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 SCNN1D 6339 broad.mit.edu 37 1 1221484 1221484 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:1221484G>A uc001adu.1 + 6 869 c.245G>A c.(244-246)CGC>CAC p.R82H SCNN1D_uc001adt.1_Missense_Mutation_p.R246H|SCNN1D_uc001adw.2_Missense_Mutation_p.R148H|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.R82H NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CGCGGGAACCGCCTCAAGACG 0.692 NaN 0 0 0 0.009096 0 4 25 CHD5 26038 broad.mit.edu 37 1 6214906 6214906 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:6214906C>T uc001amb.1 - 5 659 c.559G>A c.(559-561)GTC>ATC p.V187I NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 187 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCACCCAGGACGGTCATCATT 0.498 NaN 0 0 0 0.01441 0 61 44 PADI2 11240 broad.mit.edu 37 1 17395694 17395694 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:17395694C>T uc001baf.2 - 16 1925 c.1843G>A c.(1843-1845)GAG>AAG p.E615K PADI2_uc010ocm.1_Missense_Mutation_p.E499K NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 615 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) ACGTGCATCTCCAGGCAGCAT 0.592 NaN 0 0 0 0.010729 0 7 98 PADI4 23569 broad.mit.edu 37 1 17682587 17682587 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:17682587G>A uc001baj.2 + 12 1448 c.1420G>A c.(1420-1422)GAG>AAG p.E474K NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 474 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCACGTGGACGAGTTCCTGAG 0.632 NaN 0 0 0 0.004482 0 8 48 UBR4 23352 broad.mit.edu 37 1 19423752 19423752 + Missense_Mutation SNP T T G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:19423752T>G uc001bbi.2 - 91 13329 c.13325A>C c.(13324-13326)TAT>TCT p.Y4442S UBR4_uc010ocv.1_Missense_Mutation_p.Y5S|UBR4_uc009vph.2_Missense_Mutation_p.Y76S|UBR4_uc010ocw.1_Missense_Mutation_p.Y106S|UBR4_uc001bbg.2_Missense_Mutation_p.Y153S|UBR4_uc001bbh.2_Missense_Mutation_p.Y151S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 4442 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCGCATACGATAAACAATCCT 0.498 NaN 0 0 0 0.001168 0 4 51 USP48 84196 broad.mit.edu 37 1 22074693 22074693 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:22074693C>G uc001bfb.2 - 7 1084 c.846G>C c.(844-846)AAG>AAC p.K282N USP48_uc010odq.1_Missense_Mutation_p.K282N|USP48_uc009vqc.2_Missense_Mutation_p.K282N|USP48_uc001bfc.2_Missense_Mutation_p.K282N|USP48_uc001bfe.1_Missense_Mutation_p.K282N|USP48_uc001bff.2_Missense_Mutation_p.K282N NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 282 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GAAGTCGAATCTTTCTTGTTG 0.348 NaN 0 0 0 0.009096 0 4 25 ZNF436 80818 broad.mit.edu 37 1 23688971 23688971 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:23688971C>G uc001bgt.2 - 3 1285 c.904G>C c.(904-906)GGG>CGG p.G302R ZNF436_uc001bgu.2_Missense_Mutation_p.G302R NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GGCCTCTCCCCTGTGTGGACT 0.522 NaN 0 0 0 0.021523 0 22 108 ASAP3 55616 broad.mit.edu 37 1 23763473 23763473 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:23763473G>C uc001bha.2 - 15 1531 c.1407C>G c.(1405-1407)CGC>CGG p.R469R ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.R338R|ASAP3_uc010oea.1_Silent_p.R460R|ASAP3_uc001bhb.2_5'UTR NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 469 Arf-GAP. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CGCCCAGTTCGCGGTGGACGC 0.677 NaN 0 0 0 0.00308 0 6 29 ARID1A 8289 broad.mit.edu 37 1 27107008 27107008 + Nonsense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:27107008C>T uc001bmv.1 + 20 6992 c.6619C>T c.(6619-6621)CAG>TAG p.Q2207* ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1990*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q1053*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q535*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q449* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2207 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGCCGCCACACAGTTCCAGCA 0.642 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 59 65 TTC39A 22996 broad.mit.edu 37 1 51761767 51761767 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:51761767C>T uc001csl.2 - 13 1342 c.1237G>A c.(1237-1239)GAA>AAA p.E413K TTC39A_uc001csk.2_Missense_Mutation_p.E378K|TTC39A_uc010ond.1_Missense_Mutation_p.E350K|TTC39A_uc010one.1_Missense_Mutation_p.E377K|TTC39A_uc010onf.1_Missense_Mutation_p.E381K|TTC39A_uc001csn.2_Missense_Mutation_p.E412K|TTC39A_uc001csj.2_Missense_Mutation_p.E14K NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 413 binding skin(1) 1 AATTCCACTTCGTCGTCCCCG 0.592 NaN 0 0 0 0.016723 0 10 4 CC2D1B 200014 broad.mit.edu 37 1 52821911 52821911 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:52821911C>A uc001ctq.1 - 18 2157 c.2019G>T c.(2017-2019)CAG>CAT p.Q673H CC2D1B_uc001ctr.2_Missense_Mutation_p.Q213H|CC2D1B_uc001cts.2_Missense_Mutation_p.Q358H NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 673 ovary(2) 2 GGTCGAGGCCCTGAGCCTGGG 0.572 NaN 1 0 8.10497e-08 0.010504 9.039e-08 18 71 LRRC7 57554 broad.mit.edu 37 1 70509735 70509735 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:70509735G>C uc001dep.2 + 20 3984 c.3954G>C c.(3952-3954)CAG>CAC p.Q1318H LRRC7_uc009wbg.2_Missense_Mutation_p.Q602H|LRRC7_uc001deq.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1318 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TAAACTTGCAGACTAAGTCTA 0.398 NaN 0 0 0 0.010729 0 12 45 DDX20 11218 broad.mit.edu 37 1 112309338 112309338 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:112309338G>A uc001ebs.2 + 11 2649 c.2292G>A c.(2290-2292)CTG>CTA p.L764L DDX20_uc010owf.1_Silent_p.L526L|DDX20_uc001ebt.2_Silent_p.L372L NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 764 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATACGTCTGAGTTTTTCTG 0.453 NaN 0 0 0 0.004482 0 9 86 SYT6 148281 broad.mit.edu 37 1 114680320 114680320 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:114680320G>A uc001eev.2 - 3 863 c.613C>T c.(613-615)CTG>TTG p.L205L NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 290 Cytoplasmic (Potential).|C2 1. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGGGTTCAGGGTCTTGCGG 0.557 NaN 0 0 0 0.004007 0 14 71 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:145302714A>G uc001end.3 + 8 1187 c.1152A>G c.(1150-1152)TTA>TTG p.L384L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527 NaN 0 0 0 0.014758 0 5 97 HIST2H2BE 8349 broad.mit.edu 37 1 149857978 149857978 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:149857978G>C uc001etc.2 - 1 255 c.213C>G c.(211-213)TTC>TTG p.F71L HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGATGCGCTCGAAGATGTCGT 0.622 NaN 0 0 0 0.01441 0 152 138 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:153907309C>T uc001fdd.1 - 18 3101 c.2700G>A c.(2698-2700)CAG>CAA p.Q900Q uc001fdc.1_RNA NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.468 NaN 0 0 0 0.004482 0 7 120 NES 10763 broad.mit.edu 37 1 156640211 156640211 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:156640211C>G uc001fpq.2 - 4 3902 c.3769G>C c.(3769-3771)GGG>CGG p.G1257R NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1257 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTACTTTCCCCAGGGCTTCA 0.642 NaN 0 0 0 0.013726 0 27 240 FCRL5 83416 broad.mit.edu 37 1 157489551 157489551 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:157489551G>C uc001fqu.2 - 13 2800 c.2642C>G c.(2641-2643)CCT>CGT p.P881R FCRL5_uc009wsm.2_Missense_Mutation_p.P881R NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 881 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GTCAGAGGCAGGCTTTCTCCC 0.502 NaN 0 0 0 0.013537 0 8 60 DCAF6 55827 broad.mit.edu 37 1 167973115 167973115 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:167973115G>C uc001gew.2 + 9 1247 c.1005G>C c.(1003-1005)CAG>CAC p.Q335H DCAF6_uc001gev.2_Missense_Mutation_p.Q335H|DCAF6_uc001gex.2_Missense_Mutation_p.Q335H|DCAF6_uc010plk.1_Missense_Mutation_p.Q304H|DCAF6_uc001gey.2_Missense_Mutation_p.Q188H NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 335 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TAGGAGAGCAGAGTCCCAATG 0.353 NaN 0 0 0 0.009096 0 3 111 TIPRL 261726 broad.mit.edu 37 1 168169157 168169157 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:168169157T>C uc001gfg.2 + 7 837 c.692T>C c.(691-693)CTC>CCC p.L231P TIPRL_uc001gfh.2_Silent_p.P232P NM_152902 NP_690866 O75663 TIPRL_HUMAN TIP41, TOR signalling pathway regulator-like 231 Interaction with PPP2CA. DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding ovary(1) 1 all_hematologic(923;0.215) CCACCTTCCCTCTTCACGGAA 0.343 NaN 0 0 0 0.01441 0 123 34 CACNA1E 777 broad.mit.edu 37 1 181680116 181680116 + Missense_Mutation SNP T T A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:181680116T>A uc001gow.2 + 8 1247 c.1082T>A c.(1081-1083)GTG>GAG p.V361E CACNA1E_uc009wxs.2_Missense_Mutation_p.V268E NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 361 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 AGAGAGAGAGTGGAGAACCGA 0.522 NaN 0 0 0 0.00308 0 6 195 FAM129A 116496 broad.mit.edu 37 1 184777366 184777366 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:184777366G>C uc001gra.2 - 10 1371 c.1177C>G c.(1177-1179)CTA>GTA p.L393V FAM129A_uc001grb.1_Missense_Mutation_p.L156V|FAM129A_uc009wyh.1_Missense_Mutation_p.L221V|FAM129A_uc009wyi.1_Missense_Mutation_p.L191V NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 393 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 AGCCGGTCTAGATGCTGCATT 0.433 NaN 0 0 0 0.01441 0 42 18 CTSE 1510 broad.mit.edu 37 1 206318358 206318358 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:206318358G>A uc001hdu.2 + 2 234 c.116G>A c.(115-117)CGG>CAG p.R39Q CTSE_uc001hdv.2_Missense_Mutation_p.R39Q|CTSE_uc010prs.1_Intron NM_001910 NP_001901 P14091 CATE_HUMAN cathepsin E isoform a preproprotein 39 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.0754) CTGCGGGCACGGAGCCAGCTC 0.557 NaN 0 0 0 0.020292 0 13 40 ACTN2 88 broad.mit.edu 37 1 236907968 236907968 + Missense_Mutation SNP C C T rs143749154 byFrequency TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:236907968C>T uc001hyf.2 + 12 1502 c.1298C>T c.(1297-1299)TCG>TTG p.S433L ACTN2_uc001hyg.2_Missense_Mutation_p.S225L|ACTN2_uc009xgi.1_Missense_Mutation_p.S433L|ACTN2_uc010pxu.1_Missense_Mutation_p.S122L|ACTN2_uc001hyh.2_Missense_Mutation_p.S121L NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 433 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGTCGGCGTCGCTGACAGAG 0.602 NaN 0 0 0 0.00874 0 38 22 DHTKD1 55526 broad.mit.edu 37 10 12148334 12148334 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr10:12148334G>T uc001ild.3 + 11 2085 c.1986G>T c.(1984-1986)GAG>GAT p.E662D NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 662 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CCCTGTGGGAGGCACAGTTTG 0.527 NaN 1 0 0.000157383 0.00308 0.000170451 6 157 CUBN 8029 broad.mit.edu 37 10 17083214 17083214 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr10:17083214C>T uc001ioo.2 - 27 3887 c.3835G>A c.(3835-3837)GAG>AAG p.E1279K NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1279 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCACATTCTCACATGCTGGA 0.343 NaN 0 0 0 0.020292 0 10 74 CUBN 8029 broad.mit.edu 37 10 17107557 17107557 + Missense_Mutation SNP A A T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr10:17107557A>T uc001ioo.2 - 22 3141 c.3089T>A c.(3088-3090)CTC>CAC p.L1030H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1030 CUB 5. Calcium 1; via carbonyl oxygen. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCATAAGCGAGGTCGGAGTC 0.428 NaN 0 0 0 0.015359 0 33 196 STOX1 219736 broad.mit.edu 37 10 70645483 70645483 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr10:70645483G>A uc001jos.2 + 3 2018 c.1931G>A c.(1930-1932)CGA>CAA p.R644Q STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.R534Q NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 644 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 CTGCCATCACGAGGTGCCTCC 0.453 NaN 0 0 0 0.00632 0 21 73 GBF1 8729 broad.mit.edu 37 10 104129518 104129518 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr10:104129518G>C uc001kux.1 + 25 3438 c.3198G>C c.(3196-3198)GAG>GAC p.E1066D GBF1_uc001kuy.1_Missense_Mutation_p.E1066D|GBF1_uc001kuz.1_Missense_Mutation_p.E1067D NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1066 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AGCGGGAAGAGACACCATCAA 0.483 NaN 0 0 0 0.012319 0 16 38 GBF1 8729 broad.mit.edu 37 10 104142018 104142018 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr10:104142018C>T uc001kux.1 + 40 5745 c.5505C>T c.(5503-5505)ATC>ATT p.I1835I GBF1_uc001kuy.1_Silent_p.I1831I|GBF1_uc001kuz.1_Silent_p.I1832I NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1835 Pro-rich. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTGCGCTCATCGAGGCCACCT 0.637 NaN 0 0 0 0.01441 0 43 160 OSBPL5 114879 broad.mit.edu 37 11 3125474 3125474 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:3125474G>C uc001lxk.2 - 10 1351 c.1193C>G c.(1192-1194)TCC>TGC p.S398C OSBPL5_uc010qxq.1_Missense_Mutation_p.S309C|OSBPL5_uc009ydw.2_Missense_Mutation_p.S330C|OSBPL5_uc001lxl.2_Missense_Mutation_p.S330C|OSBPL5_uc009ydx.2_Missense_Mutation_p.S422C NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 398 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) GTTCAGGAAGGAGCGCGGCTC 0.627 NaN 0 0 0 0.010504 0 17 48 OR5I1 10798 broad.mit.edu 37 11 55702943 55702943 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:55702943C>G uc010ris.1 - 1 934 c.934G>C c.