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 PLEKHN1 84069 broad.mit.edu 37 1 909923 909923 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:909923G>C uc001ace.2 + 15 1995 c.1960G>C c.(1960-1962)GAG>CAG p.E654Q PLEKHN1_uc001acd.2_Missense_Mutation_p.E602Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.E567Q NM_032129 NP_115505 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N 654 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGGAGGGCCTGAGGCCAGTGG 0.662 NaN 0 0 0 0.004482 0 9 20 NOL9 79707 broad.mit.edu 37 1 6592664 6592664 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:6592664C>T uc001ans.2 - 8 1413 c.1394G>A c.(1393-1395)AGA>AAA p.R465K NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 465 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) ACGTCGATTTCTCATCTTGGT 0.433 NaN 0 0 0 0.01441 0 46 147 RERE 473 broad.mit.edu 37 1 8418325 8418325 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:8418325G>C uc001ape.2 - 21 5080 c.4270C>G c.(4270-4272)CCG>GCG p.P1424A RERE_uc001apf.2_Missense_Mutation_p.P1424A|RERE_uc001apd.2_Missense_Mutation_p.P870A NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1424 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) tgatggtgCGGAGTCACGTTG 0.438 NaN 0 0 0 0.006214 0 10 34 CLSTN1 22883 broad.mit.edu 37 1 9801223 9801223 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:9801223G>A uc001aqh.2 - 10 2207 c.1448C>T c.(1447-1449)TCT>TTT p.S483F CLSTN1_uc001aqi.2_Missense_Mutation_p.S473F|CLSTN1_uc010oag.1_Missense_Mutation_p.S483F NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 483 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CTCAGTCACAGAGAAGGGCTC 0.552 NaN 0 0 0 0.010504 0 19 79 CASZ1 54897 broad.mit.edu 37 1 10725233 10725233 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:10725233C>G uc001aro.2 - 5 732 c.412G>C c.(412-414)GAG>CAG p.E138Q CASZ1_uc001arp.1_Missense_Mutation_p.E138Q|CASZ1_uc009vmx.2_Missense_Mutation_p.E162Q NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TTGGAGGGCTCCTCCGCGTGG 0.692 NaN 0 0 0 0.001855 0 11 57 MTOR 2475 broad.mit.edu 37 1 11184592 11184592 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:11184592G>C uc001asd.2 - 47 6746 c.6625C>G c.(6625-6627)CTG>GTG p.L2209V MTOR_uc001asc.2_Missense_Mutation_p.L414V NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2209 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TCATTGGCCAGAAGGGTGTTA 0.463 NaN 0 0 0 0.00245 0 15 72 VPS13D 55187 broad.mit.edu 37 1 12333105 12333105 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:12333105C>T uc001atv.2 + 18 2290 c.2149C>T c.(2149-2151)CAG>TAG p.Q717* VPS13D_uc001atw.2_Nonsense_Mutation_p.Q717*|VPS13D_uc001atx.2_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 717 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTCTGCCCCTCAGGTGATATT 0.428 NaN 0 0 0 0.007291 0 27 101 VPS13D 55187 broad.mit.edu 37 1 12333134 12333134 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:12333134C>G uc001atv.2 + 18 2319 c.2178C>G c.(2176-2178)TTC>TTG p.F726L VPS13D_uc001atw.2_Missense_Mutation_p.F726L|VPS13D_uc001atx.2_5'Flank NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 726 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATTTCAAATTCAAGAATCCTG 0.423 NaN 0 0 0 0.008871 0 19 88 PADI2 11240 broad.mit.edu 37 1 17395563 17395563 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:17395563G>A uc001baf.2 - 16 2056 c.1974C>T c.(1972-1974)TTC>TTT p.F658F PADI2_uc010ocm.1_Silent_p.F542F NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 658 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) GCCACCACTTGAAGGTGAAGG 0.592 NaN 0 0 0 0.003755 0 33 117 PADI2 11240 broad.mit.edu 37 1 17395644 17395644 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:17395644G>A uc001baf.2 - 16 1975 c.1893C>T c.(1891-1893)TTC>TTT p.F631F PADI2_uc010ocm.1_Silent_p.F515F NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 631 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) TGTCGTCGATGAAGGTGCATT 0.597 NaN 0 0 0 0.00623 0 38 142 PADI3 51702 broad.mit.edu 37 1 17575710 17575710 + Silent SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:17575710C>A uc001bai.2 + 1 118 c.78C>A c.(76-78)CTC>CTA p.L26L NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 26 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGAGACCCTCGTGGACATTT 0.602 NaN 1 0 6.94344e-10 0.006122 7.10421e-10 17 105 ALPL 249 broad.mit.edu 37 1 21889741 21889741 + Missense_Mutation SNP G G A rs138587317 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:21889741G>A uc001bet.2 + 5 693 c.436G>A c.(436-438)GAG>AAG p.E146K ALPL_uc010odn.1_Missense_Mutation_p.E94K|ALPL_uc010odo.1_Missense_Mutation_p.E91K|ALPL_uc010odp.1_Missense_Mutation_p.E69K|ALPL_uc001beu.3_Missense_Mutation_p.E146K NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 146 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CCAGGGGAACGAGGTCACCTC 0.547 NaN 0 0 0 0.004007 0 17 61 PAFAH2 5051 broad.mit.edu 37 1 26288494 26288494 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:26288494G>C uc001bld.3 - 11 1345 c.1165C>G c.(1165-1167)CTG>GTG p.L389V PAFAH2_uc001ble.3_Missense_Mutation_p.L389V NM_000437 NP_000428 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2 389 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding ovary(2) 2 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) AGGCTGGACAGATGGTGGGGG 0.488 NaN 0 0 0 0.01441 0 83 252 ARID1A 8289 broad.mit.edu 37 1 27106166 27106166 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:27106166G>C uc001bmv.1 + 20 6150 c.5777G>C c.(5776-5778)GGA>GCA p.G1926A ARID1A_uc001bmu.1_Missense_Mutation_p.G1709A|ARID1A_uc001bmx.1_Missense_Mutation_p.G772A|ARID1A_uc009vsm.1_Missense_Mutation_p.G254A|ARID1A_uc009vsn.1_Missense_Mutation_p.G168A NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1926 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) ACCGAGGATGGAGCTAAGAGT 0.542 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 47 143 YTHDF2 51441 broad.mit.edu 37 1 29070328 29070328 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:29070328G>C uc001brc.2 + 4 2043 c.1546G>C c.(1546-1548)GAG>CAG p.E516Q YTHDF2_uc001brd.2_Missense_Mutation_p.E513Q|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466Q|YTHDF2_uc001bre.2_Missense_Mutation_p.E466Q NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 516 YTH. humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CATTCGCCTAGAGAACAACGA 0.478 NaN 0 0 0 0.007291 0 30 58 PTPRU 10076 broad.mit.edu 37 1 29609213 29609213 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:29609213G>A uc001bru.2 + 12 2004 c.1894G>A c.(1894-1896)GAG>AAG p.E632K PTPRU_uc001brv.2_Missense_Mutation_p.E632K|PTPRU_uc001brw.2_Missense_Mutation_p.E632K|PTPRU_uc009vtq.2_Missense_Mutation_p.E632K|PTPRU_uc009vtr.2_Missense_Mutation_p.E632K NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 632 Extracellular (Potential).|Fibronectin type-III 4. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TGTGGAGGAGGAGCGGGCGCG 0.582 NaN 0 0 0 0.008871 0 16 47 YARS 8565 broad.mit.edu 37 1 33245110 33245110 + Missense_Mutation SNP C C T rs147005844 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:33245110C>T uc001bvy.1 - 12 2137 c.1349G>A c.(1348-1350)CGC>CAC p.R450H YARS_uc001bvw.1_Missense_Mutation_p.R110H|YARS_uc001bvx.1_Missense_Mutation_p.R101H NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 450 tRNA-binding. apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTCAACCTGGCGGTTTATCCC 0.557 NaN 0 0 0 0.013726 0 34 83 SFPQ 6421 broad.mit.edu 37 1 35654606 35654606 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:35654606C>G uc001bys.2 - 6 1788 c.1695G>C c.(1693-1695)TTG>TTC p.L565F SFPQ_uc001byr.2_RNA NM_005066 NP_005057 P23246 SFPQ_HUMAN splicing factor proline/glutamine rich 565 alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|protein binding|RNA binding SFPQ/TFE3(6) kidney(4)|soft_tissue(2)|ovary(1)|skin(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) AATTTTACCTCAATTGCATTT 0.229 NaN T TFE3 papillary renal cell 0 0 0 0.004672 0 3 46 MACF1 23499 broad.mit.edu 37 1 39797236 39797236 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:39797236G>C uc010oiu.1 + 1 427 c.296G>C c.(295-297)GGA>GCA p.G99A MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1664 Plectin 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGGCAACTGGAGGTTTCAGT 0.433 NaN 0 0 0 0.010818 0 29 114 KIAA0467 23334 broad.mit.edu 37 1 43893963 43893963 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:43893963G>A uc001cjk.1 + 13 1737 c.1275G>A c.(1273-1275)CTG>CTA p.L425L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1324 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGATTTGCTGACAGCGGTAG 0.547 NaN 0 0 0 0.00278 0 23 74 KIAA0467 23334 broad.mit.edu 37 1 43905293 43905293 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:43905293C>G uc001cjk.1 + 35 4660 c.4198C>G c.(4198-4200)CTA>GTA p.L1400V NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2299 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGCATCACTCTAGCCTTTGT 0.622 NaN 0 0 0 0.00874 0 40 170 CYP4A22 284541 broad.mit.edu 37 1 47614449 47614449 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:47614449G>A uc001cqv.1 + 12 1591 c.1540G>A c.(1540-1542)GAA>AAA p.E514K NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 514 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 TAACCCTTGTGAAGACAAGGA 0.463 NaN 0 0 0 0.000602 0 5 87 CYB5RL 606495 broad.mit.edu 37 1 54644891 54644891 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:54644891G>C uc009vzo.2 - 7 995 c.675C>G c.(673-675)ATC>ATG p.I225M CYB5RL_uc001cww.2_Missense_Mutation_p.I115M|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.I77M NM_001031672 NP_001026842 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 225 cytochrome-b5 reductase activity 0 TTTTCAGGTAGATGCTCTCAA 0.512 NaN 0 0 0 0.001984 0 7 12 C1orf175 374977 broad.mit.edu 37 1 55136238 55136238 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:55136238G>C uc010ooe.1 + 6 1782 c.1458G>C c.(1456-1458)CTG>CTC p.L486L C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L54L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L4L|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L486L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 486 integral to membrane binding 0 TGGAGATCCTGACCCAGCTGA 0.378 NaN 0 0 0 0.008291 0 9 30 HOOK1 51361 broad.mit.edu 37 1 60336747 60336747 + Nonsense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:60336747G>T uc009wad.2 + 22 2083 c.1981G>T c.(1981-1983)GAA>TAA p.E661* HOOK1_uc001czo.2_Nonsense_Mutation_p.E661*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.E619* NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 661 Sufficient for interaction with AKTIP and VPS18. EE->AA: Abrogates interaction with AKTIP, VPS16, VPS18, VPS39 and VPS41, but does not affect interaction with HOOK2 or HOOK3; when associated with 669-A-A-670. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) CCGTGATTATGAAGAAAAACT 0.328 NaN 1 0 3.5997e-14 0.014323 3.71169e-14 19 45 JAK1 3716 broad.mit.edu 37 1 65304176 65304176 + Missense_Mutation SNP T T A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:65304176T>A uc001dbu.1 - 21 3188 c.2939A>T c.(2938-2940)CAG>CTG p.Q980L JAK1_uc009wam.1_Missense_Mutation_p.Q968L|JAK1_uc009wal.1_Missense_Mutation_p.Q157L NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 980 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.E966_K989del(1) haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) ATATTTTAGCTGCTGTTTGAG 0.358 NaN Mis ALL 0 0 0 0.003954 0 23 92 SLC44A5 204962 broad.mit.edu 37 1 75699699 75699699 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:75699699C>T uc001dgu.2 - 12 969 c.825G>A c.(823-825)ATG>ATA p.M275I SLC44A5_uc001dgt.2_Missense_Mutation_p.M275I|SLC44A5_uc001dgs.2_Missense_Mutation_p.M233I|SLC44A5_uc001dgr.2_Missense_Mutation_p.M233I|SLC44A5_uc010oqz.1_Missense_Mutation_p.M314I|SLC44A5_uc010ora.1_Missense_Mutation_p.M269I|SLC44A5_uc010orb.1_Missense_Mutation_p.M145I NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 275 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TCACACCAATCATGAAGACCC 0.373 NaN 0 0 0 0.00874 0 38 134 USP33 23032 broad.mit.edu 37 1 78163603 78163603 + Silent SNP A A G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:78163603A>G uc001dht.2 - 24 2963 c.2616T>C c.(2614-2616)CCT>CCC p.P872P USP33_uc009wca.1_RNA|USP33_uc001dhs.2_Missense_Mutation_p.L559P|USP33_uc001dhu.2_Silent_p.P841P NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 872 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TATTGTCAATAGGACCTGGAG 0.313 NaN 0 0 0 0.01441 0 51 142 LPHN2 23266 broad.mit.edu 37 1 82456494 82456494 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:82456494G>C uc001dit.3 + 21 4058 c.3877G>C c.(3877-3879)GAC>CAC p.D1293H LPHN2_uc001dis.2_Missense_Mutation_p.D273H|LPHN2_uc001diu.2_Missense_Mutation_p.D1293H|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.D920H NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1349 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CGAGGGAACTGACAGCTATGT 0.512 NaN 0 0 0 0.004656 0 28 100 COL24A1 255631 broad.mit.edu 37 1 86554904 86554904 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:86554904G>C uc001dlj.2 - 7 1702 c.1660C>G c.(1660-1662)CAA>GAA p.Q554E COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q554E NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 554 Collagen-like 2. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) GAAAGGCCTTGATCACCCTAT 0.294 NaN 0 0 0 0.00632 0 24 72 CCBL2 56267 broad.mit.edu 37 1 89426873 89426873 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:89426873G>C uc001dmp.2 - 8 1141 c.764C>G c.(763-765)TCT>TGT p.S255C CCBL2_uc001dmq.2_Missense_Mutation_p.S221C|CCBL2_uc001dmr.2_Missense_Mutation_p.S91C NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 255 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTTATTTCCAGAATATACAAG 0.383 NaN 0 0 0 0.008361 0 28 110 LRRC8B 23507 broad.mit.edu 37 1 90049431 90049431 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:90049431G>C uc001dni.2 + 7 1729 c.1222G>C c.(1222-1224)GAG>CAG p.E408Q LRRC8B_uc001dnh.2_Missense_Mutation_p.E408Q|LRRC8B_uc001dnj.2_Missense_Mutation_p.E408Q NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 408 integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) ATGGACAGTTGAGAAACTGAA 0.383 NaN 0 0 0 0.012319 0 22 89 TGFBR3 7049 broad.mit.edu 37 1 92193314 92193314 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:92193314G>C uc001doh.2 - 7 1253 c.787C>G c.(787-789)CTT>GTT p.L263V TGFBR3_uc009wde.2_Missense_Mutation_p.L41V|TGFBR3_uc010osy.1_Missense_Mutation_p.L221V|TGFBR3_uc001doi.2_Missense_Mutation_p.L263V|TGFBR3_uc001doj.2_Missense_Mutation_p.L263V NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 263 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ACCACTTCAAGATCCTCTTGA 0.383 NaN 0 0 0 0.007413 0 18 74 CCDC18 343099 broad.mit.edu 37 1 93649605 93649605 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:93649605C>T uc001dpq.2 + 3 727 c.559C>T c.(559-561)CAG>TAG p.Q187* NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 69 ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TTTGGATGTTCAGCCTAGCCA 0.353 NaN 0 0 0 0.011902 0 43 134 FAM102B 284611 broad.mit.edu 37 1 109103109 109103109 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:109103109C>T uc010ouy.1 + 1 139 c.59C>T c.(58-60)TCA>TTA p.S20L NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 20 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) GAGCTCTCCTCAGTGCCCTTC 0.627 NaN 0 0 0 0.006122 0 18 62 RBM15 64783 broad.mit.edu 37 1 110882500 110882500 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:110882500C>T uc001dzl.1 + 1 556 c.473C>T c.(472-474)TCC>TTC p.S158F RBM15_uc001dzm.1_Missense_Mutation_p.S158F|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 158 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGGCCGCCTCCTCAGCTCCC 0.642 NaN T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 11 53 CHIA 27159 broad.mit.edu 37 1 111854982 111854982 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:111854982C>G uc001eas.2 + 4 329 c.226C>G c.(226-228)CTC>GTC p.L76V CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 76 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TGATGTGACTCTCTACCAAGC 0.443 NaN 0 0 0 0.010771 0 42 116 SLC16A1 6566 broad.mit.edu 37 1 113460506 113460506 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:113460506C>T uc001ecx.2 - 4 1354 c.522G>A c.(520-522)TGG>TGA p.W174* SLC16A1_uc001ecy.2_Nonsense_Mutation_p.W174*|SLC16A1_uc001ecz.2_Nonsense_Mutation_p.W174* NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 174 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AGCTTCCTCTCCATCCAAAGA 0.557 NaN 0 0 0 0.008871 0 21 73 NOTCH2 4853 broad.mit.edu 37 1 120529700 120529700 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:120529700C>G uc001eik.2 - 5 1013 c.757G>C c.(757-759)GAA>CAA p.E253Q NOTCH2_uc001eil.2_Missense_Mutation_p.E253Q|NOTCH2_uc001eim.3_Missense_Mutation_p.E170Q NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 253 EGF-like 6.|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGCTCCCTTCAAAACCTGGT 0.453 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 0.004007 0 17 63 NBPF9 400818 broad.mit.edu 37 1 144619367 144619367 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:144619367G>A uc009wig.1 + 7 590 c.514G>A c.(514-516)GAA>AAA p.E172K NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E172K|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.E103K|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.E103K|NBPF9_uc010oyg.1_Missense_Mutation_p.E137K|NBPF9_uc009wii.1_Intron NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 172 NBPF 1. cytoplasm 0 AGATGAGGATGAAGATGTTCA 0.418 NaN 0 0 0 0.009718 0 34 396 NBPF9 400818 broad.mit.edu 37 1 144619391 144619391 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:144619391G>A uc009wig.1 + 7 614 c.538G>A c.(538-540)GAG>AAG p.E180K NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E180K|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.E111K|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.E111K|NBPF9_uc010oyg.1_Missense_Mutation_p.E145K|NBPF9_uc009wii.1_Intron NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 180 NBPF 1. cytoplasm 0 TGAGGAGGATGAGAAAGTGCA 0.418 NaN 0 0 0 0.01441 0 44 431 NBPF10 100132406 broad.mit.edu 37 1 146399560 146399560 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:146399560G>C uc001emp.3 + 14 2510 c.1312G>C c.(1312-1314)GAT>CAT p.D438H uc010ozk.1_5'UTR NM_017940 NP_060410 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC55672 167 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TATAGAAAATGATGAAGATGA 0.413 NaN 0 0 0 0.007835 0 25 153 CGN 57530 broad.mit.edu 37 1 151498241 151498241 + Nonsense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:151498241G>T uc009wmw.2 + 9 1882 c.1738G>T c.(1738-1740)GAG>TAG p.E580* NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 574 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAAGAACAAGGAGGATCTTAG 0.468 NaN 1 0 1.58986e-06 0.008291 1.61776e-06 10 45 TCHH 7062 broad.mit.edu 37 1 152083887 152083887 + Silent SNP C C T rs115769840 by1000genomes TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:152083887C>T uc001ezp.2 - 2 1806 c.1806G>A c.(1804-1806)CTG>CTA p.L602L TCHH_uc009wne.1_Silent_p.L602L NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 602 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCGCGCTTCAGTCGCTGCT 0.677 NaN 0 0 0 0.012319 0 11 66 FLG2 388698 broad.mit.edu 37 1 152328793 152328793 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:152328793G>A uc001ezw.3 - 3 1542 c.1469C>T c.(1468-1470)TCT>TTT p.S490F uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 490 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAAAGCCAGAGGACTGACC 0.527 NaN 0 0 0 0.01441 0 100 290 SPRR2F 6705 broad.mit.edu 37 1 153085095 153085095 + Missense_Mutation SNP A A G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:153085095A>G uc001fbi.2 - 2 174 c.115T>C c.(115-117)TCA>CCA p.S39P SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron NM_001014450 NP_001014450 Q96RM1 SPR2F_HUMAN small proline-rich protein 2F 39 3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.|3. keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGACACTTTGATGGTGGGCAG 0.632 NaN 0 0 0 0.01441 0 70 282 UBAP2L 9898 broad.mit.edu 37 1 154233401 154233401 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:154233401C>A uc001fep.3 + 23 2779 c.2612C>A c.(2611-2613)TCC>TAC p.S871Y UBAP2L_uc009wot.2_Missense_Mutation_p.S871Y|UBAP2L_uc010pek.1_Missense_Mutation_p.S863Y|UBAP2L_uc010pel.1_Missense_Mutation_p.S881Y|UBAP2L_uc010pen.1_Missense_Mutation_p.S785Y|UBAP2L_uc001feq.2_Missense_Mutation_p.S67Y|UBAP2L_uc001fer.2_Missense_Mutation_p.S67Y NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 871 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGGGATGCCTCCTCCCCAGCC 0.567 NaN 1 0 2.31682e-05 0.003163 2.34717e-05 16 80 THBS3 7059 broad.mit.edu 37 1 155172609 155172609 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:155172609G>A uc001fix.2 - 8 974 c.951C>T c.(949-951)ATC>ATT p.I317I RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.I308I|THBS3_uc001fiz.2_Silent_p.I317I|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.I197I|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 317 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCACCTCATTGATGTCACTGC 0.612 NaN 0 0 0 0.003755 0 34 96 PKLR 5313 broad.mit.edu 37 1 155264172 155264172 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:155264172C>T uc001fkb.3 - 7 1009 c.970G>A c.(970-972)GAT>AAT p.D324N RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.D293N NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 324 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGGATTTCATCAAACCTGAGA 0.562 NaN 0 0 0 0.00499 0 15 51 ASH1L 55870 broad.mit.edu 37 1 155450350 155450350 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:155450350C>G uc009wqq.2 - 3 2791 c.2311G>C c.(2311-2313)GAT>CAT p.D771H ASH1L_uc001fkt.2_Missense_Mutation_p.D771H|ASH1L_uc009wqr.1_Missense_Mutation_p.D771H NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 771 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAGTCATGATCTACAAATGAA 0.383 NaN 0 0 0 0.01441 0 53 179 FCRL5 83416 broad.mit.edu 37 1 157504671 157504671 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:157504671G>A uc001fqu.2 - 8 1572 c.1414C>T c.(1414-1416)CAT>TAT p.H472Y FCRL5_uc009wsm.2_Missense_Mutation_p.H472Y|FCRL5_uc010phv.1_Missense_Mutation_p.H472Y|FCRL5_uc010phw.1_Missense_Mutation_p.H387Y|FCRL5_uc001fqv.1_Missense_Mutation_p.H472Y|FCRL5_uc010phx.1_Missense_Mutation_p.H223Y NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 472 Extracellular (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) AGGACAGGATGAGACACAGGG 0.493 NaN 0 0 0 0.014323 0 22 59 CD1E 913 broad.mit.edu 37 1 158323802 158323802 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:158323802C>G uc001fse.2 + 1 263 c.24C>G c.(22-24)TTC>TTG p.F8L CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Missense_Mutation_p.F8L|CD1E_uc010pif.1_Missense_Mutation_p.F8L|CD1E_uc001fsd.2_Missense_Mutation_p.F8L|CD1E_uc001fsk.2_Missense_Mutation_p.F8L|CD1E_uc001fsj.2_Missense_Mutation_p.F8L|CD1E_uc001fsc.2_Missense_Mutation_p.F8L|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.F8L|CD1E_uc001fsf.2_Missense_Mutation_p.F8L|CD1E_uc001fry.2_Missense_Mutation_p.F8L|CD1E_uc001fsg.2_Missense_Mutation_p.F8L|CD1E_uc001fsh.2_Missense_Mutation_p.F8L|CD1E_uc001fsi.2_Missense_Mutation_p.F8L|CD1E_uc009wsv.2_Missense_Mutation_p.F8L|CD1E_uc001frz.2_Missense_Mutation_p.F8L|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 8 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TCCTCCTCTTCGAGGGTCTCT 0.522 NaN 0 0 0 0.010504 0 17 72 OR10K2 391107 broad.mit.edu 37 1 158390393 158390393 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:158390393C>G uc010pii.1 - 1 264 c.264G>C c.(262-264)CAG>CAC p.Q88H NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TGGTCTTCTTCTGGGACAGCA 0.478 NaN 0 0 0 0.01441 0 60 172 PYHIN1 149628 broad.mit.edu 37 1 158908911 158908911 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:158908911G>C uc001ftb.2 + 4 698 c.453G>C c.(451-453)AGG>AGC p.R151S PYHIN1_uc001fta.3_Missense_Mutation_p.R151S|PYHIN1_uc001ftc.2_Missense_Mutation_p.R142S|PYHIN1_uc001ftd.2_Missense_Mutation_p.R151S|PYHIN1_uc001fte.2_Missense_Mutation_p.R142S NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 151 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) GAACCAAAAGGAGTAAGATGT 0.463 NaN 0 0 0 0.004007 0 16 49 ITLN2 142683 broad.mit.edu 37 1 160914989 160914989 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:160914989C>T uc001fxd.2 - 8 977 c.919G>A c.(919-921)GTT>ATT p.V307I ITLN2_uc009wts.2_Missense_Mutation_p.V306I|ITLN2_uc010pju.1_Missense_Mutation_p.V224I NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN intelectin 2 precursor 307 signal transduction extracellular region receptor binding|sugar binding ovary(1) 1 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTGCTCTTAACGTGAGTTCCA 0.557 NaN 0 0 0 0.007413 0 18 65 ADAMTS4 9507 broad.mit.edu 37 1 161166037 161166037 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:161166037G>A uc001fyt.3 - 3 1442 c.1014C>T c.(1012-1014)GTC>GTT p.V338V ADAMTS4_uc001fyu.2_3'UTR NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 338 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCGGGTCACAGACGGTGCCCA 0.567 NaN 0 0 0 0.00245 0 12 53 BAT2L2 23215 broad.mit.edu 37 1 171509701 171509701 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:171509701G>C uc010pmg.1 + 16 3356 c.3090G>C c.(3088-3090)CAG>CAC p.Q1030H BAT2L2_uc010pmh.1_Missense_Mutation_p.Q7H NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1030 Potential. protein C-terminus binding 0 AACGGGAACAGAGGAAGGAGA 0.433 NaN 0 0 0 0.008291 0 11 43 MYOC 4653 broad.mit.edu 37 1 171621260 171621260 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:171621260C>T uc001ghu.2 - 1 514 c.492G>A c.(490-492)GAG>GAA p.E164E MYOC_uc010pmk.1_Silent_p.E106E NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 164 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGGCCAGATTCTCATTTTCTT 0.562 NaN 0 0 0 0.01441 0 106 414 ZBTB37 84614 broad.mit.edu 37 1 173839997 173839997 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:173839997C>G uc009wwp.1 + 3 910 c.634C>G c.(634-636)CTT>GTT p.L212V GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.L212V|ZBTB37_uc001gjq.3_Missense_Mutation_p.L212V|ZBTB37_uc001gjr.2_Missense_Mutation_p.L212V NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAGCCCATTCTTCGGATCAA 0.532 NaN 0 0 0 0.00245 0 13 67 TOR1AIP1 26092 broad.mit.edu 37 1 179851926 179851926 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:179851926G>A uc001gnq.2 + 1 507 c.289G>A c.(289-291)GAG>AAG p.E97K TOR1AIP1_uc001gnp.1_Missense_Mutation_p.E97K NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 97 Nuclear (Potential). integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 TTCTGCGAAAGAGGAAGTGAG 0.597 NaN 0 0 0 0.003755 0 32 77 XPR1 9213 broad.mit.edu 37 1 180775197 180775197 + Splice_Site SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:180775197G>C uc001goi.2 + 5 640 c.448_splice c.e5-1 p.N150_splice XPR1_uc009wxm.2_Splice_Site_p.N150_splice|XPR1_uc009wxn.2_Splice_Site_p.N150_splice NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor integral to plasma membrane G-protein coupled receptor activity 0 TCTTTCTGTAGAATCTGAATT 0.398 NaN 0 0 0 0.010729 0 11 32 XPR1 9213 broad.mit.edu 37 1 180775240 180775240 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:180775240G>C uc001goi.2 + 5 682 c.490G>C c.(490-492)GAC>CAC p.D164H XPR1_uc009wxm.2_Missense_Mutation_p.D164H|XPR1_uc009wxn.2_Missense_Mutation_p.D164H NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 164 SPX.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 GAAAAAGCATGACAAGATCCT 0.383 NaN 0 0 0 0.012319 0 20 65 LAMC2 3918 broad.mit.edu 37 1 183194782 183194782 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:183194782G>A uc001gqa.2 + 8 1307 c.993G>A c.(991-993)CTG>CTA p.L331L LAMC2_uc001gpz.3_Silent_p.L331L|LAMC2_uc010poa.1_Silent_p.L31L NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 331 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 GCCCCCAGCTGAGTTACTTTG 0.398 NaN 0 0 0 0.01441 0 47 153 HMCN1 83872 broad.mit.edu 37 1 185902803 185902803 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:185902803G>C uc001grq.1 + 11 1904 c.1675G>C c.(1675-1677)GAT>CAT p.D559H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 559 Ig-like C2-type 2. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAATGACAGAGATGTCAGACT 0.448 NaN 0 0 0 0.014323 0 24 54 TPR 7175 broad.mit.edu 37 1 186324879 186324879 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:186324879G>A uc001grv.2 - 16 2207 c.1910C>T c.(1909-1911)TCT>TTT p.S637F NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 637 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGATGCAAGAGAAACATCATC 0.383 NaN T NTRK1 papillary thyroid 0 0 0 0.007291 0 29 102 RGS2 5997 broad.mit.edu 37 1 192780193 192780193 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:192780193C>G uc001gsl.2 + 4 390 c.357C>G c.(355-357)TTC>TTG p.F119L NM_002923 NP_002914 P41220 RGS2_HUMAN regulator of G-protein signaling 2 119 RGS. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity 0 GTGAAGACTTCAAAAAAACCA 0.398 NaN 0 0 0 0.01441 0 49 117 PPP1R12B 4660 broad.mit.edu 37 1 202411574 202411574 + Splice_Site SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:202411574G>A uc001gya.1 + 12 1686 c.1542_splice c.e12-1 p.R514_splice PPP1R12B_uc001gxz.1_Splice_Site_p.R514_splice NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) TGCTTCTACAGAGAATCAGCT 0.443 NaN 0 0 0 0.013537 0 13 43 MYOG 4656 broad.mit.edu 37 1 203054957 203054957 + Missense_Mutation SNP C C T rs150337281 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:203054957C>T uc001gzd.2 - 1 421 c.133G>A c.(133-135)GAG>AAG p.E45K NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 45 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 CCTGGGGCCTCGGGGCTCAGG 0.652 NaN 0 0 0 0.004656 0 27 86 PRELP 5549 broad.mit.edu 37 1 203453266 203453266 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:203453266C>G uc001gzs.2 + 2 1154 c.954C>G c.(952-954)CTC>CTG p.L318L PRELP_uc001gzt.2_Silent_p.L318L NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 318 LRR 10. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) ACCTGTACCTCAACAACAATA 0.562 NaN 0 0 0 0.003163 0 13 55 ATP2B4 493 broad.mit.edu 37 1 203667370 203667370 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:203667370C>G uc001gzw.2 + 3 1163 c.279C>G c.(277-279)TTC>TTG p.F93L ATP2B4_uc001gzv.2_Missense_Mutation_p.F93L|ATP2B4_uc009xaq.2_Missense_Mutation_p.F93L NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 93 Helical; (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCAAGACTTTCTTAGAATTAG 0.502 NaN 0 0 0 0.004656 0 26 83 ATP2B4 493 broad.mit.edu 37 1 203693027 203693027 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:203693027G>C uc001gzw.2 + 19 3927 c.3043G>C c.(3043-3045)GGG>CGG p.G1015R ATP2B4_uc001gzv.2_Missense_Mutation_p.G1015R|ATP2B4_uc009xaq.2_Missense_Mutation_p.G1015R|ATP2B4_uc001gzx.2_Missense_Mutation_p.G46R|ATP2B4_uc009xar.2_Intron NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 1015 Helical; (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CGTGGAATTTGGGGGTAAACC 0.542 NaN 0 0 0 0.004656 0 24 65 PPP1R15B 84919 broad.mit.edu 37 1 204379015 204379015 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:204379015C>G uc001hav.3 - 1 1930 c.1525G>C c.(1525-1527)GAT>CAT p.D509H NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 509 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TTCTCTGAATCAGAAGGCTCT 0.463 NaN 0 0 0 0.00278 0 25 77 PPP1R15B 84919 broad.mit.edu 37 1 204379192 204379192 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:204379192C>T uc001hav.3 - 1 1753 c.1348G>A c.(1348-1350)GAG>AAG p.E450K NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 450 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TCAGCTTCCTCATCCCAATCC 0.458 NaN 0 0 0 0.01441 0 48 218 PPP1R15B 84919 broad.mit.edu 37 1 204379760 204379760 + Silent SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:204379760C>A uc001hav.3 - 1 1185 c.780G>T c.(778-780)CTG>CTT p.L260L NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 260 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) GGTCCTCTCTCAGGCAGCTGC 0.542 NaN 1 0 6.03168e-27 0.004878 6.28921e-27 35 138 LOC642587 642587 broad.mit.edu 37 1 209605571 209605571 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:209605571G>C uc009xcn.2 + 4 569 c.186G>C c.(184-186)AGG>AGC p.R62S LOC642587_uc010psk.1_RNA|MIR205_hsa-mir-205|MI0000285_RNA NM_001104548 NP_001098018 hypothetical protein LOC642587 0 OV - Ovarian serous cystadenocarcinoma(81;0.0422) TGAAGTTCAGGAGGCATGGAG 0.299 NaN 0 0 0 0.001168 0 6 32 SERTAD4 56256 broad.mit.edu 37 1 210411352 210411352 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:210411352C>T uc001hhy.2 + 2 226 c.47C>T c.(46-48)TCG>TTG p.S16L SERTAD4_uc009xcw.2_Missense_Mutation_p.S16L NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 16 protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CCCATTGTCTCGGAAGGAGCT 0.488 NaN 0 0 0 0.005524 0 33 124 FLVCR1 28982 broad.mit.edu 37 1 213032118 213032118 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:213032118C>A uc001hjt.2 + 1 522 c.324C>A c.(322-324)TTC>TTA p.F108L LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank NM_014053 NP_054772 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular 108 Helical; (Potential). cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) CGCGGCGCTTCGTGGTGCTCC 0.657 NaN 1 0 2.31682e-05 0.003163 2.34717e-05 14 27 KCNK2 3776 broad.mit.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:215256745C>G uc001hkq.2 + 1 186 c.17C>G c.(16-18)TCG>TGG p.S6W KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 6 Cytoplasmic (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CCCAGCGCCTCGCGGGAGAGA 0.547 NaN 0 0 0 0.00632 0 25 90 EPRS 2058 broad.mit.edu 37 1 220213549 220213549 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:220213549C>G uc001hly.1 - 2 379 c.109G>C c.(109-111)GAG>CAG p.E37Q EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.E37Q|EPRS_uc009xdt.1_5'UTR NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 37 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AGAATATTCTCTTTCCCTTCT 0.269 NaN 0 0 0 0.00333 0 20 130 HLX 3142 broad.mit.edu 37 1 221053221 221053221 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:221053221C>T uc001hmv.3 + 1 479 c.22C>T c.(22-24)CCC>TCC p.P8S NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 8 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) CGGGCTGGCTCCCTTCTACGC 0.731 NaN 0 0 0 0.000602 0 5 9 C1orf55 163859 broad.mit.edu 37 1 226180638 226180638 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:226180638G>A uc001hpu.3 - 3 357 c.304C>T c.(304-306)CGG>TGG p.R102W C1orf55_uc001hpv.2_Missense_Mutation_p.R102W NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 102 lung(1) 1 Breast(184;0.197) CTGAGATCCCGACAAGCTTCT 0.423 NaN 0 0 0 0.005524 0 31 68 CDC42BPA 8476 broad.mit.edu 37 1 227261667 227261667 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:227261667G>C uc001hqr.2 - 19 3576 c.2633C>G c.