCGAGATCAAGGGCT 0.637 NaN M AML 0 0 0 0.000442599 0 8 15 TMEM143 55260 broad.mit.edu 37 19 48866581 48866581 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:48866581G>C uc002pix.1 - 2 240 c.231C>G c.(229-231)TTC>TTG p.F77L TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Missense_Mutation_p.F77L|TMEM143_uc010xzn.1_Missense_Mutation_p.F77L|TMEM143_uc010elw.1_Missense_Mutation_p.F77L|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.F77L|TMEM143_uc010xzq.1_Missense_Mutation_p.F77L|SYNGR4_uc002piz.2_5'Flank NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 77 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GCTCCTTGGAGAAGGGAATGA 0.652 NaN 0 0 0 0.00024832 0 4 44 PLEKHA4 57664 broad.mit.edu 37 19 49362856 49362856 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:49362856C>T uc002pkx.2 - 7 1113 c.562G>A c.(562-564)GAG>AAG p.E188K PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.E188K NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 188 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) ATGCGCCCCTCTTCCCCTCTG 0.677 NaN 0 0 0 3.59834e-05 0 5 34 NR1H2 7376 broad.mit.edu 37 19 50881040 50881040 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:50881040G>A uc010enw.2 + 4 370 c.94G>A c.(94-96)GAG>AAG p.E32K NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E32K|NR1H2_uc002psa.3_Missense_Mutation_p.E32K NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 32 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CACTGTAAAGGAGGAGGGTCC 0.647 NaN 0 0 0 3.86212e-05 0 10 51 ZNF611 81856 broad.mit.edu 37 19 53209076 53209076 + Nonsense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:53209076G>C uc002pzz.2 - 7 1549 c.1232C>G c.(1231-1233)TCA>TGA p.S411* ZNF611_uc010eqc.2_Nonsense_Mutation_p.S341*|ZNF611_uc010ydo.1_Nonsense_Mutation_p.S341*|ZNF611_uc010ydr.1_Nonsense_Mutation_p.S342*|ZNF611_uc010ydp.1_Nonsense_Mutation_p.S411*|ZNF611_uc010ydq.1_Nonsense_Mutation_p.S411*|ZNF611_uc002qaa.3_Nonsense_Mutation_p.S341* NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 411 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AGCCAGCTGTGAATGCCACGT 0.403 NaN 0 0 0 0.000147903 0 52 82 CACNG8 59283 broad.mit.edu 37 19 54485522 54485522 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr19:54485522G>C uc002qcs.1 + 4 800 c.694G>C c.(694-696)GAG>CAG p.E232Q MIR935_hsa-mir-935|MI0005757_5'Flank NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 233 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GCGCAGCCGCGAGGCGCACTG 0.577 NaN 0 0 0 0.000602214 0 4 6 PKDCC 91461 broad.mit.edu 37 2 42282449 42282449 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:42282449G>C uc002rsg.2 + 5 1317 c.1138G>C c.(1138-1140)GAG>CAG p.E380Q NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 380 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 GGGGGTGGACGAGACCCTGGC 0.647 NaN 0 0 0 0.000442599 0 9 43 INPP4A 3631 broad.mit.edu 37 2 99182196 99182196 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:99182196C>G uc002syy.2 + 21 2654 c.2261C>G c.(2260-2262)TCC>TGC p.S754C INPP4A_uc010yvj.1_Missense_Mutation_p.S715C|INPP4A_uc010yvk.1_Missense_Mutation_p.S715C|INPP4A_uc002syx.2_Missense_Mutation_p.S749C|INPP4A_uc010fik.2_Missense_Mutation_p.S83C NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 754 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 TCCAGCGCCTCCGCAGACATG 0.517 NaN 0 0 0 0.000319135 0 35 57 RABL2A 11159 broad.mit.edu 37 2 114399705 114399705 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:114399705G>A uc002tkn.3 + 9 900 c.686G>A c.(685-687)TGA>TAA p.*229* RABL2A_uc010flb.2_Silent_p.*229*|RABL2A_uc002tkl.3_Silent_p.*148*|RABL2A_uc002tkm.3_Silent_p.*166*|RABL2A_uc002tks.3_Silent_p.*230*|RABL2A_uc002tkr.2_Silent_p.*230*|RABL2A_uc002tkp.3_Intron NM_007082 NP_009013 Q9UBK7 RBL2A_HUMAN RAB, member of RAS oncogene family-like 2A 229 small GTPase mediated signal transduction GTP binding|GTPase activity skin(1) 1 CCCCACAGCTGAGGGGCTGGG 0.572 NaN 0 0 0 0.00010058 0 12 41 RALB 5899 broad.mit.edu 37 2 121043653 121043653 + Silent SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:121043653A>G uc002tmk.2 + 3 508 c.318A>G c.(316-318)GAA>GAG p.E106E RALB_uc010yys.1_Silent_p.E128E|RALB_uc002tml.2_Silent_p.E127E|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_Intron NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 106 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) CAACTGCCGAATTCAGGTATG 0.438 NaN 0 0 0 6.4e-05 0 3 79 NCKAP5 344148 broad.mit.edu 37 2 133543046 133543046 + Silent SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:133543046G>C uc002ttp.2 - 14 1712 c.1338C>G c.(1336-1338)CTC>CTG p.L446L NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 446 protein binding 0 GATACTCCTTGAGGCTGCTAC 0.458 NaN 0 0 0 0.000151284 0 14 44 GPD2 2820 broad.mit.edu 37 2 157406241 157406241 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:157406241G>A uc002tzf.3 + 7 1143 c.783G>A c.(781-783)GGG>GGA p.G261G GPD2_uc010zch.1_Silent_p.G34G|GPD2_uc002tzd.3_Silent_p.G261G|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 261 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 CCCAGACAGGGAAAGTGCGTG 0.522 NaN 0 0 0 0.000157383 0 7 18 SCN3A 6328 broad.mit.edu 37 2 165952024 165952024 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:165952024C>G uc002ucx.2 - 25 4920 c.4428G>C c.(4426-4428)AAG>AAC p.K1476N SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.K1427N|SCN3A_uc002ucz.2_Missense_Mutation_p.K1427N NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1476 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TACTTATCTTCTTTTTCTGCT 0.338 NaN 0 0 0 0.000151284 0 13 53 NAB1 4664 broad.mit.edu 37 2 191524441 191524441 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:191524441C>T uc002usb.2 + 4 1111 c.539C>T c.(538-540)TCC>TTC p.S180F NAB1_uc010fsc.2_Missense_Mutation_p.S180F|NAB1_uc010fsd.2_Missense_Mutation_p.S180F|NAB1_uc002usc.2_Missense_Mutation_p.S180F|NAB1_uc010zgh.1_Missense_Mutation_p.S180F NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 180 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) GACCTGGGCTCCCCCGCGTCC 0.632 NaN 0 0 0 3.59834e-05 0 6 13 CXCR1 3577 broad.mit.edu 37 2 219029263 219029263 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:219029263G>A uc002vhc.2 - 2 791 c.672C>T c.(670-672)TTC>TTT p.F224F NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 224 Cytoplasmic (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 TACGCAGGGTGAATCCATAGC 0.542 NaN 0 0 0 0.000147802 0 29 98 PSMD1 5707 broad.mit.edu 37 2 231947596 231947596 + Splice_Site SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:231947596G>C uc002vrn.1 + 13 1545 c.1414_splice c.e13-1 p.I472_splice PSMD1_uc002vrm.1_Splice_Site_p.I472_splice|PSMD1_uc010fxu.1_Splice_Site_p.I336_splice NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TTTTTCCTTAGATCGTTAGAC 0.368 NaN 0 0 0 0.000308642 0 13 43 DNAJB3 414061 broad.mit.edu 37 2 234652280 234652280 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:234652280C>T uc002vuz.2 - 1 382 c.283G>A c.(283-285)GAC>AAC p.D95N UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 3 95 protein folding heat shock protein binding|unfolded protein binding 0 TCGGCTGGGTCGCGGAAGCTG 0.627 NaN 0 0 0 0.000132079 0 17 56 RBM44 375316 broad.mit.edu 37 2 238726844 238726844 + Missense_Mutation SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr2:238726844A>G uc002vxi.3 + 3 1417 c.1285A>G c.(1285-1287)ACG>GCG p.T429A NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 428 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGAAGATAATACGTCCCTAAA 0.373 NaN 0 0 0 0.000219431 0 14 38 SOX12 6666 broad.mit.edu 37 20 306839 306839 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:306839C>T uc002wdh.2 + 1 601 c.271C>T c.(271-273)CGG>TGG p.R91W NM_006943 NP_008874 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 91 HMG box. cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding 0 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCCGTTCGTGCGGGAGGCGGA 0.567 NaN 0 0 0 3.59834e-05 0 6 30 IDH3B 3420 broad.mit.edu 37 20 2640192 2640192 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:2640192C>T uc002wgp.2 - 11 1059 c.1050G>A c.(1048-1050)AAG>AAA p.K350K IDH3B_uc002wgq.2_Silent_p.K350K|IDH3B_uc002wgr.2_Silent_p.K198K NM_006899 NP_008830 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3, beta subunit isoform 350 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) TGATCACCTTCTTCACCGCAT 0.507 NaN 0 0 0 0.000147903 0 64 367 PROKR2 128674 broad.mit.edu 37 20 5282740 5282740 + Silent SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:5282740G>C uc010zqw.1 - 2 1101 c.1101C>G c.