(934-936)GAT>CAT p.D312H NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CATGAAGAATCTACCTTTGAT 0.353 NaN 0 0 0 0.004672 0 3 21 OR8K3 219473 broad.mit.edu 37 11 56085843 56085843 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:56085843G>A uc010rjf.1 + 1 61 c.61G>A c.(61-63)GCT>ACT p.A21T NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CACAGATATCGCTGAGCTGCA 0.438 NaN 0 0 0 0.01441 0 42 102 OR5B17 219965 broad.mit.edu 37 11 58125948 58125948 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:58125948G>T uc010rke.1 - 1 595 c.595C>A c.(595-597)CTT>ATT p.L199I NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTTGATATAAGAACAAGAATC 0.363 NaN 1 0 0.00909568 0.009096 0.00950768 3 37 PITPNM1 9600 broad.mit.edu 37 11 67267792 67267792 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:67267792C>G uc001olx.2 - 5 930 c.741G>C c.(739-741)GAG>GAC p.E247D PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Missense_Mutation_p.E247D|PITPNM1_uc001olz.2_Missense_Mutation_p.E247D NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 247 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 TGCGAGCAGTCTCCTCTTCCA 0.682 NaN 0 0 0 0.01441 0 57 260 CPT1A 1374 broad.mit.edu 37 11 68525172 68525172 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:68525172C>G uc001oog.3 - 19 2432 c.2262G>C c.(2260-2262)CTG>CTC p.L754L CPT1A_uc001oof.3_Intron|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 754 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TTGCTTCTTTCAGGTGCCTTC 0.398 NaN 0 0 0 0.008291 0 9 39 ATM 472 broad.mit.edu 37 11 108216494 108216494 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:108216494G>A uc001pkb.1 + 58 8828 c.8443G>A c.(8443-8445)GAG>AAG p.E2815K ATM_uc009yxr.1_Missense_Mutation_p.E2815K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1467K NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2815 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTCTTTTGAAGAGAAATATGA 0.269 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.009096 0 3 67 C11orf63 79864 broad.mit.edu 37 11 122756667 122756667 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:122756667G>A uc001pym.2 + 2 407 c.110G>A c.(109-111)CGG>CAG p.R37Q C11orf63_uc001pyl.1_Missense_Mutation_p.R37Q NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 37 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GACTTACATCGGATTTCAAAA 0.433 NaN 0 0 0 0.012319 0 23 55 TMEM225 338661 broad.mit.edu 37 11 123753889 123753889 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:123753889G>C uc001pzi.2 - 4 842 c.634C>G c.(634-636)CTA>GTA p.L212V NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 212 integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 TTTTTGTTTAGGGAATTCACA 0.408 NaN 0 0 0 0.004007 0 15 72 ROBO4 54538 broad.mit.edu 37 11 124763844 124763844 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:124763844G>C uc001qbg.2 - 9 1556 c.1416C>G c.(1414-1416)GCC>GCG p.A472A ROBO4_uc010sas.1_Silent_p.A327A|ROBO4_uc001qbh.2_Silent_p.A362A|ROBO4_uc001qbi.2_Silent_p.A30A|ROBO4_uc010sat.1_Silent_p.A30A NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 472 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CACCGCAGGTGGCAATGACCT 0.652 NaN 0 0 0 0.001984 0 4 25 KIRREL3 84623 broad.mit.edu 37 11 126314964 126314964 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:126314964C>T uc001qea.2 - 10 1523 c.1162G>A c.(1162-1164)GTG>ATG p.V388M KIRREL3_uc001qeb.2_Missense_Mutation_p.V388M|KIRREL3_uc001qec.1_Missense_Mutation_p.V388M NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 388 Extracellular (Potential).|Ig-like C2-type 4. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TCCTGGCGCACGGATTTGAGG 0.617 NaN 0 0 0 0.00499 0 15 59 ARHGAP32 9743 broad.mit.edu 37 11 128856559 128856559 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:128856559C>T uc009zcp.2 - 13 1261 c.1261G>A c.(1261-1263)GAA>AAA p.E421K ARHGAP32_uc009zcq.1_Missense_Mutation_p.E381K|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.E72K|ARHGAP32_uc001qfb.2_Missense_Mutation_p.E206K NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 421 Rho-GAP. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GAGTCAAATTCATGGCTGACG 0.453 NaN 0 0 0 0.003163 0 14 49 ADAMTS15 170689 broad.mit.edu 37 11 130341218 130341218 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:130341218G>C uc010scd.1 + 7 2018 c.2018G>C c.(2017-2019)GGG>GCG p.G673A NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 673 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GACAAGTGTGGGGTGTGTGGG 0.567 NaN 0 0 0 0.006214 0 9 78 IGSF9B 22997 broad.mit.edu 37 11 133790010 133790010 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:133790010G>C uc001qgx.3 - 18 3841 c.3610C>G c.(3610-3612)CTG>GTG p.L1204V NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1204 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTTTGGGTCAGAGGTGAGAGC 0.711 NaN 0 0 0 0.008361 0 28 93 IQSEC3 440073 broad.mit.edu 37 12 247681 247681 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:247681G>A uc001qhw.1 + 1 249 c.243G>A c.(241-243)TCG>TCA p.S81S IQSEC3_uc001qhu.1_Silent_p.S81S|IQSEC3_uc001qht.1_Silent_p.S166S|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 384 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TGGTGCGCTCGCCCTCCCTGC 0.697 NaN 0 0 0 0.004672 0 3 5 FBXL14 144699 broad.mit.edu 37 12 1702939 1702939 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:1702939G>A uc001qjh.2 - 1 393 c.294C>T c.(292-294)AGC>AGT p.S98S WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Silent_p.S10S NM_152441 NP_689654 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 98 cytoplasm ovary(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) TGTAGCAGCCGCTGAGGTTGA 0.652 NaN 0 0 0 0.006122 0 14 75 NCAPD2 9918 broad.mit.edu 37 12 6634839 6634839 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:6634839C>G uc001qoo.2 + 18 2351 c.2305C>G c.(2305-2307)CTG>GTG p.L769V NCAPD2_uc009zen.1_Missense_Mutation_p.L641V|NCAPD2_uc010sfd.1_Missense_Mutation_p.L724V NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 769 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CTGCTGTCCTCTGGAGCGCTG 0.557 NaN 0 0 0 0.003163 0 13 21 SPSB2 84727 broad.mit.edu 37 12 6981672 6981672 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:6981672C>A uc001qrl.2 - 2 550 c.394G>T c.(394-396)GGC>TGC p.G132C SPSB2_uc001qrm.2_Missense_Mutation_p.G132C|SPSB2_uc010sfp.1_Missense_Mutation_p.G132C|LRRC23_uc001qrn.1_5'Flank NM_001146316 NP_001139788 Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box 132 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding kidney(1) 1 ATGTCCCAGCCCCACGACTCG 0.701 NaN OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.39806e-14 0.008361 1.63197e-14 23 114 BHLHE41 79365 broad.mit.edu 37 12 26275715 26275715 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:26275715C>T uc001rhb.2 - 5 1024 c.733G>A c.(733-735)GAA>AAA p.E245K NM_030762 NP_110389 Q9C0J9 BHE41_HUMAN basic helix-loop-helix domain containing, class 245 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCTCGGCTTCGCCGCCGTAG 0.736 NaN 0 0 0 0.004482 0 7 14 FAM113B 91523 broad.mit.edu 37 12 47629841 47629841 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:47629841G>A uc001rpn.2 + 4 1726 c.995G>A c.(994-996)CGG>CAG p.R332Q FAM113B_uc001rpq.2_Missense_Mutation_p.R332Q NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 332 Pro-rich. hydrolase activity p.R332W(1) skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) GGAATGCCCCGGTTCCCACAG 0.328 NaN 0 0 0 0.01441 0 37 178 DDN 23109 broad.mit.edu 37 12 49391444 49391444 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:49391444C>G uc001rsv.1 - 2 1233 c.1215G>C c.(1213-1215)TGG>TGC p.W405C uc001rsw.2_5'Flank NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 405 Interaction with ACTN1. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 CTCCGGGAGCCCAGGGTCTGG 0.627 NaN 0 0 0 0.020292 0 12 50 ITGA7 3679 broad.mit.edu 37 12 56094913 56094913 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:56094913C>G uc001shh.2 - 4 660 c.440G>C c.(439-441)AGG>ACG p.R147T ITGA7_uc001shg.2_Missense_Mutation_p.R147T|ITGA7_uc010sps.1_Missense_Mutation_p.R50T|ITGA7_uc009znx.2_Missense_Mutation_p.R34T NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 147 FG-GAP 2.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CACTCGCTGCCTTGCCTCATA 0.592 NaN 0 0 0 0.020292 0 11 202 HMGA2 8091 broad.mit.edu 37 12 66357034 66357034 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:66357034G>A uc001ssx.2 + 5 1103 c.292G>A c.(292-294)GAA>AAA p.E98K NM_003483 NP_003474 P52926 HMGA2_HUMAN high mobility group AT-hook 2 isoform a 98 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2) soft_tissue(159)|bone(27)|salivary_gland(22) 208 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) GGAGGAAACTGAAGAGACATC 0.512 NaN T LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT lipoma|leiomyoma|pleiomorphic salivary gland adenoma 0 0 0 0.003163 0 12 39 KRR1 11103 broad.mit.edu 37 12 75905364 75905364 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:75905364G>A uc001sxt.2 - 1 55 c.14C>T c.(13-15)TCG>TTG p.S5L KRR1_uc009zsc.2_Missense_Mutation_p.S5L|KRR1_uc010stx.1_Missense_Mutation_p.S5L NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 5 rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 CCGCTCCAGCGAGGGAGACGC 0.532 NaN 0 0 0 0.006214 0 9 49 GNPTAB 79158 broad.mit.edu 37 12 102158444 102158444 + Nonsense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:102158444G>A uc001tit.2 - 13 2430 c.2251C>T c.(2251-2253)CAA>TAA p.Q751* NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 751 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 ATTATAGCTTGATTTTTTATT 0.383 NaN 0 0 0 0.014758 0 5 26 ALDH1L2 160428 broad.mit.edu 37 12 105440691 105440691 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:105440691C>T uc001tlc.2 - 14 1870 c.1743G>A c.(1741-1743)AAG>AAA p.K581K ALDH1L2_uc009zuo.2_Silent_p.K36K|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 581 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 GTGGCTCTTTCTTGGTGAAGG 0.393 NaN 0 0 0 0.007835 0 35 159 ANAPC7 51434 broad.mit.edu 37 12 110826320 110826320 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:110826320G>C uc001tqo.2 - 4 620 c.619C>G c.(619-621)CTA>GTA p.L207V ANAPC7_uc001tqp.3_Missense_Mutation_p.L207V NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 207 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding 0 TCTCTACCTAGAATGGCATCA 0.373 NaN 0 0 0 0.006214 0 8 62 TBX5 6910 broad.mit.edu 37 12 114836395 114836395 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:114836395G>A uc001tvo.2 - 5 988 c.493C>T c.(493-495)CTG>TTG p.L165L TBX5_uc001tvp.2_Silent_p.L165L|TBX5_uc001tvq.2_Silent_p.L115L|TBX5_uc010syv.1_Silent_p.L165L NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 165 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AATGGGTCCAGGTGGTTGTTG 0.468 NaN 0 0 0 0.014758 0 5 30 TAOK3 51347 broad.mit.edu 37 12 118590040 118590040 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:118590040C>G uc001twx.2 - 20 2822 c.2527G>C c.(2527-2529)GAG>CAG p.E843Q TAOK3_uc001twv.2_Missense_Mutation_p.E383Q|TAOK3_uc001tww.2_Missense_Mutation_p.E673Q|TAOK3_uc001twy.3_Missense_Mutation_p.E843Q NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 843 Potential. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCTTCTGCTCAAGGTGTGCT 0.468 NaN 0 0 0 0.008291 0 8 67 TAOK3 51347 broad.mit.edu 37 12 118599765 118599765 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:118599765G>T uc001twx.2 - 18 2262 c.1967C>A c.(1966-1968)ACC>AAC p.T656N TAOK3_uc001twv.2_Missense_Mutation_p.T196N|TAOK3_uc001tww.2_Missense_Mutation_p.T486N|TAOK3_uc001twy.3_Missense_Mutation_p.T656N NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 656 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAGCTCTCGGGTGGACTCGTC 0.512 NaN 1 0 2.4624e-09 0.008871 2.80882e-09 16 62 GCN1L1 10985 broad.mit.edu 37 12 120597747 120597747 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:120597747G>C uc001txo.2 - 24 2644 c.2631C>G c.(2629-2631)ATC>ATG p.I877M NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 877 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAAAACAGGGATGTACTGGG 0.592 NaN 0 0 0 0.004007 0 14 88 CLIP1 6249 broad.mit.edu 37 12 122812709 122812709 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:122812709C>T uc001ucg.1 - 16 3140 c.3034G>A c.(3034-3036)GAA>AAA p.E1012K CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1012 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATTTTCTTTTCCTGCAGAGAC 0.493 NaN 0 0 0 0.009535 0 19 121 CCDC62 84660 broad.mit.edu 37 12 123297940 123297940 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:123297940G>A uc001udc.2 + 11 2120 c.1975G>A c.(1975-1977)GAG>AAG p.E659K CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.E659K|CCDC62_uc001ude.2_Missense_Mutation_p.E420K NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 isoform b 659 cytoplasm|nucleus ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) CATCAGCCATGAGAATCTCAC 0.498 NaN 0 0 0 0.006214 0 10 59 POLE 5426 broad.mit.edu 37 12 133218913 133218913 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:133218913G>A uc001uks.1 - 38 5067 c.5023C>T c.(5023-5025)CGC>TGC p.R1675C POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R479C|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1675 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGGAGGTGGCGGGCAAAGAAG 0.597 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.004656 0 26 45 FNDC3A 22862 broad.mit.edu 37 13 49760119 49760119 + Missense_Mutation SNP A A C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr13:49760119A>C uc001vcm.2 + 15 1942 c.1637A>C c.