(2632-2634)GCT>GGT p.A878G CDC42BPA_uc001hqq.2_Missense_Mutation_p.A142G|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A797G|CDC42BPA_uc009xes.2_Missense_Mutation_p.A878G|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A878G|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A34G|CDC42BPA_uc001hqu.1_Missense_Mutation_p.A34G NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 878 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) CTCCAGTCTAGCTGACATATC 0.368 NaN 0 0 0 0.01441 0 52 154 ARID4B 51742 broad.mit.edu 37 1 235357527 235357527 + Splice_Site SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:235357527C>G uc001hwq.2 - 19 2425 c.1927_splice c.e19-1 p.N643_splice ARID4B_uc001hwr.2_Splice_Site_p.N557_splice|ARID4B_uc001hws.3_Splice_Site_p.N557_splice|ARID4B_uc001hwp.2_Splice_Site|ARID4B_uc001hwt.3_Splice_Site_p.N324_splice NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTAATTTATTCTAGGTTAAGA 0.303 NaN 0 0 0 0.006214 0 10 42 RYR2 6262 broad.mit.edu 37 1 237774219 237774219 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:237774219G>A uc001hyl.1 + 36 4961 c.4841G>A c.(4840-4842)CGC>CAC p.R1614H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1614 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATAAGTGAACGCCAAGGCTGG 0.527 NaN 0 0 0 0.00308 0 8 25 WDR64 128025 broad.mit.edu 37 1 241964444 241964444 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:241964444G>C uc001hzf.1 + 17 1985 c.1832G>C c.(1831-1833)AGA>ACA p.R611T WDR64_uc001hzg.1_Missense_Mutation_p.R524T NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 1058 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GCACCACGAAGAAGAAGTTTG 0.378 NaN 0 0 0 0.012319 0 22 70 CEP170 9859 broad.mit.edu 37 1 243328908 243328908 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr1:243328908G>C uc001hzs.2 - 13 2762 c.2354C>G c.(2353-2355)TCA>TGA p.S785* CEP170_uc001hzt.2_Nonsense_Mutation_p.S687*|CEP170_uc001hzu.2_Nonsense_Mutation_p.S687*|CEP170_uc001hzv.1_Nonsense_Mutation_p.S163* NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 785 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TGGAGGTTGTGATTCTTGTTT 0.398 NaN 0 0 0 0.007413 0 17 133 DIP2C 22982 broad.mit.edu 37 10 395346 395346 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:395346C>G uc001ifp.2 - 25 3124 c.3034G>C c.(3034-3036)GAG>CAG p.E1012Q DIP2C_uc009xhi.1_Missense_Mutation_p.E398Q NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1012 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCGATCTTCTCAGCTCTCTTG 0.622 NaN 0 0 0 0.012319 0 22 83 RBM17 84991 broad.mit.edu 37 10 6143281 6143281 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:6143281G>A uc001ijb.2 + 3 397 c.171G>A c.(169-171)CTG>CTA p.L57L RBM17_uc010qav.1_Silent_p.L57L NM_032905 NP_116294 Q96I25 SPF45_HUMAN RNA binding motif protein 17 57 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding 0 TCATTGACCTGAAGCGAGGTG 0.483 NaN 0 0 0 0.004482 0 9 49 UPF2 26019 broad.mit.edu 37 10 11994206 11994206 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:11994206C>G uc001ila.2 - 14 3367 c.2893G>C c.(2893-2895)GAC>CAC p.D965H UPF2_uc001ilb.2_Missense_Mutation_p.D965H|UPF2_uc001ilc.2_Missense_Mutation_p.D965H|UPF2_uc009xiz.1_Missense_Mutation_p.D965H NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 965 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) AATGGATGGTCTTTTGTCCAA 0.308 NaN 0 0 0 0.012319 0 23 80 MSRB2 22921 broad.mit.edu 37 10 23408326 23408326 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:23408326G>A uc001iro.2 + 4 501 c.390G>A c.(388-390)CTG>CTA p.L130L NM_012228 NP_036360 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 precursor 130 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 L-Methionine(DB00134) CAGGGATCCTGAGACGTCTGG 0.512 NaN 0 0 0 0.00278 0 25 94 ANKRD26 22852 broad.mit.edu 37 10 27323766 27323766 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:27323766C>G uc001ith.2 - 24 3782 c.3610G>C c.(3610-3612)GAA>CAA p.E1204Q ANKRD26_uc001itg.2_Missense_Mutation_p.E891Q|ANKRD26_uc009xku.1_Missense_Mutation_p.E1205Q NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1204 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TACTGTCTTTCTTTTAAGTGA 0.289 NaN 0 0 0 0.003954 0 27 67 ANKRD26 22852 broad.mit.edu 37 10 27323874 27323874 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:27323874C>T uc001ith.2 - 24 3674 c.3502G>A c.(3502-3504)GAC>AAC p.D1168N ANKRD26_uc001itg.2_Missense_Mutation_p.D855N|ANKRD26_uc009xku.1_Missense_Mutation_p.D1169N NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1168 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGAAACTGGTCTTGGATATTA 0.368 NaN 0 0 0 0.01441 0 59 203 ARMC4 55130 broad.mit.edu 37 10 28151455 28151455 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:28151455C>T uc009xky.2 - 18 2805 c.2707G>A c.(2707-2709)GCT>ACT p.A903T ARMC4_uc010qds.1_Missense_Mutation_p.A428T|ARMC4_uc010qdt.1_Missense_Mutation_p.A595T|ARMC4_uc001itz.2_Missense_Mutation_p.A903T NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 903 ARM 7. binding ovary(4)|skin(2) 6 GTAATGGCAGCACATACACTT 0.373 NaN 0 0 0 0.005443 0 29 96 ITGB1 3688 broad.mit.edu 37 10 33200926 33200926 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:33200926G>A uc001iws.3 - 12 1732 c.1596C>T c.(1594-1596)GTC>GTT p.V532V ITGB1_uc001iwp.3_Silent_p.V532V|ITGB1_uc001iwq.3_Silent_p.V532V|ITGB1_uc001iwr.3_Silent_p.V532V|ITGB1_uc001iwt.3_Silent_p.V532V|ITGB1_uc001iwu.1_Silent_p.V532V NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 532 Extracellular (Potential).|Cysteine-rich tandem repeats.|II. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) ACTGTCCGCAGACGCACTCTC 0.398 NaN 0 0 0 0.01441 0 48 129 ITGB1 3688 broad.mit.edu 37 10 33224454 33224454 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:33224454C>T uc001iws.3 - 2 169 c.33G>A c.(31-33)CTG>CTA p.L11L ITGB1_uc001iwp.3_Silent_p.L11L|ITGB1_uc001iwq.3_Silent_p.L11L|ITGB1_uc001iwr.3_Silent_p.L11L|ITGB1_uc001iwt.3_Silent_p.L11L|ITGB1_uc001iwu.1_Silent_p.L11L NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 11 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) CTGAACTGATCAGTCCAATCC 0.294 NaN 0 0 0 0.013537 0 10 60 PHYHIPL 84457 broad.mit.edu 37 10 61005268 61005268 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:61005268G>A uc001jkk.3 + 5 1314 c.1048G>A c.(1048-1050)GGT>AGT p.G350S PHYHIPL_uc001jkl.3_Missense_Mutation_p.G304S|PHYHIPL_uc001jkm.3_Missense_Mutation_p.G324S NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting 350 0 AGAAATCACTGGTCATCAGCT 0.448 NaN 0 0 0 0.007835 0 41 96 RTKN2 219790 broad.mit.edu 37 10 63977986 63977986 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:63977986C>T uc001jlw.2 - 8 953 c.856G>A c.(856-858)GAG>AAG p.E286K RTKN2_uc009xpf.1_Missense_Mutation_p.E67K NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 286 PH. signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) AATGCATCCTCAGCCATACAA 0.393 NaN 0 0 0 0.013537 0 13 78 ZNF365 22891 broad.mit.edu 37 10 64415153 64415153 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:64415153G>A uc001jmd.1 + 4 487 c.153G>A c.(151-153)ATG>ATA p.M51I ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron NM_199452 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform D 51 ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) AGCCACTGATGAAACAGGCTC 0.468 NaN 0 0 0 0.00245 0 11 40 PRF1 5551 broad.mit.edu 37 10 72360406 72360406 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:72360406G>C uc009xqg.2 - 2 414 c.253C>G c.(253-255)CTC>GTC p.L85V PRF1_uc001jrf.3_Missense_Mutation_p.L85V NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 85 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 AGGCGCTGGAGGGTGCCCTCC 0.667 NaN M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.001168 0 3 28 SLC29A3 55315 broad.mit.edu 37 10 73122191 73122191 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:73122191C>T uc001jrr.3 + 6 1311 c.1254C>T c.(1252-1254)CTC>CTT p.L418L SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L272L|SLC29A3_uc001jrt.3_Silent_p.L212L|SLC29A3_uc001jru.3_Silent_p.L230L NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 418 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 CCGCACTCCTCAGCTCCCTGC 0.642 NaN 0 0 0 0.00623 0 35 111 CAMK2G 818 broad.mit.edu 37 10 75574801 75574801 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:75574801G>A uc001jvm.1 - 20 1762 c.1643C>T c.(1642-1644)TCA>TTA p.S548L CAMK2G_uc001jvo.1_Missense_Mutation_p.S519L|CAMK2G_uc001jvq.1_Missense_Mutation_p.S496L|CAMK2G_uc001jvr.1_Missense_Mutation_p.S487L|CAMK2G_uc001jvp.1_Missense_Mutation_p.S510L|CAMK2G_uc001jvs.1_Missense_Mutation_p.S531L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.S488L|CAMK2G_uc009xrp.1_Missense_Mutation_p.S137L NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 550 insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) AGGGGCCCCTGAGCAGTGATA 0.657 NaN 0 0 0 0.010729 0 10 19 CAMK2G 818 broad.mit.edu 37 10 75574821 75574821 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:75574821G>C uc001jvm.1 - 20 1742 c.1623C>G c.(1621-1623)CTC>CTG p.L541L CAMK2G_uc001jvo.1_Silent_p.L512L|CAMK2G_uc001jvq.1_Silent_p.L489L|CAMK2G_uc001jvr.1_Silent_p.L480L|CAMK2G_uc001jvp.1_Silent_p.L503L|CAMK2G_uc001jvs.1_Silent_p.L524L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.L481L|CAMK2G_uc009xrp.1_Silent_p.L130L NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 543 insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) AGTGGACATTGAGCCACTTGC 0.662 NaN 0 0 0 0.00245 0 13 27 LRIT2 340745 broad.mit.edu 37 10 85984808 85984808 + Missense_Mutation SNP T T G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:85984808T>G uc001kcy.2 - 2 181 c.173A>C c.(172-174)AAG>ACG p.K58T LRIT2_uc010qmc.1_Missense_Mutation_p.K58T NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 58 integral to membrane ovary(2) 2 TCTCACTTGCTTGAACTCTTC 0.418 NaN 0 0 0 0.010818 0 30 126 TNKS2 80351 broad.mit.edu 37 10 93572839 93572839 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:93572839C>G uc001khp.2 + 2 596 c.299C>G c.(298-300)TCT>TGT p.S100C NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 100 ANK 2. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AATGCATGCTCTTTTGGTCAT 0.443 NaN 0 0 0 0.003954 0 26 116 KIF11 3832 broad.mit.edu 37 10 94405256 94405256 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:94405256G>A uc001kic.2 + 18 2712 c.2404G>A c.(2404-2406)GAT>AAT p.D802N KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 802 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 GAAACACTCTGATAAACTCAA 0.363 NaN 0 0 0 0.006122 0 17 84 CYP2C19 1557 broad.mit.edu 37 10 96540313 96540313 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:96540313C>T uc010qnz.1 + 4 539 c.539C>T c.(538-540)TCC>TTC p.S180F CYP2C19_uc009xus.1_Missense_Mutation_p.S45F|CYP2C19_uc010qny.1_Missense_Mutation_p.S158F NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 180 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GTGATCTGCTCCATTATTTTC 0.373 NaN 0 0 0 0.01441 0 57 184 LCOR 84458 broad.mit.edu 37 10 98715053 98715053 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:98715053G>A uc001kms.1 + 8 1197 c.676G>A c.(676-678)GAA>AAA p.E226K LCOR_uc001kmr.2_Missense_Mutation_p.E226K|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.E226K|LCOR_uc001kmu.1_Missense_Mutation_p.E226K NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 226 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) TTTTCTTGCAGAAAACTCTGC 0.433 NaN 0 0 0 0.00278 0 23 69 ZFYVE27 118813 broad.mit.edu 37 10 99519006 99519006 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:99519006G>C uc001koo.2 + 13 1385 c.1185G>C c.(1183-1185)CAG>CAC p.Q395H ZFYVE27_uc001kon.2_Missense_Mutation_p.Q400H|ZFYVE27_uc001koq.2_Missense_Mutation_p.Q302H|ZFYVE27_uc010qpa.1_Missense_Mutation_p.Q270H|ZFYVE27_uc001kop.2_Missense_Mutation_p.Q388H|ZFYVE27_uc010qpb.1_Missense_Mutation_p.Q295H|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Missense_Mutation_p.Q356H|ZFYVE27_uc001kol.1_Missense_Mutation_p.Q395H|ZFYVE27_uc001kom.1_Missense_Mutation_p.Q388H NM_144588 NP_653189 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 isoform 395 Extracellular (Potential).|FYVE-type. cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) CTGAAGCCCAGAGGGAGACTG 0.557 NaN OREG0020422 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 8 85 FGF8 2253 broad.mit.edu 37 10 103531253 103531253 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:103531253G>C uc001ktp.1 - 5 548 c.378C>G c.(376-378)ATC>ATG p.I126M FGF8_uc001ktq.1_Missense_Mutation_p.I137M|FGF8_uc001ktr.1_Missense_Mutation_p.I108M|FGF8_uc001kts.1_Missense_Mutation_p.I97M|FGF8_uc009xwr.1_Missense_Mutation_p.I33M NM_033164 NP_149354 P55075 FGF8_HUMAN fibroblast growth factor 8 isoform E precursor 126 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TGTTCATGCAGATGTAGAGGC 0.607 NaN 0 0 0 0.00499 0 15 69 NT5C2 22978 broad.mit.edu 37 10 104857052 104857052 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:104857052G>A uc001kwo.2 - 11 953 c.767C>T c.(766-768)ACA>ATA p.T256I NT5C2_uc010qqp.1_Missense_Mutation_p.T227I|NT5C2_uc001kwq.2_Missense_Mutation_p.T256I|NT5C2_uc001kwp.2_Missense_Mutation_p.T103I NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 256 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ACTTACATCTGTATATTTATA 0.348 NaN 0 0 0 0.007413 0 19 99 C10orf79 80217 broad.mit.edu 37 10 105903397 105903397 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:105903397C>T uc001kxw.2 - 32 4061 c.3945G>A c.(3943-3945)AGG>AGA p.R1315R C10orf79_uc009xxq.2_Silent_p.R594R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1315 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) GTTTGGAAATCCTGGTATTAC 0.418 NaN 0 0 0 0.004672 0 3 27 TDRD1 56165 broad.mit.edu 37 10 115985891 115985891 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:115985891G>A uc001lbg.1 + 22 3244 c.3091G>A c.(3091-3093)GAA>AAA p.E1031K TDRD1_uc001lbf.2_Missense_Mutation_p.E908K|TDRD1_uc001lbh.1_Missense_Mutation_p.E1018K|TDRD1_uc001lbi.1_Missense_Mutation_p.E1022K|TDRD1_uc010qsc.1_Missense_Mutation_p.E635K|TDRD1_uc001lbj.2_Missense_Mutation_p.E740K NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1031 Tudor 4. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGGAAACATTGAAACCCTGCC 0.438 NaN 0 0 0 0.008361 0 28 67 TRUB1 142940 broad.mit.edu 37 10 116702491 116702491 + Missense_Mutation SNP G G A rs143607039 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:116702491G>A uc001lcd.2 + 2 435 c.374G>A c.(373-375)CGA>CAA p.R125Q TRUB1_uc010qsl.1_Missense_Mutation_p.R27Q NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 125 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) AGCGCAGCCCGAGGAGTTCTG 0.438 NaN 0 0 0 0.003163 0 13 52 EIF3A 8661 broad.mit.edu 37 10 120809348 120809348 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:120809348C>G uc001ldu.2 - 17 2769 c.2623G>C c.(2623-2625)GAG>CAG p.E875Q EIF3A_uc010qsu.1_Missense_Mutation_p.E841Q|EIF3A_uc009xzg.1_5'UTR NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 875 Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AGTCTTCTCTCTTCCTCTCTA 0.358 NaN 0 0 0 0.01441 0 81 227 PLEKHA1 59338 broad.mit.edu 37 10 124152833 124152833 + Silent SNP C C T rs142005373 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:124152833C>T uc001lge.1 + 2 240 c.117C>T c.(115-117)TTC>TTT p.F39F PLEKHA1_uc001lgf.1_Silent_p.F39F|PLEKHA1_uc001lgg.1_Silent_p.F39F|PLEKHA1_uc001lgh.2_Silent_p.F39F NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 39 PH 1. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AAGATAGTTTCGTGTGGTACA 0.343 NaN 0 0 0 0.014323 0 22 73 DMBT1 1755 broad.mit.edu 37 10 124358515 124358515 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:124358515G>T uc001lgk.1 + 26 3288 c.3182G>T c.(3181-3183)CGC>CTC p.R1061L DMBT1_uc001lgl.1_Missense_Mutation_p.R1051L|DMBT1_uc001lgm.1_Missense_Mutation_p.R562L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1061L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R22L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1061 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GATGATGTGCGCTGCTCAGGA 0.592 NaN 1 0 1.51926e-22 0.01441 1.57703e-22 51 151 DMBT1 1755 broad.mit.edu 37 10 124358521 124358521 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:124358521C>G uc001lgk.1 + 26 3294 c.3188C>G c.(3187-3189)TCA>TGA p.S1063* DMBT1_uc001lgl.1_Nonsense_Mutation_p.S1053*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.S564*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.S1063*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.S24* NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1063 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTGCGCTGCTCAGGACACGAG 0.607 NaN 0 0 0 0.007835 0 43 146 C10orf137 26098 broad.mit.edu 37 10 127429114 127429114 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:127429114G>A uc001liq.1 + 16 2357 c.2064G>A c.(2062-2064)CTG>CTA p.L688L C10orf137_uc001lin.2_Silent_p.L654L|C10orf137_uc001lio.1_Silent_p.L654L|C10orf137_uc001lip.1_Silent_p.L392L|C10orf137_uc001lir.2_Silent_p.L182L|C10orf137_uc001lis.1_Silent_p.L14L NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 688 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AACTTCAGCTGATTCTCAAGT 0.413 NaN 0 0 0 0.008871 0 21 92 LRDD 55367 broad.mit.edu 37 11 804358 804358 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:804358C>G uc001lro.1 - 2 173 c.31G>C c.(31-33)GAG>CAG p.E11Q LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Missense_Mutation_p.E11Q|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 11 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCTGCCTCCAGCTCTGGC 0.687 NaN 0 0 0 0.001855 0 8 22 IGF2 3481 broad.mit.edu 37 11 2154279 2154279 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:2154279G>C uc009yde.2 - 4 584 c.481C>G c.(481-483)CTA>GTA p.L161V IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.L161V|IGF2_uc009ydf.2_Missense_Mutation_p.L217V|IGF2_uc001lvh.2_Missense_Mutation_p.L161V|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 161 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) TGGGTGGGTAGAGCAATCAGG 0.692 NaN 0 0 0 0.005443 0 25 98 OR10A5 144124 broad.mit.edu 37 11 6867346 6867346 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:6867346C>G uc001met.1 + 1 433 c.433C>G c.(433-435)CTG>GTG p.L145V NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACGGGCCAAACTGGCTGCTGC 0.527 NaN 0 0 0 0.01441 0 34 174 NLRP10 338322 broad.mit.edu 37 11 7981789 7981789 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:7981789G>A uc001mfv.1 - 2 1387 c.1370C>T c.(1369-1371)GCC>GTC p.A457V NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 457 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTTCTTGATGGCAAGTCCCAA 0.493 NaN 0 0 0 0.010771 0 43 170 USP47 55031 broad.mit.edu 37 11 11942014 11942014 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:11942014G>A uc001mjq.1 + 11 2014 c.1251G>A c.(1249-1251)ATG>ATA p.M417I USP47_uc001mjr.2_Missense_Mutation_p.M329I|USP47_uc001mjs.2_Missense_Mutation_p.M397I NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 417 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) AACTAGATATGAGTACTTTTA 0.318 NaN 0 0 0 0.013726 0 32 86 ZNF408 79797 broad.mit.edu 37 11 46727044 46727044 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:46727044C>G uc001nde.1 + 5 2024 c.1794C>G c.(1792-1794)CTC>CTG p.L598L ZNF408_uc010rgw.1_Silent_p.L590L NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN zinc finger protein 408 598 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding 0 GGCGCCACCTCAAATCTCACT 0.667 NaN 0 0 0 0.00499 0 18 50 FNBP4 23360 broad.mit.edu 37 11 47752962 47752962 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:47752962C>G uc009ylv.2 - 12 2125 c.1972G>C c.(1972-1974)GAT>CAT p.D658H FNBP4_uc001ngj.2_Missense_Mutation_p.D565H|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 658 ovary(1) 1 GAATTTGAATCAGTGCCAGTT 0.373 NaN 0 0 0 0.01441 0 51 136 FNBP4 23360 broad.mit.edu 37 11 47753046 47753046 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:47753046C>T uc009ylv.2 - 12 2041 c.1888G>A c.(1888-1890)GAA>AAA p.E630K FNBP4_uc001ngj.2_Missense_Mutation_p.E537K|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 630 Poly-Glu. ovary(1) 1 TCTTCCTCTTCACCATCTGGA 0.393 NaN 0 0 0 0.013114 0 46 163 NUP160 23279 broad.mit.edu 37 11 47858484 47858484 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:47858484G>A uc001ngm.2 - 6 982 c.897C>T c.(895-897)ATC>ATT p.I299I NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 299 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 ACAAAGCAAAGATGAAGGCAT 0.408 NaN 0 0 0 0.006122 0 19 95 OR5L2 26338 broad.mit.edu 37 11 55594852 55594852 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:55594852C>T uc001nhy.1 + 1 158 c.158C>T c.(157-159)TCT>TTT p.S53F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CAGGTCAGCTCTCGGCTCCAC 0.478 NaN HNSCC(27;0.073) 0 0 0 0.01441 0 99 289 OR5AK2 390181 broad.mit.edu 37 11 56757051 56757051 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:56757051C>T uc010rjp.1 + 1 663 c.663C>T c.(661-663)ATC>ATT p.I221I NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 ACATCTACATCATGGCCACCA 0.438 NaN 0 0 0 0.01441 0 53 196 PRG2 5553 broad.mit.edu 37 11 57156683 57156683 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:57156683C>T uc001njz.2 - 2 193 c.166G>A c.(166-168)GAA>AAA p.E56K PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.E56K|PRG2_uc001nkb.2_Missense_Mutation_p.E56K|PRG2_uc001nkd.2_Missense_Mutation_p.E56K|PRG2_uc001nkc.2_Missense_Mutation_p.E56K|PRG2_uc001nke.2_Missense_Mutation_p.E336K NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 56 defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 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) Sargramostim(DB00020) TCCTCCTCTTCCTCCAGCTCC 0.547 NaN 0 0 0 0.003954 0 27 82 GLYATL1 92292 broad.mit.edu 37 11 58723268 58723268 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:58723268C>T uc001nnf.2 + 8 1053 c.677C>T c.(676-678)TCT>TTT p.S226F uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.S257F|GLYATL1_uc001nni.1_Missense_Mutation_p.S226F|GLYATL1_uc001nnj.1_Missense_Mutation_p.S226F Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 226 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) ATGGACCCTTCTTGTGAAGTA 0.517 NaN 0 0 0 0.008871 0 20 44 CCDC86 79080 broad.mit.edu 37 11 60610305 60610305 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:60610305G>A uc001nqa.2 + 1 877 c.708G>A c.(706-708)CCG>CCA p.P236P CCDC86_uc001nqb.2_5'UTR NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 236 interspecies interaction between organisms nucleus 0 CTGTAATCCCGAAGGGGAAGC 0.567 NaN 0 0 0 0.008291 0 9 35 FADS3 3995 broad.mit.edu 37 11 61644427 61644427 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:61644427G>C uc001nsm.2 - 8 1047 c.894C>G c.(892-894)CTC>CTG p.L298L FADS3_uc001nsn.2_Silent_p.L174L NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 298 Lumenal (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 TGGCGGCCCAGAGCAAATCCT 0.557 NaN 0 0 0 0.004672 0 3 10 AHNAK 79026 broad.mit.edu 37 11 62288785 62288785 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:62288785G>C uc001ntl.2 - 5 13404 c.13104C>G c.(13102-13104)CTC>CTG p.L4368L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4368 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTGGACCCTTGAGTTTTGCAT 0.468 NaN 0 0 0 0.01441 0 55 202 B3GAT3 26229 broad.mit.edu 37 11 62384199 62384199 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:62384199G>C uc001ntw.2 - 4 717 c.688C>G c.(688-690)CAG>GAG p.Q230E B3GAT3_uc009ynz.2_Missense_Mutation_p.Q223E|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.Q230E NM_012200 NP_036332 O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 230 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding 0 TCCTGTACCTGAGGGCCCTCG 0.647 NaN 0 0 0 0.00308 0 7 21 MAP4K2 5871 broad.mit.edu 37 11 64564578 64564578 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:64564578C>T uc001obh.2 - 19 1455 c.1363G>A c.(1363-1365)GAG>AAG p.E455K MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Missense_Mutation_p.E447K NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 455 activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 CCTCTTACCTCAGGATCCTCC 0.657 NaN 0 0 0 0.008291 0 9 62 FAM89B 23625 broad.mit.edu 37 11 65340999 65340999 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:65340999G>A uc001oem.2 + 2 739 c.418G>A c.(418-420)GAC>AAC p.D140N FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Missense_Mutation_p.D153N|EHBP1L1_uc001oeo.3_5'Flank NM_152832 NP_690045 Q8N5H3 FA89B_HUMAN family with sequence similarity 89, member B 140 0 CCTGTCTGACGACGAGGAGCC 0.632 NaN 0 0 0 0.012319 0 18 49 FAM89B 23625 broad.mit.edu 37 11 65341111 65341111 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:65341111G>A uc001oem.2 + 2 851 c.530G>A c.(529-531)TGA>TAA p.*177* FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Silent_p.*190*|EHBP1L1_uc001oeo.3_5'Flank NM_152832 NP_690045 Q8N5H3 FA89B_HUMAN family with sequence similarity 89, member B 177 0 ATCAGCCTCTGAAGGGCTGGG 0.662 NaN 0 0 0 0.010729 0 6 45 PACS1 55690 broad.mit.edu 37 11 65983668 65983668 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:65983668G>C uc001oha.1 + 5 873 c.739G>C c.(739-741)GAA>CAA p.E247Q PACS1_uc001ogz.1_Missense_Mutation_p.E247Q NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 247 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 GCCTGTGGCAGAAATAAAGAT 0.517 NaN 0 0 0 0.003954 0 24 69 SPTBN2 6712 broad.mit.edu 37 11 66460711 66460711 + Silent SNP C C T rs146007976 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:66460711C>T uc001ojd.2 - 23 4872 c.4800G>A c.(4798-4800)GCG>GCA p.A1600A NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1600 Spectrin 13. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCCAGGCCTCCGCCTCGGCGG 0.622 NaN 0 0 0 0.013726 0 34 101 CLCF1 23529 broad.mit.edu 37 11 67133035 67133035 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:67133035G>C uc001okq.2 - 3 446 c.250C>G c.(250-252)CTG>GTG p.L84V LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.L74V NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 84 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) GCCCTGGGCAGAGTCTCTGCC 0.587 NaN 0 0 0 0.013726 0 33 112 PPP1CA 5499 broad.mit.edu 37 11 67166318 67166318 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:67166318C>T uc001okw.1 - 6 880 c.757G>A c.(757-759)GAC>AAC p.D253N PPP1CA_uc009yro.1_Missense_Mutation_p.D71N|PPP1CA_uc001okt.1_Missense_Mutation_p.D258N|PPP1CA_uc001oku.1_Missense_Mutation_p.D264N|PPP1CA_uc001okv.1_Missense_Mutation_p.D209N|PPP1CA_uc001okx.1_Missense_Mutation_p.D341N|PPP1CA_uc001oky.2_Missense_Mutation_p.D253N NM_002708 NP_002699 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha 253 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TCGTAGCCGTCTTCTACCACC 0.627 NaN 0 0 0 0.00623 0 33 84 PPP1CA 5499 broad.mit.edu 37 11 67166321 67166321 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:67166321C>T uc001okw.1 - 6 877 c.754G>A c.(754-756)GAA>AAA p.E252K PPP1CA_uc009yro.1_Missense_Mutation_p.E70K|PPP1CA_uc001okt.1_Missense_Mutation_p.E257K|PPP1CA_uc001oku.1_Missense_Mutation_p.E263K|PPP1CA_uc001okv.1_Missense_Mutation_p.E208K|PPP1CA_uc001okx.1_Missense_Mutation_p.E340K|PPP1CA_uc001oky.2_Missense_Mutation_p.E252K NM_002708 NP_002699 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha 252 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TAGCCGTCTTCTACCACCTGG 0.627 NaN 0 0 0 0.00623 0 34 85 PPP1CA 5499 broad.mit.edu 37 11 67166578 67166578 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:67166578C>T uc001okw.1 - 5 703 c.580G>A c.(580-582)GAT>AAT p.D194N PPP1CA_uc009yro.1_Missense_Mutation_p.D12N|PPP1CA_uc001okt.1_Missense_Mutation_p.D199N|PPP1CA_uc001oku.1_Missense_Mutation_p.D205N|PPP1CA_uc001okv.1_Missense_Mutation_p.D150N|PPP1CA_uc001okx.1_Missense_Mutation_p.D282N|PPP1CA_uc001oky.2_Missense_Mutation_p.D194N NM_002708 NP_002699 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha 194 cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TCAGGCACATCTGTGGGCCGC 0.622 NaN 0 0 0 0.005443 0 26 79 TBC1D10C 374403 broad.mit.edu 37 11 67172956 67172956 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:67172956G>A uc001ola.2 + 4 368 c.339G>A c.(337-339)AAG>AAA p.K113K PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Silent_p.K113K|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 113 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGTGCCAGAAGAACAGCCCTG 0.647 NaN 0 0 0 0.006122 0 17 53 ALDH3B1 221 broad.mit.edu 37 11 67787235 67787235 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:67787235G>C uc010rpy.1 + 7 648 c.532G>C c.(532-534)GAG>CAG p.E178Q ALDH3B1_uc001omz.2_Missense_Mutation_p.E178Q|ALDH3B1_uc001ona.2_Missense_Mutation_p.E141Q|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 178 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) GCAGCTGCTAGAGCACAGGTT 0.652 NaN 0 0 0 0.010818 0 25 100 FADD 8772 broad.mit.edu 37 11 70049613 70049613 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:70049613G>A uc001opm.2 + 1 345 c.48G>A c.(46-48)TCG>TCA p.S16S NM_003824 NP_003815 Q13158 FADD_HUMAN Fas-associated via death domain 16 DED. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|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|signal transduction cytosol death receptor binding|identical protein binding ovary(1)|lung(1)|pancreas(1) 3 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CCAGCCTGTCGAGCAGCGAGC 0.697 NaN 0 0 0 0.009096 0 4 14 FADD 8772 broad.mit.edu 37 11 70049620 70049620 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:70049620G>A uc001opm.2 + 1 352 c.55G>A c.(55-57)GAG>AAG p.E19K NM_003824 NP_003815 Q13158 FADD_HUMAN Fas-associated via death domain 19 DED. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|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|signal transduction cytosol death receptor binding|identical protein binding ovary(1)|lung(1)|pancreas(1) 3 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GTCGAGCAGCGAGCTGACCGA 0.692 NaN 0 0 0 0.000602 0 5 15 C11orf82 220042 broad.mit.edu 37 11 82643575 82643575 + Missense_Mutation SNP G G C rs149497860 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:82643575G>C uc001ozt.2 + 6 1439 c.1195G>C c.(1195-1197)GAA>CAA p.E399Q C11orf82_uc010rsr.1_Missense_Mutation_p.E98Q|C11orf82_uc010rss.1_Missense_Mutation_p.E98Q|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 399 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 ACTCAGACTTGAAGAGACAGC 0.468 NaN 0 0 0 0.01441 0 70 221 ME3 10873 broad.mit.edu 37 11 86160971 86160971 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:86160971C>T uc001pbz.2 - 9 1345 c.1091G>A c.(1090-1092)AGA>AAA p.R364K ME3_uc001pca.2_Missense_Mutation_p.R364K|ME3_uc009yvk.2_Missense_Mutation_p.R364K|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 364 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CCAGATCTTTCTTGTGGCCTC 0.522 NaN 0 0 0 0.01441 0 48 145 PIWIL4 143689 broad.mit.edu 37 11 94335120 94335120 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:94335120G>A uc001pfa.2 + 12 1751 c.1540G>A c.(1540-1542)GGA>AGA p.G514R PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 514 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGTTCCATGGGATTTAATGT 0.378 NaN 0 0 0 0.00632 0 28 119 YAP1 10413 broad.mit.edu 37 11 102100669 102100669 + Nonstop_Mutation SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:102100669T>C uc001pgt.2 + 9 1883 c.1513T>C c.(1513-1515)TAG>CAG p.*505Q YAP1_uc001pgs.2_Nonstop_Mutation_p.*455Q|YAP1_uc001pgu.2_Nonstop_Mutation_p.*489Q|YAP1_uc001pgv.2_Nonstop_Mutation_p.*451Q|YAP1_uc010ruo.1_Nonstop_Mutation_p.*327Q|YAP1_uc001pgw.2_Nonstop_Mutation_p.*329Q|YAP1_uc010rup.1_Nonstop_Mutation_p.*270Q NM_001130145 NP_001123617 P46937 YAP1_HUMAN Yes-associated protein 1, 65kDa isoform 1 505 cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) TACATGGTTATAGAGCCCTCA 0.433 NaN 0 0 0 0.01441 0 53 116 GRIA4 2893 broad.mit.edu 37 11 105789548 105789548 + Missense_Mutation SNP C C G rs145685023 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:105789548C>G uc001pix.2 + 11 1826 c.1380C>G c.(1378-1380)ATC>ATG p.I460M GRIA4_uc001piw.2_Missense_Mutation_p.I460M NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 460 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATATTGGTATCAAGTATAAAA 0.353 NaN 0 0 0 0.007413 0 20 53 ATM 472 broad.mit.edu 37 11 108160459 108160459 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:108160459G>A uc001pkb.1 + 29 4752 c.4367G>A c.(4366-4368)GGC>GAC p.G1456D ATM_uc009yxr.1_Missense_Mutation_p.G1456D|ATM_uc001pkd.3_Missense_Mutation_p.G108D|ATM_uc001pke.1_Missense_Mutation_p.G108D|ATM_uc010rvw.1_Missense_Mutation_p.G108D|ATM_uc001pkf.2_Missense_Mutation_p.G108D NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1456 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) ATAAAAAGTGGCTTAGGAGGA 0.313 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 0.004007 0 16 62 PPP2R1B 5519 broad.mit.edu 37 11 111636995 111636995 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:111636995C>T uc001plx.1 - 1 175 c.91G>A c.(91-93)GAG>AAG p.E31K PPP2R1B_uc001plw.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwi.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.E31K|PPP2R1B_uc010rwl.1_Missense_Mutation_p.E31K NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 31 HEAT 1. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TTGCGGAGCTCGTCGATTAAA 0.637 NaN 0 0 0 0.00245 0 14 69 USP28 57646 broad.mit.edu 37 11 113697974 113697974 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:113697974G>A uc001poh.2 - 11 1201 c.1168C>T c.(1168-1170)CAG>TAG p.Q390* USP28_uc001pog.2_Nonsense_Mutation_p.Q98*|USP28_uc010rwy.1_Nonsense_Mutation_p.Q265*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.Q390* NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 390 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TAAATAATCTGAGGAAATTCC 0.363 NaN 0 0 0 0.00245 0 14 70 MLL 4297 broad.mit.edu 37 11 118361911 118361911 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:118361911G>A uc001pta.2 + 14 4720 c.4697G>A c.(4696-4698)GGA>GAA p.G1566E MLL_uc001ptb.2_Missense_Mutation_p.G1566E|MLL_uc001pte.1_RNA NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1566 PHD-type 3. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TTGCTTTCAGGAAACTTCTGC 0.418 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.013537 0 13 69 OR8B8 26493 broad.mit.edu 37 11 124310898 124310898 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:124310898G>A uc010sal.1 - 1 84 c.84C>T c.(82-84)TTC>TTT p.F28F NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GAAACAGGAAGAAGAGGGGGA 0.502 NaN 0 0 0 0.001855 0 13 77 PANX3 116337 broad.mit.edu 37 11 124482954 124482954 + Nonsense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:124482954C>A uc001qah.2 + 2 260 c.260C>A c.(259-261)TCA>TAA p.S87* NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 87 Extracellular (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TGCTGGGACTCACTGCTTCAC 0.557 NaN 1 0 1.56452e-12 0.007413 1.61141e-12 18 70 FOXRED1 55572 broad.mit.edu 37 11 126139117 126139117 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:126139117C>T uc001qdi.2 + 1 63 c.16C>T c.(16-18)CTG>TTG p.L6L SRPR_uc001qdh.2_5'Flank|SRPR_uc010sbm.1_5'Flank|FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_5'UTR|FOXRED1_uc001qdk.2_5'Flank NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 6 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) TCGGAGGGTTCTGCCGCACGG 0.617 NaN 0 0 0 0.008871 0 18 65 KCNJ5 3762 broad.mit.edu 37 11 128781855 128781855 + Silent SNP C C T rs149327599 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:128781855C>T uc001qet.2 + 2 1001 c.687C>T c.(685-687)ATC>ATT p.I229I KCNJ5_uc009zck.2_Silent_p.I229I|KCNJ5_uc001qew.2_Silent_p.I229I NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 229 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) ACTCCCACATCGTGGAGGCCT 0.592 NaN 0 0 0 0.00623 0 38 119 NCAPD3 23310 broad.mit.edu 37 11 134064592 134064592 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr11:134064592C>T uc001qhd.1 - 14 2263 c.1657G>A c.