(1099-1101)CTC>CTG p.L367L PROKR2_uc010zqx.1_Silent_p.L367L|PROKR2_uc010zqy.1_Silent_p.L367L NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 367 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 CGTTGGTTCTGAGGTCAAGGT 0.547 NaN HNSCC(71;0.22) 0 0 0 0.00010058 0 11 56 C20orf134 170487 broad.mit.edu 37 20 32255546 32255546 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:32255546G>A uc002wzt.2 + 1 1243 c.243G>A c.(241-243)AAG>AAA p.K81K NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron NM_001024675 NP_001019846 Q5JWF8 CT134_HUMAN hypothetical protein LOC170487 81 pancreas(1) 1 CACATCTCAAGAAGCGCAGCT 0.672 NaN 0 0 0 0.000274275 0 6 32 CEP250 11190 broad.mit.edu 37 20 34092575 34092576 + Missense_Mutation DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:34092575_34092576CC>AA uc002xcm.2 + 31 7049_7050 c.6378_6379CC>AA c.(6376-6381)CCCCAC>CCAAAC p.H2127N CEP250_uc010zve.1_Missense_Mutation_p.H1495N NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 2127 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGCCTTACCCCACAGCCACAA 0.54 NaN 0 0 0 6.4e-05 0 7 101 ACOT8 10005 broad.mit.edu 37 20 44483824 44483824 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:44483824G>A uc002xqa.1 - 2 317 c.236C>T c.(235-237)TCC>TTC p.S79F ACOT8_uc010zxe.1_Missense_Mutation_p.S79F|ACOT8_uc002xqc.1_Intron|ACOT8_uc010zxf.1_Intron|ZSWIM3_uc002xqd.2_5'Flank|ZSWIM3_uc010zxg.1_5'Flank NM_005469 NP_005460 O14734 ACOT8_HUMAN peroxisomal acyl-CoA thioesterase 1 isoform a 79 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GCAGTGCAGGGAGTGCACGTG 0.617 NaN 0 0 0 0.000147903 0 53 41 SLC12A5 57468 broad.mit.edu 37 20 44676624 44676624 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:44676624G>A uc010zxl.1 + 16 2057 c.1981G>A c.(1981-1983)GAG>AAG p.E661K SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E638K NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 661 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCCCAGGGCAGAGAAGGAGTG 0.617 NaN 0 0 0 0.000157383 0 8 8 PRIC285 85441 broad.mit.edu 37 20 62196310 62196310 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:62196310C>G uc002yfm.2 - 9 4757 c.3865G>C c.(3865-3867)GAG>CAG p.E1289Q PRIC285_uc002yfl.1_Missense_Mutation_p.E720Q NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1289 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GTGCTGGCCTCAGGCAGCACC 0.672 NaN 0 0 0 0.000219431 0 14 14 PRIC285 85441 broad.mit.edu 37 20 62196796 62196796 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:62196796C>T uc002yfm.2 - 9 4271 c.3379G>A c.(3379-3381)GAG>AAG p.E1127K PRIC285_uc002yfl.1_Missense_Mutation_p.E558K NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1127 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CGGTACCGCTCGGGCTCCGCG 0.706 NaN 0 0 0 6.40141e-05 0 7 9 PRIC285 85441 broad.mit.edu 37 20 62196802 62196802 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr20:62196802C>T uc002yfm.2 - 9 4265 c.3373G>A c.(3373-3375)GAG>AAG p.E1125K PRIC285_uc002yfl.1_Missense_Mutation_p.E556K NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1125 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CGCTCGGGCTCCGCGTGCAGC 0.701 NaN 0 0 0 6.40141e-05 0 7 9 NRIP1 8204 broad.mit.edu 37 21 16338775 16338776 + Missense_Mutation DNP GG GG TT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:16338775_16338776GG>TT uc002yjx.2 - 4 2336_2337 c.1738_1739CC>AA c.(1738-1740)CCA>AAA p.P580K NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 580 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GACATATGGTGGGGAATTCCAT 0.45 NaN 0 0 0 6.4e-05 0 14 402 KRTAP13-1 140258 broad.mit.edu 37 21 31768675 31768675 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:31768675C>G uc002yoa.2 + 1 284 c.271C>G c.(271-273)CCC>GCC p.P91A NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 91 5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 GCTCTGCAGTCCCTGCCAGAC 0.617 NaN 0 0 0 0.00010058 0 11 45 GART 2618 broad.mit.edu 37 21 34883639 34883639 + Missense_Mutation SNP T T C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:34883639T>C uc002yrx.2 - 17 2369 c.2234A>G c.(2233-2235)CAG>CGG p.Q745R GART_uc002yrz.2_Missense_Mutation_p.Q745R|GART_uc010gmd.2_Missense_Mutation_p.Q407R|GART_uc002yry.2_Missense_Mutation_p.Q745R NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 745 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) CTGCTCTGTCTGCTCCTTTGA 0.512 NaN 0 0 0 0.000147903 0 124 236 DSCAM 1826 broad.mit.edu 37 21 41505787 41505787 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:41505787C>G uc002yyq.1 - 19 4008 c.3556G>C c.(3556-3558)GAG>CAG p.E1186Q DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1186 Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCACCATCCTCTTTGGTCCGG 0.597 NaN 0 0 0 7.07596e-05 0 17 95 RRP1B 23076 broad.mit.edu 37 21 45104496 45104496 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:45104496C>T uc002zdk.2 + 10 1068 c.954C>T c.(952-954)CAC>CAT p.H318H RRP1B_uc002zdl.2_5'Flank NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 318 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) ACACGCCCCACTTCAACAGGA 0.483 NaN 0 0 0 9.7654e-05 0 18 80 TRPM2 7226 broad.mit.edu 37 21 45795809 45795809 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:45795809G>C uc002zet.1 + 7 1078 c.865G>C c.(865-867)GAC>CAC p.D289H TRPM2_uc002zeu.1_Missense_Mutation_p.D289H|TRPM2_uc002zew.1_Missense_Mutation_p.D289H|TRPM2_uc010gpt.1_Missense_Mutation_p.D289H|TRPM2_uc002zex.1_Missense_Mutation_p.D75H NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 289 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCTCGTGGACGACGGGACCCA 0.587 NaN 0 0 0 0.000132079 0 19 50 MCM3AP 8888 broad.mit.edu 37 21 47693430 47693430 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr21:47693430C>T uc002zir.1 - 7 2104 c.2068G>A c.(2068-2070)GAG>AAG p.E690K NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 690 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) GGCCGCAGCTCGTGGGGCAGG 0.612 NaN 0 0 0 0.00047179 0 23 44 PIWIL3 440822 broad.mit.edu 37 22 25131704 25131705 + Missense_Mutation DNP GG GG TT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:25131704_25131705GG>TT uc003abd.1 - 13 2021_2022 c.1604_1605CC>AA c.(1603-1605)CCC>CAA p.P535Q PIWIL3_uc011ajx.1_Missense_Mutation_p.P426Q|PIWIL3_uc011ajy.1_Missense_Mutation_p.P426Q|PIWIL3_uc010gut.1_Missense_Mutation_p.P535Q NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 535 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 TTATGCCCATGGGGGCTGTGAC 0.386 NaN 0 0 0 6.4e-05 0 8 234 EIF4ENIF1 56478 broad.mit.edu 37 22 31859020 31859020 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:31859020G>A uc003akz.1 - 6 849 c.685C>T c.(685-687)CAG>TAG p.Q229* EIF4ENIF1_uc003ala.1_Nonsense_Mutation_p.Q229*|EIF4ENIF1_uc003alb.1_Intron NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 229 nucleus protein binding|protein transporter activity ovary(1) 1 GTTTCAGACTGACTTGTGGGT 0.448 NaN 0 0 0 0.000566183 0 17 55 SH3BP1 23616 broad.mit.edu 37 22 38061588 38061588 + Nonsense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:38061588G>T uc003atj.1 + 17 2415 c.1528G>T c.(1528-1530)GAG>TAG p.E510* PDXP_uc003atm.1_Nonsense_Mutation_p.E201* Q9Y3L3 3BP1_HUMAN SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1); Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) CGCTGCAGTGGAGACAGCCTC 0.662 NaN 1 0 2.0095e-06 8.12818e-05 3.15297e-05 7 24 NPTXR 23467 broad.mit.edu 37 22 39218743 39218743 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:39218743G>A uc003awk.2 - 5 1528 c.1374C>T c.(1372-1374)GTC>GTT p.V458V NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 458 Pentaxin.|Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) CAATGCCCAGGACCTGGGCTG 0.617 NaN 0 0 0 0.00024832 0 4 25 GRAP2 9402 broad.mit.edu 37 22 40343185 40343185 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:40343185G>C uc003ayh.1 + 2 338 c.75G>C c.(73-75)TTG>TTC p.L25F GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.L25F|GRAP2_uc011aoo.1_5'UTR|GRAP2_uc011aop.1_Missense_Mutation_p.L25F|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.L25F NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 25 SH3 1. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GAGATGTTTTGAAGGTAGGTG 0.483 NaN 0 0 0 0.000147903 0 55 70 MCHR1 2847 broad.mit.edu 37 22 41077227 41077227 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:41077227C>T uc003ayz.2 + 2 832 c.564C>T c.(562-564)ATC>ATT p.I188I MCHR1_uc003aza.2_Silent_p.I77I NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 188 Helical; Name=3; (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 GCACCCTCATCACGGCCATGG 0.572 NaN 0 0 0 0.000147903 0 47 49 SCUBE1 80274 broad.mit.edu 37 22 43606163 43606163 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr22:43606163C>T uc003bdt.1 - 19 2555 c.2467G>A c.