(1636-1638)GAA>GCA p.E546A FNDC3A_uc001vcn.2_Missense_Mutation_p.E546A|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E472A|FNDC3A_uc001vcq.2_Missense_Mutation_p.E490A NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 546 Fibronectin type-III 3. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TACAACTCAGAAGGTAAAAGT 0.353 NaN 0 0 0 0.001984 0 7 22 GAS6 2621 broad.mit.edu 37 13 114530137 114530137 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr13:114530137T>C uc001vud.2 - 12 1462 c.1309A>G c.(1309-1311)ATA>GTA p.I437V GAS6_uc001vug.2_Missense_Mutation_p.I138V|GAS6_uc001vuf.2_Missense_Mutation_p.I164V NM_000820 NP_000811 Q14393 GAS6_HUMAN growth arrest-specific 6 isoform 1 precursor 480 Laminin G-like 1. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4) 4 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CGAGGGTTTATCTGGAAAGGC 0.592 NaN 0 0 0 0.010818 0 27 79 DCAF11 80344 broad.mit.edu 37 14 24584853 24584853 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:24584853C>G uc001wlv.2 + 2 330 c.50C>G c.(49-51)TCC>TGC p.S17C NRL_uc001wlq.2_5'Flank|DCAF11_uc001wlw.2_Missense_Mutation_p.S17C|DCAF11_uc001wlz.2_5'UTR|DCAF11_uc001wly.2_5'UTR|DCAF11_uc001wme.2_Missense_Mutation_p.S17C|DCAF11_uc010tny.1_5'UTR|DCAF11_uc001wmd.2_Missense_Mutation_p.S17C|DCAF11_uc001wmc.2_5'UTR|DCAF11_uc001wmb.3_Missense_Mutation_p.S17C|DCAF11_uc001wma.3_Missense_Mutation_p.S17C NM_001163484 NP_001156956 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 isoform 1 17 CUL4 RING ubiquitin ligase complex protein binding 0 GGAGACCCCTCCGAGGGCTTG 0.617 NaN 0 0 0 0.01441 0 34 70 G2E3 55632 broad.mit.edu 37 14 31085657 31085657 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:31085657G>C uc001wqk.2 + 15 2192 c.2038G>C c.(2038-2040)GAG>CAG p.E680Q G2E3_uc010tpf.1_Missense_Mutation_p.E634Q|G2E3_uc001wql.1_Missense_Mutation_p.E192Q NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 680 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TACATATAAAGAGTTTCAAGA 0.333 NaN 0 0 0 0.006214 0 8 19 LRFN5 145581 broad.mit.edu 37 14 42361055 42361055 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:42361055T>C uc001wvm.2 + 4 3186 c.1988T>C c.(1987-1989)GTT>GCT p.V663A LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 663 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTCACAAATGTTGAATCCCAA 0.483 NaN HNSCC(30;0.082) 0 0 0 0.013537 0 11 28 SPATA7 55812 broad.mit.edu 37 14 88892876 88892876 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:88892876C>G uc001xwq.2 + 6 824 c.673C>G c.(673-675)CTT>GTT p.L225V SPATA7_uc001xwr.2_Missense_Mutation_p.L193V|SPATA7_uc001xws.2_Missense_Mutation_p.L161V|SPATA7_uc001xwt.2_Missense_Mutation_p.L119V|SPATA7_uc001xwu.2_5'Flank NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 225 response to stimulus|visual perception ovary(1) 1 CAGTGGGGATCTTTTGGATAA 0.438 NaN 0 0 0 0.010504 0 16 75 BTBD7 55727 broad.mit.edu 37 14 93712182 93712182 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:93712182C>T uc001ybo.2 - 10 2898 c.2572G>A c.(2572-2574)GAG>AAG p.E858K BTBD7_uc010aur.2_Missense_Mutation_p.E383K|BTBD7_uc010two.1_Missense_Mutation_p.E678K|BTBD7_uc001ybp.2_Missense_Mutation_p.E507K NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 858 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACTTGCTTCTCAGAtgctgct 0.448 NaN 0 0 0 0.016723 0 14 43 ATG2B 55102 broad.mit.edu 37 14 96784135 96784135 + Missense_Mutation SNP G G C rs113424169 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:96784135G>C uc001yfi.2 - 19 3302 c.2937C>G c.(2935-2937)TTC>TTG p.F979L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 979 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAATATTCTCGAATGTCTCCA 0.368 NaN 0 0 0 0.00623 0 32 83 AHNAK2 113146 broad.mit.edu 37 14 105413989 105413989 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr14:105413989G>A uc010axc.1 - 7 7919 c.7799C>T c.(7798-7800)GCG>GTG p.A2600V AHNAK2_uc001ypx.2_Missense_Mutation_p.A2500V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2600 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCACTTCCGCCTTGGGGCC 0.622 NaN 0 0 0 0.01441 0 41 217 C15orf55 256646 broad.mit.edu 37 15 34646669 34646669 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr15:34646669C>G uc001zif.2 + 5 1169 c.1014C>G c.(1012-1014)GCC>GCG p.A338A C15orf55_uc010ucc.1_Silent_p.A366A|C15orf55_uc010ucd.1_Silent_p.A356A NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 338 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) AGAAGGCAGCCTCCAAGACAC 0.557 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 0.012319 0 19 92 PPIB 5479 broad.mit.edu 37 15 64454323 64454323 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr15:64454323C>A uc002and.2 - 2 335 c.166G>T c.(166-168)GAT>TAT p.D56Y PPIB_uc010bgx.1_Missense_Mutation_p.D48Y NM_000942 NP_000933 P23284 PPIB_HUMAN peptidylprolyl isomerase B precursor 56 PPIase cyclophilin-type. protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding 0 L-Proline(DB00172) CGGCCTACATCTTCATCTCCA 0.463 NaN 1 0 1.67211e-32 0.01441 1.99061e-32 44 157 ISG20 3669 broad.mit.edu 37 15 89182733 89182733 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr15:89182733G>C uc002bmv.1 + 2 429 c.136G>C c.(136-138)GAG>CAG p.E46Q ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease 46 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity 0 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) CATCCGGCCTGAGGGAGAGAT 0.642 NaN 0 0 0 0.007413 0 15 117 HDDC3 374659 broad.mit.edu 37 15 91475081 91475081 + Nonsense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr15:91475081C>A uc002bqf.3 - 3 266 c.262G>T c.(262-264)GAG>TAG p.E88* UNC45A_uc002bqd.2_Intron|HDDC3_uc002bqe.3_Nonsense_Mutation_p.E88* NM_198527 NP_940929 Q8N4P3 MESH1_HUMAN HD domain containing 3 88 HD. guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity ovary(1) 1 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TCTGTTACCTCCTCCACCAGG 0.627 NaN OREG0023475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.05317e-09 0.020292 1.21054e-09 13 75 WDR90 197335 broad.mit.edu 37 16 716521 716521 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:716521G>T uc002cii.1 + 38 4861 c.4807G>T c.(4807-4809)GTC>TTC p.V1603F WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.V218F|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.V202F|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1603 WD 20. ovary(1) 1 Hepatocellular(780;0.0218) GCGGGTCAGCGTCTGGGCCTC 0.622 NaN 1 0 7.45023e-12 0.010504 8.66305e-12 18 51 MKL2 57496 broad.mit.edu 37 16 14345773 14345773 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:14345773G>A uc010uza.1 + 14 2613 c.2458G>A c.(2458-2460)GCC>ACC p.A820T MKL2_uc002dcg.2_Missense_Mutation_p.A770T|MKL2_uc002dcj.2_Missense_Mutation_p.A65T NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 809 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 GAGACATCCTGCCCCAGCTGT 0.423 NaN 0 0 0 0.009535 0 26 115 ATP2A1 487 broad.mit.edu 37 16 28914646 28914646 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:28914646G>A uc002dro.1 + 21 3049 c.2865G>A c.(2863-2865)ATG>ATA p.M955I uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.M955I|ATP2A1_uc002drp.1_Missense_Mutation_p.M830I NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 955 Lumenal (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGCCCCAGATGATCTTCAAGC 0.637 NaN 0 0 0 0.008871 0 17 259 QPRT 23475 broad.mit.edu 37 16 29708422 29708422 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:29708422G>A uc002dto.2 + 3 733 c.655G>A c.(655-657)GTC>ATC p.V219I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_RNA NM_014298 NP_055113 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 219 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity 0 Niacin(DB00627) TGCCGACCTTGTCCTGCTGGA 0.642 NaN 0 0 0 0.00308 0 6 47 MVP 9961 broad.mit.edu 37 16 29855914 29855914 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:29855914G>T uc002dui.2 + 11 1819 c.1735G>T c.(1735-1737)GTG>TTG p.V579L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.V579L|MVP_uc010vea.1_Missense_Mutation_p.V173L NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 579 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CGCATCCCGGGTGCGGGGGGC 0.562 NaN 1 0 3.65916e-55 0.01441 4.40863e-55 157 101 SETD1A 9739 broad.mit.edu 37 16 30992428 30992428 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:30992428G>T uc002ead.1 + 17 5425 c.4739G>T c.(4738-4740)TGG>TTG p.W1580L NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1580 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 ATCCACGAGTGGGGTCTGTTT 0.612 NaN 1 0 5.04308e-16 0.00623 5.93303e-16 35 227 CDH15 1013 broad.mit.edu 37 16 89260217 89260217 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:89260217G>C uc002fmt.2 + 13 2124 c.2047G>C c.(2047-2049)GGA>CGA p.G683R NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 683 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCTGCCTCTGGGACCGCCGCC 0.697 NaN 0 0 0 0.001168 0 5 40 TUBB3 10381 broad.mit.edu 37 16 90001364 90001364 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr16:90001364G>A uc002fph.1 + 4 570 c.505G>A c.(505-507)GTC>ATC p.V169I TUBB3_uc002fpf.2_Missense_Mutation_p.V516I|TUBB3_uc010ciz.1_Missense_Mutation_p.V97I|TUBB3_uc002fpg.1_Missense_Mutation_p.V23I|TUBB3_uc002fpi.1_Missense_Mutation_p.V97I|TUBB3_uc002fpj.1_Missense_Mutation_p.V97I|TUBB3_uc010cjb.1_Missense_Mutation_p.V23I|TUBB3_uc002fpk.1_Missense_Mutation_p.V23I NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 169 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CACCTTCAGCGTCGTGCCCTC 0.627 NaN 0 0 0 0.01441 0 53 187 PELP1 27043 broad.mit.edu 37 17 4578480 4578480 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:4578480G>A uc002fyi.3 - 11 1394 c.1168C>T c.(1168-1170)CGG>TGG p.R390W PELP1_uc010vsf.1_Missense_Mutation_p.R243W NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 390 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 CGCAAGAGCCGGCTTCCACAC 0.612 NaN 0 0 0 0.004672 0 3 20 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:4619828A>C uc002fyj.2 + 5 510 c.282A>C c.(280-282)CCA>CCC p.P94P ARRB2_uc002fyk.2_Silent_p.P79P|ARRB2_uc002fyl.2_Silent_p.P94P|ARRB2_uc010vsg.1_Silent_p.P94P|ARRB2_uc002fym.2_Silent_p.P79P|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'Flank NM_004313 NP_004304 P32121 ARRB2_HUMAN arrestin, beta 2 isoform 1 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding 0 TGCCCAACCCACCCCGGCCCC 0.667 NaN 0 0 0 0.013726 0 13 60 CXCL16 58191 broad.mit.edu 37 17 4642109 4642109 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:4642109C>G uc002fyr.3 - 2 775 c.243G>C c.(241-243)CTG>CTC p.L81L CXCL16_uc002fyq.3_5'Flank|CXCL16_uc002fys.3_Silent_p.L81L|ZMYND15_uc002fyv.2_5'Flank|ZMYND15_uc002fyt.2_5'Flank|ZMYND15_uc002fyu.2_5'Flank NM_022059 NP_071342 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 62 Extracellular (Potential).|Chemokine. lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity 0 GGTAAGCTCTCAGGTGTTTCC 0.552 NaN 0 0 0 0.00499 0 12 43 ASGR1 432 broad.mit.edu 37 17 7077715 7077715 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:7077715C>G uc002ges.3 - 6 830 c.420G>C c.(418-420)CAG>CAC p.Q140H ASGR1_uc010clx.1_Missense_Mutation_p.Q39H NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 140 Extracellular (Probable). receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 GCGCCGCCATCTGACAGCTCA 0.682 NaN 0 0 0 0.004007 0 16 20 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.01441 0 52 40 DNAH2 146754 broad.mit.edu 37 17 7702490 7702490 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:7702490T>C uc002giu.1 + 55 8643 c.8629T>C c.(8629-8631)TAC>CAC p.Y2877H NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2877 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTCTTCGCCTACCTCATTGA 0.592 NaN 0 0 0 0.004672 0 3 68 MYH10 4628 broad.mit.edu 37 17 8397110 8397110 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:8397110C>G uc002gll.2 - 30 4153 c.4057G>C c.(4057-4059)GAG>CAG p.E1353Q MYH10_uc002glm.2_Missense_Mutation_p.E1384Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1362Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1353 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 TCCTCCTCCTCCTGCTGCTCC 0.587 NaN 0 0 0 0.009096 0 3 49 MYH3 4621 broad.mit.edu 37 17 10538231 10538231 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:10538231C>T uc002gmq.1 - 30 4359 c.4282G>A c.(4282-4284)GAT>AAT p.D1428N NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1428 Potential. 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 ACCATCAGATCCTCCACCTCT 0.537 NaN 0 0 0 0.01441 0 53 36 UTP6 55813 broad.mit.edu 37 17 30205295 30205295 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:30205295G>C uc002hgr.2 - 13 1182 c.1099C>G c.(1099-1101)CTG>GTG p.L367V UTP6_uc002hgq.2_Missense_Mutation_p.L183V|UTP6_uc010cst.2_Missense_Mutation_p.L216V NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 367 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CATTCTGACAGAAGCTTCAGT 0.408 NaN 0 0 0 0.01892 0 17 77 UTP18 51096 broad.mit.edu 37 17 49340655 49340655 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:49340655G>C uc002its.2 + 2 412 c.363G>C c.(361-363)TCG>TCC p.S121S NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 121 rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) ATGAAGACTCGGGTGACTCAG 0.438 NaN 0 0 0 0.010729 0 10 46 ANKFN1 162282 broad.mit.edu 37 17 54431282 54431282 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:54431282C>G uc002iun.1 + 5 520 c.485C>G c.