(1657-1659)GAG>AAG p.E553K NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 553 HEAT 2. cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TTGGTCTTCTCATCCCTGATC 0.418 NaN 0 0 0 0.00245 0 14 79 WNK1 65125 broad.mit.edu 37 12 936320 936320 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:936320G>A uc001qio.3 + 3 1552 c.1045G>A c.(1045-1047)GAT>AAT p.D349N WNK1_uc001qin.2_Missense_Mutation_p.D349N|WNK1_uc001qip.3_Missense_Mutation_p.D349N NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 349 Protein kinase. Proton acceptor (By similarity). intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CATTCACCGCGATCTTAAATG 0.463 NaN 0 0 0 0.01441 0 69 225 KCNA1 3736 broad.mit.edu 37 12 5020928 5020928 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:5020928G>A uc001qnh.2 + 2 1489 c.384G>A c.(382-384)GAG>GAA p.E128E NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 128 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGCCATGGAGAAGTTCCGGG 0.632 NaN 0 0 0 0.006122 0 18 77 CHD4 1108 broad.mit.edu 37 12 6690250 6690250 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:6690250C>G uc001qpo.2 - 33 5033 c.4869G>C c.(4867-4869)GTG>GTC p.V1623V CHD4_uc001qpn.2_Silent_p.V1616V|CHD4_uc001qpp.2_Silent_p.V1648V|uc001qpq.1_Intron NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1623 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCTCTCCTTCACCTCTGCCT 0.403 NaN 0 0 0 0.01441 0 103 357 LST-3TM12 338821 broad.mit.edu 37 12 21200106 21200106 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:21200106G>C uc010sin.1 + 7 949 c.949G>C c.(949-951)GAG>CAG p.E317Q SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.E364Q NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 317 membrane transporter activity 0 TAAAATGGTGGAGCAACAGTA 0.338 NaN 0 0 0 0.006214 0 9 25 C12orf39 80763 broad.mit.edu 37 12 21680080 21680080 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:21680080G>A uc001rfa.1 + 3 250 c.99G>A c.(97-99)GAG>GAA p.E33E C12orf39_uc009ziv.1_5'Flank|C12orf39_uc009ziw.1_5'Flank NM_030572 NP_085049 Q9BT56 SPXN_HUMAN spexin precursor 33 extracellular region|nucleus|transport vesicle 0 GACTGTTGGAGAGAAGGAACT 0.433 NaN 0 0 0 0.003271 0 34 133 C12orf11 55726 broad.mit.edu 37 12 27066551 27066551 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:27066551C>T uc001rhk.3 - 14 2181 c.1644G>A c.(1642-1644)GAG>GAA p.E548E C12orf11_uc001rhj.3_Silent_p.E116E|C12orf11_uc010sjk.1_Silent_p.E447E NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 548 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) TTTGATGTTTCTCTGAGTTGT 0.418 NaN 0 0 0 0.01441 0 115 375 FGD4 121512 broad.mit.edu 37 12 32735372 32735372 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:32735372G>A uc001rkz.2 + 4 1048 c.571G>A c.(571-573)GAG>AAG p.E191K FGD4_uc001rlc.2_Missense_Mutation_p.E276K|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.E303K|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.E191K NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 191 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) TCTGGAACTGGAGCAGCTGGA 0.498 NaN 0 0 0 0.003163 0 14 75 LRRK2 120892 broad.mit.edu 37 12 40753217 40753217 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:40753217G>C uc001rmg.3 + 47 7120 c.6999G>C c.(6997-6999)CAG>CAC p.Q2333H LRRK2_uc009zjw.2_Missense_Mutation_p.Q1171H|LRRK2_uc001rmi.2_Missense_Mutation_p.Q1166H NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2333 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCACCATTCAGAAACTCATTG 0.303 NaN 0 0 0 0.006122 0 16 64 COL2A1 1280 broad.mit.edu 37 12 48369179 48369179 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:48369179G>A uc001rqu.2 - 51 3988 c.3807C>T c.(3805-3807)ATC>ATT p.I1269I COL2A1_uc001rqt.2_Silent_p.I50I|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.I1200I NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1269 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CGGGGCTGCGGATGCTCTCAA 0.607 NaN 0 0 0 0.003954 0 25 91 ADCY6 112 broad.mit.edu 37 12 49176905 49176905 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:49176905C>T uc001rsh.3 - 1 973 c.313G>A c.(313-315)GAG>AAG p.E105K ADCY6_uc001rsj.3_Missense_Mutation_p.E105K|ADCY6_uc001rsi.3_Missense_Mutation_p.E105K NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 105 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 GGCGCCACCTCAGCCGTCCCG 0.711 NaN 0 0 0 0.00333 0 22 89 DDX23 9416 broad.mit.edu 37 12 49228219 49228219 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:49228219G>C uc001rsm.2 - 12 1535 c.1444C>G c.(1444-1446)CAA>GAA p.Q482E NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 482 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 TCAATCTGTTGAGCCAACTCA 0.547 NaN 0 0 0 0.005524 0 33 110 DDX23 9416 broad.mit.edu 37 12 49231850 49231850 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:49231850G>C uc001rsm.2 - 6 585 c.494C>G c.(493-495)TCT>TGT p.S165C NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 165 Glu-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 TTCTGCTTTAGAGAGGAACTT 0.498 NaN 0 0 0 0.007835 0 39 164 MLL2 8085 broad.mit.edu 37 12 49434415 49434415 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:49434415G>A uc001rta.3 - 31 7138 c.7138C>T c.(7138-7140)CAG>TAG p.Q2380* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2380 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AATGGGGGCTGAGCATATGGG 0.652 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.012319 0 19 41 SPRYD3 84926 broad.mit.edu 37 12 53460151 53460151 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:53460151C>G uc001sbt.1 - 10 1162 c.1141G>C c.(1141-1143)GAG>CAG p.E381Q NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 381 Glu-rich. central_nervous_system(1) 1 tcctcttcctcttcctcttcc 0.443 NaN OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 24 73 SPRYD3 84926 broad.mit.edu 37 12 53460160 53460160 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:53460160C>T uc001sbt.1 - 10 1153 c.1132G>A c.(1132-1134)GAA>AAA p.E378K NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 378 Glu-rich. central_nervous_system(1) 1 tcttcctcttcctcctcttcc 0.428 NaN OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.012319 0 21 71 ATF7 11016 broad.mit.edu 37 12 53911120 53911120 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:53911120G>C uc001sdy.2 - 11 1307 c.1286C>G c.(1285-1287)TCA>TGA p.S429* ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Nonsense_Mutation_p.S418*|ATF7_uc010sol.1_Nonsense_Mutation_p.S397*|uc001sdx.2_RNA NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 429 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 CGTTGGCTCTGAGCTTTCCTT 0.547 NaN 0 0 0 0.00308 0 8 20 GPR84 53831 broad.mit.edu 37 12 54756622 54756622 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:54756622G>A uc001sfu.2 - 2 1104 c.1014C>T c.(1012-1014)CTC>CTT p.L338L NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 338 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity breast(2) 2 CCAGAATGTTGAGCAGCAAGA 0.537 NaN 0 0 0 0.01441 0 59 168 PA2G4 5036 broad.mit.edu 37 12 56505295 56505295 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:56505295G>C uc001sjm.2 + 12 1520 c.1101G>C c.(1099-1101)CAG>CAC p.Q367H PA2G4_uc009zol.2_Intron|PA2G4_uc009zom.2_Intron NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 367 Necessary for nucleolar localization.|Interaction with RNA (By similarity). cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GAAAAACCCAGAAAAAGAAAA 0.393 NaN 0 0 0 0.003755 0 33 142 MIP 4284 broad.mit.edu 37 12 56848060 56848060 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:56848060C>G uc001slh.2 - 1 370 c.338G>C c.(337-339)CGA>CCA p.R113P NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 113 Extracellular (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 TAGGTTTCCTCGGACAGCAGG 0.597 NaN 0 0 0 0.003163 0 16 60 GLS2 27165 broad.mit.edu 37 12 56868840 56868840 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:56868840G>C uc001slj.2 - 10 1263 c.984C>G c.(982-984)CTC>CTG p.L328L GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.L63L|GLS2_uc009zot.2_Intron NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 328 LK -> HE (in Ref. 1; AAF21933). cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTTTTCCTTGAGATAATAGC 0.502 NaN 0 0 0 0.01441 0 56 200 DTX3 196403 broad.mit.edu 37 12 58001129 58001129 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:58001129G>C uc001sow.1 + 5 820 c.483G>C c.(481-483)GAG>GAC p.E161D DTX3_uc001sov.1_Missense_Mutation_p.E154D|DTX3_uc001sox.1_Missense_Mutation_p.E154D|DTX3_uc001soy.1_Missense_Mutation_p.E154D|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank NM_178502 NP_848597 Q8N9I9 DTX3_HUMAN deltex homolog 3 161 Notch signaling pathway cytoplasm zinc ion binding breast(1)|central_nervous_system(1) 2 Melanoma(17;0.122) AAGAGCAGGAGAGCACCTGCC 0.483 NaN 0 0 0 0.001984 0 6 16 DPY19L2 283417 broad.mit.edu 37 12 63963010 63963010 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:63963010C>G uc001srp.1 - 21 2301 c.2120G>C c.(2119-2121)AGA>ACA p.R707T DPY19L2_uc010sso.1_Missense_Mutation_p.R154T NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 707 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCACTTAGTTCTCACAACACA 0.299 NaN 0 0 0 0.01441 0 37 120 KRR1 11103 broad.mit.edu 37 12 75900673 75900673 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:75900673C>T uc001sxt.2 - 3 323 c.282G>A c.(280-282)CTG>CTA p.L94L KRR1_uc009zsc.2_Silent_p.L94L|KRR1_uc010stx.1_Silent_p.L94L NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 94 rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 TGCCTTCGATCAGGTCCAGGG 0.373 NaN 0 0 0 0.00278 0 22 56 NAV3 89795 broad.mit.edu 37 12 78225383 78225383 + Nonsense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:78225383G>T uc001syp.2 + 1 315 c.142G>T c.(142-144)GAG>TAG p.E48* NAV3_uc001syo.2_Nonsense_Mutation_p.E48* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 48 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TACTGAAACAGAGAGCTCCAT 0.453 NaN HNSCC(70;0.22) 1 0 8.16721e-17 0.010818 8.45889e-17 34 115 C12orf50 160419 broad.mit.edu 37 12 88391905 88391905 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:88391905G>C uc001tam.1 - 4 364 c.196C>G c.(196-198)CTG>GTG p.L66V C12orf50_uc001tan.2_Missense_Mutation_p.L120V NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 66 skin(2)|ovary(1) 3 TGAGGTTTCAGAGGTTCTTGA 0.373 NaN 0 0 0 0.014323 0 22 53 DEPDC4 120863 broad.mit.edu 37 12 100649888 100649888 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:100649888C>G uc001thi.2 - 4 820 c.817G>C c.(817-819)GAT>CAT p.D273H DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.D219H|DEPDC4_uc009ztv.1_Missense_Mutation_p.D273H|DEPDC4_uc001thk.1_Missense_Mutation_p.D84H|DEPDC4_uc001thl.1_RNA NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 273 intracellular signal transduction 0 ATAACAAGATCTTCCTCTTTG 0.328 NaN 0 0 0 0.003954 0 26 91 UTP20 27340 broad.mit.edu 37 12 101711260 101711260 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:101711260G>C uc001tia.1 + 22 2713 c.2557G>C c.(2557-2559)GAG>CAG p.E853Q NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 853 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 CGGTAGCAATGAGTATTACCC 0.473 NaN 0 0 0 0.00499 0 16 51 MYBPC1 4604 broad.mit.edu 37 12 102036345 102036345 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:102036345G>C uc001tii.2 + 9 841 c.739G>C c.(739-741)GAG>CAG p.E247Q MYBPC1_uc001tif.1_Missense_Mutation_p.E260Q|MYBPC1_uc001tig.2_Missense_Mutation_p.E272Q|MYBPC1_uc010svq.1_Missense_Mutation_p.E234Q|MYBPC1_uc001tih.2_Missense_Mutation_p.E272Q|MYBPC1_uc001tij.2_Missense_Mutation_p.E247Q|MYBPC1_uc010svr.1_Missense_Mutation_p.E247Q|MYBPC1_uc010svs.1_Missense_Mutation_p.E247Q|MYBPC1_uc010svt.1_Missense_Mutation_p.E235Q|MYBPC1_uc010svu.1_Missense_Mutation_p.E228Q|MYBPC1_uc001tik.2_Missense_Mutation_p.E221Q NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 247 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 CATGCGCAGAGAGGAGAAGAA 0.632 NaN 0 0 0 0.000602 0 4 9 ANKRD13A 88455 broad.mit.edu 37 12 110463573 110463573 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:110463573G>A uc001tpx.2 + 8 1087 c.828G>A c.(826-828)GTG>GTA p.V276V ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc010sxw.1_Silent_p.V276V|ANKRD13A_uc001tpy.2_5'UTR|ANKRD13A_uc001tpz.2_5'Flank NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 276 0 ATGTGAATGTGATCACCAAAA 0.398 NaN 0 0 0 0.01441 0 57 123 BRAP 8315 broad.mit.edu 37 12 112096587 112096587 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:112096587C>T uc001tsn.3 - 9 1368 c.1174G>A c.(1174-1176)GAG>AAG p.E392K BRAP_uc010syh.1_Missense_Mutation_p.E213K|BRAP_uc009zvv.2_Missense_Mutation_p.E362K NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 392 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 GTATCCCCCTCACATTCATAC 0.348 NaN 0 0 0 0.008871 0 18 73 NOS1 4842 broad.mit.edu 37 12 117685219 117685219 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:117685219C>G uc001twm.1 - 18 3443 c.2757G>C c.(2755-2757)ATG>ATC p.M919I NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 919 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCCCTTCCCTCATCTTCAGGA 0.547 NaN 0 0 0 0.003954 0 25 97 CIT 11113 broad.mit.edu 37 12 120166373 120166373 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:120166373C>T uc001txi.1 - 27 3452 c.3399G>A c.(3397-3399)ATG>ATA p.M1133I CIT_uc001txh.1_Missense_Mutation_p.M667I|CIT_uc001txj.1_Missense_Mutation_p.M1175I NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1133 Potential.|Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TTCGGGCATTCATTTCAAGCA 0.463 NaN 0 0 0 0.01441 0 84 280 KDM2B 84678 broad.mit.edu 37 12 121882022 121882022 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:121882022G>C uc001uat.2 - 16 2348 c.2244C>G c.(2242-2244)CTC>CTG p.L748L KDM2B_uc001uaq.2_Silent_p.L188L|KDM2B_uc010szy.1_Silent_p.L188L|KDM2B_uc001uar.2_Silent_p.L339L|KDM2B_uc001uas.2_Silent_p.L717L|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'UTR|KDM2B_uc010szx.1_5'UTR|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 748 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 TCTGCTCCTTGAGCAGGGAGC 0.572 NaN OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004289 0 38 90 SETD8 387893 broad.mit.edu 37 12 123875261 123875261 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:123875261G>A uc001uew.2 + 3 259 c.217G>A c.(217-219)GAG>AAG p.E73K SETD8_uc001uex.2_Missense_Mutation_p.E8K NM_020382 NP_065115 Q9NQR1 SETD8_HUMAN SET domain-containing 8 114 cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) CCTTCAGGAAGAGAACTCAGT 0.453 NaN 0 0 0 0.00333 0 24 90 PIWIL1 9271 broad.mit.edu 37 12 130830392 130830392 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:130830392G>A uc001uik.2 + 4 375 c.285G>A c.(283-285)CAG>CAA p.Q95Q PIWIL1_uc001uij.1_Silent_p.Q95Q NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 95 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATACAAGGCAGAACCTAGACC 0.393 NaN 0 0 0 0.007413 0 19 84 GPR133 283383 broad.mit.edu 37 12 131498798 131498798 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr12:131498798G>A uc001uit.3 + 13 1945 c.1386G>A c.(1384-1386)CTG>CTA p.L462L GPR133_uc010tbm.1_Silent_p.L494L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 462 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCAGCCACCTGATTTCCCTGG 0.582 NaN 0 0 0 0.00308 0 8 102 ZMYM2 7750 broad.mit.edu 37 13 20567555 20567555 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:20567555G>A uc001umr.2 + 4 641 c.343G>A c.(343-345)GAG>AAG p.E115K ZMYM2_uc001umq.2_Missense_Mutation_p.E115K|ZMYM2_uc001ums.2_Missense_Mutation_p.E115K|ZMYM2_uc001umt.2_Missense_Mutation_p.E115K|ZMYM2_uc009zzn.1_Missense_Mutation_p.E137K NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) AAGTGTAAGTGAGACAATTGT 0.353 NaN 0 0 0 0.001855 0 13 33 ZMYM2 7750 broad.mit.edu 37 13 20567608 20567608 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:20567608G>C uc001umr.2 + 4 694 c.396G>C c.(394-396)GAG>GAC p.E132D ZMYM2_uc001umq.2_Missense_Mutation_p.E132D|ZMYM2_uc001ums.2_Missense_Mutation_p.E132D|ZMYM2_uc001umt.2_Missense_Mutation_p.E132D|ZMYM2_uc009zzn.1_Missense_Mutation_p.E154D NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) AAGGGCAAGAGAAAAATTCCT 0.383 NaN 0 0 0 0.004007 0 17 65 MRP63 78988 broad.mit.edu 37 13 21751269 21751269 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:21751269G>C uc001unw.2 + 2 704 c.214G>C c.(214-216)GAG>CAG p.E72Q SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank NM_024026 NP_076931 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 72 0 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) GGAGGCCTTCGAGGCCATAAA 0.612 NaN 0 0 0 0.013537 0 12 41 NBEA 26960 broad.mit.edu 37 13 36229746 36229746 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:36229746G>A uc001uvb.2 + 54 8365 c.8159G>A c.(8158-8160)TGG>TAG p.W2720* NBEA_uc010abi.2_Nonsense_Mutation_p.W1376*|NBEA_uc010tef.1_Nonsense_Mutation_p.W513*|NBEA_uc001uvd.2_Nonsense_Mutation_p.W298* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2720 WD 2. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTGGCCATTGGGATGTGGTC 0.458 NaN 0 0 0 0.01441 0 61 214 ELF1 1997 broad.mit.edu 37 13 41515451 41515451 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:41515451G>A uc001uxs.2 - 8 1235 c.862C>T c.(862-864)CAG>TAG p.Q288* ELF1_uc010tfc.1_Nonsense_Mutation_p.Q264*|ELF1_uc010acd.2_Nonsense_Mutation_p.Q181* NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 288 ETS. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) TCTTTAAACTGATACACCAAG 0.368 NaN 0 0 0 0.01441 0 58 185 KBTBD6 89890 broad.mit.edu 37 13 41705016 41705016 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:41705016C>G uc001uxu.1 - 1 1921 c.1632G>C c.(1630-1632)TGG>TGC p.W544C KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.W478C|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 544 Kelch 4. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TCATTTGCCTCCATTCTGCCC 0.448 NaN 0 0 0 0.01441 0 52 173 KBTBD6 89890 broad.mit.edu 37 13 41705099 41705099 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:41705099C>T uc001uxu.1 - 1 1838 c.1549G>A c.(1549-1551)GAA>AAA p.E517K KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E451K|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 517 Kelch 3. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ACGCAGGCTTCCTGAAAGTCA 0.433 NaN 0 0 0 0.007413 0 20 109 KBTBD6 89890 broad.mit.edu 37 13 41706332 41706332 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:41706332C>G uc001uxu.1 - 1 605 c.316G>C c.(316-318)GAG>CAG p.E106Q KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Intron|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 106 BTB. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TGCTGGCTCTCGTACATGCCA 0.622 NaN 0 0 0 0.004007 0 17 59 NAA16 79612 broad.mit.edu 37 13 41943355 41943355 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:41943355G>C uc001uyf.2 + 15 2207 c.1883G>C c.(1882-1884)AGA>ACA p.R628T NAA16_uc010tfg.1_RNA NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 628 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 aagaaaaaaagagatgaagaa 0.224 NaN 0 0 0 0.013537 0 13 69 TNFSF11 8600 broad.mit.edu 37 13 43180957 43180957 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:43180957G>C uc001uyu.2 + 5 1006 c.857G>C c.(856-858)GGA>GCA p.G286A TNFSF11_uc001uyt.2_Missense_Mutation_p.G213A NM_003701 NP_003692 O14788 TNF11_HUMAN tumor necrosis factor ligand superfamily, member 286 Extracellular (Potential). immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding 0 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TTACGGTCTGGAGAGGAAATC 0.433 NaN 0 0 0 0.004289 0 36 135 KPNA3 3839 broad.mit.edu 37 13 50276524 50276524 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:50276524C>T uc001vdj.2 - 16 1880 c.1465G>A c.(1465-1467)GAT>AAT p.D489N NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 489 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CTACTTACATCATCACCAGAG 0.274 NaN 0 0 0 0.008291 0 9 42 KPNA3 3839 broad.mit.edu 37 13 50299570 50299570 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:50299570G>A uc001vdj.2 - 7 866 c.451C>T c.(451-453)CAA>TAA p.Q151* NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 151 ARM 3.|NLS binding site (major) (By similarity). interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) ACAACAGCTTGAGTCTGTGCA 0.338 NaN 0 0 0 0.004007 0 14 44 KPNA3 3839 broad.mit.edu 37 13 50299581 50299581 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:50299581G>A uc001vdj.2 - 7 855 c.440C>T c.(439-441)TCT>TTT p.S147F NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 147 ARM 2.|NLS binding site (major) (By similarity). interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) AGTCTGTGCAGAAGTTCCTGA 0.348 NaN 0 0 0 0.00499 0 15 49 GPC5 2262 broad.mit.edu 37 13 92560198 92560198 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:92560198C>T uc010tif.1 + 6 1654 c.1288C>T c.(1288-1290)CAG>TAG p.Q430* NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 430 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TAGTTATACTCAGCGTGTGGT 0.383 NaN 0 0 0 0.00278 0 20 74 TPP2 7174 broad.mit.edu 37 13 103298650 103298650 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:103298650G>A uc001vpi.3 + 20 2503 c.2400G>A c.(2398-2400)GTG>GTA p.V800V NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 800 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACAGCCCAGTGAGTGCAAAAA 0.338 NaN 0 0 0 0.010729 0 11 41 SLC10A2 6555 broad.mit.edu 37 13 103701788 103701788 + Missense_Mutation SNP G G A rs145541774 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:103701788G>A uc001vpy.3 - 5 1367 c.770C>T c.(769-771)ACG>ATG p.T257M NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 257 Extracellular (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAAAGCAACCGTTCGGCACCT 0.408 NaN 0 0 0 0.006122 0 18 55 FAM155A 728215 broad.mit.edu 37 13 108518440 108518440 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:108518440C>T uc001vql.2 - 1 1021 c.505G>A c.(505-507)GAG>AAG p.E169K NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 169 integral to membrane binding skin(1) 1 TAACAAGTCTCCAGGCGCCAC 0.697 NaN 0 0 0 0.004007 0 16 66 TEP1 7011 broad.mit.edu 37 14 20841487 20841487 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:20841487G>A uc001vxe.2 - 47 6796 c.6756C>T c.(6754-6756)CTC>CTT p.L2252L TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Silent_p.L1595L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L2144L|TEP1_uc010tlh.1_Silent_p.L590L NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2252 WD 15. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CGGTCAGCATGAGGCCTGAGG 0.587 NaN 0 0 0 0.004878 0 38 113 RNASE10 338879 broad.mit.edu 37 14 20978929 20978929 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:20978929C>G uc010tlj.1 + 1 299 c.299C>G c.(298-300)TCA>TGA p.S100* RNASE10_uc001vxp.2_Nonsense_Mutation_p.S128* NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 100 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CTCAGAGCCTCAGCTCTCTTT 0.493 NaN 0 0 0 0.008291 0 11 35 CHD8 57680 broad.mit.edu 37 14 21863460 21863460 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:21863460C>T uc001was.1 - 29 4436 c.4342G>A c.(4342-4344)GAA>AAA p.E1448K CHD8_uc001war.1_Missense_Mutation_p.E1344K NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1727 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGTTTACCTTCATCTCCATCA 0.468 NaN 0 0 0 0.001984 0 7 24 CDH24 64403 broad.mit.edu 37 14 23524387 23524387 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:23524387G>A uc001wil.2 - 3 637 c.377C>T c.(376-378)TCC>TTC p.S126F CDH24_uc010akf.2_Missense_Mutation_p.S126F|CDH24_uc001win.3_Missense_Mutation_p.S126F NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 126 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GGGCCGGTTGGAGGCTCGGTC 0.552 NaN OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 20 131 HECTD1 25831 broad.mit.edu 37 14 31574848 31574848 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:31574848G>C uc001wrc.1 - 39 7742 c.7253C>G c.(7252-7254)TCA>TGA p.S2418* HECTD1_uc001wra.1_Nonsense_Mutation_p.S544*|HECTD1_uc001wrb.1_Nonsense_Mutation_p.S544* NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2418 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATATATTCTTGAGGAAGGGCA 0.328 NaN 0 0 0 0.003271 0 35 83 PSMA6 5687 broad.mit.edu 37 14 35786501 35786501 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:35786501G>C uc001wtd.2 + 7 839 c.730G>C c.(730-732)GAG>CAG p.E244Q KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.E165Q|PSMA6_uc010tpu.1_Missense_Mutation_p.E165Q NM_002791 NP_002782 P60900 PSA6_HUMAN proteasome alpha 6 subunit 244 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity 0 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) TGCTCTAGCAGAGAGAGACTA 0.383 NaN 0 0 0 0.012213 0 30 168 CTAGE5 4253 broad.mit.edu 37 14 39762517 39762517 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:39762517G>A uc001wvg.3 + 6 763 c.427G>A c.(427-429)GAT>AAT p.D143N CTAGE5_uc010tqe.1_Missense_Mutation_p.D105N|CTAGE5_uc001wuz.3_Missense_Mutation_p.D131N|CTAGE5_uc001wuy.3_Missense_Mutation_p.D63N|CTAGE5_uc001wvb.3_Missense_Mutation_p.D114N|CTAGE5_uc001wvc.3_Missense_Mutation_p.D88N|CTAGE5_uc001wva.3_Missense_Mutation_p.D114N|CTAGE5_uc001wve.1_Missense_Mutation_p.D119N|CTAGE5_uc001wvh.3_Missense_Mutation_p.D143N|CTAGE5_uc001wvf.3_Missense_Mutation_p.D68N|CTAGE5_uc001wvi.3_Missense_Mutation_p.D148N|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.D114N NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 143 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TGAACTTGAGGATGAAATACT 0.323 NaN 0 0 0 0.00308 0 6 66 FANCM 57697 broad.mit.edu 37 14 45658401 45658401 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:45658401C>G uc001wwd.3 + 20 5275 c.5176C>G c.(5176-5178)CCA>GCA p.P1726A FANCM_uc010anf.2_Missense_Mutation_p.P1700A|FANCM_uc001wwe.3_Missense_Mutation_p.P1262A|FANCM_uc010ang.2_Missense_Mutation_p.P940A NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1726 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AAGAGTTAATCCATTAGCAAA 0.408 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 72 222 NIN 51199 broad.mit.edu 37 14 51196370 51196370 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:51196370C>T uc001wym.2 - 29 6140 c.5949G>A c.(5947-5949)CAG>CAA p.Q1983Q NIN_uc001wyi.2_Silent_p.Q1983Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.Q1270Q|NIN_uc010tqp.1_Silent_p.Q1989Q|NIN_uc001wyo.2_Silent_p.Q1983Q|NIN_uc001wyn.2_RNA NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1983 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GACAGGCTTGCTGCTGGAGCA 0.582 NaN T PDGFRB MPD 0 0 0 0.004482 0 5 19 NIN 51199 broad.mit.edu 37 14 51204915 51204915 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:51204915C>T uc001wym.2 - 27 5909 c.5718G>A c.(5716-5718)TTG>TTA p.L1906L NIN_uc001wyi.2_Silent_p.L1906L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L1193L|NIN_uc010tqp.1_Silent_p.L1912L|NIN_uc001wyo.2_Silent_p.L1906L|NIN_uc001wyn.2_RNA NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1906 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TCTTTAAGCTCAATTTTTCTT 0.413 NaN T PDGFRB MPD 0 0 0 0.010771 0 46 146 MUDENG 55745 broad.mit.edu 37 14 57741516 57741516 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:57741516C>G uc001xcv.2 + 2 1056 c.629C>G c.(628-630)TCT>TGT p.S210C MUDENG_uc001xcu.3_Missense_Mutation_p.S210C|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.S107C NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 210 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 CCACAAGTTTCTATTTCTATC 0.378 NaN 0 0 0 0.014323 0 22 101 ARID4A 5926 broad.mit.edu 37 14 58831340 58831340 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:58831340G>A uc001xdp.2 + 20 2787 c.2533G>A c.(2533-2535)GAA>AAA p.E845K ARID4A_uc001xdo.2_Missense_Mutation_p.E845K|ARID4A_uc001xdq.2_Missense_Mutation_p.E845K|ARID4A_uc010apg.1_Missense_Mutation_p.E523K NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 845 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 TACAGAAGATGAAATTGACCA 0.343 NaN 0 0 0 0.00308 0 8 50 C14orf39 317761 broad.mit.edu 37 14 60923747 60923747 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:60923747C>T uc001xez.3 - 15 1356 c.1246G>A c.(1246-1248)GAG>AAG p.E416K C14orf39_uc010apo.2_Missense_Mutation_p.E127K NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 416 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) GGAAAATTCTCAGCTCTCTCT 0.353 NaN 0 0 0 0.01441 0 47 158 PSEN1 5663 broad.mit.edu 37 14 73614734 73614734 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:73614734G>A uc001xnr.2 + 3 291 c.7G>A c.(7-9)GAG>AAG p.E3K PSEN1_uc001xnv.2_Missense_Mutation_p.E3K|PSEN1_uc010ark.2_Missense_Mutation_p.E3K|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.E3K NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 3 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TCCAATGACAGAGTTACCTGC 0.428 NaN 0 0 0 0.003163 0 11 38 ACOT6 641372 broad.mit.edu 37 14 74086448 74086448 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:74086448C>T uc001xop.2 + 2 860 c.529C>T c.(529-531)CAC>TAC p.H177Y NM_001037162 NP_001032239 Q3I5F7 ACOT6_HUMAN acyl-CoA thioesterase 6 177 cytosol carboxylesterase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) GCCAAAGGCTCACTCAAAGGC 0.423 NaN 0 0 0 0.013537 0 13 71 PNMA1 9240 broad.mit.edu 37 14 74179622 74179622 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:74179622C>G uc001xor.1 - 1 1507 c.721G>C c.(721-723)GAG>CAG p.E241Q NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 241 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) ctagagctctcaacgctccca 0 NaN 0 0 0 0.006999 0 35 132 PNMA1 9240 broad.mit.edu 37 14 74180243 74180243 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:74180243C>T uc001xor.1 - 1 886 c.100G>A c.(100-102)GAA>AAA p.E34K NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 34 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) tcttcgatttcagcctcatca 0 NaN 0 0 0 0.01441 0 57 171 C14orf115 55237 broad.mit.edu 37 14 74824670 74824670 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:74824670C>G uc001xpw.3 + 2 1375 c.1184C>G c.(1183-1185)TCA>TGA p.S395* NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 395 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CTGGCGGTGTCAAGCCCTGGA 0.607 NaN 0 0 0 0.004482 0 9 58 TTLL5 23093 broad.mit.edu 37 14 76249706 76249706 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:76249706C>T uc001xrx.2 + 26 3024 c.2819C>T c.(2818-2820)TCT>TTT p.S940F TTLL5_uc010ask.1_Missense_Mutation_p.S954F|TTLL5_uc001xrz.2_Missense_Mutation_p.S515F|TTLL5_uc001xsa.2_Missense_Mutation_p.S13F|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 940 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) AACACAGTCTCTGCCAGTGCT 0.537 NaN 0 0 0 0.00333 0 25 90 TTLL5 23093 broad.mit.edu 37 14 76249833 76249833 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:76249833C>T uc001xrx.2 + 26 3151 c.2946C>T c.(2944-2946)ATC>ATT p.I982I TTLL5_uc010ask.1_Silent_p.I996I|TTLL5_uc001xrz.2_Silent_p.I557I|TTLL5_uc001xsa.2_Silent_p.I55I|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 982 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) CTGCACACATCTATAGCCAGA 0.532 NaN 0 0 0 0.012319 0 20 109 C14orf4 64207 broad.mit.edu 37 14 77492255 77492255 + Silent SNP G G C rs142866521 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:77492255G>C uc001xsy.2 - 1 2780 c.1881C>G c.(1879-1881)CTC>CTG p.L627L NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 627 nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) CCACCGACATGAGAGCGGCCA 0.582 NaN 0 0 0 0.001168 0 6 20 SEL1L 6400 broad.mit.edu 37 14 81950592 81950592 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:81950592C>G uc010tvv.1 - 19 2140 c.2023G>C c.(2023-2025)GAG>CAG p.E675Q NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 675 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 11. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) AGTCCTTTCTCATGCATATAT 0.393 NaN 0 0 0 0.01441 0 147 551 ATG2B 55102 broad.mit.edu 37 14 96807895 96807895 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:96807895G>A uc001yfi.2 - 6 1253 c.888C>T c.(886-888)CTC>CTT p.L296L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 296 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) GTTTCAACGTGAGACTCAACT 0.393 NaN 0 0 0 0.008361 0 25 94 AK7 122481 broad.mit.edu 37 14 96912857 96912857 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:96912857G>C uc001yfn.2 + 8 827 c.783G>C c.(781-783)GTG>GTC p.V261V NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 261 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TCTGCAGAGTGATACAAAACG 0.473 NaN 0 0 0 0.007291 0 25 59 BAG5 9529 broad.mit.edu 37 14 104026370 104026370 + Nonsense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:104026370C>A uc001yni.1 - 2 1366 c.1132G>T c.(1132-1134)GAG>TAG p.E378* KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Nonsense_Mutation_p.E419*|BAG5_uc001ynj.1_Nonsense_Mutation_p.E378*|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 378 BAG 5. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) CCCTGGATCTCAGACAAGTTT 0.483 NaN 1 0 1.34996e-11 0.009718 1.38734e-11 39 121 BAG5 9529 broad.mit.edu 37 14 104026577 104026577 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:104026577C>T uc001yni.1 - 2 1159 c.925G>A c.(925-927)GAA>AAA p.E309K KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E350K|BAG5_uc001ynj.1_Missense_Mutation_p.E309K|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 309 BAG 4. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) CCCTGCAATTCTGTTTTGGAG 0.408 NaN 0 0 0 0.008361 0 31 102 KLC1 3831 broad.mit.edu 37 14 104037964 104037964 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:104037964C>G uc010tyd.1 + 2 168 c.128C>G c.(127-129)TCA>TGA p.S43* C14orf153_uc001ynl.3_RNA|C14orf153_uc010tyc.1_Nonsense_Mutation_p.S56* NM_005552 NP_005543 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 1 Error:Variant_position_missing_in_Q07866_after_alignment blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) TTAAAGGTCTCAAGATTCTGC 0.299 NaN 0 0 0 0.003954 0 25 107 INF2 64423 broad.mit.edu 37 14 105169764 105169764 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:105169764C>T uc001ypb.2 + 4 783 c.640C>T c.(640-642)CGC>TGC p.R214C INF2_uc010tyi.1_Missense_Mutation_p.R214C|INF2_uc001ypc.2_Missense_Mutation_p.R214C|INF2_uc001yoy.3_Missense_Mutation_p.R214C|INF2_uc001ypa.2_Missense_Mutation_p.R214C NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 214 GBD/FH3. R -> H (in FSGS5). actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CCTGCGCGCGCGCACCCAGCT 0.652 NaN 0 0 0 0.007291 0 28 130 INF2 64423 broad.mit.edu 37 14 105177451 105177451 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr14:105177451C>T uc001ypb.2 + 15 2489 c.2346C>T c.(2344-2346)ATC>ATT p.I782I INF2_uc010tyi.1_Silent_p.I782I|INF2_uc001ypc.2_Silent_p.I782I|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 782 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GCTTCAAGATCAGCACATTGC 0.667 NaN 0 0 0 0.009096 0 3 7 CASC5 57082 broad.mit.edu 37 15 40920870 40920870 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:40920870G>C uc010bbs.1 + 13 5816 c.5655G>C c.(5653-5655)TTG>TTC p.L1885F CASC5_uc010bbt.1_Missense_Mutation_p.L1859F NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1885 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAGAGAGCTTGAGGGAGGTAT 0.308 NaN 0 0 0 0.013537 0 12 91 DLL4 54567 broad.mit.edu 37 15 41229093 41229093 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:41229093G>C uc001zng.1 + 9 2228 c.1908G>C c.