(2467-2469)GAA>AAA p.E823K NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 823 CUB. adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CAGACGCATTCAGCGTTGGCT 0.627 NaN 0 0 0 0.000151284 0 14 19 CHL1 10752 broad.mit.edu 37 3 440699 440699 + Splice_Site SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:440699G>A uc003bou.2 + 25 3477 c.3206_splice c.e25-1 p.E1069_splice CHL1_uc003bot.2_Splice_Site_p.E1085_splice|CHL1_uc003bow.1_Splice_Site_p.E1069_splice|CHL1_uc011asi.1_Splice_Site_p.K1032_splice NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTCTACCACAGAATATGCTGG 0.348 NaN 0 0 0 0.00010058 0 9 207 THUMPD3 25917 broad.mit.edu 37 3 9424928 9424928 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:9424928C>T uc003bro.3 + 8 1318 c.1170C>T c.(1168-1170)ATC>ATT p.I390I LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Silent_p.I390I NM_001114092 NP_001107564 Q9BV44 THUM3_HUMAN THUMP domain containing 3 390 methyltransferase activity|protein binding|RNA binding ovary(1) 1 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) AGTGGGATATCTGCAATCTGC 0.418 NaN 0 0 0 9.7654e-05 0 18 128 TTLL3 26140 broad.mit.edu 37 3 9877038 9877038 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:9877038C>T uc003btg.2 + 13 2400 c.2184C>T c.(2182-2184)CCC>CCT p.P728P ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_3'UTR|TTLL3_uc003btf.3_3'UTR|TTLL3_uc003bth.3_3'UTR|TTLL3_uc011atj.1_3'UTR|TTLL3_uc003btj.3_3'UTR|TTLL3_uc003bti.3_3'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 728 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) TTCGATTCCCCACTGCCCTTG 0.552 NaN 0 0 0 0.000229342 0 23 78 C3orf31 132001 broad.mit.edu 37 3 11880710 11880710 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:11880710G>A uc003bwh.2 - 3 639 c.397C>T c.(397-399)CGA>TGA p.R133* C3orf31_uc003bwj.2_Nonsense_Mutation_p.R133*|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Nonsense_Mutation_p.R133*|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA NM_138807 NP_620162 Q96BW9 MMP37_HUMAN MMP37-like protein, mitochondrial precursor 133 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane 0 TTTTGGAGTCGTCCAGCAATG 0.229 NaN 0 0 0 0.000228196 0 35 54 ZFYVE20 64145 broad.mit.edu 37 3 15115948 15115948 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:15115948G>A uc003bzm.1 - 14 2310 c.1696C>T c.(1696-1698)CGC>TGC p.R566C ZFYVE20_uc010hek.1_Missense_Mutation_p.R566C NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 566 Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 AGGTGGGTGCGAGGCTCTCTG 0.567 NaN 0 0 0 0.000274275 0 9 32 OSBPL10 114884 broad.mit.edu 37 3 31921292 31921292 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:31921292G>A uc003cev.2 - 3 693 c.312C>T c.(310-312)ATC>ATT p.I104I OSBPL10_uc011axf.1_Silent_p.I104I NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 104 PH. lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) AATACTGCAGGATGCCAGCCT 0.478 NaN 0 0 0 0.000442599 0 10 46 NKTR 4820 broad.mit.edu 37 3 42678621 42678621 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:42678621G>C uc003clo.2 + 13 1572 c.1425G>C c.(1423-1425)ATG>ATC p.M475I NKTR_uc003clm.1_Missense_Mutation_p.M222I|NKTR_uc003clp.2_Missense_Mutation_p.M222I|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.M365I|NKTR_uc003clr.1_Missense_Mutation_p.M222I|NKTR_uc003cls.2_Missense_Mutation_p.M175I NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 475 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTCGAAGAATGAAATCCTCTT 0.393 NaN 0 0 0 0.000229342 0 19 67 TDGF1 6997 broad.mit.edu 37 3 46621544 46621544 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:46621544G>A uc003cpv.2 + 5 722 c.442G>A c.(442-444)GGC>AGC p.G148S LRRC2_uc003cpu.3_5'UTR NM_003212 NP_003203 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 148 activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ATTTCTACCCGGCTGTGGTAA 0.547 NaN 0 0 0 0.000184323 0 24 37 SHISA5 51246 broad.mit.edu 37 3 48510922 48510922 + Nonsense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:48510922G>A uc003ctp.1 - 5 615 c.481C>T c.(481-483)CAG>TAG p.Q161* SHISA5_uc003ctn.1_Missense_Mutation_p.S29L|SHISA5_uc003ctm.1_Nonsense_Mutation_p.Q58*|SHISA5_uc011bbk.1_Missense_Mutation_p.S69L|SHISA5_uc003cto.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctq.1_Nonsense_Mutation_p.Q154*|SHISA5_uc003ctr.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003cts.1_Nonsense_Mutation_p.Q130*|SHISA5_uc003ctt.2_Nonsense_Mutation_p.Q58*|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Nonsense_Mutation_p.Q59* NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 161 Cytoplasmic (Potential).|Pro-rich. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 CTTGGAGGCTGAGGATAAGGG 0.602 NaN 0 0 0 0.000157383 0 7 39 RHOA 387 broad.mit.edu 37 3 49405951 49405951 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:49405951G>T uc003cwu.2 - 3 463 c.187C>A c.(187-189)CAG>AAG p.Q63K RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 63 GTP (By similarity). Q->L: Causes constitutive activation. axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) TAATCTTCCTGCCCAGCTGTG 0.483 NaN 1 0 2.79863e-10 9.22233e-05 4.48025e-09 24 93 SEMA3G 56920 broad.mit.edu 37 3 52473745 52473745 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:52473745C>T uc003dea.1 - 12 1418 c.1418G>A c.(1417-1419)GGC>GAC p.G473D NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 473 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TTCAGCTGAGCCCCCTGCCTG 0.622 NaN 0 0 0 0.000157383 0 7 19 NT5DC2 64943 broad.mit.edu 37 3 52558849 52558849 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:52558849C>T uc003deo.2 - 13 1709 c.1285G>A c.(1285-1287)GAG>AAG p.E429K NT5DC2_uc003dem.2_Missense_Mutation_p.E299K|NT5DC2_uc003den.2_Missense_Mutation_p.E466K|NT5DC2_uc010hmi.2_Missense_Mutation_p.E441K|NT5DC2_uc010hmj.2_Missense_Mutation_p.E245K NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 429 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TCCTGCCGCTCTTTCATCCAG 0.657 NaN 0 0 0 0.000274275 0 9 31 CACNA1D 776 broad.mit.edu 37 3 53804028 53804028 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:53804028C>A uc003dgv.3 + 31 4062 c.3899C>A c.(3898-3900)CCA>CAA p.P1300Q CACNA1D_uc003dgu.3_Missense_Mutation_p.P1320Q|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Missense_Mutation_p.P967Q|CACNA1D_uc003dgx.1_Missense_Mutation_p.P476Q NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1300 Extracellular (Potential).|IV. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTCCCTGTCCCAACTGCTACA 0.438 NaN 1 0 2.17888e-05 0.000442599 0.000339942 8 228 PHLDB2 90102 broad.mit.edu 37 3 111603142 111603142 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:111603142C>T uc010hqa.2 + 2 629 c.218C>T c.(217-219)TCT>TTT p.S73F PHLDB2_uc003dyc.2_Missense_Mutation_p.S100F|PHLDB2_uc003dyd.2_Missense_Mutation_p.S73F|PHLDB2_uc003dyg.2_Missense_Mutation_p.S73F|PHLDB2_uc003dyh.2_Missense_Mutation_p.S73F|PHLDB2_uc003dye.3_Missense_Mutation_p.S73F|PHLDB2_uc003dyf.3_Missense_Mutation_p.S73F NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 73 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGAAGCCCTTCTCCTTTGGGA 0.443 NaN 0 0 0 0.000147903 0 131 301 WDR52 55779 broad.mit.edu 37 3 113114608 113114608 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:113114608G>C uc003eae.1 - 15 1925 c.1879C>G c.(1879-1881)CCC>GCC p.P627A NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 627 central_nervous_system(1) 1 TGAGACATGGGAGACCACATT 0.343 NaN 0 0 0 0.000339439 0 29 104 ATP6V1A 523 broad.mit.edu 37 3 113505209 113505209 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:113505209G>C uc003eao.2 + 6 761 c.695G>C c.(694-696)AGA>ACA p.R232T ATP6V1A_uc011bik.1_Missense_Mutation_p.R199T NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 232 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 ACTGGCCAGAGAGTCCTTGAT 0.428 NaN 0 0 0 0.000147903 0 168 184 GPR156 165829 broad.mit.edu 37 3 119886885 119886885 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:119886885G>T uc011bjf.1 - 9 1439 c.1439C>A c.(1438-1440)TCT>TAT p.S480Y GPR156_uc011bjg.1_Missense_Mutation_p.S476Y NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 480 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) TAAATGATCAGAAAAGTCTTT 0.532 NaN 1 0 4.4004e-07 0.00047179 6.94383e-06 25 135 NDUFB4 4710 broad.mit.edu 37 3 120315335 120315335 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:120315335G>A uc003edu.2 + 1 208 c.129G>A c.(127-129)CTG>CTA p.L43L NDUFB4_uc003edt.2_Silent_p.L43L NM_004547 NP_004538 O95168 NDUB4_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 43 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) GAGCCCAGCTGAAACGAGAGT 0.632 NaN 0 0 0 0.000184323 0 24 23 XRN1 54464 broad.mit.edu 37 3 142122729 142122729 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:142122729C>T uc003eus.2 - 17 2053 c.1986G>A c.