(484-486)CCA>CGA p.P162R NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 162 ANK 1. large_intestine(1)|ovary(1) 2 CAGTACACACCAGAAGAACTT 0.493 NaN 0 0 0 0.008871 0 17 58 KIAA0195 9772 broad.mit.edu 37 17 73486837 73486837 + Nonsense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:73486837C>T uc002jnz.3 + 11 1401 c.1126C>T c.(1126-1128)CAG>TAG p.Q376* KIAA0195_uc010wsa.1_Nonsense_Mutation_p.Q386*|KIAA0195_uc010wsb.1_Nonsense_Mutation_p.Q28* NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 376 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGTCTCCTCTCAGGTACAACA 0.557 NaN 0 0 0 0.016723 0 12 44 ARL16 339231 broad.mit.edu 37 17 79650829 79650829 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:79650829C>G uc002kbf.2 - 1 126 c.27G>C c.(25-27)TTG>TTC p.L9F ARL16_uc002kbe.2_5'Flank|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank NM_001040025 NP_001035114 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 9 GTP binding 0 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CGCCGCGGCTCAAGGCCCGCC 0.637 NaN 0 0 0 0.009096 0 4 28 ZNF750 79755 broad.mit.edu 37 17 80789199 80789199 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:80789199C>T uc002kga.2 - 2 1443 c.1132G>A c.(1132-1134)GAA>AAA p.E378K TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 378 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) ATTGGACTTTCGAACTCGACG 0.572 NaN 0 0 0 0.005443 0 22 108 TBCD 6904 broad.mit.edu 37 17 80887006 80887006 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr17:80887006G>T uc002kfz.2 + 31 2841 c.2711G>T c.(2710-2712)TGC>TTC p.C904F TBCD_uc002kfy.1_Missense_Mutation_p.C904F|TBCD_uc002kgb.1_Missense_Mutation_p.C229F|TBCD_uc002kgc.2_Missense_Mutation_p.C49F|TBCD_uc002kgd.2_5'Flank NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 904 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CGCATCATGTGCTGTGTGGCC 0.612 NaN 1 0 0.00448238 0.004482 0.0047183 7 71 LAMA3 3909 broad.mit.edu 37 18 21519274 21519274 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr18:21519274C>T uc002kuq.2 + 68 9036 c.8950C>T c.(8950-8952)CAT>TAT p.H2984Y LAMA3_uc002kur.2_Missense_Mutation_p.H2928Y|LAMA3_uc002kus.3_Missense_Mutation_p.H1375Y|LAMA3_uc002kut.3_Missense_Mutation_p.H1319Y NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2984 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGGCCAATCATGGAGCCCT 0.547 NaN 0 0 0 0.01441 0 75 196 RNF126 55658 broad.mit.edu 37 19 648951 648951 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:648951C>A uc010drs.2 - 7 707 c.601G>T c.(601-603)GGC>TGC p.G201C RNF126_uc002lpi.2_Missense_Mutation_p.G25C NM_194460 NP_919442 Q9BV68 RN126_HUMAN ring finger protein 126 201 protein binding|zinc ion binding 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGGGGGCCTGTGTTTTCA 0.552 NaN 1 0 0.000602214 0.014758 0.000642934 4 13 PCSK4 54760 broad.mit.edu 37 19 1489889 1489889 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:1489889G>C uc002ltb.1 - 2 259 c.197C>G c.(196-198)CCT>CGT p.P66R PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 66 P -> S (in Ref. 1; AAQ89322 and 3; AAH36354). proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCCCGTCAGGGAAGATCTG 0.672 NaN 0 0 0 0.014758 0 3 14 MBD3 53615 broad.mit.edu 37 19 1584563 1584563 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:1584563C>T uc002ltl.1 - 3 406 c.384G>A c.(382-384)CAG>CAA p.Q128Q MBD3_uc002ltj.2_Silent_p.Q128Q|MBD3_uc002ltk.2_Silent_p.Q96Q NM_003926 NP_003917 O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 128 transcription, DNA-dependent NuRD complex DNA binding|protein binding ovary(1)|pancreas(1)|skin(1) 3 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCGCCTTCTGCGGGTCGC 0.632 NaN 0 0 0 0.004656 0 25 89 SH3GL1 6455 broad.mit.edu 37 19 4363777 4363777 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:4363777C>G uc002maj.2 - 6 670 c.564G>C c.(562-564)GAG>GAC p.E188D SH3GL1_uc002mak.2_Missense_Mutation_p.E124D|SH3GL1_uc010xig.1_Missense_Mutation_p.E140D NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 188 Potential.|BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCTCGAACTTCTCCAGCGCCT 0.582 NaN T MLL AL 0 0 0 0.012319 0 20 85 NRTN 4902 broad.mit.edu 37 19 5824095 5824095 + Translation_Start_Site SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:5824095C>A uc002mde.2 + 1 278 c.-81C>A c.(-83--79)TCCTG>TCATG NM_004558 NP_004549 Q99748 NRTN_HUMAN neurturin preproprotein axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region growth factor activity 0 ACACTGAGTCCTGGCCCAGCG 0.632 NaN 1 0 0.000602214 0.014758 0.000642934 5 27 MLLT1 4298 broad.mit.edu 37 19 6230661 6230661 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:6230661C>A uc002mek.2 - 4 504 c.340G>T c.(340-342)GTG>TTG p.V114L NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 114 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 AGGTGGTTCACGGGCGGGTTG 0.612 NaN T MLL AL 1 0 2.17066e-49 0.01441 2.60479e-49 97 162 CNN1 1264 broad.mit.edu 37 19 11660204 11660204 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:11660204G>A uc002msc.1 + 6 732 c.568G>A c.(568-570)GAC>AAC p.D190N CNN1_uc010xmb.1_Missense_Mutation_p.D140N|CNN1_uc010xmc.1_Missense_Mutation_p.D140N NM_001299 NP_001290 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 190 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding 0 CCACCTCTACGACCCCAAGCT 0.617 NaN 0 0 0 0.007413 0 16 77 COMP 1311 broad.mit.edu 37 19 18902016 18902016 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:18902016C>A uc002nke.2 - 1 99 c.63G>T c.(61-63)CAG>CAT p.Q21H COMP_uc002nkd.2_Translation_Start_Site|COMP_uc010xqj.1_Missense_Mutation_p.Q21H NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 21 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 GGCTCTGGCCCTGTCCGGACG 0.697 NaN 1 0 7.48243e-07 0.006214 8.28313e-07 9 8 ZNF737 100129842 broad.mit.edu 37 19 20728275 20728275 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:20728275G>A uc002npa.2 - 4 914 c.734C>T c.(733-735)ACT>ATT p.T245I NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 245 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CTTATGTGCAGTAAGGTATGA 0.403 NaN 0 0 0 0.004672 0 3 26 ZNF626 199777 broad.mit.edu 37 19 20828521 20828521 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:20828521C>A uc002npb.1 - 3 345 c.195G>T c.(193-195)ATG>ATT p.M65I ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.M65I NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CATTTCTCTTCATGGTCAAAG 0.388 NaN 1 0 0.00024832 0.009096 0.000267011 4 45 ZNF626 199777 broad.mit.edu 37 19 20829085 20829085 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:20829085C>A uc002npb.1 - 2 280 c.130G>T c.(130-132)GGT>TGT p.G44C ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.G44C NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTATCCTCACCAAGGAAGACC 0.333 NaN 1 0 1.05317e-09 0.020292 1.21054e-09 13 80 MLL4 9757 broad.mit.edu 37 19 36212397 36212397 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:36212397G>C uc010eei.2 + 3 2148 c.2148G>C c.(2146-2148)AAG>AAC p.K716N NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 716 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCTGTTAAGGCCGAGGTGT 0.657 NaN 0 0 0 0.00499 0 15 76 ZNF383 163087 broad.mit.edu 37 19 37733545 37733545 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:37733545G>C uc002oft.1 + 8 987 c.407G>C c.(406-408)GGG>GCG p.G136A ZNF383_uc002ofs.1_Missense_Mutation_p.G71A|ZNF383_uc002ofu.1_Missense_Mutation_p.G136A NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATCCAAATGGGCATTTTAGT 0.378 NaN 0 0 0 0.008871 0 17 82 FBXO27 126433 broad.mit.edu 37 19 39521746 39521746 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:39521746C>G uc002okh.2 - 4 577 c.495G>C c.(493-495)CAG>CAC p.Q165H NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 165 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GGTCCAAGACCTGCTTCTTGC 0.527 NaN 0 0 0 0.012213 0 29 144 HIPK4 147746 broad.mit.edu 37 19 40895437 40895437 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:40895437C>T uc002onp.2 - 1 658 c.373G>A c.(373-375)GCC>ACC p.A125T NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 125 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TTGAGCCGGGCCAGGGCTGTG 0.602 NaN 0 0 0 0.01892 0 19 92 CYP2A7 1549 broad.mit.edu 37 19 41386396 41386396 + Silent SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:41386396G>T uc002opm.2 - 3 1023 c.481C>A c.(481-483)CGG>AGG p.R161R CYP2A7_uc002opo.2_Silent_p.R161R|CYP2A7_uc002opn.2_Silent_p.R110R NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 161 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGCGTGCTCCGGATGGCCTCG 0.662 NaN 1 0 1.836e-18 0.017118 2.16851e-18 29 173 IRGC 56269 broad.mit.edu 37 19 44223733 44223733 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:44223733G>A uc002oxh.2 + 2 1170 c.1023G>A c.(1021-1023)GAG>GAA p.E341E NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 341 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) TCTCGCCTGAGACTGTCCTGC 0.677 NaN 0 0 0 0.010729 0 10 64 ZNF227 7770 broad.mit.edu 37 19 44739769 44739769 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:44739769C>T uc002oyu.2 + 6 1391 c.1186C>T c.(1186-1188)CGT>TGT p.R396C ZNF227_uc010xwu.1_Missense_Mutation_p.R345C|ZNF227_uc002oyv.2_Missense_Mutation_p.R396C|ZNF227_uc010xwv.1_Missense_Mutation_p.R345C|ZNF227_uc010xww.1_Missense_Mutation_p.R317C|ZNF227_uc002oyw.2_Missense_Mutation_p.R368C|ZNF227_uc010ejh.2_Missense_Mutation_p.R389C|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 396 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) TGTTAATCTCCGTGTTCACCA 0.463 NaN 0 0 0 0.008871 0 19 39 ZFP112 7771 broad.mit.edu 37 19 44832239 44832239 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:44832239C>G uc010ejj.2 - 5 2202 c.2089G>C c.(2089-2091)GAG>CAG p.E697Q ZFP112_uc002ozc.3_Missense_Mutation_p.E691Q|ZFP112_uc010xwy.1_Missense_Mutation_p.E714Q|ZFP112_uc010xwz.1_Missense_Mutation_p.E696Q NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 697 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TTACCACACTCATCACATTGG 0.448 NaN 0 0 0 0.00308 0 8 41 FBXO46 23403 broad.mit.edu 37 19 46216736 46216736 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:46216736G>A uc002pcy.2 - 2 143 c.18C>T c.(16-18)CTC>CTT p.L6L FBXO46_uc002pcz.2_Silent_p.L6L NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 6 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGAAGGGCAGGAGGCTCCCAC 0.657 NaN 0 0 0 0.001168 0 5 68 CCDC8 83987 broad.mit.edu 37 19 46914959 46914959 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:46914959T>C uc002pep.2 - 1 1961 c.1109A>G c.(1108-1110)GAG>GGG p.E370G NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 370 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) AGCTGGGGCCTCTGCCCTCTG 0.607 NaN 0 0 0 0.004482 0 5 227 DHX34 9704 broad.mit.edu 37 19 47865903 47865903 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:47865903C>G uc010xyn.1 + 6 1887 c.1546C>G c.(1546-1548)CCC>GCC p.P516A DHX34_uc010elc.1_Missense_Mutation_p.P431A NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 516 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CGCCCCCTACCCCGTCCCAGA 0.652 NaN 0 0 0 0.003163 0 12 40 AP2A1 160 broad.mit.edu 37 19 50302585 50302585 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:50302585G>C uc002ppn.2 + 9 1178 c.967G>C c.(967-969)GAG>CAG p.E323Q AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.E323Q|AP2A1_uc002ppp.1_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 323 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) TGCTGGCAGTGAGCCCAACCT 0.637 NaN 0 0 0 0.020292 0 11 31 LILRA2 11027 broad.mit.edu 37 19 55086317 55086318 + Nonsense_Mutation DNP GG GG TA TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:55086317_55086318GG>TA uc002qgg.3 + 4 561_562 c.472_473GG>TA c.(472-474)GGA>TAA p.G158* LILRA2_uc010ern.2_Nonsense_Mutation_p.G158*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.G158*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.G158*|LILRA2_uc010yff.1_Nonsense_Mutation_p.G146*|LILRA2_uc010ero.2_Nonsense_Mutation_p.G146*|LILRA2_uc010yfg.1_Nonsense_Mutation_p.G158* NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 158 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GTGTAAGGAAGGAGAAGATGAA 0.604 NaN 0 0 0 0.004672 0 24 162 LILRA1 11024 broad.mit.edu 37 19 55106715 55106715 + Nonsense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:55106715C>G uc002qgh.1 + 5 691 c.509C>G c.(508-510)TCA>TGA p.S170* LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Nonsense_Mutation_p.S170* NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 170 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) TGCCTGAACTCACAGCCCCGT 0.567 NaN 0 0 0 0.00874 0 36 208 KIR3DL1 3811 broad.mit.edu 37 19 55341573 55341573 + Missense_Mutation SNP C C G rs1130473 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:55341573C>G uc002qhk.3 + 9 1241 c.1178C>G c.(1177-1179)CCT>CGT p.P393R KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P318R|KIR3DL1_uc010esf.2_Missense_Mutation_p.P298R|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P335R|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 393 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) GAACAAGACCCTGAGGAGGTG 0.522 NaN 0 0 0 0.01441 0 85 410 TNNT1 7138 broad.mit.edu 37 19 55653248 55653248 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr19:55653248C>G uc002qjb.3 - 7 258 c.169G>C c.