(1906-1908)AAG>AAC p.K636N NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 636 Cytoplasmic (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) ACAGTGACAAGAGCTTAGGAG 0.612 NaN 0 0 0 0.006214 0 8 25 VPS39 23339 broad.mit.edu 37 15 42462051 42462051 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:42462051C>T uc001zpd.2 - 13 1288 c.1137G>A c.(1135-1137)GTG>GTA p.V379V VPS39_uc001zpc.2_Silent_p.V368V NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 379 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ACAGGCCCATCACATGGGTGG 0.468 NaN 0 0 0 0.00623 0 32 108 GANC 2595 broad.mit.edu 37 15 42568597 42568597 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:42568597C>T uc001zpi.2 + 2 395 c.81C>T c.(79-81)ATC>ATT p.I27I GANC_uc001zph.2_Silent_p.I27I|GANC_uc001zpj.1_5'UTR|TMEM87A_uc010udd.1_5'Flank|TMEM87A_uc001zpf.3_5'Flank|TMEM87A_uc010bcu.1_5'Flank|TMEM87A_uc001zpg.2_5'Flank|GANC_uc010ude.1_Silent_p.I27I NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 27 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTAACAAGATCGCATTTTACA 0.294 NaN 0 0 0 0.004672 0 3 31 PPIP5K1 9677 broad.mit.edu 37 15 43873500 43873500 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:43873500C>T uc001zrw.2 - 9 1047 c.864G>A c.(862-864)GGG>GGA p.G288G PPIP5K1_uc001zrx.1_Silent_p.G288G|PPIP5K1_uc001zru.2_Silent_p.G288G|PPIP5K1_uc001zry.3_Silent_p.G288G|PPIP5K1_uc001zrv.2_Silent_p.G288G|PPIP5K1_uc001zrz.1_Silent_p.G288G|PPIP5K1_uc010udr.1_Silent_p.G288G NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN histidine acid phosphatase domain containing 2A 288 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity 0 GAATCTCTTTCCCCTCACTGT 0.512 NaN 0 0 0 0.01441 0 52 259 TMOD2 29767 broad.mit.edu 37 15 52069173 52069173 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:52069173G>A uc002abk.2 + 5 672 c.451G>A c.(451-453)GAA>AAA p.E151K TMOD2_uc002abl.3_Missense_Mutation_p.E151K|TMOD2_uc010bfb.2_Missense_Mutation_p.E107K NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 151 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) AAAGTTCGATGAAGAAACAGC 0.418 NaN 0 0 0 0.004656 0 23 59 WDR72 256764 broad.mit.edu 37 15 53908309 53908309 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:53908309G>C uc002acj.2 - 15 2136 c.2094C>G c.(2092-2094)CTC>CTG p.L698L WDR72_uc010bfi.1_Silent_p.L698L NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 698 lung(1)|skin(1) 2 all cancers(107;0.0511) CAACATCACTGAGTGGAGTTG 0.408 NaN 0 0 0 0.004482 0 9 83 NEDD4 4734 broad.mit.edu 37 15 56130727 56130727 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:56130727C>T uc002adj.2 - 18 3664 c.3364G>A c.(3364-3366)GAT>AAT p.D1122N NEDD4_uc002adl.2_Missense_Mutation_p.D703N|NEDD4_uc002adi.2_Missense_Mutation_p.D1050N|NEDD4_uc010ugj.1_Missense_Mutation_p.D1106N|NEDD4_uc010bfm.2_Missense_Mutation_p.D1105N|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 1122 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) AGTTCTTCATCTATGATAAAC 0.308 NaN 0 0 0 0.005443 0 21 66 SPG21 51324 broad.mit.edu 37 15 65255979 65255979 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:65255979G>A uc002aod.2 - 9 1002 c.909C>T c.(907-909)ATC>ATT p.I303I SPG21_uc002aoe.2_Silent_p.I303I|SPG21_uc010bhb.2_Silent_p.I276I|SPG21_uc010bhc.2_Silent_p.I149I NM_001127889 NP_001121361 Q9NZD8 SPG21_HUMAN spastic paraplegia 21 isoform a 303 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding 0 CCTCCTGGCTGATGCCAAGGC 0.527 NaN 0 0 0 0.01441 0 48 124 C15orf44 81556 broad.mit.edu 37 15 65871820 65871820 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:65871820C>G uc002apd.2 - 12 1819 c.1483G>C c.(1483-1485)GAG>CAG p.E495Q C15orf44_uc010uix.1_Missense_Mutation_p.E531Q|C15orf44_uc010uiz.1_Missense_Mutation_p.E459Q|C15orf44_uc010uja.1_Missense_Mutation_p.E445Q|C15orf44_uc010ujb.1_Missense_Mutation_p.E416Q|C15orf44_uc002ape.3_Missense_Mutation_p.E495Q|C15orf44_uc010uiy.1_Missense_Mutation_p.E416Q NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 495 ovary(1) 1 GCGGCATACTCAGAGGTGCCG 0.532 NaN 0 0 0 0.004878 0 38 127 HCN4 10021 broad.mit.edu 37 15 73660074 73660074 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:73660074C>T uc002avp.2 - 1 1532 c.538G>A c.(538-540)GAG>AAG p.E180K NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 180 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GAGGGCTGCTCGCAGGAGGCG 0.786 NaN 0 0 0 0.000602 0 5 12 TM6SF1 53346 broad.mit.edu 37 15 83776476 83776476 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:83776476C>G uc002bjp.2 + 1 153 c.44C>G c.(43-45)TCG>TGG p.S15W TM6SF1_uc010bmq.2_Missense_Mutation_p.S15W|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15W|TM6SF1_uc010bmr.2_RNA NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 15 Helical; (Potential). integral to membrane ovary(1) 1 CTGTCCCTCTCGGCCATCCCG 0.567 NaN 0 0 0 0.000602 0 5 25 ACAN 176 broad.mit.edu 37 15 89398115 89398115 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:89398115G>A uc010upo.1 + 12 2673 c.2299G>A c.(2299-2301)GCA>ACA p.A767T ACAN_uc010upp.1_Missense_Mutation_p.A767T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 767 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACTGGCGCAGCAACAGAGGA 0.522 NaN 0 0 0 0.004672 0 3 19 CRTC3 64784 broad.mit.edu 37 15 91083274 91083274 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:91083274C>G uc002bpp.2 + 2 242 c.136C>G c.(136-138)CAA>GAA p.Q46E CRTC3_uc002bpn.2_Missense_Mutation_p.Q46E|CRTC3_uc002bpo.2_Missense_Mutation_p.Q46E NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 46 Required for interaction with HTLV-1 TAX. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) TTTCCAGGTTCAATTTCAGAA 0.443 NaN T MAML2 salivary gland mucoepidermoid 0 0 0 0.004656 0 25 48 FURIN 5045 broad.mit.edu 37 15 91424753 91424753 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr15:91424753G>A uc002bpu.1 + 16 2246 c.2030G>A c.(2029-2031)CGG>CAG p.R677Q FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 677 Cys-rich. cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ACTTGCTCCCGGCAAAGCCAG 0.716 NaN 0 0 0 0.000602 0 4 22 MAPK8IP3 23162 broad.mit.edu 37 16 1756554 1756554 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:1756554G>A uc002cmk.2 + 1 334 c.214G>A c.(214-216)GAG>AAG p.E72K MAPK8IP3_uc002cmi.1_Missense_Mutation_p.E72K|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.E72K|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E72K NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 72 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GGTGCTCAGCGAGAACCAGGA 0.637 NaN 0 0 0 0.013537 0 11 23 PKD1 5310 broad.mit.edu 37 16 2159441 2159441 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:2159441G>A uc002cos.1 - 15 5936 c.5727C>T c.(5725-5727)ATC>ATT p.I1909I PKD1_uc002cot.1_Silent_p.I1909I NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1909 Extracellular (Potential).|PKD 15. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CAGCCAGCAGGATCTGAAAAT 0.701 NaN 0 0 0 0.004482 0 6 23 AMDHD2 51005 broad.mit.edu 37 16 2570863 2570863 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:2570863G>A uc002cqq.2 + 2 274 c.177G>A c.(175-177)GGG>GGA p.G59G AMDHD2_uc002cqp.2_Silent_p.G59G|AMDHD2_uc010uwc.1_Silent_p.G59G|AMDHD2_uc010uwd.1_Intron NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 59 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 GGGACTGCGGGGGCCGCATCT 0.687 NaN 0 0 0 0.00308 0 4 33 ZNF200 7752 broad.mit.edu 37 16 3273910 3273910 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:3273910C>G uc002cuj.2 - 5 1802 c.1170G>C c.(1168-1170)AAG>AAC p.K390N ZNF200_uc002cum.3_Missense_Mutation_p.K389N|ZNF200_uc010bti.2_Missense_Mutation_p.K389N|ZNF200_uc002cuk.2_Missense_Mutation_p.K390N|ZNF200_uc002cui.2_Missense_Mutation_p.K389N|ZNF200_uc002cul.3_Missense_Mutation_p.K389N NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 GCTTTCGGGTCTTACAGGCTG 0.483 NaN 0 0 0 0.01441 0 50 307 ZNF200 7752 broad.mit.edu 37 16 3273931 3273931 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:3273931C>G uc002cuj.2 - 5 1781 c.1149G>C c.(1147-1149)GAG>GAC p.E383D ZNF200_uc002cum.3_Missense_Mutation_p.E382D|ZNF200_uc010bti.2_Missense_Mutation_p.E382D|ZNF200_uc002cuk.2_Missense_Mutation_p.E383D|ZNF200_uc002cui.2_Missense_Mutation_p.E382D|ZNF200_uc002cul.3_Missense_Mutation_p.E382D NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 383 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AGTGGGTTTTCTCATGCCGGG 0.478 NaN 0 0 0 0.01441 0 44 351 ZNF200 7752 broad.mit.edu 37 16 3273959 3273959 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:3273959C>G uc002cuj.2 - 5 1753 c.1121G>C c.(1120-1122)GGT>GCT p.G374A ZNF200_uc002cum.3_Missense_Mutation_p.G373A|ZNF200_uc010bti.2_Missense_Mutation_p.G373A|ZNF200_uc002cuk.2_Missense_Mutation_p.G374A|ZNF200_uc002cui.2_Missense_Mutation_p.G373A|ZNF200_uc002cul.3_Missense_Mutation_p.G373A NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 374 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TGACAGCCGACCAAATCTTCT 0.483 NaN 0 0 0 0.01441 0 46 418 ZNF200 7752 broad.mit.edu 37 16 3273997 3273997 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:3273997C>T uc002cuj.2 - 5 1715 c.1083G>A c.(1081-1083)GAG>GAA p.E361E ZNF200_uc002cum.3_Silent_p.E360E|ZNF200_uc010bti.2_Silent_p.E360E|ZNF200_uc002cuk.2_Silent_p.E361E|ZNF200_uc002cui.2_Silent_p.E360E|ZNF200_uc002cul.3_Silent_p.E360E NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CATATGGTCTCTCAGCCTCAT 0.453 NaN 0 0 0 0.01441 0 87 394 ZNF263 10127 broad.mit.edu 37 16 3339455 3339455 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:3339455C>T uc002cuq.2 + 6 1281 c.949C>T c.(949-951)CAG>TAG p.Q317* ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 317 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 CATCCACCCTCAGGTGCTGCT 0.562 NaN 0 0 0 0.01441 0 45 163 BTBD12 84464 broad.mit.edu 37 16 3656547 3656547 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:3656547C>T uc002cvp.2 - 3 1315 c.688G>A c.(688-690)GAG>AAG p.E230K BTBD12_uc002cvq.1_Missense_Mutation_p.E230K NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 230 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 AGGGAGCACTCTTCTGAAGCG 0.542 NaN Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 0 0 0 0.01441 0 81 268 GLIS2 84662 broad.mit.edu 37 16 4382347 4382347 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:4382347G>C uc002cwc.1 + 1 123 c.66G>C c.(64-66)GAG>GAC p.E22D NM_032575 NP_115964 Q9BZE0 GLIS2_HUMAN GLIS family zinc finger 2 22 cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development cytoplasm|nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding 0 CGGCAAGAGAGAAGCGGGAGA 0.682 NaN 0 0 0 0.001855 0 10 40 CORO7 79585 broad.mit.edu 37 16 4412079 4412079 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:4412079G>A uc002cwh.3 - 16 1605 c.1485C>T c.(1483-1485)CTC>CTT p.L495L CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Silent_p.L495L|CORO7_uc002cwg.3_Silent_p.L275L|CORO7_uc010uxh.1_Silent_p.L477L|CORO7_uc010uxi.1_Silent_p.L410L|CORO7_uc002cwi.1_Silent_p.L275L|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Silent_p.L275L NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 495 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CAGGTGTGGTGAGGTTGAGCC 0.642 NaN 0 0 0 0.008871 0 12 46 PPL 5493 broad.mit.edu 37 16 4933745 4933745 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:4933745C>T uc002cyd.1 - 22 5001 c.4911G>A c.(4909-4911)CAG>CAA p.Q1637Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1637 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CCAGGCGCTTCTGCAGCTCGT 0.632 NaN 0 0 0 0.007413 0 16 53 RSL1D1 26156 broad.mit.edu 37 16 11940562 11940562 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:11940562G>C uc002dbp.1 - 4 596 c.523C>G c.(523-525)CAA>GAA p.Q175E RSL1D1_uc010buv.1_Missense_Mutation_p.Q175E|RSL1D1_uc010uyw.1_Translation_Start_Site|RSL1D1_uc010buw.2_RNA NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 175 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 TTCTTTCTTTGATAGAAATGT 0.413 NaN 0 0 0 0.01441 0 85 262 EARS2 124454 broad.mit.edu 37 16 23543988 23543988 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:23543988C>T uc002dlt.3 - 5 1089 c.1057G>A c.(1057-1059)GAA>AAA p.E353K EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.E353K NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 353 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CTGTTGAATTCTGGGAGCTTC 0.512 NaN 0 0 0 0.003163 0 15 48 DCTN5 84516 broad.mit.edu 37 16 23669929 23669929 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:23669929C>G uc002dly.1 + 3 276 c.219C>G c.(217-219)TTC>TTG p.F73L NM_032486 NP_115875 Q9BTE1 DCTN5_HUMAN dynactin 5 73 centrosome transferase activity upper_aerodigestive_tract(1) 1 GBM - Glioblastoma multiforme(48;0.0156) GGCCACCATTCAAGAAGTTCA 0.423 NaN 0 0 0 0.004878 0 36 109 ERN2 10595 broad.mit.edu 37 16 23706204 23706204 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:23706204C>G uc002dma.3 - 17 2258 c.2089G>C c.(2089-2091)GAC>CAC p.D697H ERN2_uc010bxp.2_Missense_Mutation_p.D645H NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 649 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCCTGGCTGTCAGGCCCGGTG 0.627 NaN 0 0 0 0.003163 0 15 48 SEZ6L2 26470 broad.mit.edu 37 16 29883590 29883590 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:29883590G>A uc002duq.3 - 16 2861 c.2621C>T c.(2620-2622)TCC>TTC p.S874F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.S817F|SEZ6L2_uc002dur.3_Missense_Mutation_p.S804F|SEZ6L2_uc002dus.3_Missense_Mutation_p.S773F|SEZ6L2_uc010vec.1_Missense_Mutation_p.S887F|SEZ6L2_uc010ved.1_Missense_Mutation_p.S843F NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 874 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GCCGAAAAGGGACTTTCCCTG 0.602 NaN 0 0 0 0.013537 0 11 54 FUS 2521 broad.mit.edu 37 16 31195651 31195651 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:31195651C>T uc002ebf.2 + 5 540 c.457C>T c.(457-459)CAG>TAG p.Q153* FUS_uc002ebe.1_Nonsense_Mutation_p.Q153*|FUS_uc002ebh.2_Nonsense_Mutation_p.Q152*|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Nonsense_Mutation_p.Q153*|FUS_uc002ebj.2_5'UTR|FUS_uc002ebk.1_5'Flank NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 153 Gln/Gly/Ser/Tyr-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TAATCCCCCTCAGGGCTATGG 0.453 NaN T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 0 0 0 0.012213 0 33 109 ADCY7 113 broad.mit.edu 37 16 50346030 50346030 + Silent SNP G G A rs138338317 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:50346030G>A uc002egd.1 + 20 2800 c.2532G>A c.(2530-2532)GTG>GTA p.V844V NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 844 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TGGAGAACGTGAACCGCCTTC 0.552 NaN 0 0 0 0.006999 0 39 93 BRD7 29117 broad.mit.edu 37 16 50384019 50384019 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:50384019G>C uc002egf.1 - 6 573 c.506C>G c.(505-507)TCC>TGC p.S169C BRD7_uc002ege.1_Missense_Mutation_p.S169C NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 169 Bromo. cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) AATGATCATGGAGTAGCCAGG 0.328 NaN 0 0 0 0.014323 0 24 77 RSPRY1 89970 broad.mit.edu 37 16 57269103 57269103 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:57269103G>A uc002elb.2 + 14 1875 c.1597G>A c.(1597-1599)GAG>AAG p.E533K RSPRY1_uc002elc.2_Missense_Mutation_p.E533K|RSPRY1_uc002eld.2_Missense_Mutation_p.E533K NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 533 RING-type. extracellular region zinc ion binding ovary(1) 1 TTGTTGTGATGAGGTAGCAGA 0.403 NaN 0 0 0 0.00499 0 15 44 RSPRY1 89970 broad.mit.edu 37 16 57269112 57269112 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:57269112G>A uc002elb.2 + 14 1884 c.1606G>A c.(1606-1608)GAC>AAC p.D536N RSPRY1_uc002elc.2_Missense_Mutation_p.D536N|RSPRY1_uc002eld.2_Missense_Mutation_p.D536N NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 536 RING-type. extracellular region zinc ion binding ovary(1) 1 TGAGGTAGCAGACACACAATT 0.423 NaN 0 0 0 0.00245 0 12 43 ARL2BP 23568 broad.mit.edu 37 16 57283691 57283691 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:57283691G>A uc002elf.1 + 4 462 c.220G>A c.(220-222)GAA>AAA p.E74K ARL2BP_uc010vhl.1_Missense_Mutation_p.E74K NM_012106 NP_036238 Q9Y2Y0 AR2BP_HUMAN binder of Arl Two 74 E->A: Decreases interaction with ARL2. maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle protein binding|small GTPase regulator activity|transcription coactivator activity 0 TTCTTTGGTAGAAAAATACAT 0.418 NaN 0 0 0 0.012319 0 21 118 CNGB1 1258 broad.mit.edu 37 16 57918280 57918280 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:57918280C>T uc002emt.2 - 33 3609 c.3544G>A c.(3544-3546)GAC>AAC p.D1182N CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1182 Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GCGGGTGGGTCGGTGGCGGCC 0.721 NaN 0 0 0 0.006214 0 9 31 ZDHHC1 29800 broad.mit.edu 37 16 67428988 67428988 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:67428988G>C uc010vjm.1 - 10 1451 c.1147C>G c.(1147-1149)CAG>GAG p.Q383E TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank NM_013304 NP_037436 Q8WTX9 ZDHC1_HUMAN zinc finger, DHHC-type containing 1 383 integral to membrane DNA binding|zinc ion binding 0 Ovarian(137;0.223) UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022) GGGGGAGCCTGAGGGCCCCAC 0.617 NaN 0 0 0 0.000602 0 4 28 CTCF 10664 broad.mit.edu 37 16 67662356 67662356 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:67662356G>A uc002etl.2 + 9 1892 c.1602G>A c.(1600-1602)CAG>CAA p.Q534Q CTCF_uc010cek.2_Silent_p.Q206Q|CTCF_uc002etm.1_Silent_p.Q23Q NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 534 C2H2-type 10. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CCTTCCGCCAGAAGCAGCTTC 0.557 NaN 0 0 0 0.008361 0 29 87 VAC14 55697 broad.mit.edu 37 16 70817025 70817025 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:70817025C>G uc002ezm.2 - 7 980 c.722G>C c.(721-723)GGA>GCA p.G241A VAC14_uc010cfw.2_Missense_Mutation_p.G7A|VAC14_uc002ezn.2_Intron NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog 241 HEAT 4. interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) TAAGAATTCTCCAAGAACAAC 0.498 NaN 0 0 0 0.00623 0 36 109 CHST6 4166 broad.mit.edu 37 16 75512842 75512842 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:75512842G>A uc002fef.2 - 3 1065 c.885C>T c.(883-885)CTC>CTT p.L295L CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.L295L NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 295 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCTGTGGCGTGAGACTGAGCC 0.647 NaN 0 0 0 0.003163 0 14 58 PLCG2 5336 broad.mit.edu 37 16 81934316 81934316 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:81934316G>A uc002fgt.2 + 14 1445 c.1293G>A c.(1291-1293)ACG>ACA p.T431T PLCG2_uc010chg.1_Silent_p.T431T NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 431 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TGCTGTTGACGAAGCCCACGG 0.612 NaN 0 0 0 0.007413 0 19 54 SPG7 6687 broad.mit.edu 37 16 89598329 89598329 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:89598329C>G uc002fnj.2 + 8 1026 c.1005C>G c.(1003-1005)CTC>CTG p.L335L SPG7_uc002fni.2_Silent_p.L335L NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 335 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AACGCTTCCTCCAGCTTGGCG 0.532 NaN 0 0 0 0.001984 0 6 59 TUBB3 10381 broad.mit.edu 37 16 89998985 89998985 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr16:89998985G>A uc002fph.1 + 2 129 c.64G>A c.(64-66)GAA>AAA p.E22K TUBB3_uc002fpf.2_Missense_Mutation_p.E369K|TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_RNA|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 22 '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) GCAGTTCTGGGAAGTCATCAG 0.587 NaN 0 0 0 0.003163 0 14 53 TRPV3 162514 broad.mit.edu 37 17 3458046 3458046 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:3458046C>T uc002fvt.1 - 2 421 c.99G>A c.(97-99)GAG>GAA p.E33E TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Silent_p.E33E|TRPV3_uc002fvu.2_Silent_p.E33E NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 33 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) TGGGGGTGATCTCCGCCGGCC 0.657 NaN 0 0 0 0.008871 0 19 68 ALOX15 246 broad.mit.edu 37 17 4544957 4544957 + Translation_Start_Site SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:4544957G>C uc002fyh.2 - 1 4 c.-10C>G c.(-12--8)ATCTT>ATGTT ALOX15_uc010vsd.1_Translation_Start_Site|ALOX15_uc010vse.1_Missense_Mutation_p.S19C NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CTTGCTCAAAGATGTTTCGCT 0.612 NaN 0 0 0 0.00245 0 15 52 CAMTA2 23125 broad.mit.edu 37 17 4877697 4877697 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:4877697C>T uc002gah.1 - 12 2107 c.1999G>A c.(1999-2001)GAT>AAT p.D667N CAMTA2_uc010cku.1_Missense_Mutation_p.D690N|CAMTA2_uc002gag.1_Missense_Mutation_p.D666N|CAMTA2_uc002gai.1_Missense_Mutation_p.D669N|CAMTA2_uc010ckv.1_Missense_Mutation_p.D314N NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 667 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GGAGGAGCATCAGGACCCTGG 0.572 NaN 0 0 0 0.014323 0 21 103 KIF1C 10749 broad.mit.edu 37 17 4904541 4904541 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:4904541C>T uc002gan.1 + 5 534 c.208C>T c.(208-210)CAG>TAG p.Q70* NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 70 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GTTTGCATCTCAGCAGCAAGT 0.527 NaN 0 0 0 0.004289 0 35 117 KIF1C 10749 broad.mit.edu 37 17 4905849 4905849 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:4905849C>T uc002gan.1 + 7 846 c.520C>T c.(520-522)CTG>TTG p.L174L NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 174 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GCACCCCATCCTGGGCCCGTA 0.577 NaN 0 0 0 0.013114 0 46 174 KIF1C 10749 broad.mit.edu 37 17 4925875 4925875 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:4925875C>G uc002gan.1 + 22 2825 c.2499C>G c.(2497-2499)CTC>CTG p.L833L NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 833 Potential. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 TGGAGGACCTCCGGGCCCACA 0.672 NaN 0 0 0 0.000602 0 5 12 STX8 9482 broad.mit.edu 37 17 9448576 9448576 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:9448576C>T uc002glx.2 - 4 386 c.236G>A c.(235-237)AGA>AAA p.R79K NM_004853 NP_004844 Q9UNK0 STX8_HUMAN syntaxin 8 79 Cytoplasmic (Potential). transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1) 1 GAGGTTCTGTCTTCGGTCCCC 0.398 NaN 0 0 0 0.009535 0 26 102 DNAH9 1770 broad.mit.edu 37 17 11865486 11865486 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:11865486G>C uc002gne.2 + 68 13214 c.13146G>C c.(13144-13146)AAG>AAC p.K4382N DNAH9_uc010coo.2_Missense_Mutation_p.K3600N|DNAH9_uc002gnf.2_Missense_Mutation_p.K694N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4382 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACATGACGAAGAAGAACAGAG 0.547 NaN 0 0 0 0.010504 0 21 82 FLCN 201163 broad.mit.edu 37 17 17116970 17116970 + Nonstop_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:17116970C>G uc002gra.3 - 14 2243 c.1739G>C c.(1738-1740)TGA>TCA p.*580S PLD6_uc010cpn.2_Intron NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 580 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 TGTGACGGGTCAGTTCCGAGA 0.582 NaN Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 0 0 0 0.013726 0 33 104 ULK2 9706 broad.mit.edu 37 17 19689261 19689261 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:19689261C>G uc002gwm.3 - 21 2749 c.2240G>C c.(2239-2241)AGA>ACA p.R747T ULK2_uc002gwn.2_Missense_Mutation_p.R747T NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 747 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TGAGGTTGTTCTTGTTCGAAG 0.408 NaN 0 0 0 0.007413 0 18 58 KIAA0100 9703 broad.mit.edu 37 17 26945942 26945942 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:26945942C>T uc002hbu.2 - 32 5789 c.5690G>A c.(5689-5691)CGA>CAA p.R1897Q KIAA0100_uc002hbt.2_Missense_Mutation_p.R226Q NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1897 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TTGCTGCTTTCGCAGCTCCAT 0.527 NaN 0 0 0 0.014323 0 18 71 CORO6 84940 broad.mit.edu 37 17 27945892 27945892 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:27945892C>T uc002hel.2 - 4 551 c.549G>A c.(547-549)TGG>TGA p.W183* CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 183 WD 3. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CGTTGCTGTTCCAGCACACAC 0.577 NaN 0 0 0 0.014323 0 24 75 RAB11FIP4 84440 broad.mit.edu 37 17 29850554 29850554 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:29850554C>A uc002hgn.1 + 8 1183 c.954C>A c.(952-954)TTC>TTA p.F318L RAB11FIP4_uc002hgo.2_Missense_Mutation_p.F216L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 318 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GCAGCAACTTCAGCAGCAGCA 0.602 NaN 1 0 6.84511e-11 0.003271 7.02684e-11 34 113 SPACA3 124912 broad.mit.edu 37 17 31318969 31318969 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:31318969C>T uc002hhs.1 + 1 88 c.13C>T c.(13-15)CTG>TTG p.L5L SPACA3_uc010cte.1_5'Flank NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 5 Cytoplasmic (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) GGTCTCAGCTCTGCGGGGAGC 0.607 NaN 0 0 0 0.00308 0 4 33 UNC45B 146862 broad.mit.edu 37 17 33507615 33507615 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:33507615G>A uc002hja.2 + 18 2396 c.2299G>A c.(2299-2301)GAG>AAG p.E767K UNC45B_uc002hjb.2_Missense_Mutation_p.E765K|UNC45B_uc002hjc.2_Missense_Mutation_p.E765K|UNC45B_uc010cto.2_Missense_Mutation_p.E686K NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 767 ARM 3. cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GCCAGACATCGAGAACTACAT 0.547 NaN 0 0 0 0.004007 0 15 66 CCL3 6348 broad.mit.edu 37 17 34416051 34416051 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:34416051C>G uc002hkv.2 - 3 348 c.246G>C c.(244-246)CAG>CAC p.Q82H NM_002983 NP_002974 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 82 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGACATATTTCTGGACCCACT 0.617 NaN 0 0 0 0.010771 0 43 161 DUSP14 11072 broad.mit.edu 37 17 35872727 35872727 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:35872727C>G uc002hnx.2 + 3 647 c.353C>G c.(352-354)TCA>TGA p.S118* DUSP14_uc002hny.2_Nonsense_Mutation_p.S105*|DUSP14_uc002hnz.2_Nonsense_Mutation_p.S105* NM_007026 NP_008957 O95147 DUS14_HUMAN dual specificity phosphatase 14 118 Tyrosine-protein phosphatase. MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Breast(25;0.00637)|Ovarian(249;0.15) GTGAGCCGCTCAGCCACGCTG 0.592 NaN 0 0 0 0.003163 0 13 63 CDK12 51755 broad.mit.edu 37 17 37618767 37618767 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:37618767C>T uc010cvv.2 + 1 1029 c.443C>T c.(442-444)TCG>TTG p.S148L CDK12_uc010wef.1_Missense_Mutation_p.S148L|CDK12_uc002hrw.3_Missense_Mutation_p.S148L NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 148 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 GACCGGATATCGGGAAGTTCA 0.502 NaN TCGA Ovarian(9;0.13) 0 0 0 0.008871 0 21 77 ERBB2 2064 broad.mit.edu 37 17 37884259 37884259 + Missense_Mutation SNP G G C rs144533600 by1000genomes TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:37884259G>C uc002hso.2 + 27 3968 c.3730G>C c.(3730-3732)GAG>CAG p.E1244Q ERBB2_uc002hsm.2_Missense_Mutation_p.E1214Q|ERBB2_uc010cwa.2_Missense_Mutation_p.E1229Q|ERBB2_uc002hsp.2_Missense_Mutation_p.E1047Q|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.E968Q NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 1244 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACCTACGGCAGAGAACCCAGA 0.607 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.003954 0 22 66 CASC3 22794 broad.mit.edu 37 17 38319905 38319905 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:38319905C>T uc010cwt.1 + 7 1252 c.957C>T c.(955-957)TTC>TTT p.F319F CASC3_uc010cws.1_Silent_p.F319F|CASC3_uc002hue.2_Silent_p.F319F NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 319 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 CTGGGGGCTTCAAGGAAGGTC 0.547 NaN 0 0 0 0.01441 0 96 330 RARA 5914 broad.mit.edu 37 17 38512341 38512341 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:38512341G>A uc002huk.1 + 9 1707 c.1252G>A c.(1252-1254)GAG>AAG p.E418K RARA_uc002hul.3_Missense_Mutation_p.E418K|RARA_uc010wfe.1_Missense_Mutation_p.E321K|RARA_uc002hun.1_Missense_Mutation_p.E413K NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 418 Ligand-binding.|Required for binding corepressor NCOR1. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GGAGAACTCAGAGGGCCTGGA 0.617 NaN T PML|ZNF145|TIF1|NUMA1|NPM1 APL 0 0 0 0.004672 0 3 20 CCR7 1236 broad.mit.edu 37 17 38711549 38711549 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:38711549G>C uc002huw.2 - 3 645 c.582C>G c.(580-582)CTC>CTG p.L194L NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 194 Extracellular (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) CACTGTACAGGAGCTCTGGGA 0.582 NaN 0 0 0 0.012319 0 20 34 KRT31 3881 broad.mit.edu 37 17 39550344 39550344 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:39550344G>C uc002hwn.2 - 7 1228 c.1175C>G c.(1174-1176)TCT>TGT p.S392C KRT31_uc010cxn.2_3'UTR NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 392 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) AGGGACACAAGAGGTACAGGG 0.612 NaN 0 0 0 0.010818 0 33 108 DHX58 79132 broad.mit.edu 37 17 40260106 40260106 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:40260106C>T uc002hyw.3 - 7 922 c.699G>A c.(697-699)CTG>CTA p.L233L DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.L226L NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 233 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TGAGCTTCTTCAGCAAGTCCC 0.562 NaN 0 0 0 0.007413 0 17 70 GHDC 84514 broad.mit.edu 37 17 40345373 40345373 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:40345373C>T uc002hzd.2 - 2 711 c.227G>A c.(226-228)GGA>GAA p.G76E GHDC_uc002hzg.1_Missense_Mutation_p.G76E|GHDC_uc010wgg.1_Missense_Mutation_p.G76E|GHDC_uc002hze.3_Missense_Mutation_p.G76E|GHDC_uc002hzf.3_Missense_Mutation_p.G76E|GHDC_uc010cxz.2_RNA NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN LGP1 homolog isoform 1 76 endoplasmic reticulum|nuclear envelope 0 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GCGCTGGGCTCCCTGTAGACA 0.647 NaN 0 0 0 0.001168 0 4 12 ATP6V0A1 535 broad.mit.edu 37 17 40622219 40622219 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:40622219C>A uc002hzr.2 + 5 573 c.406C>A c.(406-408)CAG>AAG p.Q136K ATP6V0A1_uc002hzq.2_Missense_Mutation_p.Q136K|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.Q136K|ATP6V0A1_uc010wgj.1_Intron|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_5'UTR|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.Q136K NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 136 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCGCAAAACTCAGCAATTTTT 0.338 NaN 1 0 5.18039e-06 0.00308 5.2655e-06 8 37 MLX 6945 broad.mit.edu 37 17 40722180 40722180 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:40722180C>G uc002iag.2 + 7 884 c.819C>G c.(817-819)ATC>ATG p.I273M MLX_uc002iaf.2_Missense_Mutation_p.I219M|MLX_uc002iah.2_Missense_Mutation_p.I189M NM_170607 NP_733752 Q9UH92 MLX_HUMAN transcription factor-like protein 4 isoform 273 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) TCAGCTGGATCGAGGAGCACT 0.532 NaN 0 0 0 0.010729 0 11 66 ARL4D 379 broad.mit.edu 37 17 41477529 41477529 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:41477529G>A uc002idt.2 + 2 610 c.429G>A c.(427-429)CTG>CTA p.L143L NM_001661 NP_001652 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 143 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1) 1 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) CCGGGGCACTGAGCGCTGCTG 0.657 NaN 0 0 0 0.001168 0 6 11 ITGB3 3690 broad.mit.edu 37 17 45384893 45384893 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:45384893C>G uc002ilj.2 + 14 2211 c.2191C>G c.(2191-2193)CTG>GTG p.L731V ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 731 Helical; (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) GGGGGCCATTCTGCTCATTGG 0.547 NaN 0 0 0 0.006122 0 18 53 SKAP1 8631 broad.mit.edu 37 17 46239837 46239837 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:46239837C>G uc002ini.1 - 11 1084 c.972G>C c.(970-972)CTG>CTC p.L324L SKAP1_uc002inj.1_Silent_p.L323L|SKAP1_uc010dbd.1_Silent_p.L229L|SKAP1_uc010dbe.1_Silent_p.L324L NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 324 SH3. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 TTACCTTGCTCAGAATACGGA 0.433 NaN 0 0 0 0.006214 0 10 43 SFRS1 6426 broad.mit.edu 37 17 56083263 56083263 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:56083263C>G uc002ivi.2 - 3 660 c.451G>C c.(451-453)GAT>CAT p.D151H SFRS1_uc002ivj.2_Missense_Mutation_p.D151H NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 151 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) CGGTAAACATCAGCATAACAT 0.403 NaN 0 0 0 0.006122 0 17 87 HEATR6 63897 broad.mit.edu 37 17 58156203 58156203 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:58156203C>G uc002iyk.1 - 1 90 c.73G>C c.(73-75)GAG>CAG p.E25Q NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 25 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TTGCCTCGCTCAGGGATTGCT 0.662 NaN 0 0 0 0.000602 0 4 19 MED13 9969 broad.mit.edu 37 17 60072581 60072581 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:60072581C>T uc002izo.2 - 10 2190 c.2113G>A c.(2113-2115)GAG>AAG p.E705K NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 705 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 AGGAATTCCTCATCTCCTTCA 0.358 NaN 0 0 0 0.01441 0 51 118 CCDC47 57003 broad.mit.edu 37 17 61842116 61842116 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:61842116G>A uc002jbs.3 - 3 692 c.356C>T c.(355-357)CCA>CTA p.P119L CCDC47_uc010ddx.2_Missense_Mutation_p.P119L|CCDC47_uc002jbt.2_Missense_Mutation_p.P119L NM_020198 NP_064583 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 precursor 119 integral to membrane protein binding 0 AATCGTTATTGGGTCTTTATT 0.338 NaN 0 0 0 0.012213 0 32 96 TEX2 55852 broad.mit.edu 37 17 62290676 62290676 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:62290676G>C uc002jec.2 - 2 1075 c.902C>G c.(901-903)CCT>CGT p.P301R TEX2_uc002jed.2_Missense_Mutation_p.P301R|TEX2_uc002jee.2_Missense_Mutation_p.P301R NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 301 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GAGCTGAAAAGGCTCATAGAT 0.433 NaN 0 0 0 0.012319 0 22 55 POLG2 11232 broad.mit.edu 37 17 62493011 62493011 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:62493011C>G uc002jei.2 - 1 159 c.76G>C c.(76-78)GAT>CAT p.D26H POLG2_uc010deg.1_Missense_Mutation_p.D26H NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 26 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) TGCCCCGCATCTACTCGACCC 0.612 NaN 0 0 0 0.009718 0 39 109 SLC16A6 9120 broad.mit.edu 37 17 66270075 66270075 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:66270075G>A uc002jgz.1 - 3 557 c.369C>T c.(367-369)ATC>ATT p.I123I ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.I123I NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 123 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TACCAGAGATGATGCCGATGG 0.483 NaN 0 0 0 0.008871 0 17 49 ABCA8 10351 broad.mit.edu 37 17 66914280 66914280 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:66914280C>G uc002jhp.2 - 14 2014 c.1835G>C c.(1834-1836)AGA>ACA p.R612T ABCA8_uc002jhq.2_Missense_Mutation_p.R652T|ABCA8_uc010wqq.1_Missense_Mutation_p.R652T|ABCA8_uc010wqr.1_Missense_Mutation_p.R591T|ABCA8_uc002jhr.2_Missense_Mutation_p.R652T NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 612 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TACTTGGTGTCTTGAAAAGGG 0.458 NaN 0 0 0 0.004007 0 16 71 ABCA10 10349 broad.mit.edu 37 17 67187420 67187420 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:67187420G>C uc010dfa.1 - 18 2787 c.1908C>G c.