(1984-1986)CTG>CTA p.L662L XRN1_uc010huu.2_Silent_p.L128L|XRN1_uc003eut.2_Silent_p.L662L|XRN1_uc003euu.2_Silent_p.L662L|XRN1_uc003euv.1_Silent_p.L523L NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 662 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TGATGTGTTTCAGAGTAGGAA 0.289 NaN 0 0 0 0.000586117 0 22 177 LXN 56925 broad.mit.edu 37 3 158386887 158386887 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:158386887G>A uc003fch.2 - 4 620 c.405C>T c.(403-405)CTC>CTT p.L135L GFM1_uc003fcd.2_Intron|GFM1_uc003fce.2_Intron|GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron|LXN_uc011bov.1_Silent_p.L135L NM_020169 NP_064554 Q9BS40 LXN_HUMAN latexin 135 cytoplasm metalloendopeptidase inhibitor activity|protein binding 0 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) AATGTAGAACGAGCGTCATTT 0.313 NaN 0 0 0 0.000175454 0 20 126 PLD1 5337 broad.mit.edu 37 3 171455826 171455826 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr3:171455826C>T uc003fhs.2 - 2 132 c.16G>A c.(16-18)GAG>AAG p.E6K PLD1_uc003fht.2_Missense_Mutation_p.E6K NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 6 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 ovary(2)|lung(1) 3 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) ACCCGTGGCTCGTTTTTCAGT 0.413 NaN 0 0 0 0.000566183 0 16 75 GAK 2580 broad.mit.edu 37 4 845581 845581 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:845581C>T uc003gbm.3 - 25 3664 c.3465G>A c.(3463-3465)GTG>GTA p.V1155V GAK_uc003gbn.3_Silent_p.V1076V|GAK_uc003gbk.3_5'UTR|GAK_uc010ibi.2_Silent_p.V380V|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.V1008V NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1155 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GCGCCCCGATCACACTGAAGT 0.657 NaN 0 0 0 0.00010058 0 10 28 ADD1 118 broad.mit.edu 37 4 2916622 2916622 + Silent SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:2916622G>C uc003gfr.2 + 13 1805 c.1617G>C c.(1615-1617)GTG>GTC p.V539V ADD1_uc003gfn.2_Intron|ADD1_uc003gfo.2_Silent_p.V570V|ADD1_uc003gfp.2_Silent_p.V539V|ADD1_uc003gfq.2_Silent_p.V570V|ADD1_uc003gfs.2_Silent_p.V570V NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 539 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGAGCTGGTGACGGCCTCCA 0.647 NaN 0 0 0 6.4e-05 0 3 78 KCNIP4 80333 broad.mit.edu 37 4 20734378 20734378 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:20734378C>T uc003gqe.2 - 6 601 c.517G>A c.(517-519)GAT>AAT p.D173N KCNIP4_uc003gqf.1_Missense_Mutation_p.D169N|KCNIP4_uc003gqg.1_Missense_Mutation_p.D128N|KCNIP4_uc003gqh.1_Missense_Mutation_p.D165N|KCNIP4_uc003gqi.1_Missense_Mutation_p.D128N|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Missense_Mutation_p.D170N|KCNIP4_uc003gqd.3_Missense_Mutation_p.D153N NM_147182 NP_671711 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 3 190 EF-hand 3. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) CCCATCATATCGTATATTGCT 0.378 NaN 0 0 0 7.07596e-05 0 17 44 EXOC1 55763 broad.mit.edu 37 4 56768579 56768579 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:56768579G>A uc003hbe.1 + 18 2565 c.2407G>A c.(2407-2409)GCA>ACA p.A803T EXOC1_uc003hbf.1_Missense_Mutation_p.A803T|EXOC1_uc003hbg.1_Missense_Mutation_p.A788T NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 803 exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) TTACCAACTTGCATTTAACAA 0.378 NaN 0 0 0 0.000295444 0 22 53 EPHA5 2044 broad.mit.edu 37 4 66361157 66361157 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:66361157C>T uc003hcy.2 - 4 1208 c.1015G>A c.(1015-1017)GAA>AAA p.E339K EPHA5_uc003hcx.2_Missense_Mutation_p.E270K|EPHA5_uc003hcz.2_Missense_Mutation_p.E339K|EPHA5_uc011cah.1_Missense_Mutation_p.E339K|EPHA5_uc011cai.1_Missense_Mutation_p.E339K|EPHA5_uc003hda.2_Missense_Mutation_p.E339K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 339 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TAATCCTTTTCACAGACACAA 0.468 NaN TSP Lung(17;0.13) 0 0 0 6.40141e-05 0 12 131 SEPT11 55752 broad.mit.edu 37 4 77926942 77926942 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:77926942G>A uc003hkj.2 + 3 493 c.331G>A c.(331-333)GAT>AAT p.D111N SEPT11_uc010ijh.1_Missense_Mutation_p.D103N|SEPT11_uc011cca.1_Missense_Mutation_p.D121N NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 111 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 GATAAATAAAGATGACAGGTA 0.423 NaN 0 0 0 0.000175454 0 20 56 ARHGAP24 83478 broad.mit.edu 37 4 86915953 86915953 + Silent SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:86915953C>A uc003hpk.2 + 9 1595 c.1146C>A c.(1144-1146)CCC>CCA p.P382P ARHGAP24_uc003hpl.2_Silent_p.P287P|ARHGAP24_uc010ikf.2_Silent_p.P297P|ARHGAP24_uc003hpm.2_Silent_p.P289P NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 382 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CTGAGTCACCCCAGAGAAGCA 0.502 NaN 1 0 1.56989e-16 0.000147903 2.58051e-15 53 88 RAP1GDS1 5910 broad.mit.edu 37 4 99363176 99363176 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:99363176C>G uc003htx.3 + 15 1922 c.1732C>G c.(1732-1734)CTA>GTA p.L578V RAP1GDS1_uc003htw.3_Missense_Mutation_p.L579V|RAP1GDS1_uc003htv.3_Missense_Mutation_p.L578V|RAP1GDS1_uc003htz.3_Missense_Mutation_p.L529V|RAP1GDS1_uc003hty.3_Missense_Mutation_p.L530V|RAP1GDS1_uc003hua.3_Missense_Mutation_p.L487V NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 578 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TTTGGCTTTTCTAGATGTCGT 0.408 NaN T NUP98 T-ALL 0 0 0 7.07596e-05 0 16 33 CENPE 1062 broad.mit.edu 37 4 104070087 104070087 + Nonsense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:104070087C>A uc003hxb.1 - 28 3847 c.3757G>T c.(3757-3759)GAA>TAA p.E1253* CENPE_uc003hxc.1_Nonsense_Mutation_p.E1228* NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1253 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTTCTTAGTTCATCAATAGTT 0.323 NaN 1 0 3.57733e-08 0.000279167 5.69383e-07 31 71 TRPC3 7222 broad.mit.edu 37 4 122828620 122828620 + Missense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:122828620G>T uc003ieg.2 - 7 1969 c.1895C>A c.(1894-1896)GCA>GAA p.A632E TRPC3_uc010inr.2_Missense_Mutation_p.A504E|TRPC3_uc003ief.2_Missense_Mutation_p.A559E|TRPC3_uc011cgl.1_Missense_Mutation_p.A296E NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 547 Extracellular (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 GCTCTCATTTGCAGGGAGGAT 0.448 NaN 1 0 1.95512e-22 0.000147903 3.22332e-21 58 138 SLC25A31 83447 broad.mit.edu 37 4 128685476 128685476 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:128685476G>C uc003ifl.2 + 3 585 c.439G>C c.(439-441)GAT>CAT p.D147H NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 147 Solcar 2. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 ATATCCTCTAGATTTTGCCCG 0.378 NaN 0 0 0 9.7654e-05 0 17 56 PRMT10 90826 broad.mit.edu 37 4 148575529 148575529 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:148575529G>C uc003ilc.2 - 9 1661 c.1519C>G c.(1519-1521)CAG>GAG p.Q507E PRMT10_uc003ilb.2_Missense_Mutation_p.Q151E|PRMT10_uc003ild.2_Missense_Mutation_p.Q394E NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 507 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TTACTGGTCTGAAGGTTAGCG 0.383 NaN 0 0 0 0.000339439 0 30 82 RAPGEF2 9693 broad.mit.edu 37 4 160264207 160264207 + Nonsense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:160264207C>T uc003iqg.3 + 15 2822 c.2512C>T c.(2512-2514)CAA>TAA p.Q838* NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 838 Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) AAAACTATTTCAAGATCTCCA 0.423 NaN 0 0 0 0.000308642 0 15 33 NAF1 92345 broad.mit.edu 37 4 164050300 164050300 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:164050300G>C uc003iqj.2 - 8 1428 c.1234C>G c.(1234-1236)CAG>GAG p.Q412E NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 412 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) TTTTGTCTCTGAGAAGGAAAT 0.413 NaN 0 0 0 0.000442599 0 9 35 DDX60 55601 broad.mit.edu 37 4 169197306 169197306 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:169197306C>T uc003irp.2 - 15 2297 c.2005G>A c.(2005-2007)GCT>ACT p.A669T NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 669 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) ACCTGAACAGCTATACTTAAA 0.313 NaN 0 0 0 6.40141e-05 0 10 56 CASP3 836 broad.mit.edu 37 4 185552257 185552257 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr4:185552257C>G uc003iwh.2 - 7 801 c.538G>C c.(538-540)GAT>CAT p.D180H CASP3_uc003iwg.2_Intron|CASP3_uc003iwi.2_Missense_Mutation_p.D180H NM_004346 NP_004337 P42574 CASP3_HUMAN caspase 3 preproprotein 180 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding kidney(1) 1 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) GCCATGTCATCATCAACACCA 0.418 NaN 0 0 0 9.22233e-05 0 21 39 ADAMTS16 170690 broad.mit.edu 37 5 5239847 5239847 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:5239847G>A uc003jdl.2 + 16 2470 c.2332G>A c.