(169-171)GAA>CAA p.E57Q TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Missense_Mutation_p.E57Q|TNNT1_uc002qje.3_Missense_Mutation_p.E46Q|TNNT1_uc002qjd.3_Missense_Mutation_p.E46Q|TNNT1_uc002qjf.2_Missense_Mutation_p.E53Q NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 57 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CGCTCCCCTTCTGGGATCTTT 0.448 NaN 0 0 0 0.011902 0 35 212 SH3YL1 26751 broad.mit.edu 37 2 234213 234213 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:234213G>C uc002qvx.2 - 5 435 c.351C>G c.(349-351)GGC>GGG p.G117G SH3YL1_uc002qvy.2_Silent_p.G117G|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Silent_p.G21G|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Silent_p.G21G|SH3YL1_uc002qvw.2_RNA NM_015677 NP_056492 Q96HL8 SH3Y1_HUMAN SH3 domain containing, Ysc84-like 1 isoform 1 117 ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) TCAGATTTCCGCCTTTTGCAA 0.418 NaN 0 0 0 0.007413 0 15 118 KLF11 8462 broad.mit.edu 37 2 10186443 10186443 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:10186443G>T uc002raf.1 + 2 371 c.209G>T c.(208-210)AGA>ATA p.R70I KLF11_uc010yjc.1_Missense_Mutation_p.R53I NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 70 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TTGCGGATAAGACCCCTCACG 0.512 NaN 1 0 7.03913e-09 0.013537 7.96882e-09 10 45 FAM49A 81553 broad.mit.edu 37 2 16747025 16747025 + Silent SNP A A G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:16747025A>G uc010exm.1 - 3 229 c.81T>C c.(79-81)CCT>CCC p.P27P FAM49A_uc002rck.1_Silent_p.P27P NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 27 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CTCCTTCTGTAGGCTGAGCAT 0.498 NaN 0 0 0 0.004672 0 3 29 C2orf16 84226 broad.mit.edu 37 2 27800283 27800283 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:27800283G>A uc002rkz.3 + 1 895 c.844G>A c.(844-846)GAG>AAG p.E282K NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 282 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GTTGACCGCTGAGGCAAGGAT 0.463 NaN 0 0 0 0.021523 0 26 54 VIT 5212 broad.mit.edu 37 2 37035743 37035743 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:37035743G>C uc002rpl.2 + 15 1739 c.1518G>C c.(1516-1518)TTG>TTC p.L506F VIT_uc002rpm.2_Missense_Mutation_p.L484F|VIT_uc010ezv.2_Missense_Mutation_p.L462F|VIT_uc010ezw.2_Missense_Mutation_p.L463F NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 491 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) AGACCTGCTTGAACTCGGCTG 0.612 NaN 0 0 0 0.021523 0 20 136 SPTBN1 6711 broad.mit.edu 37 2 54883083 54883084 + Missense_Mutation DNP GA GA TT TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:54883083_54883084GA>TT uc002rxu.2 + 29 6243_6244 c.5994_5995GA>TT c.(5992-5997)AAGAGG>AATTGG p.1998_1999KR>NW SPTBN1_uc002rxx.2_Missense_Mutation_p.1985_1986KR>NW|SPTBN1_uc002rxy.2_Missense_Mutation_p.143_144KR>NW|SPTBN1_uc010you.1_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1998_1999 Spectrin 17.|Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TGACGGAAAAGAGGAAAGAAAT 0.411 NaN 0 0 0 0.004672 0 5 38 ZAP70 7535 broad.mit.edu 37 2 98340715 98340715 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:98340715C>T uc002syd.1 + 3 423 c.216C>T c.(214-216)GCC>GCT p.A72A ZAP70_uc010yvf.1_Silent_p.A72A|ZAP70_uc002sye.1_5'Flank NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 72 SH2 1. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 ACGCCATTGCCGGCGGCAAAG 0.677 NaN 0 0 0 0.004672 0 3 34 EIF5B 9669 broad.mit.edu 37 2 99993068 99993068 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:99993068G>C uc002tab.2 + 10 1995 c.1811G>C c.(1810-1812)AGG>ACG p.R604T NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 604 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 AAAGAAGAAAGGGCTTATGAC 0.373 NaN 0 0 0 0.016723 0 10 41 MERTK 10461 broad.mit.edu 37 2 112779916 112779916 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:112779916G>A uc002thk.1 + 18 2553 c.2431G>A c.(2431-2433)GAC>AAC p.D811N MERTK_uc002thl.1_Missense_Mutation_p.D635N NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 811 Protein kinase.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TGAGATGTATGACTATCTTCT 0.537 NaN 0 0 0 0.00499 0 17 47 CBWD2 150472 broad.mit.edu 37 2 114195539 114195539 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:114195539G>C uc002tju.2 + 1 272 c.94G>C c.(94-96)GAG>CAG p.E32Q CBWD2_uc002tjt.2_Missense_Mutation_p.E32Q|CBWD2_uc010yxw.1_5'UTR|CBWD2_uc002tjv.2_5'UTR|CBWD2_uc010fkv.2_RNA NM_172003 NP_742000 Q8IUF1 CBWD2_HUMAN COBW domain-containing protein 2 32 Poly-Glu. ATP binding|protein binding 0 GCAAAGCGAGGAGGAGGAAAA 0.547 NaN 0 0 0 0.001168 0 5 205 SP110 3431 broad.mit.edu 37 2 231081529 231081529 + Silent SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:231081529T>C uc002vqh.3 - 2 354 c.114A>G c.(112-114)CTA>CTG p.L38L SP110_uc002vqg.3_Silent_p.L38L|SP110_uc002vqi.3_Silent_p.L38L|SP110_uc010fxk.2_Silent_p.L38L NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 38 HSR. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGGAGTTGTCTAGGAGGCCTT 0.483 NaN 0 0 0 0.010504 0 18 70 UGT1A9 54600 broad.mit.edu 37 2 234581244 234581244 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:234581244C>T uc002vus.2 + 1 701 c.664C>T c.(664-666)CGT>TGT p.R222C UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R222C NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 222 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) ATTATGCCACCGTTTTTTCAA 0.428 NaN 0 0 0 0.01441 0 52 132 UGT1A6 54578 broad.mit.edu 37 2 234602440 234602440 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:234602440C>T uc002vuv.3 + 1 929 c.790C>T c.(790-792)CCT>TCT p.P264S 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_Missense_Mutation_p.P264S NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 264 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GCTTGAATATCCTAGGCCGGT 0.433 NaN 0 0 0 0.01441 0 87 256 HJURP 55355 broad.mit.edu 37 2 234761219 234761219 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr2:234761219C>T uc002vvg.2 - 3 298 c.232G>A c.(232-234)GAG>AAG p.E78K HJURP_uc010znd.1_Missense_Mutation_p.E71K|HJURP_uc010zne.1_Missense_Mutation_p.E71K NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 78 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACCTGGATCTCTCCTTCGTTT 0.378 NaN 0 0 0 0.014758 0 5 15 ZCCHC3 85364 broad.mit.edu 37 20 278815 278815 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:278815G>C uc002wdf.2 + 2 609 c.585G>C c.(583-585)ATG>ATC p.M195I ZCCHC3_uc002wdg.2_Intron NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 196 nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCATCGGCATGGACCCGAGCG 0.647 NaN 0 0 0 0.004482 0 7 43 MAVS 57506 broad.mit.edu 37 20 3846784 3846784 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:3846784G>A uc002wjw.3 + 7 1782 c.1613G>A c.(1612-1614)CGT>CAT p.R538H MAVS_uc002wjx.3_Missense_Mutation_p.R397H|MAVS_uc002wjy.3_Missense_Mutation_p.R236H NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 538 Mitochondrial intermembrane (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 TACCGGCGGCGTCTGCACTAG 0.637 NaN 0 0 0 0.013537 0 9 48 SPTLC3 55304 broad.mit.edu 37 20 13074186 13074186 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:13074186G>T uc002wod.1 + 6 1077 c.788G>T c.(787-789)CGA>CTA p.R263L NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 263 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) CTTGGGGCCCGACTCTCAGGT 0.398 NaN 1 0 1.26484e-09 0.00308 1.4483e-09 6 77 E2F1 1869 broad.mit.edu 37 20 32264765 32264765 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:32264765C>G uc002wzu.3 - 7 1227 c.1087G>C c.(1087-1089)GGC>CGC p.G363R NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank NM_005225 NP_005216 Q01094 E2F1_HUMAN E2F transcription factor 1 363 Required for interaction with TRIM28. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding 0 CGCAGGCTGCCCATCCGGGAC 0.726 NaN 0 0 0 0.00308 0 5 18 DLGAP4 22839 broad.mit.edu 37 20 35068239 35068239 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:35068239G>A uc002xff.2 + 5 1759 c.1324G>A c.(1324-1326)GAC>AAC p.D442N DLGAP4_uc010zvp.1_Missense_Mutation_p.D442N NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 442 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCCGTCAGCGACAGCCTCAA 0.632 NaN OREG0025903 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004007 0 14 53 DSN1 79980 broad.mit.edu 37 20 35383166 35383166 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:35383166C>G uc010gfr.2 - 10 1334 c.961G>C c.(961-963)GGA>CGA p.G321R DSN1_uc002xfz.2_Missense_Mutation_p.G321R|DSN1_uc002xfy.3_Missense_Mutation_p.G111R|DSN1_uc002xga.2_Missense_Mutation_p.G321R|DSN1_uc010zvs.1_Missense_Mutation_p.G214R|DSN1_uc002xgc.2_Missense_Mutation_p.G305R|DSN1_uc002xgb.2_Missense_Mutation_p.G305R NM_001145316 NP_001138788 Q9H410 DSN1_HUMAN DSN1, MIND kinetochore complex component, 321 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding ovary(2) 2 Myeloproliferative disorder(115;0.00874) ACAAGCTTACCGAGCTGTACT 0.473 NaN 0 0 0 0.014758 0 5 35 RPN2 6185 broad.mit.edu 37 20 35865107 35865107 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:35865107C>G uc002xgp.2 + 16 2182 c.1878C>G c.(1876-1878)GTC>GTG p.V626V RPN2_uc002xgq.2_Silent_p.V594V NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 626 Cytoplasmic (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AGCAGGCAGTCAAGAGGTAAG 0.532 NaN 0 0 0 0.020292 0 12 85 VSTM2L 128434 broad.mit.edu 37 20 36572409 36572409 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:36572409C>T uc002xhk.3 + 4 623 c.369C>T c.(367-369)ATC>ATT p.I123I NM_080607 NP_542174 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 123 Ig-like. ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) GCAGCAACATCTCCCACAAGC 0.652 NaN 0 0 0 0.001984 0 5 42 ZNFX1 57169 broad.mit.edu 37 20 47866170 47866170 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:47866170G>T uc002xui.2 - 14 3638 c.3391C>A c.(3391-3393)CAG>AAG p.Q1131K NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1131 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCTCATGCTGGTTCTGATGG 0.493 NaN 1 0 2.56e-06 0.009096 2.81319e-06 4 125 PHACTR3 116154 broad.mit.edu 37 20 58322813 58322813 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:58322813C>T uc002yau.2 + 3 748 c.281C>T c.(280-282)GCG>GTG p.A94V PHACTR3_uc002yat.2_Missense_Mutation_p.A91V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A53V|PHACTR3_uc002yav.2_Missense_Mutation_p.A53V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A53V|PHACTR3_uc002yax.2_Missense_Mutation_p.A53V NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 94 RPEL 1. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TGTTGGGCAGCGCTGGAGAAG 0.577 NaN 0 0 0 0.010818 0 30 119 DIDO1 11083 broad.mit.edu 37 20 61513532 61513532 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:61513532C>A uc002ydr.1 - 16 4040 c.3776G>T c.(3775-3777)GGG>GTG p.G1259V DIDO1_uc002yds.1_Missense_Mutation_p.G1259V NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1259 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CGGCGGCGACCCAGGAGGTGT 0.622 NaN 1 0 3.13743e-37 0.01441 3.74992e-37 66 262 KRTAP19-1 337882 broad.mit.edu 37 21 31852400 31852400 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr21:31852400C>T uc011acx.1 - 1 237 c.237G>A c.(235-237)TCG>TCA p.S79S NM_181607 NP_853638 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 79 26 X 2 AA repeats of G-[YCGS]. intermediate filament 0 CTCCATTGTACGATGGGCGGC 0.493 NaN 0 0 0 0.017118 0 30 258 DNAJC28 54943 broad.mit.edu 37 21 34861116 34861116 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr21:34861116C>A uc002yrv.2 - 2 1034 c.585G>T c.(583-585)AAG>AAT p.K195N DNAJC28_uc002yrw.2_Missense_Mutation_p.K195N NM_017833 NP_060303 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 195 heat shock protein binding 0 CTTGCGTTATCTTTTGCTGTT 0.373 NaN 1 0 1.67942e-08 0.006122 1.88698e-08 17 59 SETD4 54093 broad.mit.edu 37 21 37408469 37408469 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr21:37408469C>G uc002yuw.1 - 10 2642 c.1269G>C c.(1267-1269)AAG>AAC p.K423N SETD4_uc002yux.1_Missense_Mutation_p.K399N|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.K423N NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN SET domain containing 4 isoform a 423 EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). large_intestine(1)|ovary(1) 2 CCCTGAGAATCTTTAGCTCTT 0.443 NaN 0 0 0 0.01441 0 38 132 UBASH3A 53347 broad.mit.edu 37 21 43854960 43854960 + Missense_Mutation SNP A A T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr21:43854960A>T uc002zbe.2 + 10 1325 c.1289A>T c.(1288-1290)GAC>GTC p.D430V UBASH3A_uc002zbf.2_Missense_Mutation_p.D392V|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.D392V NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 430 Phosphatase-like. cytosol|nucleus ovary(3) 3 TACAGGCCAGACCTGAATTTC 0.443 NaN 0 0 0 0.00499 0 14 39 KRTAP10-7 386675 broad.mit.edu 37 21 46021232 46021232 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr21:46021232C>G uc002zfn.3 + 2 721 c.696C>G c.(694-696)GTC>GTG p.V232V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 237 30 X 5 AA repeats of C-C-X(3).|17. keratin filament 0 GTGTGCCTGTCTGCTGCAAGC 0.652 NaN 0 0 0 0.01441 0 34 345 PCNT 5116 broad.mit.edu 37 21 47847581 47847581 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr21:47847581G>A uc002zji.3 + 34 7473 c.7366G>A c.