(1906-1908)ATC>ATG p.I636M ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.I237M NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 636 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TAAGGGATGTGATTTTTTCTG 0.338 NaN 0 0 0 0.014323 0 23 68 OTOP2 92736 broad.mit.edu 37 17 72929594 72929594 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:72929594G>A uc010wrp.1 + 8 1732 c.1643G>A c.(1642-1644)CGC>CAC p.R548H OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 548 integral to membrane p.R548C(1) ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) ATCTTCTACCGCATGCACGCT 0.607 NaN 0 0 0 0.00632 0 29 88 C17orf28 283987 broad.mit.edu 37 17 72948414 72948414 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:72948414C>T uc002jmj.3 - 17 2243 c.2094G>A c.(2092-2094)ATG>ATA p.M698I C17orf28_uc002jmi.2_Missense_Mutation_p.M100I|C17orf28_uc010wrs.1_Missense_Mutation_p.M497I NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 698 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) GCAGCAGCCTCATGATGGTCT 0.498 NaN 0 0 0 0.00499 0 10 21 TK1 7083 broad.mit.edu 37 17 76171137 76171137 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:76171137C>T uc002juw.2 - 6 717 c.507G>A c.(505-507)GAG>GAA p.E169E TK1_uc002jux.2_Silent_p.E211E NM_003258 NP_003249 P04183 KITH_HUMAN thymidine kinase 1 169 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) CTACCTCCTTCTCTGTGCCGA 0.662 NaN 0 0 0 0.001855 0 12 18 TK1 7083 broad.mit.edu 37 17 76171139 76171139 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:76171139C>T uc002juw.2 - 6 715 c.505G>A c.(505-507)GAG>AAG p.E169K TK1_uc002jux.2_Missense_Mutation_p.E211K NM_003258 NP_003249 P04183 KITH_HUMAN thymidine kinase 1 169 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) ACCTCCTTCTCTGTGCCGAGC 0.657 NaN 0 0 0 0.001855 0 12 18 RNF213 57674 broad.mit.edu 37 17 78353431 78353431 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:78353431G>A uc002jyh.1 + 30 7999 c.7776G>A c.(7774-7776)CCG>CCA p.P2592P uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.P974P NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTGGCAGGCCGATGGAACAGA 0.502 NaN 0 0 0 0.00623 0 26 93 SLC38A10 124565 broad.mit.edu 37 17 79226054 79226054 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:79226054C>A uc002jzz.1 - 13 2261 c.1886G>T c.(1885-1887)GGA>GTA p.G629V SLC38A10_uc002jzy.1_Missense_Mutation_p.G547V|SLC38A10_uc002kab.2_Missense_Mutation_p.G629V NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 629 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TGGCGGCGGTCCCCCCTTGGC 0.711 NaN 1 0 7.45023e-12 0.010504 7.66498e-12 20 64 RAB40B 10966 broad.mit.edu 37 17 80616472 80616472 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr17:80616472C>G uc002kft.2 - 5 586 c.460G>C c.(460-462)GAG>CAG p.E154Q RAB40B_uc002kfs.2_RNA NM_006822 NP_006813 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 154 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1) 1 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GGGCTGACCTCAAAGAAGGTC 0.652 NaN 0 0 0 0.003271 0 34 82 METTL4 64863 broad.mit.edu 37 18 2547371 2547371 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:2547371C>G uc002klh.3 - 6 1837 c.1057G>C c.(1057-1059)GAG>CAG p.E353Q METTL4_uc010dkj.2_Missense_Mutation_p.E150Q NM_022840 NP_073751 Q8N3J2 METL4_HUMAN methyltransferase like 4 353 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding kidney(1)|skin(1) 2 CAGTGCCACTCAGCAACTACC 0.388 NaN 0 0 0 0.013726 0 34 93 EMILIN2 84034 broad.mit.edu 37 18 2892354 2892354 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:2892354G>A uc002kln.2 + 4 2388 c.2229G>A c.(2227-2229)CAG>CAA p.Q743Q NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 743 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) GTGTCAGGCAGATGAACGGAA 0.493 NaN 0 0 0 0.008871 0 20 61 DLGAP1 9229 broad.mit.edu 37 18 3508616 3508616 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:3508616G>C uc002kmf.2 - 8 2590 c.2523C>G c.(2521-2523)CTC>CTG p.L841L DLGAP1_uc010wyz.1_Silent_p.L841L|DLGAP1_uc002kme.1_Silent_p.L539L|DLGAP1_uc010dkn.2_Silent_p.L549L|DLGAP1_uc010wyw.1_Silent_p.L547L|DLGAP1_uc010wyx.1_Silent_p.L563L|DLGAP1_uc010wyy.1_Silent_p.L525L|DLGAP1_uc002kmg.2_Silent_p.L539L NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 841 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) TCTGGGCCATGAGAAGTTGGG 0.433 NaN 0 0 0 0.006122 0 15 60 LAMA1 284217 broad.mit.edu 37 18 7023260 7023260 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:7023260C>T uc002knm.2 - 19 2698 c.2604G>A c.(2602-2604)GGG>GGA p.G868G LAMA1_uc010wzj.1_Silent_p.G344G NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 868 Laminin EGF-like 8. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGGCACTCCCCGGTGACTG 0.602 NaN 0 0 0 0.013537 0 13 47 ANKRD12 23253 broad.mit.edu 37 18 9255144 9255144 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:9255144G>A uc002knv.2 + 9 2136 c.1879G>A c.(1879-1881)GAA>AAA p.E627K ANKRD12_uc002knw.2_Missense_Mutation_p.E604K|ANKRD12_uc002knx.2_Missense_Mutation_p.E604K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E334K NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 627 nucleus ovary(2)|central_nervous_system(1) 3 AATAAAGGATGAAGATCATAG 0.184 NaN 0 0 0 0.00632 0 30 88 ROCK1 6093 broad.mit.edu 37 18 18549123 18549123 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:18549123C>G uc002kte.2 - 24 3808 c.2867G>C c.(2866-2868)AGA>ACA p.R956T NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 956 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) ATTCTCTCTTCTTAATATTTC 0.323 NaN 0 0 0 0.008871 0 19 49 MEP1B 4225 broad.mit.edu 37 18 29795197 29795197 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:29795197G>A uc002kxj.3 + 12 1779 c.1732G>A c.(1732-1734)GAT>AAT p.D578N NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 578 Extracellular (Potential).|MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 AAAAGGAGATGATGTTTATAT 0.348 NaN 0 0 0 0.004672 0 3 40 NOL4 8715 broad.mit.edu 37 18 31709969 31709969 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:31709969C>G uc010dmi.2 - 2 509 c.280G>C c.(280-282)GAT>CAT p.D94H NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Missense_Mutation_p.D20H|NOL4_uc010dmh.2_Missense_Mutation_p.D20H|NOL4_uc010xbu.1_Missense_Mutation_p.D94H|NOL4_uc002kxt.3_Missense_Mutation_p.D94H|NOL4_uc010xbw.1_5'UTR NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 94 nucleolus RNA binding ovary(3) 3 AGCTTCTCATCTACCCCTACG 0.353 NaN 0 0 0 0.007413 0 18 56 ZNF397OS 100101467 broad.mit.edu 37 18 32833853 32833853 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:32833853C>T uc002kym.2 - 4 1274 c.1046G>A c.(1045-1047)AGA>AAA p.R349K ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_5'Flank|ZNF397OS_uc010xce.1_Missense_Mutation_p.R349K NM_001112734 NP_001106205 Q86W11 ZSC30_HUMAN zinc finger protein 397 opposite strand 349 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACTATGAATTCTCTGATGTCT 0.438 NaN 0 0 0 0.013726 0 33 138 ATP5A1 498 broad.mit.edu 37 18 43669842 43669842 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:43669842C>T uc002lbr.1 - 4 520 c.430G>A c.(430-432)GAG>AAG p.E144K ATP5A1_uc010dnl.1_Missense_Mutation_p.E94K|ATP5A1_uc002lbs.1_Missense_Mutation_p.E94K|ATP5A1_uc002lbt.1_Missense_Mutation_p.E144K|ATP5A1_uc010xct.1_Missense_Mutation_p.E94K|ATP5A1_uc010dnm.1_RNA NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 144 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 AACAGCTCCTCACCAACTGGA 0.418 NaN 0 0 0 0.008871 0 19 78 SMAD2 4087 broad.mit.edu 37 18 45368266 45368266 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:45368266G>C uc002lcy.2 - 11 1584 c.1336C>G c.(1336-1338)CTA>GTA p.L446V SMAD2_uc002lcz.2_Missense_Mutation_p.L446V|SMAD2_uc010xdc.1_Missense_Mutation_p.L416V NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 446 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 AACCACTGTAGAGGTCCATTC 0.408 NaN 0 0 0 0.008871 0 20 72 SMAD4 4089 broad.mit.edu 37 18 48591846 48591846 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr18:48591846G>A uc010xdp.1 + 9 1547 c.1009G>A c.(1009-1011)GAG>AAG p.E337K SMAD4_uc002lfb.3_Missense_Mutation_p.E182K NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 337 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2)|p.E337E(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCAGGTAGGAGAGACATTTAA 0.418 NaN Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.01441 0 45 121 PRTN3 5657 broad.mit.edu 37 19 847830 847830 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:847830G>A uc002lqa.1 + 5 656 c.632G>A c.(631-633)GGC>GAC p.G211D NM_002777 NP_002768 P24158 PRTN3_HUMAN myeloblastin 211 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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) ATCTGTGATGGCATCATCCAA 0.612 NaN 0 0 0 0.009096 0 3 30 SBNO2 22904 broad.mit.edu 37 19 1111584 1111584 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:1111584G>A uc002lrk.3 - 24 2968 c.2730C>T c.(2728-2730)CTC>CTT p.L910L SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.L853L|SBNO2_uc010dse.2_Silent_p.L893L|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 910 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GGATGGTGGTGAGGACACAGT 0.662 NaN 0 0 0 0.004672 0 3 9 AP3D1 8943 broad.mit.edu 37 19 2116613 2116613 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:2116613C>T uc002luz.2 - 17 2215 c.1992G>A c.(1990-1992)GAG>GAA p.E664E AP3D1_uc002luy.2_Silent_p.E573E|AP3D1_uc002lva.2_Silent_p.E664E NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 664 Potential. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 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) CCCGAGCCAGCTCTTCCTCGT 0.692 NaN 0 0 0 0.001168 0 4 9 MCOLN1 57192 broad.mit.edu 37 19 7591755 7591755 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:7591755C>T uc002mgo.2 + 4 639 c.514C>T c.(514-516)CGA>TGA p.R172* MCOLN1_uc002mgp.2_Silent_p.T58T NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN mucolipin 1 172 ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242). calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(1) 1 GTACTACCACCGAGGCCACGT 0.607 NaN 0 0 0 0.005443 0 24 99 TIMM44 10469 broad.mit.edu 37 19 8000015 8000015 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:8000015C>G uc002miz.2 - 4 330 c.328G>C c.(328-330)GAA>CAA p.E110Q TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 110 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 CGCACGGTTTCTGACTCGATG 0.423 NaN 0 0 0 0.00308 0 8 17 MARCH2 51257 broad.mit.edu 37 19 8503337 8503337 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:8503337G>A uc002mjv.2 + 6 1089 c.648G>A c.(646-648)CTG>CTA p.L216L MARCH2_uc002mjw.2_Silent_p.L216L|MARCH2_uc002mjx.2_Silent_p.L146L NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2 216 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 AAGTTCGCCTGAAGATCCGGG 0.617 NaN 0 0 0 0.007291 0 30 75 MUC16 94025 broad.mit.edu 37 19 8999056 8999056 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:8999056G>A uc002mkp.2 - 57 40992 c.40788C>T c.(40786-40788)TTC>TTT p.F13596F MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F413F|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13598 Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCGCTGTGTGAAACCTGCAT 0.537 NaN 0 0 0 0.001168 0 6 20 ZNF562 54811 broad.mit.edu 37 19 9767306 9767306 + Missense_Mutation SNP C C T rs140829241 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:9767306C>T uc010xks.1 - 5 428 c.265G>A c.(265-267)GAA>AAA p.E89K ZNF562_uc002mly.2_Missense_Mutation_p.E89K|ZNF562_uc002mlx.2_Missense_Mutation_p.E17K|ZNF562_uc010xkt.1_Missense_Mutation_p.E52K|ZNF562_uc010xku.1_Missense_Mutation_p.E20K|ZNF562_uc010xkv.1_Missense_Mutation_p.E89K|ZNF562_uc010xkw.1_5'UTR NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 89 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTCCCATTCTGAAGTTAAG 0.328 NaN 0 0 0 0.010771 0 44 120 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221062 10221062 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:10221062G>A uc002mna.2 + 9 885 c.885G>A c.(883-885)GTG>GTA p.V295V PPAN-P2RY11_uc010xla.1_Silent_p.V295V|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.V295V|PPAN_uc002mnb.1_Silent_p.V242V NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 295 RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) AGGGCAAAGTGATGTTCCACA 0.657 NaN 0 0 0 0.003163 0 14 31 ATG4D 84971 broad.mit.edu 37 19 10657634 10657634 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:10657634G>A uc002mov.2 + 4 733 c.613G>A c.(613-615)GAG>AAG p.E205K ATG4D_uc010xlg.1_Missense_Mutation_p.E228K|ATG4D_uc010xlh.1_Missense_Mutation_p.E142K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 205 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GGGTGCCCCTGAGCTGGAGCA 0.716 NaN 0 0 0 0.004482 0 9 15 ATG4D 84971 broad.mit.edu 37 19 10663639 10663639 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:10663639G>T uc002mov.2 + 10 1441 c.1321G>T c.(1321-1323)GAC>TAC p.D441Y ATG4D_uc010xlh.1_Missense_Mutation_p.D378Y|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.D108Y NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 441 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCACAGCCTGGACGACCTCTG 0.657 NaN 1 0 1.43246e-33 0.007835 1.49868e-33 34 96 AP1M2 10053 broad.mit.edu 37 19 10692042 10692042 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:10692042C>T uc002mpc.2 - 6 657 c.573G>A c.(571-573)CTG>CTA p.L191L AP1M2_uc002mpd.2_Silent_p.L191L NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 191 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(2) 2 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CGATTTCGCTCAGAAGGACGC 0.592 NaN OREG0025241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 14 30 FBXW9 84261 broad.mit.edu 37 19 12805444 12805444 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:12805444G>C uc010dyx.2 - 3 612 c.612C>G c.(610-612)ATC>ATG p.I204M FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.I214M|FBXW9_uc002mun.1_Missense_Mutation_p.I51M NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 214 protein binding ovary(1) 1 CTAAGGTCTTGATCAGAACCT 0.498 NaN 0 0 0 0.001984 0 5 52 CACNA1A 773 broad.mit.edu 37 19 13409682 13409682 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:13409682C>T uc010dze.2 - 19 3004 c.2768G>A c.(2767-2769)CGA>CAA p.R923Q CACNA1A_uc010dzc.2_Missense_Mutation_p.R448Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R922Q|CACNA1A_uc010xne.1_Missense_Mutation_p.R451Q NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 923 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.R923Q(1) large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGCCTTGCCTCGCTCGGCCTC 0.776 NaN 0 0 0 0.001984 0 6 21 LPHN1 22859 broad.mit.edu 37 19 14269281 14269281 + Missense_Mutation SNP C C T rs146726289 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:14269281C>T uc010xnn.1 - 13 2544 c.2248G>A c.(2248-2250)GAA>AAA p.E750K LPHN1_uc010xno.1_Missense_Mutation_p.E745K|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 750 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 GGGCCTGCTTCGCCGGCCAGC 0.597 NaN 0 0 0 0.003163 0 16 45 OR7A5 26659 broad.mit.edu 37 19 14938601 14938601 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:14938601C>G uc002mzw.2 - 1 676 c.453G>C c.(451-453)ATG>ATC p.M151I OR7A5_uc010xoa.1_Missense_Mutation_p.M151I NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 ACAGAGCACTCATGGTCCAGG 0.488 NaN 0 0 0 0.012319 0 23 55 C19orf44 84167 broad.mit.edu 37 19 16611956 16611956 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:16611956C>G uc002neh.1 + 2 426 c.353C>G c.(352-354)TCT>TGT p.S118C MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S118C|C19orf44_uc002neg.2_Missense_Mutation_p.S118C|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 118 0 GACACGGAATCTGACTCAATG 0.552 NaN 0 0 0 0.010771 0 44 97 F2RL3 9002 broad.mit.edu 37 19 17000940 17000940 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:17000940C>T uc002nfa.2 + 2 841 c.666C>T c.(664-666)CGC>CGT p.R222R NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 222 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 GGCTGGCGCGCTCCGATCGCG 0.706 NaN 0 0 0 0.004482 0 8 18 MPV17L2 84769 broad.mit.edu 37 19 18305832 18305832 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:18305832G>C uc002nid.2 + 4 552 c.500G>C c.(499-501)CGA>CCA p.R167P MPV17L2_uc010ebj.2_Silent_p.S77S NM_032683 NP_116072 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 167 integral to membrane 0 CCCCAATTTCGAGTCACCTAC 0.502 NaN 0 0 0 0.012213 0 26 96 CILP2 148113 broad.mit.edu 37 19 19651906 19651906 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:19651906C>G uc002nmv.3 + 4 528 c.443C>G c.(442-444)TCG>TGG p.S148W CILP2_uc002nmw.3_Missense_Mutation_p.S154W NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 148 TSP type-1. proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GCAGAAGCCTCGTGGGGCGCG 0.716 NaN 0 0 0 0.000602 0 5 3 ZNF507 22847 broad.mit.edu 37 19 32844356 32844356 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:32844356G>T uc002nte.2 + 3 892 c.620G>T c.(619-621)AGA>ATA p.R207I ZNF507_uc002ntc.2_Missense_Mutation_p.R207I|ZNF507_uc010xrn.1_Missense_Mutation_p.R207I|ZNF507_uc002ntd.2_Missense_Mutation_p.R207I NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) ACCACAGAAAGAAATGAAACC 0.458 NaN 1 0 3.5997e-14 0.014323 3.71169e-14 24 64 KIRREL2 84063 broad.mit.edu 37 19 36349402 36349402 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:36349402G>A uc002ocb.3 + 3 516 c.304G>A c.(304-306)GAA>AAA p.E102K KIRREL2_uc002obz.3_Missense_Mutation_p.E102K|KIRREL2_uc002oca.3_Missense_Mutation_p.E52K|KIRREL2_uc002occ.3_Missense_Mutation_p.E49K|KIRREL2_uc002ocd.3_Missense_Mutation_p.E99K NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 102 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCATCATATGAATGTCAGGC 0.592 NaN 0 0 0 0.008871 0 20 98 KIRREL2 84063 broad.mit.edu 37 19 36349660 36349660 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:36349660G>C uc002ocb.3 + 4 628 c.416G>C c.(415-417)GGA>GCA p.G139A KIRREL2_uc002obz.3_Missense_Mutation_p.G139A|KIRREL2_uc002oca.3_Missense_Mutation_p.G89A|KIRREL2_uc002occ.3_Missense_Mutation_p.G86A|KIRREL2_uc002ocd.3_Missense_Mutation_p.G136A NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 139 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGGTTGCTGGAGTTCCTGCG 0.617 NaN 0 0 0 0.004289 0 34 118 ZNF461 92283 broad.mit.edu 37 19 37130933 37130933 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:37130933C>G uc002oem.2 - 6 542 c.314G>C c.(313-315)AGA>ACA p.R105T ZNF461_uc002oen.2_Missense_Mutation_p.R74T|ZNF461_uc010xtj.1_Missense_Mutation_p.R82T NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGGCTCATCTCTGGATGCCAA 0.343 NaN 0 0 0 0.014323 0 23 83 GGN 199720 broad.mit.edu 37 19 38877342 38877342 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:38877342C>T uc002oij.1 - 3 695 c.560G>A c.(559-561)AGA>AAA p.R187K GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.R104K NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 187 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGAGTGATTCTGCGGTCCGC 0.692 NaN 0 0 0 0.000602 0 4 7 RYR1 6261 broad.mit.edu 37 19 39008108 39008108 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:39008108G>A uc002oit.2 + 66 9925 c.9795G>A c.(9793-9795)GAG>GAA p.E3265E RYR1_uc002oiu.2_Silent_p.E3265E|RYR1_uc002oiv.1_Silent_p.E185E|RYR1_uc010xuf.1_Silent_p.E185E NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3265 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTACACAGAGATGCCGCATG 0.672 NaN 0 0 0 0.004007 0 16 45 RYR1 6261 broad.mit.edu 37 19 39061261 39061261 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:39061261G>A uc002oit.2 + 94 13804 c.13674G>A c.(13672-13674)CGG>CGA p.R4558R RYR1_uc002oiu.2_Silent_p.R4553R NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4558 R -> Q (in CCD; autosomal recessive form). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCTGTCCCGGAACTTTTACA 0.483 NaN 0 0 0 0.009718 0 39 144 HNRNPUL1 11100 broad.mit.edu 37 19 41770632 41770632 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:41770632C>T uc002oqb.3 + 1 513 c.224C>T c.(223-225)ACC>ATC p.T75I CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.T75I|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 75 Necessary for interaction with HRMT1L1. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CTGGAGGGGACCGCGCAGCCA 0.766 NaN 0 0 0 0.000602 0 4 3 EXOSC5 56915 broad.mit.edu 37 19 41892596 41892596 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:41892596G>C uc002oqo.2 - 6 673 c.650C>G c.(649-651)TCG>TGG p.S217W CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN exosome component Rrp46 217 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 GACGTGTTGCGAAGCGGCCTG 0.662 NaN 0 0 0 0.000602 0 5 9 PSG3 5671 broad.mit.edu 37 19 43233301 43233301 + Missense_Mutation SNP G G C rs141177217 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:43233301G>C uc002oue.2 - 5 1349 c.1217C>G c.(1216-1218)TCC>TGC p.S406C PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.S406C|PSG3_uc010eil.2_Missense_Mutation_p.S428C NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 406 Ig-like C2-type 3. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CATGGATTTGGAGCTTTCCAT 0.473 NaN 0 0 0 0.01441 0 67 259 LYPD5 284348 broad.mit.edu 37 19 44301925 44301925 + Missense_Mutation SNP C C T rs114185213 by1000genomes TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:44301925C>T uc002oxm.3 - 5 655 c.574G>A c.(574-576)GAG>AAG p.E192K LYPD5_uc002oxn.3_Missense_Mutation_p.E149K NM_001031749 NP_001026919 Q6UWN5 LYPD5_HUMAN LY6/PLAUR domain containing 5 isoform A 192 UPAR/Ly6. anchored to membrane|plasma membrane 0 Prostate(69;0.0352) GTGGTGCCCTCGGTGGTGCAG 0.612 NaN 0 0 0 0.008291 0 11 57 ZNF222 7673 broad.mit.edu 37 19 44537161 44537161 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:44537161C>G uc002oyc.2 + 4 1517 c.1334C>G c.(1333-1335)TCA>TGA p.S445* ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.S485*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.S391* NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) ATAATTTTATCAttattttta 0.219 NaN 0 0 0 0.001168 0 6 31 ZNF227 7770 broad.mit.edu 37 19 44739461 44739461 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:44739461G>A uc002oyu.2 + 6 1083 c.878G>A c.(877-879)GGA>GAA p.G293E ZNF227_uc010xwu.1_Missense_Mutation_p.G242E|ZNF227_uc002oyv.2_Missense_Mutation_p.G293E|ZNF227_uc010xwv.1_Missense_Mutation_p.G242E|ZNF227_uc010xww.1_Missense_Mutation_p.G214E|ZNF227_uc002oyw.2_Missense_Mutation_p.G265E|ZNF227_uc010ejh.2_Missense_Mutation_p.G286E|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) ATTCACCCAGGAGAGAAACTC 0.398 NaN 0 0 0 0.00499 0 18 43 NKPD1 284353 broad.mit.edu 37 19 45655522 45655522 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:45655522G>A uc010xxi.1 - 4 2173 c.2173C>T c.(2173-2175)CTG>TTG p.L725L NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) TCGGCGCCCAGGAAGCGCTCG 0.672 NaN 0 0 0 0.001168 0 5 11 KCNJ14 3770 broad.mit.edu 37 19 48967834 48967834 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:48967834G>C uc002pje.1 + 3 1516 c.1111G>C c.(1111-1113)GAG>CAG p.E371Q KCNJ14_uc002pjf.1_Missense_Mutation_p.E371Q NM_013348 NP_037480 Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel J14 371 Cytoplasmic (By similarity). voltage-gated potassium channel complex inward rectifier potassium channel activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TGAACGGGCAGAGCAGGCTTC 0.552 NaN 0 0 0 0.006122 0 17 68 SPHK2 56848 broad.mit.edu 37 19 49132338 49132338 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:49132338C>G uc002pjr.2 + 7 1639 c.1273C>G c.(1273-1275)CTT>GTT p.L425V SPHK2_uc010xzt.1_Missense_Mutation_p.L366V|SPHK2_uc002pjs.2_Missense_Mutation_p.L425V|SPHK2_uc002pjt.2_Missense_Mutation_p.L219V|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.L389V|SPHK2_uc002pjw.2_Missense_Mutation_p.L487V NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 425 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) tgacctgcctcttcccctgcc 0.348 NaN 0 0 0 0.006214 0 9 45 SPHK2 56848 broad.mit.edu 37 19 49132817 49132817 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:49132817C>G uc002pjr.2 + 7 2118 c.1752C>G c.(1750-1752)TTC>TTG p.F584L SPHK2_uc010xzt.1_Missense_Mutation_p.F525L|SPHK2_uc002pjs.2_Missense_Mutation_p.F584L|SPHK2_uc002pjt.2_Missense_Mutation_p.F378L|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.F548L|SPHK2_uc002pjw.2_Missense_Mutation_p.F646L NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 584 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGCGCCTTTTCTTGGCCATGG 0.701 NaN 0 0 0 0.004672 0 2 6 PLEKHA4 57664 broad.mit.edu 37 19 49362759 49362759 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:49362759G>C uc002pkx.2 - 7 1210 c.659C>G c.(658-660)TCT>TGT p.S220C PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Missense_Mutation_p.S220C NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 220 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CTGGAGTCCAGAGTGGAGGTC 0.632 NaN 0 0 0 0.00499 0 17 62 SLC6A16 28968 broad.mit.edu 37 19 49814319 49814319 + Missense_Mutation SNP C C G rs148710394 by1000genomes TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:49814319C>G uc002pmz.2 - 2 520 c.286G>C c.(286-288)GAG>CAG p.E96Q SLC6A16_uc002pna.2_Missense_Mutation_p.E96Q|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 96 Cytoplasmic (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACCTCACTCTCTTTCTTCTCT 0.517 NaN 0 0 0 0.008361 0 27 92 PRR12 57479 broad.mit.edu 37 19 50099726 50099726 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:50099726G>A uc002poo.3 + 4 2134 c.2134G>A c.(2134-2136)GAG>AAG p.E712K NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CAGCCTGGATGAGGGTGCCAC 0.682 NaN 0 0 0 0.001984 0 7 12 CPT1C 126129 broad.mit.edu 37 19 50209292 50209292 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:50209292G>A uc002ppj.2 + 10 1296 c.1091G>A c.(1090-1092)AGA>AAA p.R364K CPT1C_uc002ppl.3_Missense_Mutation_p.R330K|CPT1C_uc002ppi.2_Missense_Mutation_p.R281K|CPT1C_uc002ppk.2_Missense_Mutation_p.R353K|CPT1C_uc010eng.2_Missense_Mutation_p.R364K|CPT1C_uc010enh.2_Missense_Mutation_p.R364K|CPT1C_uc010ybc.1_Missense_Mutation_p.R235K|CPT1C_uc010eni.1_Missense_Mutation_p.R21K NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 364 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CAGTTTCAGAGAATCCTGGAT 0.632 NaN 0 0 0 0.012319 0 22 69 ZNF845 91664 broad.mit.edu 37 19 53855026 53855026 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:53855026C>G uc010ydv.1 + 4 1215 c.1098C>G c.(1096-1098)TTC>TTG p.F366L ZNF845_uc010ydw.1_Missense_Mutation_p.F366L NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 366 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTCAGTTTCAAATCAAACC 0.398 NaN 0 0 0 0.00333 0 24 71 CNOT3 4849 broad.mit.edu 37 19 54646863 54646863 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:54646863G>C uc002qdj.1 + 3 345 c.34G>C c.(34-36)GAT>CAT p.D12H CNOT3_uc010yel.1_Missense_Mutation_p.D12H|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.D12H|CNOT3_uc010ere.1_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 12 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGGTGAGATTGATCGCTGCCT 0.537 NaN 0 0 0 0.009718 0 36 247 CNOT3 4849 broad.mit.edu 37 19 54646887 54646887 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:54646887G>A uc002qdj.1 + 3 369 c.58G>A c.(58-60)GAG>AAG p.E20K CNOT3_uc010yel.1_Missense_Mutation_p.E20K|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.E20K|CNOT3_uc010ere.1_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 20 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E20K(1) ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGGTGTCCGAGGGCGTGGA 0.557 NaN 0 0 0 0.005524 0 32 239 LILRB3 11025 broad.mit.edu 37 19 54724400 54724400 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:54724400G>A uc002qef.1 - 6 1367 c.1256C>T c.(1255-1257)TCA>TTA p.S419L LILRB3_uc002qee.1_Missense_Mutation_p.S419L|LILRB3_uc002qeh.1_Missense_Mutation_p.S419L|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.S419L|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.S419L|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.S419L|LILRB3_uc002qep.1_Missense_Mutation_p.S419L|LILRB3_uc002qeq.1_Missense_Mutation_p.S419L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S419L|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 419 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCCTCACCTGAGACCACGAG 0.667 NaN 0 0 0 0.010729 0 10 33 LILRB3 11025 broad.mit.edu 37 19 54746131 54746131 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:54746131C>T uc010erh.1 - 3 250 c.126G>A c.(124-126)GGG>GGA p.G42G LILRA6_uc002qew.1_Silent_p.G42G|LILRB3_uc002qeh.1_Silent_p.G42G|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.G42G|LILRA6_uc002qek.1_Silent_p.G42G|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.G42G|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.G42G|LILRB3_uc002qep.1_Silent_p.G42G|LILRB3_uc002qeq.1_Silent_p.G42G|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.G42G|LILRA6_uc010yep.1_Silent_p.G42G|LILRA6_uc010yeq.1_Silent_p.G42G|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Silent_p.G42G|LILRA6_uc002qev.1_5'Flank NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 42 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACGGGGCTCCCCCAGCTGA 0.602 NaN 0 0 0 0.005443 0 27 169 PPP1R12C 54776 broad.mit.edu 37 19 55610164 55610164 + Silent SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:55610164C>A uc002qix.2 - 6 955 c.939G>T c.(937-939)CGG>CGT p.R313R PPP1R12C_uc010yfs.1_Silent_p.R239R|PPP1R12C_uc002qiy.2_Silent_p.R313R NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 313 Potential. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCTCCTGTTTCCGGGCCAGTT 0.637 NaN 1 0 4.4004e-07 0.00333 4.48252e-07 22 86 SYT5 6861 broad.mit.edu 37 19 55689630 55689630 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:55689630C>T uc002qjm.1 - 2 1246 c.186G>A c.(184-186)AAG>AAA p.K62K SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Silent_p.K62K|SYT5_uc002qjo.1_Silent_p.K62K NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 62 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GGGCCTGGCTCTTCTTGCCTG 0.632 NaN 0 0 0 0.000602 0 3 12 ZNF17 7565 broad.mit.edu 37 19 57932476 57932476 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:57932476C>G uc002qoo.1 + 3 1847 c.1616C>G c.(1615-1617)TCA>TGA p.S539* ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Nonsense_Mutation_p.S541* NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 539 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) AGGCACAACTCAAATCATATT 0.423 NaN 0 0 0 0.00333 0 26 96 ZNF324 25799 broad.mit.edu 37 19 58982927 58982927 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:58982927C>G uc002qsw.1 + 4 1162 c.1068C>G c.(1066-1068)CTC>CTG p.L356L ZNF324_uc002qsx.1_Silent_p.L133L NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 356 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCTCCAACCTCAGCCAGCACC 0.662 NaN 0 0 0 0.001984 0 4 14 MYT1L 23040 broad.mit.edu 37 2 1914091 1914091 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:1914091C>G uc002qxe.2 - 13 2565 c.1738G>C c.(1738-1740)GAG>CAG p.E580Q MYT1L_uc002qxd.2_Missense_Mutation_p.E578Q|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 580 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCCAGTTTCTCTGCTGCAGCG 0.592 NaN 0 0 0 0.001168 0 5 65 TP53I3 9540 broad.mit.edu 37 2 24300523 24300523 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:24300523C>T uc002rey.1 - 6 985 c.925G>A c.(925-927)GAA>AAA p.E309K LOC375190_uc002rew.2_Intron|SF3B14_uc002rev.2_5'Flank|SF3B14_uc010eyb.2_5'Flank|TP53I3_uc002rex.1_Missense_Mutation_p.R243Q|TP53I3_uc002rez.1_Missense_Mutation_p.E309K|TP53I3_uc010ykk.1_Missense_Mutation_p.E220K NM_147184 NP_671713 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 309 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTGGATTTCGGTCACTGGG 0.562 NaN 0 0 0 0.01441 0 61 90 ASXL2 55252 broad.mit.edu 37 2 25976464 25976464 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:25976464C>G uc002rgs.2 - 10 1302 c.1081G>C c.(1081-1083)GAG>CAG p.E361Q ASXL2_uc002rgt.1_Missense_Mutation_p.E101Q NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTCCTTCTCAATCTCTTGT 0.363 NaN 0 0 0 0.01441 0 54 240 C2orf16 84226 broad.mit.edu 37 2 27801442 27801442 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:27801442C>T uc002rkz.3 + 1 2054 c.2003C>T c.(2002-2004)TCT>TTT p.S668F NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 668 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCGCAAACATCTCCATTTGAG 0.408 NaN 0 0 0 0.01441 0 72 103 FOSL2 2355 broad.mit.edu 37 2 28616622 28616622 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:28616622C>G uc002rma.2 + 1 844 c.35C>G c.(34-36)TCG>TGG p.S12W uc002rlz.1_Intron|FOSL2_uc010ymi.1_5'Flank NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 12 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) TTTGACACCTCGTCCCGGGGC 0.716 NaN 0 0 0 0.00308 0 7 9 CCDC75 253635 broad.mit.edu 37 2 37319356 37319356 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:37319356C>G uc010ezz.2 + 6 631 c.486C>G c.(484-486)CTC>CTG p.L162L CCDC75_uc002rpr.3_Silent_p.L59L NM_174931 NP_777591 Q8N954 CCD75_HUMAN coiled-coil domain containing 75 162 intracellular nucleic acid binding 0 all_hematologic(82;0.21) AAGGAGATCTCAGAAGAAGCC 0.378 NaN 0 0 0 0.004672 0 3 11 SOS1 6654 broad.mit.edu 37 2 39213087 39213087 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:39213087G>C uc002rrk.3 - 23 3921 c.3880C>G c.(3880-3882)CCA>GCA p.P1294A SOS1_uc002rrj.3_Missense_Mutation_p.P893A NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1294 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CTTTGTCGTGGAGGAACAGGC 0.502 NaN Noonan_syndrome 0 0 0 0.01441 0 94 204 ALMS1 7840 broad.mit.edu 37 2 73677000 73677000 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:73677000C>G uc002sje.1 + 10 3460 c.3349C>G c.(3349-3351)CTG>GTG p.L1117V ALMS1_uc002sjf.1_Missense_Mutation_p.L1073V|ALMS1_uc002sjg.2_Missense_Mutation_p.L503V|ALMS1_uc002sjh.1_Missense_Mutation_p.L503V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1115 34 X 47 AA approximate tandem repeat.|13. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGAGAGTCATCTGCCTAAAGA 0.468 NaN 0 0 0 0.01441 0 81 231 MOGS 7841 broad.mit.edu 37 2 74689052 74689052 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:74689052C>T uc010ffj.2 - 4 2027 c.1864G>A c.(1864-1866)GAG>AAG p.E622K MOGS_uc010ffh.2_Missense_Mutation_p.E347K|MOGS_uc010yrt.1_Missense_Mutation_p.E503K|MOGS_uc010ffi.2_Missense_Mutation_p.E516K NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 622 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GCAGCTACCTCAGCCTCACCC 0.632 NaN 0 0 0 0.006122 0 13 53 MRPL53 116540 broad.mit.edu 37 2 74699247 74699247 + Nonstop_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:74699247C>A uc002sln.2 - 3 478 c.338G>T c.(337-339)TGA>TTA p.*113L CCDC142_uc002slo.2_RNA NM_053050 NP_444278 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 precursor 113 mitochondrion|ribosome 0 TTGGCGCTGTCAGCGACCAGT 0.547 NaN 1 0 2.44723e-14 0.004656 2.52899e-14 26 84 HK2 3099 broad.mit.edu 37 2 75061718 75061718 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:75061718C>G uc002snd.2 + 1 1937 c.11C>G c.(10-12)TCG>TGG p.S4W NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 4 Hydrophobic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 ATGATTGCCTCGCATCTGCTT 0.662 NaN 0 0 0 0.006122 0 16 50 PROM2 150696 broad.mit.edu 37 2 95941808 95941808 + Missense_Mutation SNP C C A rs147971761 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:95941808C>A uc002suh.1 + 3 558 c.425C>A c.