(2332-2334)GAA>AAA p.E778K ADAMTS16_uc003jdk.1_Missense_Mutation_p.E778K NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 778 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCGCATCTATGAAATGAACGT 0.483 NaN 0 0 0 0.000147802 0 29 102 DNAH5 1767 broad.mit.edu 37 5 13913930 13913930 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:13913930G>A uc003jfd.2 - 11 1500 c.1458C>T c.(1456-1458)ATC>ATT p.I486I DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 486 Stem (By similarity). 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) GGGTTGTAAAGATGTCTATTA 0.358 NaN Kartagener_syndrome 0 0 0 0.000147903 0 71 77 DNAH5 1767 broad.mit.edu 37 5 13923405 13923406 + Missense_Mutation DNP GG GG TT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:13923405_13923406GG>TT uc003jfd.2 - 4 463_464 c.421_422CC>AA c.(421-423)CCT>AAT p.P141N DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 141 Stem (By similarity). 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) GATGTTGTCAGGGGTGATGGCT 0.455 NaN Kartagener_syndrome 0 0 0 6.4e-05 0 10 333 RXFP3 51289 broad.mit.edu 37 5 33938041 33938041 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:33938041C>T uc003jic.1 + 1 1553 c.1196C>T c.(1195-1197)GCG>GTG p.A399V NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 399 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 TTCCGCAAGGCGCTCAAGAGC 0.642 NaN 0 0 0 0.000586117 0 23 57 GZMA 3001 broad.mit.edu 37 5 54398548 54398548 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:54398548C>T uc003jpm.2 + 1 75 c.38C>T c.(37-39)TCA>TTA p.S13L NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 13 cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TCCTCTCTCTCAGTTGTCGTT 0.408 NaN 0 0 0 0.000125731 0 43 67 DDX4 54514 broad.mit.edu 37 5 55094377 55094377 + Silent SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:55094377C>G uc003jqg.3 + 18 1667 c.1593C>G c.(1591-1593)CTC>CTG p.L531L DDX4_uc010ivz.2_Silent_p.L511L|DDX4_uc003jqh.3_Silent_p.L497L|DDX4_uc003jqj.2_Silent_p.L382L NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 531 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GAGAAAAGCTCGTTGAAATTC 0.333 NaN 0 0 0 0.000491102 0 35 60 AGGF1 55109 broad.mit.edu 37 5 76351402 76351402 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:76351402G>A uc003ket.2 + 11 2057 c.1697G>A c.(1696-1698)CGA>CAA p.R566Q NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 566 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AAGAAAATACGAGTAAAATAT 0.299 NaN 0 0 0 0.000151284 0 12 48 MEF2C 4208 broad.mit.edu 37 5 88100568 88100568 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:88100568C>T uc003kjj.2 - 3 778 c.105G>A c.(103-105)CTG>CTA p.L35L MEF2C_uc003kji.2_Silent_p.L35L|MEF2C_uc003kjk.2_Silent_p.L35L|MEF2C_uc003kjm.2_Silent_p.L35L|MEF2C_uc003kjl.2_Silent_p.L35L NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 35 MADS-box. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) ACAGCACGCTCAGCTCATAAG 0.418 NaN HNSCC(66;0.2) 0 0 0 0.000442599 0 10 42 TTC37 9652 broad.mit.edu 37 5 94876439 94876439 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:94876439G>A uc003klb.2 - 8 768 c.498C>T c.(496-498)TTC>TTT p.F166F TTC37_uc010jbf.1_Silent_p.F118F NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 166 binding ovary(3)|pancreas(1) 4 TTTCAGCCAGGAACTGAGTCA 0.373 NaN 0 0 0 0.000147802 0 28 70 RAD50 10111 broad.mit.edu 37 5 131927031 131927031 + Missense_Mutation SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:131927031A>G uc003kxi.2 + 10 1955 c.1568A>G c.(1567-1569)CAG>CGG p.Q523R RAD50_uc003kxh.2_Missense_Mutation_p.Q384R NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 523 Potential. DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAACTTGACCAGGAGATGGAG 0.368 NaN Homologous_recombination 0 0 0 6.4e-05 0 3 47 ARHGAP26 23092 broad.mit.edu 37 5 142500655 142500655 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:142500655C>G uc011dbj.1 + 18 1676 c.1641C>G c.(1639-1641)ATC>ATG p.I547M ARHGAP26_uc003lmt.2_Missense_Mutation_p.I547M|ARHGAP26_uc003lmw.2_Missense_Mutation_p.I547M NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 547 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGCAGCCATCATGGACATCA 0.433 NaN 0 0 0 0.000228196 0 40 71 WDR46 9277 broad.mit.edu 37 6 33248750 33248750 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:33248750G>C uc003ods.2 - 11 1174 c.1130C>G c.(1129-1131)TCT>TGT p.S377C WDR46_uc011dra.1_Missense_Mutation_p.S323C NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 377 WD 5. 0 GTCTAGGCCAGAGGTGGCCAT 0.552 NaN 0 0 0 6.40141e-05 0 11 34 DNAH8 1769 broad.mit.edu 37 6 38810677 38810677 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:38810677G>C uc003ooe.1 + 33 4792 c.4192G>C c.(4192-4194)GAG>CAG p.E1398Q NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGATGATATTGAGGTACATAA 0.274 NaN 0 0 0 0.000147903 0 105 33 KIF6 221458 broad.mit.edu 37 6 39507812 39507813 + Missense_Mutation DNP CC CC AA rs142216439 TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:39507812_39507813CC>AA uc003oot.2 - 13 1706_1707 c.1611_1612GG>TT c.(1609-1614)TTGGGG>TTTTGG p.537_538LG>FW KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.328_329LG>FW|KIF6_uc011dua.1_Missense_Mutation_p.537_538LG>FW|KIF6_uc010jxb.1_Intron NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 537_538 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GATCTTTTCCCCAAAATGCTGA 0.465 NaN 0 0 0 6.4e-05 0 14 443 TRERF1 55809 broad.mit.edu 37 6 42224512 42224512 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:42224512G>A uc003osd.2 - 12 3097 c.2534C>T c.(2533-2535)TCT>TTT p.S845F TRERF1_uc011duq.1_Missense_Mutation_p.S762F|TRERF1_uc003osb.2_Missense_Mutation_p.S601F|TRERF1_uc003osc.2_Missense_Mutation_p.S601F|TRERF1_uc003ose.2_Missense_Mutation_p.S865F NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 845 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCAAATTCAGAATTGGTCCC 0.443 NaN 0 0 0 0.000147903 0 54 38 TRERF1 55809 broad.mit.edu 37 6 42224558 42224558 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:42224558G>C uc003osd.2 - 12 3051 c.2488C>G c.(2488-2490)CTG>GTG p.L830V TRERF1_uc011duq.1_Missense_Mutation_p.L747V|TRERF1_uc003osb.2_Missense_Mutation_p.L586V|TRERF1_uc003osc.2_Missense_Mutation_p.L586V|TRERF1_uc003ose.2_Missense_Mutation_p.L850V NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 830 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CACAAATTCAGAAGATTCTCC 0.463 NaN 0 0 0 0.000147903 0 55 28 GTPBP2 54676 broad.mit.edu 37 6 43593155 43593155 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:43593155G>A uc003ovs.2 - 5 687 c.650C>T c.(649-651)TCT>TTT p.S217F GTPBP2_uc010jyv.2_Missense_Mutation_p.S129F|GTPBP2_uc003ovt.1_Missense_Mutation_p.S217F NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 217 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GGTTCGGCCAGACTGAATCTC 0.592 NaN 0 0 0 0.00058488 0 36 79 GCLC 2729 broad.mit.edu 37 6 53370630 53370630 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:53370630C>G uc003pbw.1 - 11 1649 c.1261G>C c.(1261-1263)GGA>CGA p.G421R GCLC_uc003pbv.1_Missense_Mutation_p.G145R NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 421 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) ACTCTCCATCCAATGTCTGAG 0.428 NaN 0 0 0 0.000147802 0 24 55 ZNF292 23036 broad.mit.edu 37 6 87970067 87970067 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:87970067C>T uc003plm.3 + 8 6761 c.6720C>T c.(6718-6720)GAC>GAT p.D2240D NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2240 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAGAGGCAGACCACGGGATTG 0.418 NaN 0 0 0 0.000184323 0 31 70 ANKRD6 22881 broad.mit.edu 37 6 90340347 90340347 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:90340347C>T uc003pni.3 + 16 2149 c.1808C>T c.(1807-1809)GCA>GTA p.A603V ANKRD6_uc003pne.3_Missense_Mutation_p.A598V|ANKRD6_uc003pnf.3_Missense_Mutation_p.A568V|ANKRD6_uc011dzy.1_Missense_Mutation_p.A603V|ANKRD6_uc010kcd.2_Missense_Mutation_p.A539V|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.A199V|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.A199V NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 603 protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) ATGAATGAGGCAGCCAGATCT 0.572 NaN 0 0 0 8.12818e-05 0 6 20 VNN2 8875 broad.mit.edu 37 6 133072623 133072623 + Silent SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:133072623C>G uc003qdt.2 - 5 872 c.861G>C c.(859-861)GTG>GTC p.V287V VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.V234V NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 287 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CATAATGATACACTTTGGGAC 0.408 NaN 0 0 0 0.000151284 0 14 44 LTV1 84946 broad.mit.edu 37 6 144179139 144179139 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:144179139G>C uc003qjs.2 + 6 897 c.790G>C c.