(7366-7368)GTT>ATT p.V2456I PCNT_uc002zjj.2_Missense_Mutation_p.V2338I NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2456 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CCTTCTGCAGGTTGTGCAAGA 0.577 NaN 0 0 0 0.008871 0 19 86 DGCR8 54487 broad.mit.edu 37 22 20074017 20074017 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr22:20074017G>C uc002zri.2 + 2 881 c.531G>C c.(529-531)GAG>GAC p.E177D DGCR8_uc010grz.2_Missense_Mutation_p.E177D|DGCR8_uc002zrj.2_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 177 Necessary for nuclear localization and retention.|Necessary for interaction with NCL. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) TAGGGGGTGAGAGTGCTGATA 0.537 NaN 0 0 0 0.01441 0 68 471 TOM1 10043 broad.mit.edu 37 22 35719129 35719129 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr22:35719129C>A uc003ann.2 + 4 450 c.325C>A c.(325-327)CCA>ACA p.P109T TOM1_uc011ami.1_Missense_Mutation_p.P76T|TOM1_uc011amj.1_5'UTR|TOM1_uc003ans.2_5'UTR|TOM1_uc011amk.1_Missense_Mutation_p.P71T|TOM1_uc003anp.2_Missense_Mutation_p.P109T|TOM1_uc011aml.1_Missense_Mutation_p.P109T|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.P103T|TOM1_uc003anr.2_5'UTR NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 109 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CAAGAACAACCCACCCACCAT 0.602 NaN 1 0 4.68919e-08 0.008291 5.24909e-08 8 67 IL17RE 132014 broad.mit.edu 37 3 9956436 9956436 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:9956436C>G uc003btu.2 + 16 1539 c.1422C>G c.(1420-1422)GCC>GCG p.A474A CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Silent_p.A474A|IL17RE_uc003btx.2_Silent_p.A358A|IL17RE_uc010hcq.2_Missense_Mutation_p.P499A|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 474 Helical; (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) TTGTTCTGGCCCTCACCTGCC 0.627 NaN 0 0 0 0.009096 0 3 85 RFTN1 23180 broad.mit.edu 37 3 16450896 16450896 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:16450896C>G uc003cay.2 - 4 709 c.427G>C c.(427-429)GAG>CAG p.E143Q RFTN1_uc010hes.2_Missense_Mutation_p.E107Q NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 143 plasma membrane ovary(3)|central_nervous_system(1) 4 TTAATGAACTCTGGGATGAGT 0.473 NaN 0 0 0 0.016723 0 10 57 ZNF385D 79750 broad.mit.edu 37 3 21552474 21552474 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:21552474C>G uc003cce.2 - 4 726 c.318G>C c.(316-318)AAG>AAC p.K106N ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 106 Matrin-type 1. nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 CTTTGAGCTTCTTGGCATGTT 0.458 NaN 0 0 0 0.013537 0 10 37 XIRP1 165904 broad.mit.edu 37 3 39225689 39225689 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:39225689G>A uc003cjk.1 - 2 5469 c.5248C>T c.(5248-5250)CTG>TTG p.L1750L XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Silent_p.L433L NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1750 Interaction with FLNC. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGTAGCTCCAGAACACTCTTT 0.562 NaN 0 0 0 0.006999 0 35 166 SLC6A20 54716 broad.mit.edu 37 3 45800488 45800488 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:45800488G>A uc011bai.1 - 11 1885 c.1761C>T c.(1759-1761)GAC>GAT p.D587D SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 587 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CGGGGTCTGCGTCTCCCCTCT 0.577 NaN 0 0 0 0.009096 0 4 53 ARL13B 200894 broad.mit.edu 37 3 93714777 93714777 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:93714777G>T uc003drc.2 + 2 405 c.119G>T c.(118-120)GGA>GTA p.G40V ARL13B_uc010hop.2_Nonsense_Mutation_p.E10*|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.G40V|ARL13B_uc003drg.2_Intron NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 40 GTP binding 0 ACAGCAAAGGGAATCCAAGGA 0.289 NaN 1 0 0.000978159 0.010729 0.00103692 8 39 PLCH1 23007 broad.mit.edu 37 3 155215191 155215191 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:155215191C>T uc011bok.1 - 14 2053 c.1776G>A c.(1774-1776)AGG>AGA p.R592R PLCH1_uc011boj.1_Silent_p.R592R|PLCH1_uc011bol.1_Silent_p.R574R NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 592 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCATGGTTTTCCTTCGGCGAC 0.463 NaN 0 0 0 0.006122 0 15 82 MFN1 55669 broad.mit.edu 37 3 179109794 179109794 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:179109794G>C uc003fjs.2 + 18 2299 c.2173G>C c.(2173-2175)GAG>CAG p.E725Q MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.E753Q|MFN1_uc010hxc.2_Missense_Mutation_p.E467Q NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 725 Cytoplasmic (Potential).|Potential. mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ACTTGAAAATGAGCTGGAGAA 0.313 NaN 0 0 0 0.004672 0 3 48 VPS8 23355 broad.mit.edu 37 3 184714261 184714261 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:184714261G>C uc003fpb.1 + 43 3973 c.3802G>C c.(3802-3804)GAA>CAA p.E1268Q VPS8_uc010hyd.1_Missense_Mutation_p.E1178Q|VPS8_uc010hye.1_Missense_Mutation_p.E697Q NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1270 RING-type; atypical. zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GAGACGCCAAGAAATGGCTGA 0.418 NaN 0 0 0 0.009096 0 4 42 MAP3K13 9175 broad.mit.edu 37 3 185200201 185200201 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:185200201C>G uc010hyf.2 + 15 3124 c.2858C>G c.(2857-2859)GCC>GGC p.A953G MAP3K13_uc011brt.1_Missense_Mutation_p.A746G|MAP3K13_uc011bru.1_Missense_Mutation_p.A809G|MAP3K13_uc003fpi.2_Missense_Mutation_p.A953G|MAP3K13_uc010hyg.2_Missense_Mutation_p.A643G NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 953 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGTTCTGATGCCACAGTTAGG 0.433 NaN 0 0 0 0.001168 0 4 245 TNK2 10188 broad.mit.edu 37 3 195610067 195610067 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:195610067G>A uc003fvu.1 - 5 1113 c.570C>T c.(568-570)ATC>ATT p.I190I TNK2_uc003fvs.1_Silent_p.I222I|TNK2_uc003fvt.1_Silent_p.I253I|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.I20I|TNK2_uc010hzx.1_Silent_p.I204I NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 190 Protein kinase. positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CGTAGAGGCGGATGAGGTTTC 0.632 NaN 0 0 0 0.008871 0 17 96 SLC4A4 8671 broad.mit.edu 37 4 72400084 72400084 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:72400084C>T uc003hfy.2 + 18 2538 c.2421C>T c.(2419-2421)AAC>AAT p.N807N SLC4A4_uc010iic.2_Silent_p.N807N|SLC4A4_uc010iib.2_Silent_p.N807N|SLC4A4_uc003hfz.2_Silent_p.N807N|SLC4A4_uc003hgc.3_Silent_p.N763N|SLC4A4_uc010iid.2_Silent_p.N11N NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 807 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGATTGTAAACAGGAAAGAAC 0.383 NaN 0 0 0 0.00308 0 7 47 SLC4A4 8671 broad.mit.edu 37 4 72412136 72412136 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:72412136C>T uc003hfy.2 + 19 2629 c.2512C>T c.(2512-2514)CTT>TTT p.L838F SLC4A4_uc010iic.2_Missense_Mutation_p.L838F|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Missense_Mutation_p.L838F|SLC4A4_uc003hgc.3_Missense_Mutation_p.L794F|SLC4A4_uc010iid.2_Missense_Mutation_p.L42F NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 838 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCTCATGGCTCTTCCGTGGTA 0.463 NaN 0 0 0 0.014323 0 17 104 HERC5 51191 broad.mit.edu 37 4 89385092 89385092 + Silent SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:89385092G>T uc003hrt.2 + 6 1020 c.867G>T c.(865-867)GTG>GTT p.V289V NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 289 RCC1 4. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CCTGTTTGGTGGCTGAGCTTG 0.413 NaN 1 0 3.41278e-10 0.00499 3.95303e-10 15 54 KIAA1109 84162 broad.mit.edu 37 4 123255651 123255651 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:123255651G>C uc003ieh.2 + 67 11844 c.11799G>C c.(11797-11799)CAG>CAC p.Q3933H KIAA1109_uc003iem.2_Intron NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3933 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CCACTGTCCAGAGCAAGACTA 0.408 NaN 0 0 0 0.007835 0 27 100 PHF17 79960 broad.mit.edu 37 4 129778586 129778586 + Nonsense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:129778586G>T uc003igk.2 + 8 1238 c.958G>T c.(958-960)GAG>TAG p.E320* PHF17_uc003igj.2_Nonsense_Mutation_p.E320*|PHF17_uc003igl.2_Nonsense_Mutation_p.E308*|PHF17_uc011cgy.1_Nonsense_Mutation_p.E320*|PHF17_uc003igm.2_Nonsense_Mutation_p.E320* NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 320 PHD-type 2; atypical. apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 CCTCTGCAATGAGAAGTTTGG 0.537 NaN 1 0 2.46787e-29 0.01441 2.92633e-29 43 144 RNF150 57484 broad.mit.edu 37 4 141888843 141888843 + Silent SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:141888843G>T uc003iio.1 - 2 1323 c.669C>A c.(667-669)TCC>TCA p.S223S RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Silent_p.S223S NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 223 Helical; (Potential). integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) GCCATGCGAGGGAAATGATCA 0.423 NaN 1 0 1.99824e-07 0.00499 2.22026e-07 17 92 GRIA2 2891 broad.mit.edu 37 4 158281083 158281083 + Silent SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr4:158281083C>T uc003ipm.3 + 13 2538 c.2079C>T c.(2077-2079)ACC>ACT p.T693T GRIA2_uc011cit.1_Silent_p.T646T|GRIA2_uc003ipl.3_Silent_p.T693T|GRIA2_uc003ipk.3_Silent_p.T646T|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.T3T|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Silent_p.T3T|GRIA2_uc011ciy.1_Silent_p.T3T|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 693 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AAATGTGGACCTACATGCGGA 0.468 NaN 0 0 0 0.001984 0 7 17 RNASEN 29102 broad.mit.edu 37 5 31472255 31472255 + Missense_Mutation SNP A A G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:31472255A>G uc003jhg.2 - 16 2515 c.2156T>C c.(2155-2157)ATT>ACT p.I719T RNASEN_uc003jhh.2_Missense_Mutation_p.I682T|RNASEN_uc003jhi.2_Missense_Mutation_p.I682T NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 719 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 CATATTGGCAATCTCCTCCTC 0.512 NaN 0 0 0 0.006999 0 32 130 FST 10468 broad.mit.edu 37 5 52780943 52780943 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:52780943G>C uc003jpd.2 + 5 865 c.838G>C c.(838-840)GAT>CAT p.D280H FST_uc003jpc.2_Missense_Mutation_p.D280H NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 280 Kazal-like 3. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CAGTAAGTCGGATGAGCCTGT 0.522 NaN 0 0 0 0.015359 0 31 60 ERBB2IP 55914 broad.mit.edu 37 5 65290597 65290597 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:65290597T>C uc003juk.1 + 4 520 c.212T>C c.(211-213)TTA>TCA p.L71S ERBB2IP_uc003juh.1_Missense_Mutation_p.L71S|ERBB2IP_uc003jui.1_Missense_Mutation_p.L71S|ERBB2IP_uc003juj.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqx.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqy.1_Missense_Mutation_p.L71S|ERBB2IP_uc011cqz.1_Missense_Mutation_p.L71S|ERBB2IP_uc010iwx.1_Missense_Mutation_p.L71S|ERBB2IP_uc003jul.1_Missense_Mutation_p.L71S NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 71 LRR 3. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGTCAGTCTTTACACAAACTG 0.333 NaN 0 0 0 0.014758 0 5 7 FNIP1 96459 broad.mit.edu 37 5 130987673 130987673 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:130987673G>C uc003kvs.1 - 16 3270 c.3128C>G c.(3127-3129)CCA>CGA p.P1043R RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.P1015R NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 1043 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTCTGCTATTGGTTCATCCAA 0.363 NaN 0 0 0 0.008291 0 9 52 PCDHGA3 56112 broad.mit.edu 37 5 140723652 140723652 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:140723652G>A uc003ljm.1 + 1 52 c.52G>A c.(52-54)GCG>ACG p.A18T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.A18T NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 18 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCTGTGCGCGCTCCTGGG 0.537 NaN OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 5 227 PCDH1 5097 broad.mit.edu 37 5 141244926 141244926 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:141244926C>T uc003llq.2 - 3 1087 c.970G>A c.(970-972)GAA>AAA p.E324K PCDH1_uc003llp.2_Missense_Mutation_p.E324K|PCDH1_uc011dbf.1_Missense_Mutation_p.E302K NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 324 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCACAACTTCGGGCGCCTGG 0.532 NaN 0 0 0 0.016723 0 13 77 FAT2 2196 broad.mit.edu 37 5 150889707 150889707 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:150889707G>A uc003lue.3 - 21 11947 c.11934C>T c.(11932-11934)TTC>TTT p.F3978F GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.F585F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3978 Extracellular (Potential).|EGF-like 1. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTTCCCAGAGAACTGTGGGG 0.522 NaN 0 0 0 0.01441 0 36 96 HK3 3101 broad.mit.edu 37 5 176308338 176308338 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr5:176308338C>G uc003mfa.2 - 18 2684 c.2592G>C c.(2590-2592)GTG>GTC p.V864V HK3_uc003mez.2_Silent_p.V420V NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 864 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATCCACCCCCACAGACACTG 0.682 NaN 0 0 0 0.007835 0 33 237 FOXF2 2295 broad.mit.edu 37 6 1390493 1390493 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:1390493C>T uc003mtm.2 + 1 425 c.311C>T c.(310-312)TCG>TTG p.S104L FOXF2_uc003mtn.2_Missense_Mutation_p.S104L NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 104 Fork-head. epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CCGCCCTACTCGTACATCGCG 0.517 NaN 0 0 0 0.00308 0 6 23 FAM50B 26240 broad.mit.edu 37 6 3850302 3850302 + Missense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:3850302G>T uc003mvu.2 + 2 369 c.257G>T c.