(424-426)ACA>AAA p.T142K PROM2_uc002sui.2_Missense_Mutation_p.T142K|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.T142K|PROM2_uc002sul.2_5'UTR NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 142 Cytoplasmic (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 CGAGTGAAGACAGAGCACAAG 0.687 NaN 1 0 0.000442599 0.006214 0.000447421 9 39 SNRNP200 23020 broad.mit.edu 37 2 96952861 96952861 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:96952861G>A uc002svu.2 - 27 3608 c.3522C>T c.(3520-3522)ATC>ATT p.I1174I SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Silent_p.I246I NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1174 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CATATTTGTGGATGGTCTTCC 0.537 NaN 0 0 0 0.01441 0 58 149 CNNM3 26505 broad.mit.edu 37 2 97494773 97494773 + Missense_Mutation SNP G G A rs149301704 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:97494773G>A uc002swy.2 + 7 1985 c.1961G>A c.(1960-1962)CGA>CAA p.R654Q CNNM3_uc002swz.2_Missense_Mutation_p.R606Q NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 654 ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 CTGGCTACCCGAGCCCAGAAC 0.587 NaN 0 0 0 0.00333 0 25 38 EIF5B 9669 broad.mit.edu 37 2 100011209 100011209 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:100011209G>C uc002tab.2 + 21 3301 c.3117G>C c.(3115-3117)GTG>GTC p.V1039V EIF5B_uc010yvq.1_Silent_p.V21V NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1039 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 CCTTCGATGTGAGAATTGAAC 0.318 NaN 0 0 0 0.007291 0 26 121 IL1RL1 9173 broad.mit.edu 37 2 102956721 102956721 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:102956721G>C uc002tbu.1 + 4 707 c.436G>C c.(436-438)GAG>CAG p.E146Q IL1RL1_uc010ywa.1_Missense_Mutation_p.E29Q|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.E146Q NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 146 Ig-like C2-type 2.|Extracellular (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 AGCACCTCTTGAGTGGTTTAA 0.274 NaN 0 0 0 0.001855 0 12 62 SLC9A4 389015 broad.mit.edu 37 2 103119999 103119999 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:103119999C>T uc002tbz.3 + 3 1270 c.813C>T c.(811-813)ATC>ATT p.I271I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 271 Helical; Name=H/M6; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CCCGATTCATCGTTGTGGGGC 0.393 NaN 0 0 0 0.003954 0 24 69 GYPC 2995 broad.mit.edu 37 2 127453717 127453717 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:127453717G>A uc002tnq.2 + 4 542 c.386G>A c.(385-387)TGA>TAA p.*129* GYPC_uc002tnr.2_Silent_p.*110*|GYPC_uc010flv.2_RNA NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 129 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) TACTTTATTTGAGGGACAACA 0.552 NaN 0 0 0 0.006214 0 10 34 GPR17 2840 broad.mit.edu 37 2 128408370 128408370 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:128408370G>C uc010yzn.1 + 4 756 c.145G>C c.(145-147)GAG>CAG p.E49Q LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.E49Q|GPR17_uc010yzo.1_Missense_Mutation_p.E21Q|GPR17_uc002tpd.2_Missense_Mutation_p.E21Q NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 49 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) ggccacggcagagcaatgtgg 0.08 NaN OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 31 127 NR4A2 4929 broad.mit.edu 37 2 157186256 157186256 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:157186256G>C uc002tyz.3 - 3 865 c.443C>G c.(442-444)TCT>TGT p.S148C NR4A2_uc002tyx.3_Missense_Mutation_p.S85C|NR4A2_uc010zcf.1_Missense_Mutation_p.S148C|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 148 Pro-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GTTGTGGAGAGATCCCGGGTC 0.622 NaN 0 0 0 0.01441 0 51 157 GALNT5 11227 broad.mit.edu 37 2 158115547 158115547 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:158115547C>T uc002tzg.2 + 1 1208 c.953C>T c.(952-954)TCT>TTT p.S318F GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 318 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 CTCAATTTCTCTGAAAGCCAT 0.388 NaN 0 0 0 0.009535 0 31 93 SLC4A10 57282 broad.mit.edu 37 2 162833271 162833271 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:162833271G>C uc002ubx.3 + 25 3413 c.3229G>C c.(3229-3231)GAT>CAT p.D1077H SLC4A10_uc002uby.3_Missense_Mutation_p.D1047H|SLC4A10_uc010zcs.1_Missense_Mutation_p.D1058H NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 1077 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CCTGTCTAGAGATGATCCATC 0.348 NaN 0 0 0 0.004672 0 2 8 SCN3A 6328 broad.mit.edu 37 2 165956815 165956815 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:165956815C>T uc002ucx.2 - 22 4455 c.3963G>A c.(3961-3963)ATG>ATA p.M1321I SCN3A_uc002ucy.2_Missense_Mutation_p.M1272I|SCN3A_uc002ucz.2_Missense_Mutation_p.M1272I|SCN3A_uc002uda.1_Missense_Mutation_p.M1141I|SCN3A_uc002udb.1_Missense_Mutation_p.M1141I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1321 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTCTTACCCTCATGCCTTCAA 0.373 NaN 0 0 0 0.004878 0 35 117 XIRP2 129446 broad.mit.edu 37 2 167992460 167992460 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:167992460G>C uc002udx.2 + 2 468 c.450G>C c.(448-450)AAG>AAC p.K150N XIRP2_uc010fpn.2_Missense_Mutation_p.K150N|XIRP2_uc010fpo.2_Missense_Mutation_p.K150N|XIRP2_uc010fpp.2_Missense_Mutation_p.K150N|XIRP2_uc002udy.2_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAGCTTTTAAGAGTCACCCTG 0.433 NaN 0 0 0 0.012319 0 21 67 LRP2 4036 broad.mit.edu 37 2 170083085 170083085 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:170083085G>A uc002ues.2 - 32 5454 c.5241C>T c.(5239-5241)TTC>TTT p.F1747F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1747 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAGTTATTAAGAAAGGTTGAT 0.378 NaN 0 0 0 0.004007 0 17 64 KBTBD10 10324 broad.mit.edu 37 2 170367164 170367164 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:170367164G>A uc002ueu.1 + 1 953 c.876G>A c.(874-876)CTG>CTA p.L292L KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 292 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 CTGGTTACCTGAATGACATTC 0.478 NaN 0 0 0 0.010504 0 22 63 DLX2 1746 broad.mit.edu 37 2 172965328 172965328 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:172965328G>C uc002uhn.2 - 3 1142 c.930C>G c.(928-930)CAC>CAG p.H310Q NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 310 Poly-His. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGTGGTGGTGGTGATGCGGCT 0.672 NaN 0 0 0 0.001984 0 6 38 NFE2L2 4780 broad.mit.edu 37 2 178098975 178098975 + Missense_Mutation SNP A A G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:178098975A>G uc002ulh.3 - 2 625 c.70T>C c.(70-72)TGG>CGG p.W24R NFE2L2_uc002ulg.3_Missense_Mutation_p.W8R|NFE2L2_uc010zfa.1_Missense_Mutation_p.W8R|NFE2L2_uc002uli.3_Missense_Mutation_p.W8R|NFE2L2_uc010fra.2_Missense_Mutation_p.W8R|NFE2L2_uc010frb.2_Missense_Mutation_p.W8R NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 24 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCTTGCCTCCAAAGTATGTCA 0.348 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.004482 0 8 64 TTN 7273 broad.mit.edu 37 2 179472934 179472934 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:179472934G>A uc010zfg.1 - 224 45196 c.44972C>T c.(44971-44973)TCA>TTA p.S14991L uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.S8686L|TTN_uc010zfi.1_Missense_Mutation_p.S8619L|TTN_uc010zfj.1_Missense_Mutation_p.S8494L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15918 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGGGATCTGAAGGTGGACT 0.418 NaN 0 0 0 0.006214 0 9 21 TTN 7273 broad.mit.edu 37 2 179583286 179583286 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:179583286C>G uc010zfg.1 - 82 21039 c.20815G>C c.(20815-20817)GAG>CAG p.E6939Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3600Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7866 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCCTGTCTCAACACTGAAA 0.423 NaN 0 0 0 0.004482 0 9 49 TTN 7273 broad.mit.edu 37 2 179598113 179598113 + Missense_Mutation SNP C C T rs72648934 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:179598113C>T uc010zfg.1 - 51 12399 c.12175G>A c.(12175-12177)GCC>ACC p.A4059T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A720T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4986 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTTACTGGCGACCAAGGGT 0.473 NaN 0 0 0 0.005524 0 41 127 NEUROD1 4760 broad.mit.edu 37 2 182543515 182543515 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:182543515C>G uc002uof.2 - 2 309 c.73G>C c.(73-75)GAG>CAG p.E25Q CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 25 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CTGAGACACTCGTCTGTCCAG 0.552 NaN 0 0 0 0.003954 0 20 57 PDE1A 5136 broad.mit.edu 37 2 183095762 183095762 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:183095762C>T uc002uos.2 - 6 646 c.562G>A c.(562-564)GAT>AAT p.D188N PDE1A_uc010zfp.1_Missense_Mutation_p.D84N|PDE1A_uc002uoq.1_Missense_Mutation_p.D188N|PDE1A_uc010zfq.1_Missense_Mutation_p.D188N|PDE1A_uc002uor.2_Missense_Mutation_p.D172N|PDE1A_uc002uou.2_Missense_Mutation_p.D154N NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 188 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTGATAAGATCATATCTGGTA 0.338 NaN 0 0 0 0.00874 0 41 131 FAM171B 165215 broad.mit.edu 37 2 187626715 187626715 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:187626715C>T uc002ups.2 + 8 1758 c.1646C>T c.(1645-1647)TCC>TTC p.S549F FAM171B_uc002upr.1_Missense_Mutation_p.S516F|FAM171B_uc002upt.2_Missense_Mutation_p.S18F NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 549 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 GACCTTTTCTCCACACCGGAA 0.438 NaN 0 0 0 0.004007 0 14 55 FAM171B 165215 broad.mit.edu 37 2 187626819 187626819 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:187626819C>G uc002ups.2 + 8 1862 c.1750C>G c.(1750-1752)CAG>GAG p.Q584E FAM171B_uc002upr.1_Missense_Mutation_p.Q551E|FAM171B_uc002upt.2_Missense_Mutation_p.Q53E NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 584 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 GAACTTTACGCAGACCTTGCC 0.473 NaN 0 0 0 0.00499 0 17 69 ABI2 10152 broad.mit.edu 37 2 204291976 204291976 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:204291976C>G uc002vaa.2 + 11 1678 c.1443C>G c.(1441-1443)ATC>ATG p.I481M ABI2_uc002uzz.2_Missense_Mutation_p.I443M|ABI2_uc010zih.1_Missense_Mutation_p.I129M|ABI2_uc010zii.1_Missense_Mutation_p.I475M|ABI2_uc010zij.1_Missense_Mutation_p.I358M|ABI2_uc002vab.2_Missense_Mutation_p.I369M|ABI2_uc010zik.1_Missense_Mutation_p.I206M|ABI2_uc010zil.1_Missense_Mutation_p.I345M|ABI2_uc010zim.1_Missense_Mutation_p.I294M|ABI2_uc002vac.2_Missense_Mutation_p.I267M|ABI2_uc010zin.1_Missense_Mutation_p.I158M NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN abl interactor 2 481 SH3. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding 0 TTTATGTCATCAAGAAGAATG 0.393 NaN 0 0 0 0.010504 0 18 65 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:209113112C>T uc002vcs.2 - 4 641 c.395G>A c.(394-396)CGT>CAT p.R132H IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 NaN Mis gliobastoma 0 0 0 0.003271 0 34 71 MAP2 4133 broad.mit.edu 37 2 210557605 210557605 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:210557605G>A uc002vde.1 + 7 959 c.711G>A c.(709-711)ATG>ATA p.M237I MAP2_uc002vdc.1_Missense_Mutation_p.M237I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.M233I NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 237 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGGAAGACATGAAACAGAAGA 0.458 NaN 0 0 0 0.004656 0 23 105 TNS1 7145 broad.mit.edu 37 2 218712319 218712319 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:218712319G>A uc002vgt.2 - 17 2944 c.2546C>T c.(2545-2547)TCA>TTA p.S849L TNS1_uc002vgr.2_Missense_Mutation_p.S849L|TNS1_uc002vgs.2_Missense_Mutation_p.S849L|TNS1_uc010zjv.1_Missense_Mutation_p.S849L|TNS1_uc010fvj.1_Missense_Mutation_p.S917L|TNS1_uc010fvk.1_Missense_Mutation_p.S974L|TNS1_uc010fvi.1_Missense_Mutation_p.S536L NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 849 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTCCTTTGGTGAGAGCAGAGG 0.602 NaN 0 0 0 0.004878 0 39 97 SGPP2 130367 broad.mit.edu 37 2 223389719 223389719 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:223389719C>T uc010zlo.1 + 4 615 c.615C>T c.(613-615)CTC>CTT p.L205L SGPP2_uc010zlp.1_Silent_p.L77L NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphotase 2 205 Helical; (Potential). sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|skin(1) 2 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) TGGTGTGTCTCAGCAGGCTCT 0.473 NaN 0 0 0 0.004007 0 15 64 IRS1 3667 broad.mit.edu 37 2 227662879 227662879 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:227662879G>A uc002voh.3 - 1 628 c.576C>T c.(574-576)ATC>ATT p.I192I NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 192 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TCACGAAGCTGATGGTCTTGC 0.552 NaN OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 17 72 IRS1 3667 broad.mit.edu 37 2 227663125 227663125 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:227663125G>C uc002voh.3 - 1 382 c.330C>G c.(328-330)CTC>CTG p.L110L NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 110 PH.|Mediates interaction with PHIP (By similarity). fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCAGCTGTAGGAGAGCCTGGT 0.672 NaN OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004656 0 26 131 COL4A4 1286 broad.mit.edu 37 2 227886844 227886844 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:227886844G>T uc010zlt.1 - 43 4790 c.4136C>A c.(4135-4137)CCA>CAA p.P1379Q NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1379 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGAAGGCCTGGGATTCGGGG 0.582 NaN 1 0 9.61239e-26 0.01441 1.00116e-25 76 297 COL4A3 1285 broad.mit.edu 37 2 228163449 228163449 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:228163449G>C uc002vom.1 + 43 3965 c.3803G>C c.(3802-3804)GGA>GCA p.G1268A COL4A3_uc002von.1_Missense_Mutation_p.G1268A|COL4A3_uc002voo.1_Missense_Mutation_p.G1268A|COL4A3_uc002vop.1_Missense_Mutation_p.G1268A|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1268 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCATAAAAGGAGACAAAGGG 0.522 NaN 0 0 0 0.014323 0 21 73 TRIP12 9320 broad.mit.edu 37 2 230656622 230656622 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:230656622G>A uc002vpw.1 - 28 4259 c.4150C>T c.(4150-4152)CTA>TTA p.L1384L TRIP12_uc002vpx.1_Silent_p.L1432L|TRIP12_uc002vpy.1_Silent_p.L1114L NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1384 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GCTCTGCCTAGAGGATTGCTC 0.378 NaN 0 0 0 0.01441 0 58 199 ARMC9 80210 broad.mit.edu 37 2 232141419 232141419 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:232141419G>A uc002vrq.3 + 15 1517 c.1405G>A c.(1405-1407)GAC>AAC p.D469N ARMC9_uc002vrp.3_Missense_Mutation_p.D469N|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 469 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GAAGGACCCTGACTGCCTGTC 0.557 NaN 0 0 0 0.01441 0 47 159 ARMC9 80210 broad.mit.edu 37 2 232141443 232141443 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:232141443G>A uc002vrq.3 + 15 1541 c.1429G>A c.(1429-1431)GAG>AAG p.E477K ARMC9_uc002vrp.3_Missense_Mutation_p.E477K|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 477 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CTACACGCTGGAGTACTCGGT 0.567 NaN 0 0 0 0.00623 0 37 139 HDAC4 9759 broad.mit.edu 37 2 240061422 240061422 + Silent SNP C C T rs138989369 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:240061422C>T uc002vyk.3 - 9 1728 c.936G>A c.(934-936)GCG>GCA p.A312A HDAC4_uc010fyz.1_Silent_p.A307A|HDAC4_uc010zoa.1_Silent_p.A307A|HDAC4_uc010fza.2_Silent_p.A312A|HDAC4_uc010fyy.2_Silent_p.A264A|HDAC4_uc010znz.1_Silent_p.A195A|HDAC4_uc010fzb.1_RNA NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 312 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TACCGTTCTCCGCGCTGACGC 0.662 NaN 0 0 0 0.010771 0 40 121 MTERFD2 130916 broad.mit.edu 37 2 242039257 242039257 + Missense_Mutation SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:242039257T>C uc002wan.1 - 1 654 c.161A>G c.(160-162)CAG>CGG p.Q54R MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.Q25R NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 25 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) ATGAGGAGTCTGCCTAGCCAT 0.498 NaN 0 0 0 0.001855 0 12 26 D2HGDH 728294 broad.mit.edu 37 2 242707248 242707248 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr2:242707248G>C uc002wce.1 + 10 1603 c.1430G>C c.(1429-1431)GGA>GCA p.G477A D2HGDH_uc010fzq.1_Missense_Mutation_p.G343A|D2HGDH_uc002wcg.1_RNA|D2HGDH_uc002wch.2_RNA|D2HGDH_uc002wci.2_Missense_Mutation_p.G176A NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 477 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCGGAGCACGGAGTGGGCTTC 0.701 NaN 0 0 0 0.001168 0 5 16 JAG1 182 broad.mit.edu 37 20 10632342 10632342 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:10632342G>T uc002wnw.2 - 8 1523 c.1007C>A c.(1006-1008)GCT>GAT p.A336D JAG1_uc010gcd.1_5'Flank NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 336 Extracellular (Potential).|EGF-like 4. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GGCGTGCTCAGCTGCAAAAAC 0.607 NaN Alagille_Syndrome 1 0 8.12818e-05 0.001984 8.22569e-05 6 20 ISM1 140862 broad.mit.edu 37 20 13251215 13251215 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:13251215C>A uc010gce.1 + 2 209 c.203C>A c.(202-204)CCA>CAA p.P68Q TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 68 extracellular region 0 AAAGAAGCACCAAGGGAGCAT 0.502 NaN 1 0 0.00185496 0.001855 0.00187312 12 42 SEL1L2 80343 broad.mit.edu 37 20 13850838 13850838 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:13850838G>C uc010gcf.2 - 13 1198 c.1116C>G c.(1114-1116)ATC>ATG p.I372M SEL1L2_uc002woq.3_Missense_Mutation_p.I233M|SEL1L2_uc010zrl.1_Missense_Mutation_p.I372M|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 372 Extracellular (Potential).|Sel1-like 7. integral to membrane binding ovary(2) 2 CATGAAGGCCGATTGCATTGC 0.333 NaN 0 0 0 0.005443 0 26 85 FOXA2 3170 broad.mit.edu 37 20 22563340 22563340 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:22563340C>G uc002wsn.2 - 3 712 c.522G>C c.(520-522)CAG>CAC p.Q174H FOXA2_uc002wsm.2_Missense_Mutation_p.Q180H NM_153675 NP_710141 Q9Y261 FOXA2_HUMAN forkhead box A2 isoform 2 174 Fork-head. cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|kidney(1)|central_nervous_system(1) 4 Lung NSC(19;0.188) TGTTGGGGCTCTGCTGGATGG 0.617 NaN 0 0 0 0.010771 0 41 117 ABHD12 26090 broad.mit.edu 37 20 25295601 25295601 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:25295601C>G uc002wus.1 - 6 717 c.579G>C c.(577-579)CTG>CTC p.L193L ABHD12_uc002wuq.2_Silent_p.L193L|ABHD12_uc002wur.2_Silent_p.L193L|ABHD12_uc002wut.1_Silent_p.L193L|ABHD12_uc002wuu.1_5'UTR NM_001042472 NP_001035937 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 isoform a 193 Extracellular (Potential). integral to membrane acylglycerol lipase activity skin(1) 1 CAAGGGAACTCAGCACCTGTA 0.448 NaN 0 0 0 0.014323 0 22 91 C20orf70 140683 broad.mit.edu 37 20 31760844 31760844 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:31760844C>T uc002wyo.1 + 3 335 c.264C>T c.(262-264)GTC>GTT p.V88V NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 88 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 TGAACAATGTCATTTCTAAGC 0.463 NaN 0 0 0 0.005443 0 26 62 C20orf71 128861 broad.mit.edu 37 20 31813019 31813019 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:31813019G>C uc002wyr.2 + 4 710 c.502G>C c.(502-504)GAG>CAG p.E168Q C20orf71_uc002wys.2_Missense_Mutation_p.E132Q NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 168 extracellular region lipid binding ovary(1)|skin(1) 2 ATGCGATGCAGAGCCCAGCAG 0.572 NaN 0 0 0 0.00874 0 42 132 CPNE1 8904 broad.mit.edu 37 20 34220101 34220101 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:34220101C>G uc002xdf.2 - 7 803 c.440G>C c.(439-441)AGA>ACA p.R147T CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.R152T|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdg.2_Missense_Mutation_p.R147T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R147T|CPNE1_uc002xdi.2_Missense_Mutation_p.R147T|CPNE1_uc002xdj.2_Missense_Mutation_p.R147T|CPNE1_uc002xdk.2_Missense_Mutation_p.R147T|CPNE1_uc002xdl.2_Missense_Mutation_p.R147T|CPNE1_uc002xdm.2_Missense_Mutation_p.R147T|CPNE1_uc010gfk.1_Missense_Mutation_p.R147T NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 147 C2 2. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) ATCTAGGTTTCTGGCCTCTAC 0.483 NaN 0 0 0 0.004656 0 21 69 CTNNBL1 56259 broad.mit.edu 37 20 36488327 36488327 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:36488327C>T uc010zvw.1 + 15 1510 c.1419C>T c.(1417-1419)ATC>ATT p.I473I CTNNBL1_uc002xhh.2_Silent_p.I286I|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Silent_p.I221I NM_030877 NP_110517 Q8WYA6 CTBL1_HUMAN beta catenin-like 1 473 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding ovary(2) 2 Myeloproliferative disorder(115;0.00878) GAGAGATCATCGACAATGACA 0.522 NaN 0 0 0 0.00308 0 8 52 BPI 671 broad.mit.edu 37 20 36948673 36948673 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:36948673G>A uc002xib.2 + 7 827 c.765G>A c.(763-765)ATG>ATA p.M255I NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 255 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) ATGTACAGATGAAGGTGAGGC 0.468 NaN 0 0 0 0.001168 0 6 42 TOP1 7150 broad.mit.edu 37 20 39708734 39708734 + Missense_Mutation SNP A A T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:39708734A>T uc002xjl.2 + 6 591 c.345A>T c.(343-345)CAA>CAT p.Q115H TOP1_uc010gge.1_RNA NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 115 Lys-rich. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) GTCCACCACAAATTAAAGATG 0.348 NaN T NUP98 AML* 0 0 0 0.00245 0 13 52 SEMG2 6407 broad.mit.edu 37 20 43850714 43850714 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:43850714G>A uc010ggz.2 + 2 498 c.441G>A c.(439-441)GGG>GGA p.G147G SEMG2_uc002xnk.2_Silent_p.G147G|SEMG2_uc002xnl.2_Silent_p.G147G NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 147 Repeat-rich region.|2-1. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AAGATCAGGGGAATAGCCCAT 0.408 NaN 0 0 0 0.010504 0 22 65 SEMG2 6407 broad.mit.edu 37 20 43850728 43850728 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:43850728G>A uc010ggz.2 + 2 512 c.455G>A c.(454-456)GGA>GAA p.G152E SEMG2_uc002xnk.2_Missense_Mutation_p.G152E|SEMG2_uc002xnl.2_Missense_Mutation_p.G152E NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 152 Repeat-rich region.|2-1. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AGCCCATCTGGAAAGGGATTA 0.408 NaN 0 0 0 0.012319 0 23 70 ZNF335 63925 broad.mit.edu 37 20 44577600 44577600 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:44577600C>T uc002xqw.2 - 28 4144 c.4021G>A c.(4021-4023)GAT>AAT p.D1341N ZNF335_uc002xqv.2_Missense_Mutation_p.D453N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1186N NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GCTCAGTCATCGGCCAGGGTG 0.607 NaN 0 0 0 0.003954 0 23 68 PTGIS 5740 broad.mit.edu 37 20 48130897 48130897 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:48130897G>C uc002xut.2 - 7 945 c.891C>G c.(889-891)CTC>CTG p.L297L PTGIS_uc010zyi.1_Silent_p.L158L NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 297 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) TGAGAAGGAAGAGCAGGAGCC 0.597 NaN 0 0 0 0.00499 0 14 54 SLC9A8 23315 broad.mit.edu 37 20 48497480 48497480 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:48497480G>C uc002xuv.1 + 13 1388 c.1178G>C c.(1177-1179)AGA>ACA p.R393T SLC9A8_uc010zym.1_Missense_Mutation_p.R93T|SLC9A8_uc010gic.2_Missense_Mutation_p.R93T|SLC9A8_uc010gid.2_Missense_Mutation_p.R17T NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 393 Helical; (Potential). Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CTATTTGGCAGAGCGGTAAAC 0.413 NaN 0 0 0 0.012213 0 33 127 SALL4 57167 broad.mit.edu 37 20 50408216 50408216 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:50408216G>C uc002xwh.3 - 2 907 c.806C>G c.(805-807)TCT>TGT p.S269C SALL4_uc010gii.2_Missense_Mutation_p.S269C|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 269 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CACAGCTGCAGAAACCTGCTG 0.592 NaN 0 0 0 0.004007 0 5 30 C20orf177 63939 broad.mit.edu 37 20 58520007 58520007 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:58520007G>C uc002yba.2 + 5 1424 c.1009G>C c.(1009-1011)GAT>CAT p.D337H C20orf177_uc010zzx.1_Missense_Mutation_p.D180H|C20orf177_uc002ybc.2_Missense_Mutation_p.D337H NM_022106 NP_071389 Q9NTX9 CT177_HUMAN hypothetical protein LOC63939 337 ovary(2)|breast(1) 3 all_lung(29;0.00693) BRCA - Breast invasive adenocarcinoma(7;1.22e-08) GGACTCAGCAGATTCCTGTAA 0.517 NaN 0 0 0 0.00499 0 17 54 LAMA5 3911 broad.mit.edu 37 20 60921260 60921260 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:60921260C>T uc002ycq.2 - 10 1361 c.1294G>A c.(1294-1296)GAG>AAG p.E432K NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 432 Laminin EGF-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGTCGGACTCGCAGTTGCAG 0.647 NaN 0 0 0 0.008291 0 11 19 UCKL1 54963 broad.mit.edu 37 20 62577259 62577259 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr20:62577259C>T uc010gkn.2 - 4 524 c.481G>A c.(481-483)GAC>AAC p.D161N UCKL1_uc011abm.1_Missense_Mutation_p.D146N|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 161 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AGGTCGAAGTCAAAGGCATCT 0.562 NaN 0 0 0 0.01441 0 86 284 LIPI 149998 broad.mit.edu 37 21 15561577 15561577 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:15561577G>A uc002yjm.2 - 2 283 c.273C>T c.(271-273)TTC>TTT p.F91F LIPI_uc010gkw.1_Silent_p.F24F NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 70 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTTGTGTGTTGAAATTAACAT 0.383 NaN 0 0 0 0.010818 0 31 89 NCAM2 4685 broad.mit.edu 37 21 22910264 22910264 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:22910264G>C uc002yld.1 + 18 2749 c.2500G>C c.(2500-2502)GAC>CAC p.D834H NCAM2_uc011acb.1_Missense_Mutation_p.D692H NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 834 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAAAGAAGACGACAGCAAAGC 0.358 NaN 0 0 0 0.006214 0 10 64 KRTAP13-2 337959 broad.mit.edu 37 21 31744044 31744044 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:31744044C>G uc002ynz.3 - 1 514 c.488G>C c.(487-489)AGA>ACA p.R163T NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 163 intermediate filament 0 ATAGGCTGGTCTGTAACAAGG 0.493 NaN 0 0 0 0.006122 0 12 47 TRAPPC10 7109 broad.mit.edu 37 21 45514011 45514011 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:45514011C>G uc002zea.2 + 20 3234 c.3065C>G c.(3064-3066)TCT>TGT p.S1022C TRAPPC10_uc010gpo.2_Missense_Mutation_p.S733C|TRAPPC10_uc011afa.1_Missense_Mutation_p.S400C|TRAPPC10_uc011afb.1_Missense_Mutation_p.S127C NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1022 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CCTCCCCCTTCTCTGCATTGC 0.478 NaN 0 0 0 0.009718 0 39 176 TRAPPC10 7109 broad.mit.edu 37 21 45514050 45514050 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:45514050C>G uc002zea.2 + 20 3273 c.3104C>G c.(3103-3105)TCT>TGT p.S1035C TRAPPC10_uc010gpo.2_Missense_Mutation_p.S746C|TRAPPC10_uc011afa.1_Missense_Mutation_p.S413C|TRAPPC10_uc011afb.1_Missense_Mutation_p.S140C NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1035 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 TCCCCAGCTTCTGAGGAACAG 0.448 NaN 0 0 0 0.010771 0 40 181 TRAPPC10 7109 broad.mit.edu 37 21 45518306 45518306 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:45518306C>G uc002zea.2 + 21 3406 c.3237C>G c.(3235-3237)CTC>CTG p.L1079L TRAPPC10_uc010gpo.2_Silent_p.L790L|TRAPPC10_uc011afa.1_Silent_p.L457L|TRAPPC10_uc011afb.1_Silent_p.L184L NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 1079 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CAGGCTCCCTCTGCTCCCTGG 0.473 NaN 0 0 0 0.01441 0 54 188 AIRE 326 broad.mit.edu 37 21 45706995 45706995 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr21:45706995C>G uc002zei.2 + 3 569 c.442C>G c.(442-444)CCA>GCA p.P148A NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 148 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) AGCCCTGACTCCAAGGGGCAC 0.716 NaN Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 0 0 0 0.008291 0 4 23 PEX26 55670 broad.mit.edu 37 22 18566266 18566266 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:18566266C>T uc002znp.3 + 4 644 c.435C>T c.(433-435)CTC>CTT p.L145L TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.L145L|PEX26_uc002znt.2_Silent_p.L145L NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 145 Cytoplasmic (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 GTGCCTGGCTCCAAGACCCAG 0.527 NaN 0 0 0 0.00874 0 45 175 ZNF70 7621 broad.mit.edu 37 22 24086954 24086954 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:24086954G>C uc002zxs.2 - 2 835 c.374C>G c.(373-375)TCA>TGA p.S125* ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 125 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GTTAGGTCCTGAGTCCCCTCT 0.562 NaN 0 0 0 0.01441 0 44 159 CRYBB1 1414 broad.mit.edu 37 22 27003913 27003914 + Missense_Mutation DNP CC CC AT rs141811471 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:27003913_27003914CC>AT uc003acy.1 - 4 441_442 c.371_372GG>AT c.(370-372)TGG>TAT p.W124Y NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 124 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens ovary(1) 1 ACCATGTGTTCCAGCGAGGGTA 0.594 NaN 0 0 0 0.004672 0 21 53 AP1B1 162 broad.mit.edu 37 22 29752417 29752417 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:29752417C>T uc003afj.2 - 6 898 c.714G>A c.(712-714)CAG>CAA p.Q238Q AP1B1_uc003afi.2_Silent_p.Q238Q|AP1B1_uc003afk.2_Silent_p.Q238Q|AP1B1_uc003afl.2_Silent_p.Q238Q NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 238 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CCGCTCACCTCTGGGCCTCGC 0.637 NaN 0 0 0 0.010729 0 11 23 ASCC2 84164 broad.mit.edu 37 22 30188508 30188508 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:30188508G>A uc003agr.2 - 18 2041 c.1936C>T c.(1936-1938)CAG>TAG p.Q646* ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.Q646*|ASCC2_uc011akr.1_Nonsense_Mutation_p.Q570* NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTCAGCACCTGAGGGATGGTG 0.562 NaN 0 0 0 0.009718 0 39 484 ELFN2 114794 broad.mit.edu 37 22 37770273 37770273 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:37770273G>A uc003asq.3 - 3 2088 c.1302C>T c.(1300-1302)GTC>GTT p.V434V NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 434 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) TGGTCTTCTTGACGTTGACAG 0.617 NaN 0 0 0 0.01441 0 58 197 EIF3L 51386 broad.mit.edu 37 22 38273809 38273809 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:38273809G>C uc003auf.2 + 11 1293 c.1206G>C c.(1204-1206)CAG>CAC p.Q402H EIF3L_uc003aue.1_Missense_Mutation_p.Q402H|EIF3L_uc011ann.1_Missense_Mutation_p.Q354H|EIF3L_uc003aug.2_Missense_Mutation_p.Q294H|EIF3L_uc003auh.2_Missense_Mutation_p.Q135H NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 402 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 TGCGCATGCAGAAAGGTGACC 0.517 NaN 0 0 0 0.004656 0 25 80 MKL1 57591 broad.mit.edu 37 22 40815081 40815081 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:40815081G>C uc003ayv.1 - 9 1568 c.1361C>G c.(1360-1362)TCT>TGT p.S454C MKL1_uc003ayw.1_Missense_Mutation_p.S454C|MKL1_uc010gye.1_Missense_Mutation_p.S454C|MKL1_uc010gyf.1_Missense_Mutation_p.S404C NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 454 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GGGGGTGGGAGACACGGGGGG 0.667 NaN T RBM15 acute megakaryocytic leukemia 0 0 0 0.009096 0 4 18 L3MBTL2 83746 broad.mit.edu 37 22 41626166 41626166 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:41626166G>C uc003azo.2 + 17 2083 c.2029G>C c.(2029-2031)GAG>CAG p.E677Q L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_Intron|CHADL_uc010gyj.2_Intron NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 677 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 TGTGAAGGAAGAGCATCTAGA 0.602 NaN 0 0 0 0.008871 0 20 74 RIBC2 26150 broad.mit.edu 37 22 45818177 45818177 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:45818177C>T uc011aqs.1 + 5 758 c.549C>T c.(547-549)CTC>CTT p.L183L NM_015653 NP_056468 Q9H4K1 RIBC2_HUMAN RIB43A domain with coiled-coils 2 115 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CAGAGGCCCTCTACACAGAGA 0.547 NaN 0 0 0 0.01441 0 68 225 GTSE1 51512 broad.mit.edu 37 22 46693369 46693369 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:46693369G>A uc011aqy.1 + 2 284 c.72G>A c.(70-72)AAG>AAA p.K24K CN5H6.4_uc003bhj.3_5'Flank|GTSE1_uc011aqz.1_5'UTR NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 5 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) ATGACCCTAAGAAGGAAGGCA 0.547 NaN 0 0 0 0.008361 0 23 97 PLXNB2 23654 broad.mit.edu 37 22 50721499 50721499 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:50721499G>A uc003bkv.3 - 17 2902 c.2796C>T c.(2794-2796)CTC>CTT p.L932L PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 932 Extracellular (Potential).|IPT/TIG 2. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGACGCCGTTGAGGGTCACCC 0.677 NaN 0 0 0 0.010729 0 11 17 CHKB 1120 broad.mit.edu 37 22 51020725 51020725 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr22:51020725C>T uc003bms.2 - 2 504 c.286G>A c.(286-288)GAG>AAG p.E96K CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_5'UTR|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Missense_Mutation_p.E96K|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 96 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CGGGGCTCCTCGCCAACGCTG 0.701 NaN 0 0 0 0.004672 0 3 8 FANCD2 2177 broad.mit.edu 37 3 10089620 10089620 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:10089620C>T uc003buw.2 + 16 1376 c.1298C>T c.(1297-1299)TCA>TTA p.S433L FANCD2_uc003bux.1_Missense_Mutation_p.S433L|FANCD2_uc003buy.1_Missense_Mutation_p.S433L|FANCD2_uc010hcw.1_5'Flank NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 433 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) GATATGTGTTCATCCATTCTG 0.393 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 51 283 FANCD2 2177 broad.mit.edu 37 3 10091133 10091133 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:10091133C>G uc003buw.2 + 17 1567 c.1489C>G c.(1489-1491)CTA>GTA p.L497V FANCD2_uc003bux.1_Missense_Mutation_p.L497V|FANCD2_uc003buy.1_Missense_Mutation_p.L497V|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 497 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGATGTCCTTCTAGAGTTGGT 0.398 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 70 254 NUP210 23225 broad.mit.edu 37 3 13393439 13393439 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:13393439G>C uc003bxv.1 - 20 2858 c.2775C>G c.(2773-2775)CTC>CTG p.L925L NUP210_uc003bxw.2_Silent_p.L101L|NUP210_uc003bxx.2_Silent_p.L597L NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 925 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TGCTGGTGTTGAGGAAGAAGT 0.617 NaN 0 0 0 0.008871 0 20 72 TBC1D5 9779 broad.mit.edu 37 3 17300041 17300041 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:17300041C>G uc003cbf.2 - 16 2953 c.1288G>C c.