(790-792)GAG>CAG p.E264Q LTV1_uc003qju.1_Missense_Mutation_p.E49Q|C6orf94_uc010khj.2_5'UTR NM_032860 NP_116249 Q96GA3 LTV1_HUMAN LTV1 homolog 264 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) TGAGAGGTTTGAGAAGGTAAG 0.423 NaN 0 0 0 0.000409698 0 28 15 RBM16 22828 broad.mit.edu 37 6 155123181 155123181 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr6:155123181G>C uc003qqa.2 + 8 915 c.683G>C c.(682-684)GGT>GCT p.G228A RBM16_uc011efj.1_Missense_Mutation_p.G294A|RBM16_uc011efk.1_Missense_Mutation_p.G273A|RBM16_uc003qpz.2_Missense_Mutation_p.G228A|RBM16_uc010kji.2_Missense_Mutation_p.G249A NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 228 Gln-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) CTAGATGCTGGTCTTGTTGTT 0.438 NaN 0 0 0 0.000602214 0 4 79 C7orf28B 221960 broad.mit.edu 37 7 6865862 6865862 + Splice_Site SNP G G C rs141173433 by1000genomes TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:6865862G>C uc003sqx.1 - 1 1 c.-32_splice c.e1-1 C7orf28B_uc011jxd.1_Splice_Site|C7orf28B_uc003sqy.1_Splice_Site NM_198097 NP_932765 P86791 CCZ1_HUMAN hypothetical protein LOC221960 lysosomal membrane 0 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.175) AGCCTCCCACGGCCCGCCCAG 0.582 NaN 0 0 0 3.59834e-05 0 3 14 ADCY1 107 broad.mit.edu 37 7 45650061 45650061 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:45650061C>G uc003tne.3 + 3 891 c.873C>G c.(871-873)TTC>TTG p.F291L ADCY1_uc003tnd.2_Missense_Mutation_p.F66L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 291 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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGAGGATTTTCCACAAGATTT 0.542 NaN 0 0 0 0.000374591 0 37 85 RABGEF1 27342 broad.mit.edu 37 7 66270179 66270179 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:66270179C>T uc011kee.1 + 8 1079 c.915C>T c.(913-915)ATC>ATT p.I305I RABGEF1_uc003tvf.2_Silent_p.I164I|RABGEF1_uc003tvg.2_Silent_p.I99I|RABGEF1_uc010lag.2_Silent_p.I291I|RABGEF1_uc003tvh.2_Silent_p.I291I|RABGEF1_uc003tvi.2_Silent_p.I125I NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 508 VPS9. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 TGGCCTGCATCACCAAGTGCA 0.458 NaN 0 0 0 0.000219431 0 14 61 PCLO 27445 broad.mit.edu 37 7 82580207 82580207 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:82580207C>T uc003uhx.2 - 6 9986 c.9697G>A c.(9697-9699)GAG>AAG p.E3233K PCLO_uc003uhv.2_Missense_Mutation_p.E3233K|PCLO_uc010lec.2_Missense_Mutation_p.E198K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3164 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCCAATTCCTCAGCAAAGCGC 0.443 NaN 0 0 0 0.000228196 0 38 88 CCDC132 55610 broad.mit.edu 37 7 92978099 92978099 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:92978099C>T uc003umo.2 + 24 2412 c.2284C>T c.(2284-2286)CTT>TTT p.L762F CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L732F|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L482F NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 762 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AAAGCCCTTTCTTCAGCAGTT 0.403 NaN 0 0 0 0.000509022 0 42 88 CYP3A7 1551 broad.mit.edu 37 7 99306789 99306789 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:99306789C>G uc003uru.2 - 11 1227 c.1122G>C c.(1120-1122)GAG>GAC p.E374D ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 374 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TGCAGACCCTCTCAAGTCTCA 0.428 NaN 0 0 0 9.7654e-05 0 19 106 STAG3 10734 broad.mit.edu 37 7 99808634 99808634 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:99808634G>A uc003utx.1 + 30 3394 c.3239G>A c.(3238-3240)GGG>GAG p.G1080E STAG3_uc011kjk.1_Missense_Mutation_p.G1022E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.G304E NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1080 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCTTGGCAGGGCCTGCCAAG 0.572 NaN 0 0 0 0.000117367 0 27 62 MUC17 140453 broad.mit.edu 37 7 100677336 100677336 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:100677336C>A uc003uxp.1 + 3 2692 c.2639C>A c.(2638-2640)TCT>TAT p.S880Y MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 880 Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTGGCCACTTCTGCAATCAGC 0.498 NaN 1 0 2.24612e-69 0.000147903 3.72532e-68 179 355 FBXL13 222235 broad.mit.edu 37 7 102665560 102665560 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:102665560C>T uc003vaq.2 - 6 872 c.445G>A c.(445-447)GAG>AAG p.E149K FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.E149K|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E149K|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 149 0 TTTAGAGTCTCATCTACAAGA 0.294 NaN 0 0 0 0.000219431 0 14 42 PSMC2 5701 broad.mit.edu 37 7 102988224 102988224 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:102988224C>T uc003vbs.2 + 1 136 c.66C>T c.(64-66)ATC>ATT p.I22I DNAJC2_uc003vbo.2_5'Flank|DNAJC2_uc010lix.2_5'Flank|DNAJC2_uc003vbp.2_5'Flank|DNAJC2_uc003vbq.1_5'Flank|DNAJC2_uc003vbr.1_5'Flank|PSMC2_uc011kln.1_Silent_p.I22I|PSMC2_uc011klo.1_5'UTR NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 22 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 ACAAGCCCATCCGAGGTCAGT 0.597 NaN 0 0 0 9.7654e-05 0 16 64 PUS7 54517 broad.mit.edu 37 7 105098242 105098242 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:105098242G>A uc003vcx.2 - 16 2200 c.1981C>T c.(1981-1983)CGC>TGC p.R661C PUS7_uc010lji.2_Missense_Mutation_p.R667C|PUS7_uc003vcy.2_Missense_Mutation_p.R661C|PUS7_uc003vcz.1_Missense_Mutation_p.R661C NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 661 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 ACTGCTCAGCGAAGCCAGGTT 0.448 NaN 0 0 0 0.000147903 0 67 323 EXOC4 60412 broad.mit.edu 37 7 133502139 133502139 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:133502139G>C uc003vrk.2 + 11 1611 c.1576G>C c.(1576-1578)GAG>CAG p.E526Q EXOC4_uc011kpo.1_Missense_Mutation_p.E425Q|EXOC4_uc003vrl.2_Missense_Mutation_p.E136Q|EXOC4_uc011kpp.1_Missense_Mutation_p.E58Q NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 526 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) TCCTCTTCGAGAGTTTCTCAC 0.413 NaN 0 0 0 0.000109025 0 31 56 ZNF777 27153 broad.mit.edu 37 7 149129613 149129613 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr7:149129613G>A uc003wfv.2 - 6 1913 c.1750C>T c.(1750-1752)CGG>TGG p.R584W NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 584 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGCTTGTGCCGGAAGCTGATC 0.642 NaN 0 0 0 0.000602214 0 4 40 PPP3CC 5533 broad.mit.edu 37 8 22398214 22398214 + Silent SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:22398214C>A uc003xbs.2 + 14 1765 c.1438C>A c.(1438-1440)CGA>AGA p.R480R PPP3CC_uc011kzi.1_Silent_p.R489R|PPP3CC_uc003xbt.2_Silent_p.R470R|PPP3CC_uc011kzj.1_Silent_p.R195R NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 480 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) AATGCCACCCCGAAAGGATAG 0.517 NaN 1 0 0.000602214 0.000602214 0.00908751 5 94 NRG1 3084 broad.mit.edu 37 8 31498021 31498021 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:31498021G>A uc003xip.2 + 1 754 c.521G>A c.(520-522)GGC>GAC p.G174D NM_013962 NP_039256 Q02297 NRG1_HUMAN neuregulin 1 isoform GGF2 Error:Variant_position_missing_in_Q02297_after_alignment activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AAAGCCGGGGGCTTGAAGAAG 0.706 NaN 0 0 0 0.000602214 0 4 16 IDO2 169355 broad.mit.edu 37 8 39806766 39806766 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:39806766C>G uc010lwy.1 + 2 363 c.121C>G c.(121-123)CTT>GTT p.L41V IDO2_uc003xno.1_RNA NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 28 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 GTATGGCTTTCTTCTTCCAGA 0.383 NaN 0 0 0 0.000442599 0 10 25 ATP6V1H 51606 broad.mit.edu 37 8 54745646 54745647 + Splice_Site DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:54745646_54745647CC>AA uc003xrl.2 - 3 266 c.114_splice c.e3-1 p.Q38_splice ATP6V1H_uc003xrk.2_Splice_Site|ATP6V1H_uc003xrm.2_Splice_Site_p.Q38_splice|ATP6V1H_uc003xrn.2_Splice_Site_p.Q38_splice|ATP6V1H_uc011ldv.1_Splice_Site|ATP6V1H_uc010lyd.2_Intron|ATP6V1H_uc003xro.1_Splice_Site_p.Q35_splice NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TCATCTGTCCCCTAGAAAGTAA 0.406 NaN 0 0 0 6.4e-05 0 9 250 IMPA1 3612 broad.mit.edu 37 8 82593018 82593018 + Missense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:82593018C>A uc003ych.2 - 3 191 c.64G>T c.(64-66)GTA>TTA p.V22L IMPA1_uc011lfq.1_Missense_Mutation_p.V81L|IMPA1_uc011lfr.1_Missense_Mutation_p.V22L NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 22 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) TCACAAACTACCTAAAAAGAG 0.274 NaN 1 0 5.01169e-05 0.000566183 0.000771019 17 157 TRPS1 7227 broad.mit.edu 37 8 116599486 116599487 + Missense_Mutation DNP CC CC AA rs146506752 by1000genomes TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:116599486_116599487CC>AA uc003ynz.2 - 4 2861_2862 c.2402_2403GG>TT c.