(256-258)CGG>CTG p.R86L NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 86 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) GAGCGCGAGCGGCAGCTGGCC 0.532 NaN 1 0 9.31168e-06 0.016723 1.01582e-05 14 6 KDM1B 221656 broad.mit.edu 37 6 18212781 18212781 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:18212781G>A uc003nco.1 + 11 1395 c.1320G>A c.(1318-1320)TTG>TTA p.L440L KDM1B_uc003ncn.1_Silent_p.L411L|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 643 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 ATCCACCGTTGTCAGAGAAGA 0.403 NaN 0 0 0 0.020292 0 14 142 HLA-E 3133 broad.mit.edu 37 6 30459140 30459140 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:30459140G>C uc003nqg.2 + 4 875 c.837G>C c.(835-837)ACG>ACC p.T279T HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.T320T NM_005516 NP_005507 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 279 Ig-like C1-type.|Alpha-3.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(4)|ovary(1) 5 AGAGATACACGTGCCATGTGC 0.622 NaN 0 0 0 0.004672 0 3 110 C6orf27 80737 broad.mit.edu 37 6 31734367 31734367 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:31734367G>A uc011dog.1 - 14 2295 c.2057C>T c.(2056-2058)TCG>TTG p.S686L C6orf27_uc003nxd.2_Missense_Mutation_p.S361L NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 686 extracellular region ovary(3) 3 GGGCGACAGCGAGGCTGCGAG 0.692 NaN 0 0 0 0.009096 0 3 57 ZNF76 7629 broad.mit.edu 37 6 35262967 35262967 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:35262967C>T uc003oki.1 + 14 1860 c.1655C>T c.(1654-1656)GCG>GTG p.A552V ZNF76_uc003okj.1_Missense_Mutation_p.A497V|DEF6_uc003okk.2_5'Flank|DEF6_uc010jvs.2_5'Flank|DEF6_uc010jvt.2_5'Flank NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 552 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTGGCCACTGCGGCCATGCAG 0.607 NaN 0 0 0 0.004482 0 7 18 C6orf81 221481 broad.mit.edu 37 6 35716570 35716570 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:35716570C>G uc003ola.2 + 6 1054 c.1027C>G c.(1027-1029)CTG>GTG p.L343V C6orf81_uc003olb.1_Missense_Mutation_p.L306V NM_145028 NP_659465 Q5T9G4 CF081_HUMAN hypothetical protein LOC221481 316 ARM 3. binding ovary(1) 1 CATTGTCAGCCTGCAGTATCC 0.532 NaN 0 0 0 0.012213 0 30 85 NFYA 4800 broad.mit.edu 37 6 41051837 41051837 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:41051837C>T uc003opo.2 + 4 393 c.215C>T c.(214-216)TCA>TTA p.S72L NFYA_uc003opp.2_Missense_Mutation_p.S43L|NFYA_uc003opq.2_Missense_Mutation_p.S43L NM_002505 NP_002496 P23511 NFYA_HUMAN nuclear transcription factor Y, alpha isoform 1 72 Gln-rich. transcription from RNA polymerase II promoter CCAAT-binding factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(28;0.0418)|Colorectal(47;0.196) CTAATCACATCAACTGGCCAA 0.453 NaN 0 0 0 0.010729 0 10 58 GSTA1 2938 broad.mit.edu 37 6 52659018 52659018 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:52659018G>C uc003paz.2 - 5 431 c.319C>G c.(319-321)CTC>GTC p.L107V NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 107 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GGCAGAAGGAGGATCATTTCA 0.378 NaN 0 0 0 0.008871 0 20 83 GSTA5 221357 broad.mit.edu 37 6 52701126 52701126 + Missense_Mutation SNP A A C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:52701126A>C uc003pba.1 - 4 250 c.180T>G c.(178-180)ATT>ATG p.I60M NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 60 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) TCATCCCGTCAATCTCAACCA 0.433 NaN 0 0 0 0.016723 0 13 72 TINAG 27283 broad.mit.edu 37 6 54173466 54173466 + Missense_Mutation SNP A A C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:54173466A>C uc003pcj.2 + 1 264 c.118A>C c.(118-120)ACC>CCC p.T40P TINAG_uc003pci.2_Missense_Mutation_p.T40P|TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 40 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TAGGAATCACACCGTTTTGCA 0.398 NaN 0 0 0 0.016522 0 22 46 ENPP1 5167 broad.mit.edu 37 6 132207839 132207839 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:132207839G>A uc011ecf.1 + 24 2602 c.2582G>A c.(2581-2583)AGG>AAG p.R861K NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 861 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTGCCTCACAGGACTGATAAC 0.388 NaN 0 0 0 0.008871 0 16 40 PBOV1 59351 broad.mit.edu 37 6 138539184 138539184 + Missense_Mutation SNP G G C rs67796103 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:138539184G>C uc003qhv.2 - 1 444 c.349C>G c.(349-351)CTA>GTA p.L117V KIAA1244_uc003qhu.2_Intron NM_021635 NP_067648 Q9GZY1 PBOV1_HUMAN prostate and breast cancer overexpressed 1 117 cytoplasm|nucleus 0 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674) TCCAGACCTAGGGTCTGAGTT 0.388 NaN 0 0 0 0.010729 0 9 34 TCP1 6950 broad.mit.edu 37 6 160210477 160210477 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:160210477G>A uc003qsr.2 - 1 259 c.24C>T c.(22-24)TTC>TTT p.F8F TCP1_uc003qss.2_5'UTR|TCP1_uc010kjz.2_Silent_p.F8F|TCP1_uc003qst.2_5'UTR|TCP1_uc010kka.1_RNA|MRPL18_uc010kkb.2_5'Flank|MRPL18_uc003qsw.3_5'Flank NM_030752 NP_110379 P17987 TCPA_HUMAN T-complex protein 1 isoform a 8 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TGCGGTCACCGAACACGGACA 0.677 NaN 0 0 0 0.016723 0 11 59 PDE10A 10846 broad.mit.edu 37 6 165746546 165746546 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:165746546C>T uc003qun.2 - 23 2549 c.2308G>A c.(2308-2310)GTG>ATG p.V770M PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V700M|PDE10A_uc003quo.2_Missense_Mutation_p.V780M NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 770 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TTCTGAGCCACGGATGGGGAT 0.498 NaN 0 0 0 0.004656 0 21 113 MLLT4 4301 broad.mit.edu 37 6 168272964 168272964 + Nonsense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:168272964C>G uc003qwd.2 + 4 624 c.482C>G c.(481-483)TCA>TGA p.S161* MLLT4_uc003qwb.1_Nonsense_Mutation_p.S161*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.S162* NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 162 Potential. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AGAACTCTCTCaaagaaagaa 0.333 NaN T MLL AL 0 0 0 0.00308 0 7 32 TTYH3 80727 broad.mit.edu 37 7 2687635 2687635 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:2687635C>G uc003smp.2 + 5 856 c.669C>G c.(667-669)ATC>ATG p.I223M TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.I52M NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 223 Helical; Name=3; (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) ACGTCATCATCTGCCTCCTGG 0.701 NaN 0 0 0 0.00874 0 31 158 ZDHHC4 55146 broad.mit.edu 37 7 6624725 6624725 + Missense_Mutation SNP G G C rs141408179 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:6624725G>C uc003sqi.2 + 8 933 c.575G>C c.(574-576)AGG>ACG p.R192T ZDHHC4_uc003sql.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R192T|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R192T NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 192 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGGAACATCAGGTACTTCCTC 0.537 NaN 0 0 0 0.003163 0 12 61 SCIN 85477 broad.mit.edu 37 7 12668812 12668812 + Silent SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:12668812C>G uc003ssn.3 + 9 1494 c.1284C>G c.(1282-1284)CTC>CTG p.L428L SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Silent_p.L181L NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 428 Ca(2+)-dependent actin binding.|Gelsolin-like 4. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ACATCATACTCTACACCTATC 0.418 NaN 0 0 0 0.009535 0 24 98 C7orf36 57002 broad.mit.edu 37 7 39612143 39612143 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:39612143G>C uc003thc.3 + 3 528 c.519G>C c.(517-519)AAG>AAC p.K173N NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 173 0 ACTGTAGCAAGAGCCATAGTG 0.393 NaN 0 0 0 0.020292 0 13 100 PSPH 5723 broad.mit.edu 37 7 56082826 56082826 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:56082826C>T uc003trg.2 - 6 823 c.460G>A c.(460-462)GAA>AAA p.E154K PSPH_uc003trh.2_Missense_Mutation_p.E154K|PSPH_uc003tri.2_Missense_Mutation_p.E154K|PSPH_uc003trj.2_Missense_Mutation_p.E183K NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 154 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CCACCAGATTCAGCTGTTGGC 0.363 NaN 0 0 0 0.001984 0 7 37 SEMA3D 223117 broad.mit.edu 37 7 84671545 84671545 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:84671545G>C uc003uic.2 - 8 958 c.918C>G c.(916-918)GCC>GCG p.A306A SEMA3D_uc010led.2_Silent_p.A306A|SEMA3D_uc003uib.2_5'Flank NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 306 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 AAATCAGTCTGGCCTTAAGAA 0.383 NaN 0 0 0 0.01441 0 65 81 PTCD1 26024 broad.mit.edu 37 7 99022928 99022928 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:99022928C>G uc003uqh.2 - 6 1358 c.1227G>C c.(1225-1227)AAG>AAC p.K409N PTCD1_uc011kiw.1_Missense_Mutation_p.K458N NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 409 ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CTGGTTGGGCCTTGCCGGGCA 0.637 NaN 0 0 0 0.006999 0 32 107 ZNF498 221785 broad.mit.edu 37 7 99220228 99220228 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:99220228G>C uc003url.1 + 6 973 c.646G>C c.(646-648)GAG>CAG p.E216Q ZNF498_uc003urm.1_Missense_Mutation_p.E52Q|ZNF498_uc010lge.1_Missense_Mutation_p.E52Q|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_5'UTR NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 216 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CAGAGACCAAGAGATGGCAGC 0.532 NaN 0 0 0 0.007291 0 30 85 ZNF498 221785 broad.mit.edu 37 7 99227017 99227017 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:99227017G>A uc003url.1 + 8 1336 c.1009G>A c.(1009-1011)GAA>AAA p.E337K ZNF498_uc003urm.1_Missense_Mutation_p.E173K|ZNF498_uc010lge.1_Missense_Mutation_p.E173K|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.E265K|ZNF498_uc003uro.1_Missense_Mutation_p.E121K NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 337 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CCTGCCTGACGAAGTCAAAAC 0.632 NaN 0 0 0 0.003163 0 13 32 ZNF498 221785 broad.mit.edu 37 7 99227062 99227062 + Nonsense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:99227062G>T uc003url.1 + 8 1381 c.1054G>T c.(1054-1056)GAG>TAG p.E352* ZNF498_uc003urm.1_Nonsense_Mutation_p.E188*|ZNF498_uc010lge.1_Nonsense_Mutation_p.E188*|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Nonsense_Mutation_p.E280*|ZNF498_uc003uro.1_Nonsense_Mutation_p.E136* NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 352 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CCAGTGCCCTGAGTGTGGGAA 0.587 NaN 1 0 1.5842e-08 0.016723 1.78669e-08 13 44 MUC17 140453 broad.mit.edu 37 7 100684992 100684992 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:100684992C>G uc003uxp.1 + 3 10348 c.10295C>G c.(10294-10296)ACT>AGT p.T3432S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3432 Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats. 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) CTGGTGACCACTTCTACTGAA 0.488 NaN 0 0 0 0.001168 0 4 286 CNTNAP2 26047 broad.mit.edu 37 7 147600711 147600711 + Nonsense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:147600711G>A uc003weu.1 + 14 2669 c.2153G>A c.(2152-2154)TGG>TAG p.W718* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 718 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CACTACTACTGGGGAGGCTCT 0.507 NaN HNSCC(39;0.1) 0 0 0 0.001168 0 4 25 SSPO 23145 broad.mit.edu 37 7 149489422 149489422 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:149489422G>A uc010lpk.2 + 38 5575 c.5575G>A c.(5575-5577)GAG>AAG p.E1859K NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1859 EGF-like 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTGGGCAGCGAGGGGTGGTG 0.687 NaN 0 0 0 0.00308 0 5 9 UBE3C 9690 broad.mit.edu 37 7 157000422 157000422 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr7:157000422G>C uc010lqs.2 + 13 1914 c.1602G>C c.(1600-1602)ATG>ATC p.M534I UBE3C_uc003wng.2_Missense_Mutation_p.M534I NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 534 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AATCATCAATGATGCCTTTTA 0.373 NaN 0 0 0 0.008291 0 8 46 CHRNB3 1142 broad.mit.edu 37 8 42586933 42586933 + Silent SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:42586933G>T uc003xpi.1 + 5 611 c.483G>T c.(481-483)CCG>CCT p.P161P NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 161 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CGTTTTTCCCGTTCGACCGAC 0.488 NaN 1 0 0.00024832 0.009096 0.000267011 3 41 PRKDC 5591 broad.mit.edu 37 8 48846651 48846651 + Splice_Site SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:48846651C>G uc003xqi.2 - 15 1555 c.1498_splice c.e15-1 p.G500_splice PRKDC_uc003xqj.2_Splice_Site_p.G500_splice|PRKDC_uc011ldh.1_Splice_Site_p.G500_splice NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACTCAGGGCCCTGGCCAGAAA 0.473 NaN NHEJ 0 0 0 0.009096 0 3 159 MSC 9242 broad.mit.edu 37 8 72755904 72755904 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:72755904G>A uc003xyx.1 - 1 828 c.510C>T c.(508-510)AAC>AAT p.N170N uc011lff.1_RNA|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 170 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GCACGTAGCCGTTCTCATAGC 0.662 NaN OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.021523 0 22 85 CDH17 1015 broad.mit.edu 37 8 95186397 95186397 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:95186397G>A uc003ygh.2 - 6 641 c.516C>T c.