(1288-1290)GAT>CAT p.D430H TBC1D5_uc010heu.2_Missense_Mutation_p.D17H|TBC1D5_uc010hev.2_Missense_Mutation_p.D430H|TBC1D5_uc003cbe.2_Missense_Mutation_p.D430H|TBC1D5_uc010hew.1_Missense_Mutation_p.D382H NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 430 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 TTGTAATAATCTAAATTTGGA 0.308 NaN 0 0 0 0.01441 0 62 208 KAT2B 8850 broad.mit.edu 37 3 20082225 20082225 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:20082225C>G uc003cbq.2 + 1 702 c.256C>G c.(256-258)CCG>GCG p.P86A NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 86 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACGCTCCGCTCCGCGGGCCAA 0.706 NaN 0 0 0 0.000602 0 4 27 AZI2 64343 broad.mit.edu 37 3 28381983 28381983 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:28381983G>A uc003ceb.2 - 2 658 c.126C>T c.(124-126)GTC>GTT p.V42V AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.V42V|AZI2_uc003cee.3_Silent_p.V42V|AZI2_uc003ceg.2_Silent_p.V42V|AZI2_uc011axd.1_Silent_p.V42V|AZI2_uc003cef.2_Silent_p.V42V NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 42 Potential. mitochondrion|plasma membrane ovary(2) 2 CATATGCAGTGACAAGAGCAA 0.333 NaN 0 0 0 0.005443 0 29 95 UBP1 7342 broad.mit.edu 37 3 33450953 33450953 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:33450953G>C uc003cfq.3 - 6 1226 c.696C>G c.(694-696)ATC>ATG p.I232M UBP1_uc003cfr.3_Missense_Mutation_p.I232M|UBP1_uc010hga.2_Missense_Mutation_p.I232M NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 232 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 TAAAAACTTTGATTTGGCAGC 0.418 NaN 0 0 0 0.011902 0 45 142 UBP1 7342 broad.mit.edu 37 3 33458292 33458292 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:33458292C>G uc003cfq.3 - 3 830 c.300G>C c.(298-300)CGG>CGC p.R100R UBP1_uc003cfr.3_Silent_p.R100R|UBP1_uc010hga.2_Silent_p.R100R NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) isoform a 100 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity kidney(2) 2 CACCCATTTTCCGATTATCCA 0.318 NaN 0 0 0 0.007291 0 27 79 SCN11A 11280 broad.mit.edu 37 3 38921615 38921615 + Splice_Site SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:38921615C>G uc011ays.1 - 19 3419 c.3220_splice c.e19-1 p.I1074_splice SCN11A_uc010hhn.1_Intron NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTCAAATATCTGAAATGAAA 0.318 NaN 0 0 0 0.004482 0 8 31 CX3CR1 1524 broad.mit.edu 37 3 39307706 39307706 + Missense_Mutation SNP T T A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:39307706T>A uc003cjl.2 - 2 387 c.295A>T c.(295-297)AAT>TAT p.N99Y NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 99 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CACATGGCATTGTGGAGGCCC 0.463 NaN 0 0 0 0.007835 0 39 112 ZNF620 253639 broad.mit.edu 37 3 40557421 40557421 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:40557421C>G uc003ckk.2 + 5 485 c.336C>G c.(334-336)TTC>TTG p.F112L ZNF620_uc003ckl.2_5'UTR NM_175888 NP_787084 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CAGAGTCCTTCAGACTGATGG 0.463 NaN 0 0 0 0.003163 0 16 52 NKTR 4820 broad.mit.edu 37 3 42672757 42672757 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:42672757G>C uc003clo.2 + 8 646 c.499G>C c.(499-501)GAT>CAT p.D167H NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.D57H|NKTR_uc003clq.1_Missense_Mutation_p.D57H|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 167 PPIase cyclophilin-type. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) ACCATATGCAGATGTGCGAGT 0.388 NaN 0 0 0 0.00499 0 17 50 KBTBD5 131377 broad.mit.edu 37 3 42730464 42730464 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:42730464G>A uc003clv.1 + 4 1625 c.1525G>A c.(1525-1527)GAT>AAT p.D509N NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 509 Kelch 3. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CACTGTCCATGATGGCCGCAT 0.557 NaN 0 0 0 0.014323 0 19 55 KIF15 56992 broad.mit.edu 37 3 44893313 44893313 + Missense_Mutation SNP G G C rs77808243 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:44893313G>C uc003cnx.3 + 33 3990 c.3841G>C c.(3841-3843)GAG>CAG p.E1281Q KIF15_uc010hiq.2_Missense_Mutation_p.E1184Q|KIF15_uc010hir.2_Missense_Mutation_p.E329Q NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 1281 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTACAACAAAGAGATGGAATG 0.373 NaN 0 0 0 0.013114 0 43 158 FBXW12 285231 broad.mit.edu 37 3 48423544 48423544 + Nonsense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:48423544G>T uc003csr.2 + 10 1450 c.1264G>T c.(1264-1266)GAA>TAA p.E422* FBXW12_uc010hjv.2_Nonsense_Mutation_p.E403*|FBXW12_uc003css.2_Nonsense_Mutation_p.E352*|FBXW12_uc010hjw.2_Nonsense_Mutation_p.E321* NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 isoform 422 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGTCACCTGGAAAACACGTG 0.428 NaN 1 0 9.31168e-06 0.001855 9.45431e-06 9 39 COL7A1 1294 broad.mit.edu 37 3 48621376 48621376 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:48621376C>T uc003ctz.2 - 38 4236 c.4235G>A c.(4234-4236)GGA>GAA p.G1412E NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1412 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCACCTGGTCCAGGGGGACC 0.652 NaN 0 0 0 0.004482 0 9 56 UQCRC1 7384 broad.mit.edu 37 3 48641043 48641043 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:48641043G>A uc003cub.1 - 6 705 c.660C>T c.(658-660)CTC>CTT p.L220L UQCRC1_uc003cua.1_Silent_p.L105L|UQCRC1_uc003cuc.1_Silent_p.L220L|UQCRC1_uc003cud.1_Silent_p.L220L NM_003365 NP_003356 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 220 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) AATGTGTGCTGAGGTACTCGG 0.532 NaN 0 0 0 0.00308 0 8 45 CELSR3 1951 broad.mit.edu 37 3 48684260 48684260 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:48684260G>A uc003cul.2 - 21 7512 c.7231C>T c.(7231-7233)CTC>TTC p.L2411F CELSR3_uc003cuf.1_Missense_Mutation_p.L2481F|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.L394F NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2411 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGTAAACGAGGAGAATGATA 0.607 NaN 0 0 0 0.004007 0 15 42 BSN 8927 broad.mit.edu 37 3 49690134 49690134 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:49690134G>C uc003cxe.3 + 5 3259 c.3145G>C c.(3145-3147)GAA>CAA p.E1049Q NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1049 Potential. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCTGCGGGAGGAAGAGGAGCT 0.652 NaN 0 0 0 0.00308 0 8 29 CAMKV 79012 broad.mit.edu 37 3 49899235 49899235 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:49899235G>C uc003cxt.1 - 4 484 c.291C>G c.(289-291)ATC>ATG p.I97M CAMKV_uc011bcy.1_Missense_Mutation_p.I22M|CAMKV_uc003cxv.1_Missense_Mutation_p.I97M|CAMKV_uc003cxw.1_Translation_Start_Site|CAMKV_uc003cxx.1_Translation_Start_Site|CAMKV_uc003cxu.2_Missense_Mutation_p.I97M|CAMKV_uc011bcz.1_Missense_Mutation_p.I60M|CAMKV_uc011bda.1_Missense_Mutation_p.I97M|CAMKV_uc011bdb.1_RNA NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 97 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCTCCAGGAAGATAAAGTACT 0.582 NaN 0 0 0 0.003163 0 14 65 CYB561D2 11068 broad.mit.edu 37 3 50391174 50391174 + Nonstop_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:50391174G>C uc003dak.2 + 3 1244 c.668G>C c.(667-669)TGA>TCA p.*223S NPRL2_uc003dai.1_5'Flank|NPRL2_uc003daj.1_5'Flank|CYB561D2_uc003dal.2_Nonstop_Mutation_p.*223S|CYB561D2_uc003dam.2_Nonstop_Mutation_p.*223S NM_007022 NP_008953 O14569 C56D2_HUMAN cytochrome b-561 domain containing 2 223 electron transport chain|transport integral to membrane metal ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ATCCAACCATGAGCTCTTCCC 0.557 NaN 0 0 0 0.00333 0 21 96 RFT1 91869 broad.mit.edu 37 3 53157763 53157763 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:53157763C>T uc003dgj.2 - 3 297 c.243G>A c.(241-243)CAG>CAA p.Q81Q RFT1_uc003dgk.2_Intron NM_052859 NP_443091 Q96AA3 RFT1_HUMAN RFT1 homolog 81 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GGTTGAGGGTCTGGCTCCAGT 0.542 NaN 0 0 0 0.013537 0 13 49 DCP1A 55802 broad.mit.edu 37 3 53326414 53326414 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:53326414C>T uc003dgs.3 - 7 1161 c.1068G>A c.(1066-1068)CTG>CTA p.L356L DCP1A_uc003dgt.3_RNA NM_018403 NP_060873 Q9NPI6 DCP1A_HUMAN DCP1 decapping enzyme homolog A 356 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) CTGGCTGGTTCAGGAGTGGAG 0.582 NaN 0 0 0 0.004656 0 25 66 CCDC66 285331 broad.mit.edu 37 3 56647736 56647736 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:56647736G>A uc003dhz.2 + 11 1611 c.1524G>A c.(1522-1524)CAG>CAA p.Q508Q CCDC66_uc003dhy.2_Silent_p.Q144Q|CCDC66_uc003dhu.2_Silent_p.Q474Q|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_5'Flank NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 508 Potential. breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) AAGAGATGCAGAAACAGTATG 0.343 NaN 0 0 0 0.00632 0 27 84 GBE1 2632 broad.mit.edu 37 3 81586104 81586104 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:81586104C>T uc003dqg.2 - 14 2044 c.1761G>A c.(1759-1761)ATG>ATA p.M587I GBE1_uc011bgm.1_Missense_Mutation_p.M546I NM_000158 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 587 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(3) 3 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CCAATCTATTCATATCCCTGT 0.413 NaN Glycogen_Storage_Disease_type_IV 0 0 0 0.007413 0 19 75 C3orf26 84319 broad.mit.edu 37 3 99865849 99865849 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:99865849G>A uc003dtl.2 + 2 240 c.97G>A c.(97-99)GAA>AAA p.E33K NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 33 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 AGGAGACACAGAAGTGATGCA 0.433 NaN 0 0 0 0.010729 0 9 49 ZBTB11 27107 broad.mit.edu 37 3 101390113 101390113 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:101390113G>A uc003dve.3 - 3 869 c.639C>T c.(637-639)TTC>TTT p.F213F ZBTB11_uc003dvf.2_3'UTR NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TAACATCACAGAACTGGTTGG 0.373 NaN 0 0 0 0.003271 0 34 211 CBLB 868 broad.mit.edu 37 3 105438984 105438984 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:105438984G>A uc003dwc.2 - 10 1636 c.1314C>T c.(1312-1314)ATC>ATT p.I438I CBLB_uc011bhi.1_Silent_p.I460I|CBLB_uc003dwd.1_Silent_p.I438I|CBLB_uc003dwe.1_Silent_p.I438I|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 438 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 AGGGGTCAATGATGCTGCAAC 0.498 NaN Mis S AML 0 0 0 0.004007 0 16 87 ARHGAP31 57514 broad.mit.edu 37 3 119101938 119101938 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:119101938G>C uc003ecj.3 + 6 1079 c.547G>C c.(547-549)GAA>CAA p.E183Q NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 183 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TAGGTCTAAAGAAATTGAAGC 0.463 NaN 0 0 0 0.00278 0 22 145 GOLGB1 2804 broad.mit.edu 37 3 121400701 121400701 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:121400701C>G uc003eei.3 - 15 8817 c.8691G>C c.(8689-8691)TTG>TTC p.L2897F GOLGB1_uc010hrc.2_Missense_Mutation_p.L2902F|GOLGB1_uc003eej.3_Missense_Mutation_p.L2863F NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2897 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) GCAGATTCTTCAATTCCTTCA 0.368 NaN 0 0 0 0.006122 0 19 148 GOLGB1 2804 broad.mit.edu 37 3 121417101 121417101 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:121417101G>T uc003eei.3 - 13 2380 c.2254C>A c.(2254-2256)CAG>AAG p.Q752K GOLGB1_uc010hrc.2_Missense_Mutation_p.Q757K|GOLGB1_uc003eej.3_Missense_Mutation_p.Q718K|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q638K|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q716K NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 752 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCCTTCACCTGAGAGAGAAGC 0.418 NaN 1 0 1.30091e-30 0.006999 1.35951e-30 41 217 KPNA1 3836 broad.mit.edu 37 3 122215299 122215299 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:122215299C>G uc003efd.1 - 2 150 c.114G>C c.(112-114)CAG>CAC p.Q38H KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.Q38H NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 38 IBB. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) CTTCTCTTTTCTGCTTTCGTA 0.373 NaN 0 0 0 0.005443 0 26 183 PARP9 83666 broad.mit.edu 37 3 122255822 122255822 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:122255822G>C uc010hri.2 - 9 2114 c.1969C>G c.(1969-1971)CAA>GAA p.Q657E PARP9_uc003eff.3_Missense_Mutation_p.Q622E|PARP9_uc011bjs.1_Missense_Mutation_p.Q622E|PARP9_uc003efg.2_Missense_Mutation_p.Q202E|PARP9_uc003efi.2_Missense_Mutation_p.Q622E|PARP9_uc003efh.2_Missense_Mutation_p.Q657E|PARP9_uc003efj.2_Missense_Mutation_p.Q622E NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 657 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) TGTTTCTTTTGATCTAGAAGC 0.353 NaN 0 0 0 0.01441 0 50 290 PARP14 54625 broad.mit.edu 37 3 122447406 122447406 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:122447406C>G uc003efq.3 + 17 5427 c.5368C>G c.(5368-5370)CAA>GAA p.Q1790E PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Q1507E NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1790 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) TTATGACTACCAAGCATACCC 0.368 NaN 0 0 0 0.010771 0 43 256 PDIA5 10954 broad.mit.edu 37 3 122865043 122865043 + Missense_Mutation SNP A A T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:122865043A>T uc003egc.1 + 13 1135 c.1079A>T c.(1078-1080)AAT>ATT p.N360I PDIA5_uc003egd.1_RNA NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 360 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) TATTTTAAGAATGGAGAGAAA 0.468 NaN 0 0 0 0.00623 0 41 303 ADCY5 111 broad.mit.edu 37 3 123051504 123051504 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:123051504G>C uc003egh.1 - 4 1425 c.1425C>G c.(1423-1425)ATC>ATG p.I475M ADCY5_uc003egg.1_Missense_Mutation_p.I108M|ADCY5_uc003egi.1_Missense_Mutation_p.I34M NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 475 Guanylate cyclase 1.|Cytoplasmic (Potential). Magnesium 2; via carbonyl oxygen (By similarity). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGAAGCCCTCGATGTCAGCAA 0.448 NaN 0 0 0 0.001168 0 5 60 KALRN 8997 broad.mit.edu 37 3 123987680 123987680 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:123987680G>C uc003ehg.2 + 5 668 c.541G>C c.(541-543)GAG>CAG p.E181Q KALRN_uc010hrv.1_Missense_Mutation_p.E181Q|KALRN_uc003ehf.1_Missense_Mutation_p.E181Q|KALRN_uc011bjy.1_Missense_Mutation_p.E181Q NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 181 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTACAACCATGAGGAGTGGAT 0.612 NaN 0 0 0 0.01441 0 63 88 KALRN 8997 broad.mit.edu 37 3 123987800 123987800 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:123987800G>A uc003ehg.2 + 5 788 c.661G>A c.(661-663)GAG>AAG p.E221K KALRN_uc010hrv.1_Missense_Mutation_p.E221K|KALRN_uc003ehf.1_Missense_Mutation_p.E221K|KALRN_uc011bjy.1_Missense_Mutation_p.E221K NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 221 Spectrin 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TGTGGATGTGGAGGGCTCTCG 0.627 NaN 0 0 0 0.007291 0 30 26 C3orf37 56941 broad.mit.edu 37 3 129020945 129020945 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:129020945C>G uc003elt.2 + 6 876 c.788C>G c.(787-789)ACT>AGT p.T263S C3orf37_uc003elu.2_Missense_Mutation_p.T221S|C3orf37_uc003elv.2_Missense_Mutation_p.T263S|C3orf37_uc003elw.2_Missense_Mutation_p.T263S NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 263 ovary(1) 1 CGAAACAACACTCCTGAGTGT 0.483 NaN 0 0 0 0.003755 0 33 189 C3orf37 56941 broad.mit.edu 37 3 129023525 129023525 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:129023525G>C uc003elt.2 + 7 1010 c.922G>C c.(922-924)GAG>CAG p.E308Q C3orf37_uc003elu.2_Missense_Mutation_p.E266Q|C3orf37_uc003elv.2_Missense_Mutation_p.E308Q|C3orf37_uc003elw.2_Missense_Mutation_p.E308Q NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 308 ovary(1) 1 TCAAAAGGAAGAGTCAGATGT 0.532 NaN 0 0 0 0.012213 0 32 135 PLXND1 23129 broad.mit.edu 37 3 129282030 129282030 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:129282030G>A uc003emx.2 - 26 4675 c.4575C>T c.(4573-4575)ATC>ATT p.I1525I PLXND1_uc011blb.1_Silent_p.I193I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1525 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGCCCTTGTTGATTTGCTGCT 0.617 NaN 0 0 0 0.013537 0 12 44 COL6A6 131873 broad.mit.edu 37 3 130290018 130290018 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:130290018G>A uc010htl.2 + 6 2789 c.2758G>A c.(2758-2760)GAT>AAT p.D920N NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 920 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TGTGATCACCGATGGGGAATC 0.557 NaN 0 0 0 0.003163 0 15 68 PIK3R4 30849 broad.mit.edu 37 3 130464024 130464024 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:130464024G>C uc003enj.2 - 2 620 c.39C>G c.(37-39)ATC>ATG p.I13M NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 13 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 CTACAGAAAGGATCTGGGAGG 0.398 NaN 0 0 0 0.00499 0 16 99 BFSP2 8419 broad.mit.edu 37 3 133185754 133185754 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:133185754C>T uc003epn.1 + 5 1112 c.974C>T c.(973-975)TCG>TTG p.S325L NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 325 Rod.|Potential. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 CACAACACTTCGTGCCAAGTC 0.562 NaN 0 0 0 0.00278 0 23 143 TXNDC6 347736 broad.mit.edu 37 3 138033219 138033219 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:138033219C>T uc003esg.2 - 6 443 c.415G>A c.(415-417)GAA>AAA p.E139K TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E54K|TXNDC6_uc003ese.1_Missense_Mutation_p.E78K NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 139 cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 GAAACACATTCATCTTCATCA 0.358 NaN 0 0 0 0.010771 0 43 295 PIK3CB 5291 broad.mit.edu 37 3 138374293 138374293 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:138374293C>T uc011bmq.1 - 22 3151 c.3151G>A c.(3151-3153)GAA>AAA p.E1051K PIK3CB_uc011bmn.1_Missense_Mutation_p.E563K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E502K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E638K|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1051 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GTCCAGCTTTCCCTGAGCGCC 0.423 NaN 0 0 0 0.01441 0 56 116 PIK3CB 5291 broad.mit.edu 37 3 138374305 138374305 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:138374305C>T uc011bmq.1 - 22 3139 c.3139G>A c.(3139-3141)GAG>AAG p.E1047K PIK3CB_uc011bmn.1_Missense_Mutation_p.E559K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E498K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E634K|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1047 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 CTGAGCGCCTCATCAAATTTT 0.408 NaN 0 0 0 0.01441 0 56 117 PIK3CB 5291 broad.mit.edu 37 3 138374308 138374308 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:138374308C>T uc011bmq.1 - 22 3136 c.3136G>A c.(3136-3138)GAT>AAT p.D1046N PIK3CB_uc011bmn.1_Missense_Mutation_p.D558N|PIK3CB_uc011bmo.1_Missense_Mutation_p.D497N|PIK3CB_uc011bmp.1_Missense_Mutation_p.D633N|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1046 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AGCGCCTCATCAAATTTTTGC 0.408 NaN 0 0 0 0.01441 0 56 118 PIK3CB 5291 broad.mit.edu 37 3 138433362 138433362 + Missense_Mutation SNP G G A rs143122477 by1000genomes TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:138433362G>A uc011bmq.1 - 7 1250 c.1250C>T c.(1249-1251)ACG>ATG p.T417M PIK3CB_uc011bmo.1_Translation_Start_Site|PIK3CB_uc011bmp.1_Missense_Mutation_p.T21M NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 417 Nuclear localization signal.|C2 PI3K-type. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AATAGTTTTCGTTGATTTCTT 0.318 NaN 0 0 0 0.01441 0 54 56 CLSTN2 64084 broad.mit.edu 37 3 140185546 140185546 + Silent SNP C C T rs139804872 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:140185546C>T uc003etn.2 + 8 1507 c.1317C>T c.(1315-1317)CCC>CCT p.P439P CLSTN2_uc003etm.2_Silent_p.P439P NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 439 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CCTTTCGCCCCGCGGAGTTCC 0.567 NaN HNSCC(16;0.037) 0 0 0 0.004007 0 15 105 TRIM42 287015 broad.mit.edu 37 3 140401335 140401335 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:140401335G>C uc003eto.1 + 2 564 c.373G>C c.(373-375)GAT>CAT p.D125H NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 125 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TGGGAGCAGCGATACCCAGGT 0.557 NaN 0 0 0 0.010504 0 15 154 COMMD2 51122 broad.mit.edu 37 3 149459490 149459490 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:149459490G>A uc003exk.2 - 5 465 c.418C>T c.(418-420)CTC>TTC p.L140F COMMD2_uc003exj.1_5'Flank NM_016094 NP_057178 Q86X83 COMD2_HUMAN COMM domain containing 2 140 COMM. protein binding 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGTTGCCTGAGACTTCTACTT 0.333 NaN 0 0 0 0.00278 0 23 214 PLCH1 23007 broad.mit.edu 37 3 155199659 155199659 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:155199659G>C uc011bok.1 - 23 4457 c.4180C>G c.(4180-4182)CAG>GAG p.Q1394E PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.Q1356E NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1394 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) ACCACACCCTGATTGTACTTG 0.403 NaN 0 0 0 0.013726 0 32 183 TRIM59 286827 broad.mit.edu 37 3 160156857 160156857 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:160156857G>A uc003fdm.2 - 3 310 c.115C>T c.(115-117)CAG>TAG p.Q39* IFT80_uc003fda.2_RNA NM_173084 NP_775107 Q8IWR1 TRI59_HUMAN tripartite motif-containing 59 39 RING-type. integral to membrane|intracellular zinc ion binding 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CCAGATGCCTGAAGAATGTTT 0.368 NaN 0 0 0 0.008871 0 18 131 PDCD10 11235 broad.mit.edu 37 3 167414911 167414911 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:167414911C>G uc003fex.2 - 5 552 c.154G>C c.(154-156)GAA>CAA p.E52Q PDCD10_uc003fez.2_Missense_Mutation_p.E52Q|PDCD10_uc003fey.2_Missense_Mutation_p.E52Q NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 52 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 TTTTCTTTTTCAGCCTATAAT 0.343 NaN Familial_Cerebral_Cavernous_Angioma 0 0 0 0.006122 0 18 89 GOLIM4 27333 broad.mit.edu 37 3 167759263 167759263 + Splice_Site SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:167759263C>G uc003ffe.2 - 6 862 c.518_splice c.e6-1 p.E173_splice GOLIM4_uc011bpe.1_Splice_Site_p.E173_splice|GOLIM4_uc011bpf.1_Splice_Site_p.E173_splice|GOLIM4_uc011bpg.1_Splice_Site_p.E173_splice NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TATACAGTCTCTATTTTAGAA 0.318 NaN 0 0 0 0.010729 0 12 81 MECOM 2122 broad.mit.edu 37 3 168807914 168807915 + Missense_Mutation DNP TC TC AT TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:168807914_168807915TC>AT uc003ffi.3 - 14 2979_2980 c.2710_2711GA>AT c.(2710-2712)GAA>ATA p.E904I MECOM_uc010hwk.1_Missense_Mutation_p.E918I|MECOM_uc003ffj.3_Missense_Mutation_p.E969I|MECOM_uc011bpi.1_Missense_Mutation_p.E896I|MECOM_uc003ffn.3_Missense_Mutation_p.E904I|MECOM_uc003ffk.2_Missense_Mutation_p.E895I|MECOM_uc003ffl.2_Missense_Mutation_p.E1055I|MECOM_uc011bpj.1_Missense_Mutation_p.E1092I|MECOM_uc011bpk.1_Missense_Mutation_p.E894I NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 904 Asp/Glu-rich (acidic). apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 ATCATTGTCTTCATCCTCCTCA 0.401 NaN 0 0 0 0.004672 0 160 226 ECE2 9718 broad.mit.edu 37 3 184009972 184009972 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:184009972C>T uc003fni.3 + 19 2636 c.2598C>T c.(2596-2598)TTC>TTT p.F866F ECE2_uc003fnl.3_Silent_p.F794F|ECE2_uc003fnm.3_Silent_p.F748F|ECE2_uc003fnk.3_Silent_p.F719F NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 866 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCGGCACTTCGGCTGCCCTG 0.657 NaN 0 0 0 0.009535 0 29 154 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:184870595G>A uc003fpd.2 - 1 208 c.17C>T c.(16-18)TCG>TTG p.S6L NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 6 0 CGACGCCGGCGAGGCCGCCGC 0.716 NaN 0 0 0 0.004656 0 23 27 DNAJB11 51726 broad.mit.edu 37 3 186299204 186299204 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:186299204G>A uc003fqi.2 + 5 721 c.501G>A c.(499-501)CGG>CGA p.R167R NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 167 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) CTGGCAAACGGAAGTGCAATT 0.517 NaN 0 0 0 0.00333 0 24 158 RFC4 5984 broad.mit.edu 37 3 186510677 186510677 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:186510677G>A uc003fqz.2 - 6 693 c.470C>T c.(469-471)TCA>TTA p.S157L RFC4_uc011bsc.1_Missense_Mutation_p.S157L|RFC4_uc011bsd.1_Missense_Mutation_p.S157L NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 157 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTGAGCAGCTGAGGTCATAGA 0.428 NaN 0 0 0 0.013537 0 13 87 RFC4 5984 broad.mit.edu 37 3 186512523 186512523 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:186512523C>T uc003fqz.2 - 5 557 c.334G>A c.(334-336)GAT>AAT p.D112N RFC4_uc011bsc.1_Missense_Mutation_p.D112N|RFC4_uc011bsd.1_Missense_Mutation_p.D112N NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 112 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CCACGTTCATCAGATGCATTT 0.368 NaN 0 0 0 0.00499 0 16 101 TPRG1 285386 broad.mit.edu 37 3 188925327 188925327 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:188925327C>G uc003frv.1 + 7 1381 c.154C>G c.(154-156)CTT>GTT p.L52V TPRG1_uc003frw.1_Missense_Mutation_p.L52V NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 52 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CGAATCAACTCTTTACCCCAA 0.438 NaN 0 0 0 0.01441 0 48 185 OPA1 4976 broad.mit.edu 37 3 193353228 193353228 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:193353228G>A uc003ftm.2 + 7 934 c.700G>A c.(700-702)GAA>AAA p.E234K OPA1_uc003ftg.2_Missense_Mutation_p.E289K|OPA1_uc003fth.2_Missense_Mutation_p.E253K|OPA1_uc003fti.2_Missense_Mutation_p.E271K|OPA1_uc003ftj.2_Missense_Mutation_p.E252K|OPA1_uc003ftk.2_Missense_Mutation_p.E235K|OPA1_uc003ftl.2_Missense_Mutation_p.E216K|OPA1_uc003ftn.2_Missense_Mutation_p.E198K NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 234 Mitochondrial intermembrane (By similarity).|Potential. apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GAGAATCTTGGAACGATTAGA 0.289 NaN 0 0 0 0.007413 0 18 120 OPA1 4976 broad.mit.edu 37 3 193364936 193364936 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:193364936G>C uc003ftm.2 + 17 1906 c.1672G>C c.(1672-1674)GAG>CAG p.E558Q OPA1_uc003ftg.2_Missense_Mutation_p.E613Q|OPA1_uc003fth.2_Missense_Mutation_p.E577Q|OPA1_uc003fti.2_Missense_Mutation_p.E595Q|OPA1_uc003ftj.2_Missense_Mutation_p.E576Q|OPA1_uc003ftk.2_Missense_Mutation_p.E559Q|OPA1_uc003ftl.2_Missense_Mutation_p.E540Q|OPA1_uc003ftn.2_Missense_Mutation_p.E522Q NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 558 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AATGGTACGAGAGTCTGTTGA 0.358 NaN 0 0 0 0.000602 0 4 63 DLG1 1739 broad.mit.edu 37 3 196778504 196778504 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr3:196778504C>T uc003fxo.3 - 25 2742 c.2552G>A c.(2551-2553)AGA>AAA p.R851K DLG1_uc011bub.1_Missense_Mutation_p.R747K|DLG1_uc011buc.1_Missense_Mutation_p.R735K|DLG1_uc011bud.1_Missense_Mutation_p.R534K|DLG1_uc003fxn.3_Missense_Mutation_p.R873K|DLG1_uc011bue.1_Missense_Mutation_p.R839K|DLG1_uc010ial.2_Missense_Mutation_p.R851K NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 851 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) AAATGTTTTTCTGGCTTGTTC 0.328 NaN 0 0 0 0.00245 0 13 137 HAUS3 79441 broad.mit.edu 37 4 2233842 2233842 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:2233842G>C uc003ges.1 - 5 1854 c.1624C>G c.(1624-1626)CTA>GTA p.L542V POLN_uc003ger.2_5'Flank|POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Missense_Mutation_p.L542V NM_024511 NP_078787 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 542 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle large_intestine(2)|breast(2) 4 AGATGATTTAGCTTATTCAGT 0.264 NaN 0 0 0 0.013537 0 10 60 HTT 3064 broad.mit.edu 37 4 3208288 3208288 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:3208288C>T uc011bvq.1 + 44 5935 c.5790C>T c.(5788-5790)ATC>ATT p.I1930I NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1928 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AAGATCTGATCAGCCTTTCCC 0.473 NaN 0 0 0 0.00278 0 25 112 MAN2B2 23324 broad.mit.edu 37 4 6606942 6606942 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:6606942G>A uc003gjf.1 + 11 1736 c.1700G>A c.(1699-1701)CGC>CAC p.R567H MAN2B2_uc003gje.1_Missense_Mutation_p.R567H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R516H NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 567 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 CAATTTGGCCGCAGGCTGAGG 0.617 NaN 0 0 0 0.014323 0 14 35 CC2D2A 57545 broad.mit.edu 37 4 15529226 15529226 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:15529226G>A uc010idv.2 + 13 1551 c.1306G>A c.(1306-1308)GAC>AAC p.D436N CC2D2A_uc003gnx.2_Missense_Mutation_p.D387N|CC2D2A_uc003gnv.2_Missense_Mutation_p.D436N NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 436 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 CCAGTTATATGACCAGTACCT 0.408 NaN 0 0 0 0.001984 0 6 31 PCDH7 5099 broad.mit.edu 37 4 30723906 30723906 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:30723906C>T uc003gsk.1 + 1 1870 c.862C>T c.(862-864)CGC>TGC p.R288C PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Missense_Mutation_p.R288C NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 288 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CGACCCGCCTCGCTCCTCGCA 0.672 NaN 0 0 0 0.004672 0 3 5 GABRG1 2565 broad.mit.edu 37 4 46060556 46060556 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:46060556G>C uc003gxb.2 - 6 861 c.709C>G c.(709-711)CAG>GAG p.Q237E NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 237 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AATGCAAACTGATATAATCTC 0.353 NaN 0 0 0 0.00499 0 16 74 GABRA4 2557 broad.mit.edu 37 4 46967025 46967025 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:46967025G>C uc003gxg.2 - 8 1235 c.1096C>G c.(1096-1098)CCA>GCA p.P366A NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 366 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCTGCACTGGAGCAGCGGGA 0.433 NaN 0 0 0 0.00278 0 20 83 OCIAD2 132299 broad.mit.edu 37 4 48901920 48901920 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:48901920G>C uc003gyt.2 - 3 292 c.89C>G c.(88-90)TCA>TGA p.S30* OCIAD2_uc003gyu.2_Nonsense_Mutation_p.S30* NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 isoform 1 30 OCIA. endosome 0 GTGCAGTTTTGATTTTGGACA 0.393 NaN 0 0 0 0.010729 0 10 112 TMPRSS11F 389208 broad.mit.edu 37 4 68935699 68935699 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:68935699G>C uc003hdt.1 - 6 590 c.541C>G c.(541-543)CTT>GTT p.L181V LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 181 Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CTGTTGAGAAGATTCCTCATC 0.333 NaN 0 0 0 0.013114 0 38 205 IL8 3576 broad.mit.edu 37 4 74607297 74607297 + Missense_Mutation SNP C C G rs149273289 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:74607297C>G uc003hhe.2 + 2 204 c.103C>G c.(103-105)CAG>GAG p.Q35E IL8_uc011cbh.1_Missense_Mutation_p.Q35E NM_000584 NP_000575 P10145 IL8_HUMAN interleukin 8 precursor 35 angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication extracellular space|intracellular chemokine activity|interleukin-8 receptor binding ovary(2) 2 Breast(15;0.00102) all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) LUSC - Lung squamous cell carcinoma(721;0.008) Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744) ACTTAGATGTCAGTGCATAAA 0.423 NaN 0 0 0 0.006122 0 16 58 CXCL5 6374 broad.mit.edu 37 4 74863775 74863775 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:74863775G>C uc003hhk.2 - 3 398 c.280C>G c.(280-282)CCA>GCA p.P94A NM_002994 NP_002985 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 precursor 94 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity 0 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) GGGGCTTCTGGATCAAGACAA 0.433 NaN 0 0 0 0.012213 0 32 137 HPSE 10855 broad.mit.edu 37 4 84230599 84230599 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:84230599C>T uc003hoj.3 - 7 1039 c.940G>A c.(940-942)GAT>AAT p.D314N HPSE_uc010ika.2_Missense_Mutation_p.D256N|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.D57N|HPSE_uc011cct.1_Missense_Mutation_p.D314N|HPSE_uc003hok.3_Missense_Mutation_p.D314N NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 314 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TCCAATACATCAGGGTTTAGA 0.279 NaN 0 0 0 0.006122 0 15 74 HPSE 10855 broad.mit.edu 37 4 84231203 84231203 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:84231203C>G uc003hoj.3 - 6 970 c.871G>C c.(871-873)GAT>CAT p.D291H HPSE_uc010ika.2_Missense_Mutation_p.D233H|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.D34H|HPSE_uc011cct.1_Missense_Mutation_p.D291H|HPSE_uc003hok.3_Missense_Mutation_p.D291H NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 291 D -> G (in Ref. 9; BAD96706). carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) GTAACTGAATCAATCACTTCT 0.308 NaN 0 0 0 0.005524 0 34 185 HPGDS 27306 broad.mit.edu 37 4 95223298 95223298 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:95223298G>A uc003hte.1 - 5 525 c.434C>T c.(433-435)TCT>TTT p.S145F NM_014485 NP_055300 O60760 HPGDS_HUMAN prostaglandin D2 synthase, hematopoietic 145 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity ovary(1) 1 Glutathione(DB00143) CATACTCACAGAGTTACCAAT 0.363 NaN 0 0 0 0.01441 0 76 195 SEC24B 10427 broad.mit.edu 37 4 110442741 110442741 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:110442741C>T uc003hzk.2 + 14 2522 c.2467C>T c.(2467-2469)CTG>TTG p.L823L SEC24B_uc003hzl.2_Silent_p.L788L|SEC24B_uc011cfp.1_Silent_p.L853L|SEC24B_uc011cfq.1_Silent_p.L822L|SEC24B_uc011cfr.1_Silent_p.L787L NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 823 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGCAGGACTTCTGCAATCCAG 0.383 NaN 0 0 0 0.001855 0 11 31 NDST3 9348 broad.mit.edu 37 4 119163257 119163257 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:119163257G>C uc003ibx.2 + 12 2755 c.2352G>C c.(2350-2352)CAG>CAC p.Q784H NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 784 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 ATGAAGTACAGAAGTTTCTAG 0.303 NaN 0 0 0 0.01441 0 46 146 FAT4 79633 broad.mit.edu 37 4 126241888 126241888 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:126241888C>T uc003ifj.3 + 1 4322 c.4322C>T c.(4321-4323)TCA>TTA p.S1441L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1441 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCTGTCATTTCAGTGACTGCA 0.418 NaN 0 0 0 0.009718 0 38 149 FAT4 79633 broad.mit.edu 37 4 126371358 126371358 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:126371358G>C uc003ifj.3 + 9 9187 c.9187G>C c.(9187-9189)GAT>CAT p.D3063H FAT4_uc011cgp.1_Missense_Mutation_p.D1361H|FAT4_uc003ifi.1_Missense_Mutation_p.D541H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3063 Extracellular (Potential).|Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CACTGCAAAGGATAAGGGAAA 0.418 NaN 0 0 0 0.004656 0 25 65 FAT4 79633 broad.mit.edu 37 4 126371891 126371891 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:126371891C>G uc003ifj.3 + 9 9720 c.9720C>G c.(9718-9720)CTC>CTG p.L3240L FAT4_uc011cgp.1_Silent_p.L1538L|FAT4_uc003ifi.1_Silent_p.L718L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3240 Cadherin 31.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACAGTGACCTCTTTGTCATTG 0.443 NaN 0 0 0 0.012319 0 23 117 C4orf29 80167 broad.mit.edu 37 4 128938605 128938605 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:128938605G>A uc003ifr.2 + 9 876 c.558G>A c.