(2401-2403)CGG>CTT p.R801L TRPS1_uc011lhy.1_Missense_Mutation_p.R805L|TRPS1_uc003yny.2_Missense_Mutation_p.R814L|TRPS1_uc010mcy.2_Missense_Mutation_p.R801L NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 801 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACGGACTCCCCCGCAGGATGTC 0.559 NaN Langer-Giedion_syndrome 0 0 0 6.4e-05 0 13 343 COL14A1 7373 broad.mit.edu 37 8 121290778 121290778 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:121290778G>C uc003yox.2 + 28 3707 c.3442G>C c.(3442-3444)GAT>CAT p.D1148H COL14A1_uc003yoz.2_Missense_Mutation_p.D113H NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1148 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGATCACAAGATGATGTGAA 0.358 NaN 0 0 0 0.000147903 0 45 40 HAS2 3037 broad.mit.edu 37 8 122626946 122626946 + Nonsense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:122626946C>T uc003yph.2 - 4 1600 c.1062G>A c.(1060-1062)TGG>TGA p.W354* NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 354 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AGGACTTGCTCCAACGGGTCT 0.448 NaN 0 0 0 0.000117367 0 28 118 FER1L6 654463 broad.mit.edu 37 8 125058101 125058102 + Missense_Mutation DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:125058101_125058102CC>AA uc003yqw.2 + 21 2889_2890 c.2683_2684CC>AA c.(2683-2685)CCG>AAG p.P895K NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 895 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGCAGAGTCCCCGCCCTTAGTG 0.55 NaN 0 0 0 6.4e-05 0 11 342 DENND3 22898 broad.mit.edu 37 8 142200469 142200469 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:142200469G>A uc003yvy.2 + 20 3370 c.3092G>A c.(3091-3093)CGA>CAA p.R1031Q DENND3_uc010mep.2_Missense_Mutation_p.R992Q|DENND3_uc003ywa.1_Missense_Mutation_p.R81Q|DENND3_uc003ywb.2_Missense_Mutation_p.R81Q NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1031 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CAGCTGCCGCGAGGTGGCCTG 0.642 NaN 0 0 0 0.000308642 0 14 39 ZNF623 9831 broad.mit.edu 37 8 144732979 144732979 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:144732979C>G uc003yzd.2 + 1 1026 c.937C>G c.(937-939)CAC>GAC p.H313D ZNF623_uc011lkp.1_Missense_Mutation_p.H273D|ZNF623_uc003yzc.2_Missense_Mutation_p.H273D NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 313 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAGAGAATTCACACCGGAGA 0.468 NaN 0 0 0 0.000147903 0 58 72 PLEC 5339 broad.mit.edu 37 8 144993101 144993101 + Missense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:144993101C>G uc003zaf.1 - 32 11469 c.11299G>C c.(11299-11301)GAG>CAG p.E3767Q PLEC_uc003zab.1_Missense_Mutation_p.E3630Q|PLEC_uc003zac.1_Missense_Mutation_p.E3634Q|PLEC_uc003zad.2_Missense_Mutation_p.E3630Q|PLEC_uc003zae.1_Missense_Mutation_p.E3598Q|PLEC_uc003zag.1_Missense_Mutation_p.E3608Q|PLEC_uc003zah.2_Missense_Mutation_p.E3616Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3657Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3767 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGGATGATCTCTGTCTTCTCA 0.612 NaN 0 0 0 0.000586117 0 21 115 PLEC 5339 broad.mit.edu 37 8 144994322 144994322 + Nonsense_Mutation SNP C C A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr8:144994322C>A uc003zaf.1 - 32 10248 c.10078G>T c.(10078-10080)GAG>TAG p.E3360* PLEC_uc003zab.1_Nonsense_Mutation_p.E3223*|PLEC_uc003zac.1_Nonsense_Mutation_p.E3227*|PLEC_uc003zad.2_Nonsense_Mutation_p.E3223*|PLEC_uc003zae.1_Nonsense_Mutation_p.E3191*|PLEC_uc003zag.1_Nonsense_Mutation_p.E3201*|PLEC_uc003zah.2_Nonsense_Mutation_p.E3209*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E3250* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3360 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GAGTAGAGCTCCTCCTGCCGG 0.677 NaN 1 0 3.86212e-05 3.86212e-05 0.000597493 10 56 PTPRD 5789 broad.mit.edu 37 9 8500790 8500790 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:8500790C>T uc003zkk.2 - 23 2803 c.2092G>A c.(2092-2094)GAG>AAG p.E698K PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.E698K|PTPRD_uc003zkm.2_Missense_Mutation_p.E685K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 698 Fibronectin type-III 4.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GACAAGCTCTCAGGGCCAGGG 0.483 NaN TSP Lung(15;0.13) 0 0 0 0.000437636 0 40 43 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:20414343A>G uc003zoe.2 - 5 760 c.501T>C c.(499-501)AGT>AGC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.139 NaN T MLL ALL 0 0 0 0.00024832 0 4 40 AQP7 364 broad.mit.edu 37 9 33386406 33386406 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:33386406G>C uc003zst.2 - 5 574 c.402C>G c.(400-402)TTC>TTG p.F134L SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.F77L|AQP7_uc010mjs.2_Missense_Mutation_p.F42L|AQP7_uc010mjt.2_Missense_Mutation_p.F42L|AQP7_uc011lnx.1_Missense_Mutation_p.F134L|AQP7_uc011lny.1_Missense_Mutation_p.F133L|AQP7_uc003zss.3_Missense_Mutation_p.F42L|AQP7_uc011lnz.1_Missense_Mutation_p.F42L|AQP7_uc011loa.1_Missense_Mutation_p.F42L NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 134 Helical; (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) ACTCACTGTAGAAGAGACTGT 0.577 NaN 0 0 0 0.00024832 0 4 23 AQP7 364 broad.mit.edu 37 9 33387057 33387057 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:33387057G>C uc003zst.2 - 4 350 c.178C>G c.(178-180)CTA>GTA p.L60V SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.L3V|AQP7_uc010mjs.2_Intron|AQP7_uc010mjt.2_Intron|AQP7_uc011lnx.1_Missense_Mutation_p.L60V|AQP7_uc011lny.1_Missense_Mutation_p.L59V|AQP7_uc003zss.3_Intron|AQP7_uc011lnz.1_Intron|AQP7_uc011loa.1_Intron NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 60 Extracellular (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TTTTTATTTAGAACCATATGG 0.567 NaN 0 0 0 3.59834e-05 0 5 50 ANKRD20A4 728747 broad.mit.edu 37 9 69420374 69420375 + Missense_Mutation DNP GG GG TT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:69420374_69420375GG>TT uc004afn.2 + 13 1376_1377 c.1264_1265GG>TT c.(1264-1266)GGG>TTG p.G422L NM_001098805 NP_001092275 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 422 0 AAGAAAGATTGGGAAAACGTAT 0.342 NaN 0 0 0 6.4e-05 0 9 354 APBA1 320 broad.mit.edu 37 9 72047530 72047530 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:72047530G>A uc004ahh.2 - 12 2640 c.2364C>T c.(2362-2364)ATC>ATT p.I788I NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 788 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 TGATTTCAATGATCCGGTGCC 0.582 NaN 0 0 0 0.000147903 0 51 6 RASEF 158158 broad.mit.edu 37 9 85677430 85677430 + Nonsense_Mutation SNP G G T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:85677430G>T uc004amo.1 - 1 614 c.353C>A c.(352-354)TCG>TAG p.S118* RASEF_uc004amp.1_Nonsense_Mutation_p.S118* NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 118 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding p.S118L(1) upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 CGGGCCGCACGAGGTGGCCAG 0.721 NaN 1 0 2.23348e-06 0.000422831 3.49449e-05 13 19 COL15A1 1306 broad.mit.edu 37 9 101800955 101800955 + Missense_Mutation SNP G G C rs139652646 byFrequency TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:101800955G>C uc004azb.1 + 22 2621 c.2415G>C c.(2413-2415)TTG>TTC p.L805F NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 805 Nonhelical region 4 (NC4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TTCAGTCCTTGATCAATATCA 0.463 NaN 0 0 0 0.000437636 0 37 228 ERP44 23071 broad.mit.edu 37 9 102861077 102861077 + Missense_Mutation SNP G G A rs140289515 TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:102861077G>A uc004bam.2 - 1 254 c.46C>T c.(46-48)CTT>TTT p.L16F ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.L16F|INVS_uc010mta.1_5'Flank|INVS_uc011lve.1_5'Flank|INVS_uc004bao.1_5'Flank|INVS_uc004bap.1_5'Flank|INVS_uc004baq.1_5'Flank|INVS_uc004bar.1_5'Flank|INVS_uc010mtb.1_5'Flank NM_015051 NP_055866 Q9BS26 ERP44_HUMAN thioredoxin domain containing 4 (endoplasmic 16 cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity 0 AGGAGCAGAAGGGAGCATCTG 0.572 NaN 0 0 0 3.59834e-05 0 6 36 LAMC3 10319 broad.mit.edu 37 9 133945103 133945103 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:133945103G>A uc004caa.1 + 17 3033 c.2935G>A c.(2935-2937)GAG>AAG p.E979K NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 979 Laminin EGF-like 11. E -> Y (in Ref. 1; AAD36991). cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCAGTGCCACGAGAACGGCAC 0.662 NaN 0 0 0 0.000151284 0 14 13 COL5A1 1289 broad.mit.edu 37 9 137591828 137591828 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr9:137591828C>T uc004cfe.2 + 3 733 c.351C>T c.(349-351)GTC>GTT p.V117V NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 117 TSP N-terminal.|Laminin G-like. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTTCCTGGTCTCCATCTACA 0.587 NaN 0 0 0 0.000151284 0 13 83 ASMTL 8623 broad.mit.edu 37 X 1540663 1540663 + Missense_Mutation SNP A A G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:1540663A>G uc004cpx.1 - 9 1244 c.1133T>C c.(1132-1134)ATG>ACG p.M378T ASMTL_uc011mhe.1_Missense_Mutation_p.M302T|ASMTL_uc004cpy.1_Missense_Mutation_p.M362T|ASMTL_uc011mhf.1_Missense_Mutation_p.M320T NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 378 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 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) ATTATTGTGCATGATGAAGCC 0.522 NaN 0 0 0 3.86212e-05 0 11 522 TLR8 51311 broad.mit.edu 37 X 12937404 12937404 + Nonsense_Mutation SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:12937404C>G uc004cve.2 + 2 313 c.245C>G c.(244-246)TCA>TGA p.S82* TLR8_uc004cvd.2_Nonsense_Mutation_p.S100* NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 82 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 ACGAATGAATCATTTCAAGGG 0.413 NaN 0 0 0 0.000602214 0 5 187 ZRSR2 8233 broad.mit.edu 37 X 15838418 15838419 + Missense_Mutation DNP CG CG AT TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:15838418_15838419CG>AT uc004cxg.3 + 10 961_962 c.916_917CG>AT c.(916-918)CGG>ATG p.R306M NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 306 C3H1-type 2. spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) CCCCGTGACCCGGTGGAAAATG 0.441 NaN 0 0 0 6.4e-05 0 7 213 NUDT10 170685 broad.mit.edu 37 X 51075911 51075911 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:51075911G>A uc004dph.2 + 2 314 c.94G>A c.(94-96)GAG>AAG p.E32K NUDT10_uc004dpi.3_Missense_Mutation_p.E32K NM_153183 NP_694853 Q8NFP7 NUD10_HUMAN nudix-type motif 10 32 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 Ovarian(276;0.236) GCGCGAGGACGAGGTCCTGTT 0.687 NaN 0 0 0 0.000157383 0 7 25 SLC7A3 84889 broad.mit.edu 37 X 70148785 70148785 + Silent SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:70148785C>T uc004dyn.2 - 3 596 c.438G>A c.(436-438)AAG>AAA p.K146K SLC7A3_uc004dyo.2_Silent_p.K146K NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 146 Extracellular (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCTGCAGAGTCTTAGAGATGT 0.542 NaN 0 0 0 0.00010058 0 12 61 AGTR2 186 broad.mit.edu 37 X 115304028 115304029 + Missense_Mutation DNP CC CC AA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:115304028_115304029CC>AA uc004eqh.3 + 3 702_703 c.495_496CC>AA c.(493-498)CCCCTT>CCAATT p.L166I NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 166 Helical; Name=4; (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 ATATAGTTCCCCTTGTTTGGTG 0.396 NaN 0 0 0 6.4e-05 0 14 397 THOC2 57187 broad.mit.edu 37 X 122756965 122756965 + Missense_Mutation SNP C C T TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:122756965C>T uc004etu.2 - 29 3705 c.3673G>A c.(3673-3675)GAG>AAG p.E1225K THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.E46K NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1225 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 CCAGTCTCCTCAGTACTGCTT 0.403 NaN 0 0 0 0.000375601 0 24 93 ELF4 2000 broad.mit.edu 37 X 129208117 129208117 + Splice_Site SNP C C G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:129208117C>G uc004evd.3 - 4 633 c.248_splice c.e4-1 p.D83_splice ELF4_uc004eve.3_Splice_Site_p.D83_splice NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCATTGTCATCTGGTCCGGGT 0.532 NaN T ERG AML 0 0 0 0.000147903 0 53 165 PHF6 84295 broad.mit.edu 37 X 133549106 133549106 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:133549106G>C uc004exj.2 + 8 992 c.790G>C c.(790-792)GAT>CAT p.D264H PHF6_uc004exk.2_Missense_Mutation_p.D264H|PHF6_uc011mvk.1_Missense_Mutation_p.D230H|PHF6_uc004exh.2_Missense_Mutation_p.D265H|PHF6_uc010nrr.2_Missense_Mutation_p.D264H|PHF6_uc004exi.2_Missense_Mutation_p.D265H NM_001015877 NP_001015877 Q8IWS0 PHF6_HUMAN PHD finger protein 6 isoform 1 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TGGAGACTTTGATATTAAAAC 0.333 NaN 0 0 0 0.000147903 0 53 80 FGF13 2258 broad.mit.edu 37 X 137939732 137939732 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:137939732G>A uc004faq.2 - 2 335 c.159C>T c.(157-159)CAC>CAT p.H53H FGF13_uc011mwi.1_Silent_p.H24H|FGF13_uc004far.2_Silent_p.H24H|FGF13_uc011mwj.1_Silent_p.H53H|FGF13_uc011mwk.1_Intron NM_001139502 NP_001132974 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 3 Error:Variant_position_missing_in_Q92913_after_alignment cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGAAGATTTCGTGACACTTAG 0.478 NaN 0 0 0 0.000147903 0 65 149 PRRG3 79057 broad.mit.edu 37 X 150869180 150869180 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:150869180G>A uc004few.1 + 4 761 c.371G>A c.(370-372)CGC>CAC p.R124H NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 124 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTAGCCAGTCGCGCCGGGCAC 0.632 NaN 0 0 0 0.000566183 0 18 81 RENBP 5973 broad.mit.edu 37 X 153206997 153206997 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chrX:153206997G>A uc004fjo.1 - 8 1049 c.879C>T c.(877-879)TCC>TCT p.S293S RENBP_uc011mzh.1_3'UTR NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 293 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GGTCCCATCCGGAGTGGAAGG 0.587 NaN 0 0 0 0.000184323 0 29 107 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:22838561_22838563delAAG uc001bft.2 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)AAGdel p.K803del ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 NaN NaN NaN NaN NaN NaN 7 115 --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:181680102_181680103delAG uc001gow.2 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)AAAGAGfs p.K356fs CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 356_357 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AATTTGCCAAAGAGAGAGAGAG 0.51 NaN NaN NaN NaN NaN NaN 9 85 --- --- PIK3C2B 5287 broad.mit.edu 37 1 204400888 204400889 + Frame_Shift_Ins INS - - A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr1:204400888_204400889insA uc001haw.2 - 29 4667_4668 c.4188_4189insT c.(4186-4191)ACTCACfs p.T1396fs PIK3C2B_uc010pqv.1_Frame_Shift_Ins_p.T1368fs NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1396_1397 PX. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GTGGCCTCGTGAGTGTTCTCTC 0.535 NaN OREG0014134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 43 171 --- --- FAM171A1 221061 broad.mit.edu 37 10 15254987 15254989 + In_Frame_Del DEL TCA TCA - TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr10:15254987_15254989delTCA uc001iob.2 - 8 2605_2607 c.2598_2600delTGA c.(2596-2601)GATGAC>GAC p.866_867DD>D NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 866_867 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 TTCTCCTTGGTCATCATCATCAT 0.571 NaN NaN NaN NaN NaN NaN 7 292 --- --- LRP1 4035 broad.mit.edu 37 12 57606238 57606239 + Frame_Shift_Ins INS - - G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr12:57606238_57606239insG uc001snd.2 + 89 14001_14002 c.13535_13536insG c.(13534-13536)ATGfs p.M4512fs NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4512 Cytoplasmic (Potential).|Interaction with MAFB (By similarity). 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 ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACACTCTACATGGGGGGCCATG 0.644 NaN NaN NaN NaN NaN NaN 19 1896 --- --- SLC25A30 253512 broad.mit.edu 37 13 45971416 45971417 + In_Frame_Ins INS - - TAA TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr13:45971416_45971417insTAA uc001vag.2 - 9 947_948 c.810_811insTTA c.(808-813)insTTA p.270_271insL SLC25A30_uc010tfs.1_In_Frame_Ins_p.195_196insL|SLC25A30_uc001vah.2_In_Frame_Ins_p.195_196insL|SLC25A30_uc010tft.1_In_Frame_Ins_p.219_220insL|SLC25A30_uc001vaf.2_3'UTR NM_001010875 NP_001010875 Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 270_271 Solcar 3.|Helical; Name=6; (Potential). mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) GGACCAAGTCTCAACCAATTTG 0.307 NaN NaN NaN NaN NaN NaN 40 78 --- --- KCTD19 146212 broad.mit.edu 37 16 67325657 67325658 + Frame_Shift_Ins INS - - G TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr16:67325657_67325658insG uc002esu.2 - 13 2352_2353 c.2301_2302insC c.(2299-2304)CCCGTGfs p.P767fs KCTD19_uc002est.2_Frame_Shift_Ins_p.P539fs|KCTD19_uc010vjj.1_Frame_Shift_Ins_p.P510fs NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 767_768 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTGCCCACCACGGGGGGGTGAG 0.574 NaN NaN NaN NaN NaN NaN 9 105 --- --- C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx f350676a-e308-42fe-8297-9d18ba7027b1 bba7b385-f707-4654-ba9e-cd3bbebf4859 g.chr5:41181559_41181560insC uc003jmk.2 - 7 1038_1039 c.828_829insG c.(826-831)GGGAGCfs p.G276fs C6_uc003jml.1_Frame_Shift_Ins_p.G276fs NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 276_277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 NaN NaN NaN NaN NaN NaN 30 62 --- ---