(514-516)CCC>CCT p.P172P CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.P172P NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 172 Extracellular (Potential).|Cadherin 2. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGTTGATCATGGGAAGCTGGA 0.488 NaN 0 0 0 0.00623 0 37 340 RGS22 26166 broad.mit.edu 37 8 101078419 101078419 + Missense_Mutation SNP A A C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:101078419A>C uc003yjb.1 - 7 895 c.700T>G c.(700-702)TCA>GCA p.S234A RGS22_uc003yja.1_Missense_Mutation_p.S53A|RGS22_uc003yjc.1_Missense_Mutation_p.S222A|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 234 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATAGCTGGTGATTTAAGTTTG 0.338 NaN 0 0 0 0.010729 0 10 92 PABPC1 26986 broad.mit.edu 37 8 101721413 101721413 + Silent SNP A A G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:101721413A>G uc003yjs.1 - 9 1788 c.1284T>C c.(1282-1284)ATT>ATC p.I428I PABPC1_uc011lhc.1_Silent_p.I396I|PABPC1_uc011lhd.1_Silent_p.I383I|PABPC1_uc003yjt.1_Silent_p.I425I|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 428 I -> V (in Ref. 1; CAA68428). mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TTAGTTGAGCAATTTGGCTAG 0.393 NaN 0 0 0 0.01441 0 49 280 ZFPM2 23414 broad.mit.edu 37 8 106813404 106813404 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:106813404G>A uc003ymd.2 + 8 1117 c.1094G>A c.(1093-1095)TGT>TAT p.C365Y ZFPM2_uc011lhs.1_Missense_Mutation_p.C96Y|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 365 C2H2-type 3. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCCTTCCGATGTAATCACTGC 0.502 NaN 0 0 0 0.011902 0 41 344 CSMD3 114788 broad.mit.edu 37 8 113358438 113358438 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:113358438C>G uc003ynu.2 - 41 6489 c.6330G>C c.(6328-6330)CAG>CAC p.Q2110H CSMD3_uc003yns.2_Missense_Mutation_p.Q1312H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2070H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2006H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2110 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CACCACCACACTGAGCTGCAA 0.383 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.009096 0 4 81 ZHX2 22882 broad.mit.edu 37 8 123963985 123963985 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:123963985G>C uc003ypk.1 + 3 802 c.235G>C c.(235-237)GAG>CAG p.E79Q NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 79 C2H2-type 1. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGGTGGTTATGAGTGCAAATA 0.483 NaN 0 0 0 0.006214 0 7 94 ADCY8 114 broad.mit.edu 37 8 131848566 131848566 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:131848566C>T uc003ytd.3 - 12 2888 c.2632G>A c.(2632-2634)GCA>ACA p.A878T ADCY8_uc010mds.2_Missense_Mutation_p.A747T NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 878 Helical; (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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAGAGGCCTGCGTAGACGGTC 0.542 NaN HNSCC(32;0.087) 0 0 0 0.01892 0 22 163 CYP11B2 1585 broad.mit.edu 37 8 143993439 143993439 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:143993439C>G uc003yxk.1 - 9 1472 c.1469G>C c.(1468-1470)AGG>ACG p.R490T NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 490 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CGTGCCAGGCCTCAATATGAA 0.562 NaN Familial_Hyperaldosteronism_type_I 0 0 0 0.006122 0 14 147 NFKBIL2 4796 broad.mit.edu 37 8 145665527 145665527 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr8:145665527C>T uc011llg.1 - 11 1372 c.1357G>A c.(1357-1359)GAA>AAA p.E453K NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 453 Glu-rich. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGTCTGGTTTCGGTCTCAGGG 0.522 NaN 0 0 0 0.01441 0 32 112 PTPRD 5789 broad.mit.edu 37 9 8500765 8500765 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:8500765G>C uc003zkk.2 - 23 2828 c.2117C>G c.(2116-2118)ACC>AGC p.T706S PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T706S|PTPRD_uc003zkm.2_Missense_Mutation_p.T693S|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 706 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) ATCTTCATTGGTTCGAATCAA 0.478 NaN TSP Lung(15;0.13) 0 0 0 0.013726 0 29 51 UBAP2 55833 broad.mit.edu 37 9 33941739 33941739 + Missense_Mutation SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:33941739T>C uc003ztq.1 - 16 1950 c.1837A>G c.(1837-1839)ATG>GTG p.M613V UBAP2_uc011loc.1_Missense_Mutation_p.M522V|UBAP2_uc011lod.1_Missense_Mutation_p.M346V|UBAP2_uc011loe.1_Missense_Mutation_p.M368V|UBAP2_uc011lof.1_Missense_Mutation_p.M538V|UBAP2_uc011log.1_Missense_Mutation_p.M559V|UBAP2_uc003ztr.2_Missense_Mutation_p.M485V|UBAP2_uc003zts.2_Missense_Mutation_p.M246V NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 613 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GAGGAAGACATTGCTACTGGA 0.463 NaN 0 0 0 0.001984 0 7 54 ALDH1A1 216 broad.mit.edu 37 9 75526950 75526950 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:75526950C>G uc004ajd.2 - 10 1177 c.1124G>C c.(1123-1125)TGG>TCG p.W375S ALDH1A1_uc011lsh.1_Missense_Mutation_p.W296S|ALDH1A1_uc011lsg.1_Missense_Mutation_p.W201S NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 375 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTTATTCCCCCACGGGCCTCC 0.433 NaN 0 0 0 0.012319 0 18 70 CDC14B 8555 broad.mit.edu 37 9 99327675 99327675 + Missense_Mutation SNP T T A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:99327675T>A uc004awj.2 - 2 703 c.251A>T c.(250-252)AAC>ATC p.N84I CDC14B_uc004awk.2_Missense_Mutation_p.N84I|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.N47I NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 84 A. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) CAATACTTACTTCTCATATTC 0.313 NaN 0 0 0 0.00308 0 7 40 ZNF483 158399 broad.mit.edu 37 9 114296106 114296106 + Nonsense_Mutation SNP G G T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:114296106G>T uc004bff.2 + 4 813 c.589G>T c.(589-591)GAA>TAA p.E197* ZNF483_uc011lwq.1_Nonsense_Mutation_p.E197*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.E197* NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 197 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GCTATATAAGGAAGTGCTACT 0.398 NaN 1 0 0.000673444 0.008291 0.00071643 9 29 GLE1 2733 broad.mit.edu 37 9 131286012 131286012 + Missense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:131286012C>A uc004bvj.2 + 6 898 c.784C>A c.(784-786)CTG>ATG p.L262M GLE1_uc004bvi.2_Missense_Mutation_p.L262M|GLE1_uc010myd.2_Missense_Mutation_p.L8M NM_001003722 NP_001003722 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator homolog isoform 1 262 Potential. poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding 0 CAGCCAGCAGCTGGATGCCTC 0.612 NaN 1 0 1.12685e-05 0.004482 1.22484e-05 8 35 SPTAN1 6709 broad.mit.edu 37 9 131387392 131387392 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:131387392G>A uc004bvl.3 + 46 6101 c.5988G>A c.(5986-5988)GAG>GAA p.E1996E SPTAN1_uc004bvm.3_Silent_p.E2001E|SPTAN1_uc004bvn.3_Silent_p.E1976E|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1996 Spectrin 21. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GTGAAAAGGAGAACAGCTTGA 0.448 NaN 0 0 0 0.004482 0 7 48 TBC1D13 54662 broad.mit.edu 37 9 131553894 131553894 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:131553894G>C uc010myj.2 + 5 345 c.222G>C c.(220-222)CTG>CTC p.L74L TBC1D13_uc010myk.2_Silent_p.L74L|TBC1D13_uc010myl.2_Intron NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 74 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 CCCAGTTCCTGAGGGAAATGA 0.577 NaN 0 0 0 0.003163 0 15 65 PNPLA7 375775 broad.mit.edu 37 9 140354928 140354928 + Nonsense_Mutation SNP C C A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:140354928C>A uc004cnf.2 - 34 4208 c.3871G>T c.(3871-3873)GAG>TAG p.E1291* C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Nonsense_Mutation_p.E538*|PNPLA7_uc004cne.1_Nonsense_Mutation_p.E557*|PNPLA7_uc011mfa.1_Nonsense_Mutation_p.E699*|PNPLA7_uc010ncj.1_Nonsense_Mutation_p.E1316*|NELF_uc011mey.1_5'Flank|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1291 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GACTCGTCCTCCTGCAAGCAG 0.637 NaN 1 0 3.65163e-15 0.00632 4.27925e-15 25 28 PNPLA7 375775 broad.mit.edu 37 9 140437237 140437237 + Missense_Mutation SNP C C T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr9:140437237C>T uc004cnf.2 - 6 785 c.448G>A c.(448-450)GAG>AAG p.E150K PNPLA7_uc010ncj.1_Missense_Mutation_p.E175K NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 150 cNMP 1. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) AGCGGCTTCTCAAAGTGGCCC 0.622 NaN 0 0 0 0.00499 0 12 71 IQSEC2 23096 broad.mit.edu 37 X 53270978 53270978 + Missense_Mutation SNP A A T TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chrX:53270978A>T uc004dsd.2 - 10 3204 c.3003T>A c.(3001-3003)AAT>AAA p.N1001K IQSEC2_uc004dsc.2_Missense_Mutation_p.N796K NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 991 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 CAAGGAGATCATTGAAGAGGA 0.557 NaN 0 0 0 0.008291 0 9 29 HEPH 9843 broad.mit.edu 37 X 65476064 65476064 + Missense_Mutation SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chrX:65476064G>A uc011moz.1 + 17 2857 c.2797G>A c.(2797-2799)GAA>AAA p.E933K HEPH_uc004dwn.2_Missense_Mutation_p.E933K|HEPH_uc004dwo.2_Missense_Mutation_p.E663K|HEPH_uc010nkr.2_Missense_Mutation_p.E741K|HEPH_uc011mpa.1_Missense_Mutation_p.E933K|HEPH_uc010nks.2_Missense_Mutation_p.E222K NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 930 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GATTTTTGATGAAAATAAGTC 0.473 NaN 0 0 0 0.016723 0 13 25 ARMCX1 51309 broad.mit.edu 37 X 100808026 100808026 + Missense_Mutation SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chrX:100808026G>C uc004ehv.2 + 4 484 c.113G>C c.(112-114)TGG>TCG p.W38S ARMCX1_uc004ehw.2_Missense_Mutation_p.W38S NM_016608 NP_057692 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 38 integral to membrane binding ovary(3)|pancreas(1) 4 GAGAAAATCTGGGACGAAGAC 0.567 NaN 0 0 0 0.006214 0 9 26 MORF4L2 9643 broad.mit.edu 37 X 102931203 102931203 + Silent SNP T T C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chrX:102931203T>C uc004ekw.2 - 4 1985 c.753A>G c.(751-753)TTA>TTG p.L251L MORF4L2_uc004ela.2_Silent_p.L251L|MORF4L2_uc004ekx.2_Silent_p.L251L|MORF4L2_uc004elb.2_Silent_p.L251L|MORF4L2_uc004eky.2_Silent_p.L251L|MORF4L2_uc010nos.2_Silent_p.L251L|MORF4L2_uc004ekz.2_Silent_p.L251L|MORF4L2_uc011mry.1_Silent_p.L251L|MORF4L2_uc011mrz.1_Silent_p.L251L|MORF4L2_uc004elc.2_Silent_p.L251L|MORF4L2_uc004elf.2_Silent_p.L251L|MORF4L2_uc004ele.2_Silent_p.L251L|MORF4L2_uc011msa.1_Silent_p.L251L|MORF4L2_uc011msb.1_Silent_p.L251L|MORF4L2_uc011msc.1_Silent_p.L251L|MORF4L2_uc011msd.1_Silent_p.L251L|MORF4L2_uc004eld.2_Silent_p.L251L NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 251 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 AGCCCAACAATAATGCAAGGC 0.423 NaN 0 0 0 0.009096 0 4 32 ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr1:226924876_226924884delCTGCCGCTG uc010pvo.1 - 2 616_624 c.276_284delCAGCGGCAG c.(274-285)AGCAGCGGCAGT>AGT p.92_95SSGS>S ITPKB_uc001hqh.2_In_Frame_Del_p.92_95SSGS>S NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 92_95 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.617 NaN NaN NaN NaN NaN NaN 3 5 --- --- SF1 7536 broad.mit.edu 37 11 64533611 64533631 + Splice_Site DEL GGTGGTAGTCGTCGTATCTGG GGTGGTAGTCGTCGTATCTGG - TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr11:64533611_64533631delGGTGGTAGTCGTCGTATCTGG uc001obb.1 - 13 1960 c.1583_splice c.e13-1 p.N528_splice SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Splice_Site_p.N502_splice|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Splice_Site_p.N528_splice|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 CAGCGCTCGTGGTGGTAGTCGTCGTATCTGGGGTGGTAAAG 0.67 NaN NaN NaN NaN NaN NaN 11 62 --- --- DUSP6 1848 broad.mit.edu 37 12 89743323 89743341 + Splice_Site DEL TTGCCCCGGGCTTCATCTG TTGCCCCGGGCTTCATCTG - TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr12:89743323_89743341delTTGCCCCGGGCTTCATCTG uc001tay.2 - 3 1319 c.839_splice c.e3-1 p.D280_splice DUSP6_uc001taz.2_Splice_Site_p.D134_splice NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 ACCACAGTTCTTGCCCCGGGCTTCATCTGTGAACACAAA 0.425 NaN NaN NaN NaN NaN NaN 14 59 --- --- PCMTD2 55251 broad.mit.edu 37 20 62895852 62895854 + In_Frame_Del DEL CTT CTT - TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr20:62895852_62895854delCTT uc002yil.3 + 3 578_580 c.378_380delCTT c.(376-381)GACTTC>GAC p.F128del PCMTD2_uc002yim.3_In_Frame_Del_p.F128del NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 128 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGAAACTGGACTTCTTCATCAGA 0.355 NaN NaN NaN NaN NaN NaN 8 74 --- --- HHATL 57467 broad.mit.edu 37 3 42740315 42740317 + In_Frame_Del DEL AGC AGC - TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr3:42740315_42740317delAGC uc003clw.2 - 6 513_515 c.366_368delGCT c.(364-369)CTGCTT>CTT p.122_123LL>L HHATL_uc003clx.2_In_Frame_Del_p.122_123LL>L NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 122_123 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) ACAGTGACCAAGCAGCAGCAGCA 0.621 NaN NaN NaN NaN NaN NaN 7 139 --- --- OR2B3 442184 broad.mit.edu 37 6 29054200 29054200 + Frame_Shift_Del DEL G G - TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f730e341-8102-4405-95e2-46a3455a35cc afd71eba-ed7c-408d-94eb-8e606faafc73 g.chr6:29054200delG uc003nlx.2 - 1 891 c.826delC c.(826-828)CTCfs p.L276fs NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 CCATAGAAGAGGGAAACCATC 0.433 NaN NaN NaN NaN NaN NaN 7 35 --- ---