(556-558)GAG>GAA p.E186E C4orf29_uc003ifs.2_Silent_p.E80E|C4orf29_uc003ift.2_Silent_p.E17E|C4orf29_uc003ifu.2_Silent_p.E17E|C4orf29_uc010inz.2_Intron|C4orf29_uc003ifv.2_Silent_p.E17E NM_001039717 NP_001034806 Q0P651 CD029_HUMAN hypothetical protein LOC80167 precursor 186 extracellular region ovary(1) 1 ACTGGCTAGAGAGGGAAGGTT 0.418 NaN 0 0 0 0.00308 0 8 16 ZNF330 27309 broad.mit.edu 37 4 142152618 142152618 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:142152618G>C uc003iiq.3 + 8 769 c.549G>C c.(547-549)CAG>CAC p.Q183H ZNF330_uc011chl.1_Missense_Mutation_p.Q123H NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 183 C4-type 4 (Potential). chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) GGCTTGGTCAGCACTCATGTC 0.353 NaN 0 0 0 0.011902 0 43 119 USP38 84640 broad.mit.edu 37 4 144107121 144107121 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:144107121G>A uc003ijb.2 + 1 1052 c.518G>A c.(517-519)CGA>CAA p.R173Q USP38_uc003ija.3_Missense_Mutation_p.R173Q|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 173 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) CAGCTGGTTCGAACGATAGGC 0.537 NaN 0 0 0 0.005524 0 37 135 PRSS48 345062 broad.mit.edu 37 4 152204409 152204409 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:152204409G>T uc011cif.1 + 4 622 c.622G>T c.(622-624)GAT>TAT p.D208Y PRSS48_uc011cig.1_Missense_Mutation_p.D65Y NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN epidermis-specific serine protease-like protein 208 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1) 1 TTGTGCTGGTGATACTCAAAA 0.413 NaN 1 0 1.28384e-07 0.012319 1.30923e-07 22 81 FBXW7 55294 broad.mit.edu 37 4 153249501 153249501 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:153249501G>A uc003ims.2 - 9 1426 c.1277C>T c.(1276-1278)TCA>TTA p.S426L FBXW7_uc011cii.1_Missense_Mutation_p.S426L|FBXW7_uc003imt.2_Missense_Mutation_p.S426L|FBXW7_uc011cih.1_Missense_Mutation_p.S250L|FBXW7_uc003imq.2_Missense_Mutation_p.S346L|FBXW7_uc003imr.2_Missense_Mutation_p.S308L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 426 WD 2. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CATTTGTGATGACCATACTCC 0.378 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.01441 0 67 229 RAPGEF2 9693 broad.mit.edu 37 4 160260433 160260433 + Nonsense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:160260433G>T uc003iqg.3 + 13 2288 c.1978G>T c.(1978-1980)GAG>TAG p.E660* NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 660 Ras-associating. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGTCACACCTGAGGGAGTAAT 0.433 NaN 1 0 4.86159e-25 0.01441 5.0578e-25 50 202 KLHL2 11275 broad.mit.edu 37 4 166220763 166220763 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:166220763G>T uc003irb.2 + 8 1135 c.876G>T c.(874-876)ATG>ATT p.M292I KLHL2_uc011cjm.1_Missense_Mutation_p.M296I|KLHL2_uc003irc.2_Missense_Mutation_p.M204I|KLHL2_uc010ira.2_5'UTR NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 292 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) GTATATTAATGAAGAGTGTCC 0.433 NaN 1 0 7.07758e-08 0.004656 7.22552e-08 27 69 DDX60 55601 broad.mit.edu 37 4 169215078 169215078 + Missense_Mutation SNP G G C rs138195535 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:169215078G>C uc003irp.2 - 7 1034 c.742C>G c.(742-744)CTG>GTG p.L248V NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 248 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGTGTAAGCAGAGATACAGTC 0.323 NaN 0 0 0 0.00278 0 23 92 WDR17 116966 broad.mit.edu 37 4 177052884 177052884 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:177052884G>C uc003iuj.2 + 8 1321 c.1165G>C c.(1165-1167)GAC>CAC p.D389H WDR17_uc003iuk.2_Missense_Mutation_p.D365H|WDR17_uc003ium.3_Missense_Mutation_p.D365H|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 389 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTTTCTTAGAGACTTGGTATG 0.338 NaN 0 0 0 0.00499 0 16 252 DCTD 1635 broad.mit.edu 37 4 183836719 183836719 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:183836719C>G uc003ivf.2 - 2 177 c.3G>C c.(1-3)ATG>ATC p.M1I DCTD_uc003ivg.2_Missense_Mutation_p.M12I|DCTD_uc010irw.2_5'UTR|DCTD_uc003ivh.2_5'UTR NM_001921 NP_001912 P32321 DCTD_HUMAN dCMP deaminase isoform b 1 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding 0 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) AAACTTCACTCATGTTGGGTC 0.398 NaN 0 0 0 0.009535 0 29 111 WWC2 80014 broad.mit.edu 37 4 184233512 184233512 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:184233512G>C uc010irx.2 + 22 3585 c.3403G>C c.(3403-3405)GAG>CAG p.E1135Q WWC2_uc003ivk.3_Missense_Mutation_p.E930Q|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.E817Q|WWC2_uc003ivn.3_Missense_Mutation_p.E650Q|WWC2_uc010irz.2_Missense_Mutation_p.E476Q|WWC2_uc003ivo.3_Missense_Mutation_p.E263Q NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1135 Potential. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GTCCAAAGAAGAGCAGAAGCA 0.478 NaN 0 0 0 0.003755 0 33 132 SNX25 83891 broad.mit.edu 37 4 186188198 186188198 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:186188198G>A uc003ixh.2 + 5 677 c.488G>A c.(487-489)AGA>AAA p.R163K NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 163 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CTGGCGTACAGAGAGCAAATG 0.458 NaN 0 0 0 0.01441 0 53 146 CEP72 55722 broad.mit.edu 37 5 637659 637659 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:637659C>G uc003jbf.2 + 7 1004 c.932C>G c.(931-933)TCT>TGT p.S311C CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 311 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GACTCGGCCTCTTCTCAGAAG 0.532 NaN 0 0 0 0.006122 0 16 66 SLC12A7 10723 broad.mit.edu 37 5 1064231 1064231 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:1064231G>C uc003jbu.2 - 19 2640 c.2574C>G c.(2572-2574)CTC>CTG p.L858L NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 858 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GCAGCAGCATGAGCATGCCGC 0.697 NaN 0 0 0 0.000602 0 5 20 SLC6A19 340024 broad.mit.edu 37 5 1221314 1221314 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:1221314C>T uc003jbw.3 + 11 1643 c.1587C>T c.(1585-1587)TTC>TTT p.F529F NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 529 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCAACATCTTCTGGCAAGTCA 0.547 NaN 0 0 0 0.008291 0 10 32 ADCY2 108 broad.mit.edu 37 5 7816985 7816985 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:7816985G>A uc003jdz.1 + 23 2957 c.2890G>A c.(2890-2892)GAG>AAG p.E964K ADCY2_uc011cmo.1_Missense_Mutation_p.E784K|ADCY2_uc010itm.1_Missense_Mutation_p.E160K NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 964 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCAGGAGCCCGAGCGGCAGTA 0.502 NaN OREG0016499 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 20 89 MARCH6 10299 broad.mit.edu 37 5 10403539 10403539 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:10403539G>C uc003jet.1 + 15 1401 c.1218G>C c.(1216-1218)CTG>CTC p.L406L MARCH6_uc011cmu.1_Silent_p.L358L|MARCH6_uc003jeu.1_Silent_p.L104L|MARCH6_uc011cmv.1_Silent_p.L301L NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 406 Extracellular (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 ATGCTACTCTGAAAGATCGAG 0.418 NaN 0 0 0 0.007291 0 28 79 MARCH11 441061 broad.mit.edu 37 5 16177875 16177875 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:16177875C>T uc003jfo.2 - 2 866 c.653G>A c.(652-654)AGA>AAA p.R218K uc003jfp.2_5'Flank NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 218 RING-CH-type. cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 AACATGGTATCTATAACAGCA 0.398 NaN 0 0 0 0.001855 0 13 51 PTGER4 5734 broad.mit.edu 37 5 40692015 40692015 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:40692015G>C uc003jlz.2 + 3 1594 c.1002G>C c.(1000-1002)AAG>AAC p.K334N NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 334 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 TCCTGAGAAAGACAGTGCTCA 0.507 NaN 0 0 0 0.01441 0 54 145 GPBP1 65056 broad.mit.edu 37 5 56545357 56545357 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:56545357G>C uc003jrh.3 + 9 2200 c.926G>C c.(925-927)AGA>ACA p.R309T GPBP1_uc010iwg.2_Missense_Mutation_p.R329T|GPBP1_uc003jri.3_Missense_Mutation_p.R138T|GPBP1_uc003jrj.3_Missense_Mutation_p.R301T|GPBP1_uc003jrk.3_Missense_Mutation_p.R316T|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AAAAGAGACAGAGTAGAAGAG 0.373 NaN 0 0 0 0.00499 0 17 48 SLC30A5 64924 broad.mit.edu 37 5 68412387 68412387 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:68412387G>A uc003jvh.2 + 10 1440 c.1239G>A c.(1237-1239)GAG>GAA p.E413E SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Silent_p.E142E|SLC30A5_uc003jvi.2_Silent_p.E242E NM_022902 NP_075053 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), 413 Cytoplasmic (Potential). cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity central_nervous_system(1) 1 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TTCTTGAGGAGAGTGACTCTA 0.328 NaN 0 0 0 0.008291 0 10 68 CCDC125 202243 broad.mit.edu 37 5 68616292 68616292 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:68616292C>A uc003jvv.1 - 1 119 c.76G>T c.(76-78)GGT>TGT p.G26C CCDC125_uc003jvx.1_Missense_Mutation_p.G26C|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Missense_Mutation_p.G26C NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 26 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CCTAAATCACCTTCTGTCATG 0.433 NaN 1 0 6.44725e-10 0.014323 6.60381e-10 21 137 MAP1B 4131 broad.mit.edu 37 5 71491837 71491837 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:71491837C>T uc003kbw.3 + 5 2896 c.2655C>T c.(2653-2655)ACC>ACT p.T885T MAP1B_uc010iyw.1_Silent_p.T902T|MAP1B_uc010iyx.1_Silent_p.T759T|MAP1B_uc010iyy.1_Silent_p.T759T NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 885 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAGAAGTCACCAAAGGTCCTG 0.547 NaN 0 0 0 0.01441 0 50 181 BHMT2 23743 broad.mit.edu 37 5 78373343 78373343 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:78373343G>C uc003kft.2 + 2 97 c.74G>C c.(73-75)GGA>GCA p.G25A BHMT2_uc011cth.1_Missense_Mutation_p.G25A NM_017614 NP_060084 Q9H2M3 BHMT2_HUMAN betaine-homocysteine methyltransferase 2 25 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GTTGTGATTGGAGATGGCAGC 0.488 NaN 0 0 0 0.004878 0 38 159 CMYA5 202333 broad.mit.edu 37 5 79027767 79027767 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:79027767C>T uc003kgc.2 + 2 3251 c.3179C>T c.(3178-3180)TCA>TTA p.S1060L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1060 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAGTTCAGTTCATCACAGAAG 0.428 NaN 0 0 0 0.008291 0 9 36 GPR98 84059 broad.mit.edu 37 5 90449160 90449160 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:90449160G>A uc003kju.2 + 89 18843 c.18747G>A c.(18745-18747)CTG>CTA p.L6249L GPR98_uc003kjt.2_Silent_p.L3955L|GPR98_uc003kjw.2_Silent_p.L1910L|GPR98_uc003kjx.2_Silent_p.L277L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6249 Cytoplasmic (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGGGTCACTGATAGCCGATG 0.478 NaN 0 0 0 0.000602 0 5 27 CHD1 1105 broad.mit.edu 37 5 98207807 98207807 + Missense_Mutation SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:98207807T>C uc003knf.2 - 27 3957 c.3809A>G c.(3808-3810)TAT>TGT p.Y1270C CHD1_uc010jbn.2_Translation_Start_Site NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1270 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CCAGCTTCCATATCCATATTC 0.353 NaN 0 0 0 0.012213 0 34 144 SLCO4C1 353189 broad.mit.edu 37 5 101593786 101593786 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:101593786C>G uc003knm.2 - 7 1421 c.1134G>C c.(1132-1134)TTG>TTC p.L378F NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 378 Helical; Name=7; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CATTCTTCATCAAATTCTAAA 0.274 NaN 0 0 0 0.00278 0 23 55 NUDT12 83594 broad.mit.edu 37 5 102891757 102891757 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:102891757C>T uc003koi.2 - 4 932 c.839G>A c.(838-840)CGA>CAA p.R280Q NUDT12_uc011cvb.1_Missense_Mutation_p.R262Q NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 280 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AAACTTGTATCGACTGTGCCA 0.353 NaN 0 0 0 0.012319 0 19 92 FER 2241 broad.mit.edu 37 5 108281850 108281850 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:108281850C>G uc003kop.1 + 11 1640 c.1256C>G c.(1255-1257)TCC>TGC p.S419C FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.S244C NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 419 intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GAGAGGCTATCCAAATTTGAA 0.378 NaN 0 0 0 0.004878 0 32 112 CAMK4 814 broad.mit.edu 37 5 110818485 110818485 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:110818485C>T uc011cvj.1 + 11 930 c.831C>T c.(829-831)GTC>GTT p.V277V CAMK4_uc003kpf.2_Silent_p.V277V|CAMK4_uc010jbv.2_Silent_p.V80V|CAMK4_uc003kpg.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 277 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TATTTCAGGTCAGAAAATTAA 0.418 NaN 0 0 0 0.003163 0 15 95 TSSK1B 83942 broad.mit.edu 37 5 112769841 112769841 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:112769841G>A uc003kqm.2 - 1 888 c.696C>T c.(694-696)CGC>CGT p.R232R MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 232 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R232H(1) ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GGAAGTTGACGCGGTGCTCCT 0.587 NaN 0 0 0 0.00499 0 16 65 KCNN2 3781 broad.mit.edu 37 5 113831654 113831654 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:113831654G>C uc003kqo.2 + 8 1972 c.1515G>C c.(1513-1515)AAG>AAC p.K505N KCNN2_uc003kqp.2_Missense_Mutation_p.K157N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 505 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACTTCGAGAAGAGGATTGTTA 0.428 NaN 0 0 0 0.004878 0 38 160 SHROOM1 134549 broad.mit.edu 37 5 132160910 132160910 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:132160910G>A uc003kxx.2 - 4 1728 c.923C>T c.(922-924)TCA>TTA p.S308L SHROOM1_uc003kxy.1_Missense_Mutation_p.S308L NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 308 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACTTCGCCTGAAGCGCTCCG 0.617 NaN 0 0 0 0.001855 0 11 34 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905956 139905956 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:139905956C>G uc003lfs.1 + 26 4992 c.4868C>G c.(4867-4869)TCT>TGT p.S1623C ANKHD1_uc003lfr.2_Missense_Mutation_p.S1623C|ANKHD1_uc003lfu.1_Missense_Mutation_p.S1103C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S362C|ANKHD1_uc003lfw.2_Missense_Mutation_p.S261C|ANKHD1_uc010jfl.2_Missense_Mutation_p.S58C|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1623 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAATTCCTCTAAATACCCC 0.393 NaN 0 0 0 0.010818 0 33 104 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905979 139905979 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:139905979C>G uc003lfs.1 + 26 5015 c.4891C>G c.(4891-4893)CAT>GAT p.H1631D ANKHD1_uc003lfr.2_Missense_Mutation_p.H1631D|ANKHD1_uc003lfu.1_Missense_Mutation_p.H1111D|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.H370D|ANKHD1_uc003lfw.2_Missense_Mutation_p.H269D|ANKHD1_uc010jfl.2_Missense_Mutation_p.H66D|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1631 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGCTCCTTCATTCCCAAGA 0.418 NaN 0 0 0 0.003755 0 35 96 PCDHA7 56141 broad.mit.edu 37 5 140214299 140214299 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140214299G>A uc003lhq.2 + 1 331 c.331G>A c.(331-333)GAA>AAA p.E111K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.E111K NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 111 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGATCGTGGAAAGGCCGCT 0.557 NaN 0 0 0 0.004878 0 37 351 PCDHA9 9752 broad.mit.edu 37 5 140228411 140228411 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140228411G>A uc003lhu.2 + 1 1055 c.331G>A c.(331-333)GAC>AAC p.D111N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.D111N NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 111 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGATCGTAGACAGGCCGCT 0.547 NaN 0 0 0 0.00333 0 12 205 PCDHB7 56129 broad.mit.edu 37 5 140553716 140553716 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140553716G>A uc003lit.2 + 1 1474 c.1300G>A c.(1300-1302)GAG>AAG p.E434K NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 434 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGAAAACCGAGCACAACAT 0.537 NaN 0 0 0 0.005524 0 40 105 PCDHB14 56122 broad.mit.edu 37 5 140605331 140605331 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140605331G>A uc003ljb.2 + 1 2254 c.2254G>A c.(2254-2256)GAG>AAG p.E752K PCDHB14_uc011dal.1_Missense_Mutation_p.E599K NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 752 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACCAATACGAGGTGTGTCT 0.572 NaN 0 0 0 0.01441 0 42 154 PCDHGA7 56108 broad.mit.edu 37 5 140763130 140763130 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140763130C>T uc003lka.1 + 1 664 c.664C>T c.(664-666)CGA>TGA p.R222* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.R222* NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 222 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACCCGCCCCGATCCAGCAC 0.607 NaN 0 0 0 0.001984 0 7 15 PCDHGA9 56107 broad.mit.edu 37 5 140783493 140783493 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140783493G>A uc003lkh.1 + 1 974 c.974G>A c.(973-975)GGG>GAG p.G325E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.G325E NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 325 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGATGGTGGGGGATTGAAA 0.378 NaN 0 0 0 0.01441 0 41 131 PCDHGC5 56097 broad.mit.edu 37 5 140870089 140870089 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:140870089G>A uc003lla.1 + 1 1282 c.1282G>A c.(1282-1284)GAT>AAT p.D428N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D428N NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 428 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGCCAGCGATGCTGGTTC 0.512 NaN 0 0 0 0.01441 0 76 244 GLRA1 2741 broad.mit.edu 37 5 151231107 151231107 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:151231107C>G uc003lut.2 - 7 1043 c.756G>C c.(754-756)CTG>CTC p.L252L GLRA1_uc003lur.2_Silent_p.L252L|GLRA1_uc003lus.2_Silent_p.L169L NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 252 Helical; (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACATCTGAATCAGGTAGTAAC 0.468 NaN 0 0 0 0.008871 0 20 88 MRPL22 29093 broad.mit.edu 37 5 154330479 154330479 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:154330479G>C uc003lvy.3 + 3 214 c.176G>C c.(175-177)GGA>GCA p.G59A MRPL22_uc003lvz.3_Intron NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 59 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAACTGCCTGGAGAACCTCGG 0.373 NaN 0 0 0 0.00632 0 26 73 C5orf40 408263 broad.mit.edu 37 5 156770349 156770349 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:156770349G>C uc003lwu.2 - 2 384 c.196C>G c.(196-198)CTT>GTT p.L66V CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron NM_001001343 NP_001001343 Q8TBE3 FNDC9_HUMAN hypothetical protein LOC408263 66 Fibronectin type-III. integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAGGGGCAAGATGTTCCAGC 0.547 NaN 0 0 0 0.00278 0 24 92 C5orf54 63920 broad.mit.edu 37 5 159822236 159822236 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:159822236C>T uc003lye.1 - 2 726 c.262G>A c.(262-264)GAG>AAG p.E88K C5orf54_uc003lyf.1_Missense_Mutation_p.E88K NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 88 pancreas(1) 1 aaagtatcctcatgagatgca 0 NaN 0 0 0 0.01441 0 47 133 ODZ2 57451 broad.mit.edu 37 5 167553912 167553912 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:167553912G>A uc010jjd.2 + 12 2363 c.2363G>A c.(2362-2364)CGA>CAA p.R788Q ODZ2_uc003lzr.3_Missense_Mutation_p.R556Q|ODZ2_uc003lzt.3_Missense_Mutation_p.R152Q|ODZ2_uc010jje.2_Missense_Mutation_p.R59Q|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGTGAATGCCGAGAGGGCTGG 0.532 NaN 0 0 0 0.009096 0 4 11 RPL26L1 51121 broad.mit.edu 37 5 172386933 172386933 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:172386933C>T uc003mcc.2 + 2 99 c.57C>T c.(55-57)TTC>TTT p.F19F LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 19 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACGTCACTTCAATGCCCCCT 0.567 NaN 0 0 0 0.01441 0 52 216 ZNF354C 30832 broad.mit.edu 37 5 178506267 178506267 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr5:178506267G>T uc003mju.2 + 5 949 c.834G>T c.(832-834)GAG>GAT p.E278D NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 278 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) ATGAATGTGAGAAGGCATTTA 0.403 NaN 1 0 2.09667e-21 0.003755 2.17397e-21 38 96 CDYL 9425 broad.mit.edu 37 6 4943860 4943860 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:4943860C>G uc003mwi.2 + 7 1495 c.1364C>G c.(1363-1365)TCT>TGT p.S455C CDYL_uc003mwj.2_Missense_Mutation_p.S401C|CDYL_uc003mwk.2_Missense_Mutation_p.S166C|CDYL_uc011dhx.1_Missense_Mutation_p.S269C|CDYL_uc011dhy.1_Missense_Mutation_p.S269C NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 455 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CTAGGAGCATCTATATTGCCT 0.413 NaN 0 0 0 0.006999 0 35 136 RREB1 6239 broad.mit.edu 37 6 7231404 7231404 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:7231404C>T uc003mxc.2 + 10 3462 c.3072C>T c.(3070-3072)GTC>GTT p.V1024V RREB1_uc003mxb.2_Silent_p.V1024V|RREB1_uc010jnx.2_Silent_p.V1024V NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1024 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAGCCCTGGTCAGCAGCCCTC 0.706 NaN 0 0 0 0.00278 0 24 64 ZFP57 346171 broad.mit.edu 37 6 29641179 29641179 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:29641179C>T uc011dlw.1 - 4 860 c.709G>A c.(709-711)GAC>AAC p.D237N ZFP57_uc003nnl.3_Missense_Mutation_p.D217N NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 153 C2H2-type 3. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TAGGTCTTGTCACAGAGCGTG 0.572 NaN 0 0 0 0.005443 0 28 95 RNF39 80352 broad.mit.edu 37 6 30043478 30043478 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:30043478G>A uc003npe.2 - 1 151 c.89C>T c.(88-90)GCG>GTG p.A30V RNF39_uc003npd.2_Missense_Mutation_p.A30V NM_025236 NP_079512 Q9H2S5 RNF39_HUMAN ring finger protein 39 isoform 1 30 cytoplasm zinc ion binding 0 TCCGACTCCCGCATTAACTTT 0.607 NaN 0 0 0 0.008361 0 28 79 TRIM15 89870 broad.mit.edu 37 6 30139765 30139765 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:30139765C>G uc010jrx.2 + 7 1516 c.1037C>G c.(1036-1038)TCC>TGC p.S346C NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 346 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding 0 GGCTTCTCCTCCGGGCGCCAC 0.706 NaN 0 0 0 0.004672 0 2 5 MUC21 394263 broad.mit.edu 37 6 30954371 30954371 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:30954371C>G uc003nsh.2 + 2 670 c.419C>G c.(418-420)TCC>TGC p.S140C MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 140 28 X 15 AA approximate tandem repeats.|Ser-rich.|8.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 AACTCTGACTCCAGCACAACC 0.607 NaN 0 0 0 0.01441 0 52 222 BAT3 7917 broad.mit.edu 37 6 31609349 31609349 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:31609349G>A uc003nvg.3 - 17 2750 c.2436C>T c.(2434-2436)ATC>ATT p.I812I BAT3_uc003nvf.3_Silent_p.I806I|BAT3_uc003nvh.3_Silent_p.I806I|BAT3_uc003nvi.3_Silent_p.I806I|BAT3_uc011dnw.1_Silent_p.I806I|BAT3_uc011dnx.1_Silent_p.I680I NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 812 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 CTAGCCCCGTGATCAATGTGT 0.537 NaN 0 0 0 0.01441 0 62 112 MSH5 4439 broad.mit.edu 37 6 31710892 31710892 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:31710892G>A uc003nwv.1 + 5 439 c.360G>A c.(358-360)CAG>CAA p.Q120Q MSH5_uc003nwt.1_Silent_p.Q120Q|MSH5_uc003nwu.1_Silent_p.Q120Q|MSH5_uc003nww.1_Silent_p.Q120Q|MSH5_uc003nwx.1_Silent_p.Q120Q|MSH5_uc011dof.1_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 120 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CAGCCTCCCAGGAGCACAGAG 0.488 NaN Direct_reversal_of_damage|MMR 0 0 0 0.01441 0 82 103 C2 717 broad.mit.edu 37 6 31913003 31913003 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:31913003G>A uc003nyf.2 + 18 2392 c.2128G>A c.(2128-2130)GAC>AAC p.D710N C2_uc011doo.1_Missense_Mutation_p.D464N|C2_uc011dop.1_Missense_Mutation_p.D496N|C2_uc010jtk.2_Missense_Mutation_p.D578N|C2_uc011doq.1_Missense_Mutation_p.D681N|C2_uc003nyg.2_Missense_Mutation_p.D487N|CFB_uc011dor.1_Intron|C2_uc003nyh.1_Silent_p.*344*|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.3_5'Flank NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 710 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) TGGCTCTGCTGACAAAAACTC 0.592 NaN 0 0 0 0.010818 0 32 103 ITPR3 3710 broad.mit.edu 37 6 33660624 33660624 + Silent SNP G G A rs149058562 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:33660624G>A uc011drk.1 + 55 7797 c.7578G>A c.(7576-7578)GAG>GAA p.E2526E ITPR3_uc003oey.2_Silent_p.E613E NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2526 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 TGCGTAGTGAGAAGCAGAAGA 0.522 NaN 0 0 0 0.006999 0 41 64 ITPR3 3710 broad.mit.edu 37 6 33661456 33661456 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:33661456G>C uc011drk.1 + 56 7978 c.7759G>C c.(7759-7761)GAG>CAG p.E2587Q ITPR3_uc003oey.2_Missense_Mutation_p.E674Q NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2587 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CACGGGCCCTGAGAGCTACGT 0.552 NaN 0 0 0 0.008871 0 18 25 C6orf222 389384 broad.mit.edu 37 6 36298201 36298201 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:36298201C>G uc003oly.2 - 2 445 c.267G>C c.(265-267)CAG>CAC p.Q89H NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 89 skin(2)|ovary(1)|breast(1) 4 GCGAAGGCCTCTGCTCGCTGG 0.617 NaN 0 0 0 0.004289 0 34 121 PI16 221476 broad.mit.edu 37 6 36930731 36930731 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:36930731G>A uc003ona.2 + 5 941 c.613G>A c.(613-615)GAT>AAT p.D205N PI16_uc003omz.1_Missense_Mutation_p.D205N|PI16_uc003onb.2_Missense_Mutation_p.D205N|PI16_uc011dts.1_5'UTR NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 205 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 AAGCCCGGAAGATGCTCAGGA 0.542 NaN 0 0 0 0.003954 0 25 55 MDGA1 266727 broad.mit.edu 37 6 37620068 37620068 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:37620068C>T uc003onu.1 - 7 2210 c.1031G>A c.(1030-1032)AGT>AAT p.S344N MDGA1_uc003onw.3_RNA NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 344 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 GATGTTCTCACTCTCTTTGAT 0.567 NaN 0 0 0 0.004007 0 15 37 DNAH8 1769 broad.mit.edu 37 6 38834581 38834581 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:38834581C>G uc003ooe.1 + 45 6571 c.5971C>G c.(5971-5973)CTT>GTT p.L1991V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CTGTGGTTTTCTTGAAAATGT 0.308 NaN 0 0 0 0.00308 0 7 62 DNAH8 1769 broad.mit.edu 37 6 38881670 38881670 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:38881670C>T uc003ooe.1 + 65 9854 c.9254C>T c.(9253-9255)TCT>TTT p.S3085F uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GCTAAACTCTCTCAGGATCTT 0.368 NaN 0 0 0 0.005443 0 20 53 DNAH8 1769 broad.mit.edu 37 6 38957823 38957823 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:38957823C>T uc003ooe.1 + 86 13038 c.12438C>T c.(12436-12438)TTC>TTT p.F4146F NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AACCGTCATTCTGCTTTTATA 0.363 NaN 0 0 0 0.004289 0 37 149 PTK7 5754 broad.mit.edu 37 6 43114421 43114421 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:43114421C>T uc003oub.1 + 17 2904 c.2706C>T c.(2704-2706)CTC>CTT p.L902L PTK7_uc003ouc.1_Silent_p.L846L|PTK7_uc003oud.1_Silent_p.L862L|PTK7_uc003oue.1_Silent_p.L772L|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.L910L|PTK7_uc010jyj.1_Silent_p.L228L NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 902 Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CACAGCCCCTCAGCACCAAGC 0.488 NaN 0 0 0 0.003163 0 14 71 SPATS1 221409 broad.mit.edu 37 6 44310891 44310891 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:44310891C>G uc003oxk.2 + 1 406 c.59C>G c.(58-60)TCA>TGA p.S20* SPATS1_uc003oxg.2_Intron|SPATS1_uc010jzb.2_5'UTR NM_145026 NP_659463 Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 20 skin(1) 1 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCCTCCATCTCAAGCACGACC 0.512 NaN 0 0 0 0.003163 0 16 72 PKHD1 5314 broad.mit.edu 37 6 51929769 51929769 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:51929769G>A uc003pah.1 - 13 1236 c.960C>T c.(958-960)CTC>CTT p.L320L PKHD1_uc003pai.2_Silent_p.L320L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 320 IPT/TIG 3.|Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GAGGGGTGGTGAGCCTCACAT 0.448 NaN 0 0 0 0.00632 0 27 112 RIMS1 22999 broad.mit.edu 37 6 72957721 72957721 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:72957721C>T uc003pga.2 + 12 2209 c.2132C>T c.(2131-2133)TCA>TTA p.S711L RIMS1_uc011dyb.1_Missense_Mutation_p.S337L|RIMS1_uc003pgc.2_Missense_Mutation_p.S337L|RIMS1_uc010kaq.2_Missense_Mutation_p.S185L|RIMS1_uc011dyc.1_Missense_Mutation_p.S185L|RIMS1_uc010kar.2_Missense_Mutation_p.S104L|RIMS1_uc011dyd.1_Missense_Mutation_p.S170L|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.S337L|RIMS1_uc010kas.1_Missense_Mutation_p.S170L NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 711 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATTTTAGGTTCAAGTTCCTTT 0.318 NaN 0 0 0 0.014323 0 23 93 KCNQ5 56479 broad.mit.edu 37 6 73900420 73900420 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:73900420C>G uc003pgk.2 + 12 2049 c.1702C>G c.(1702-1704)CAA>GAA p.Q568E KCNQ5_uc011dyh.1_Missense_Mutation_p.Q587E|KCNQ5_uc011dyi.1_Missense_Mutation_p.Q578E|KCNQ5_uc010kat.2_Missense_Mutation_p.Q559E|KCNQ5_uc011dyj.1_Missense_Mutation_p.Q458E|KCNQ5_uc011dyk.1_Missense_Mutation_p.Q318E NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 568 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TAAAAGCCTTCAAACACGGTA 0.373 NaN 0 0 0 0.00632 0 23 82 CD109 135228 broad.mit.edu 37 6 74533302 74533302 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:74533302C>T uc003php.2 + 33 4708 c.4283C>T c.(4282-4284)TCA>TTA p.S1428L CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.S1411L|CD109_uc010kba.2_Missense_Mutation_p.S1351L NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1428 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 CATCACTCTTCAGTCATTTTT 0.428 NaN 0 0 0 0.008361 0 31 123 CNR1 1268 broad.mit.edu 37 6 88854856 88854856 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:88854856C>G uc011dzq.1 - 2 3701 c.138G>C c.(136-138)CAG>CAC p.Q46H CNR1_uc010kbz.2_Missense_Mutation_p.Q46H|CNR1_uc011dzr.1_Missense_Mutation_p.Q46H|CNR1_uc011dzs.1_Missense_Mutation_p.Q46H|CNR1_uc003pmq.3_Missense_Mutation_p.Q46H|CNR1_uc011dzt.1_Missense_Mutation_p.Q46H|CNR1_uc010kca.2_Intron NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 46 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AAGGGAATTTCTGTGGGAAGT 0.498 NaN 0 0 0 0.003271 0 37 94 CASP8AP2 9994 broad.mit.edu 37 6 90576217 90576217 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:90576217G>C uc003pnr.2 + 8 3404 c.3208G>C c.(3208-3210)GAG>CAG p.E1070Q CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1070Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1070Q NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1070 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CAGAATTATTGAGTCAGCAAT 0.274 NaN 0 0 0 0.004672 0 2 5 FRK 2444 broad.mit.edu 37 6 116264315 116264315 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:116264315C>T uc003pwi.1 - 7 1621 c.1174G>A c.(1174-1176)GAA>AAA p.E392K NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 392 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AGCTTTATTTCGTGTCTAGAT 0.378 NaN 0 0 0 0.012319 0 18 52 ROS1 6098 broad.mit.edu 37 6 117718277 117718277 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:117718277G>A uc003pxp.1 - 7 779 c.580C>T c.(580-582)CCT>TCT p.P194S ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 194 Fibronectin type-III 2.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCAGTTTCAGGAACTGGAAGA 0.388 NaN T GOPC|ROS1 glioblastoma|NSCLC 0 0 0 0.010504 0 22 86 SMPDL3A 10924 broad.mit.edu 37 6 123127407 123127407 + Missense_Mutation SNP C C G rs143627205 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:123127407C>G uc003pzg.2 + 7 1470 c.949C>G c.(949-951)CCT>GCT p.P317A SMPDL3A_uc003pzh.2_Missense_Mutation_p.P186A NM_006714 NP_006705 Q92484 ASM3A_HUMAN acid sphingomyelinase-like phosphodiesterase 3A 317 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity 0 GBM - Glioblastoma multiforme(226;0.236) GTTTGTGGCTCCTGCTGTTAC 0.313 NaN 0 0 0 0.00499 0 12 42 TRMT11 60487 broad.mit.edu 37 6 126320719 126320719 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:126320719G>A uc003qam.2 + 7 760 c.639G>A c.(637-639)GTG>GTA p.V213V TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.V213V NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 213 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) ATGGAAAAGTGAAAGAAAATG 0.313 NaN 0 0 0 0.00333 0 26 81 TCF21 6943 broad.mit.edu 37 6 134210742 134210742 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:134210742G>A uc003qei.3 + 1 483 c.207G>A c.(205-207)CTG>CTA p.L69L uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.L69L NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 69 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AGAGCCCCCTGAGCGGGGTCA 0.682 NaN 0 0 0 0.000602 0 5 63 SYNE1 23345 broad.mit.edu 37 6 152461256 152461256 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:152461256C>G uc010kiw.2 - 140 25889 c.25287G>C c.(25285-25287)TTG>TTC p.L8429F SYNE1_uc010kiv.2_Missense_Mutation_p.L2953F|SYNE1_uc003qos.3_Missense_Mutation_p.L2953F|SYNE1_uc003qot.3_Missense_Mutation_p.L8381F|SYNE1_uc003qou.3_Missense_Mutation_p.L8429F|SYNE1_uc003qop.3_Missense_Mutation_p.L614F|SYNE1_uc011eez.1_Missense_Mutation_p.L631F|SYNE1_uc003qoq.3_Missense_Mutation_p.L631F|SYNE1_uc003qor.3_Missense_Mutation_p.L1352F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8429 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTCCTTGCTCAATGCCTGGG 0.502 NaN HNSCC(10;0.0054) 0 0 0 0.003755 0 33 125 TULP4 56995 broad.mit.edu 37 6 158834155 158834155 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:158834155G>A uc003qrf.2 + 2 1668 c.311G>A c.(310-312)GGA>GAA p.G104E TULP4_uc011efo.1_Missense_Mutation_p.G104E|TULP4_uc003qrg.2_Missense_Mutation_p.G104E NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 104 WD 1. intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GATGCGGACGGAGGCATATTC 0.562 NaN 0 0 0 0.003163 0 14 33 T 6862 broad.mit.edu 37 6 166571975 166571975 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:166571975G>C uc003quu.1 - 9 1629 c.1136C>G c.(1135-1137)TCC>TGC p.S379C T_uc003qut.1_Missense_Mutation_p.S380C|T_uc003quv.1_Missense_Mutation_p.S321C NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 379 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GTGCGCGGGGGAGCCCCGGAA 0.706 NaN Chordoma_Familial_Clustering_of 0 0 0 0.00499 0 13 55 MLLT4 4301 broad.mit.edu 37 6 168344641 168344641 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr6:168344641G>C uc003qwd.2 + 25 3378 c.3236G>C c.(3235-3237)AGA>ACA p.R1079T MLLT4_uc003qwb.1_Missense_Mutation_p.R1064T|MLLT4_uc003qwc.1_Missense_Mutation_p.R1080T|MLLT4_uc003qwg.1_Missense_Mutation_p.R389T NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1080 PDZ. 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) CTCATGACAAGAACAAGCTCT 0.488 NaN T MLL AL 0 0 0 0.004656 0 27 66 LFNG 3955 broad.mit.edu 37 7 2565989 2565989 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:2565989C>G uc003smf.2 + 6 950 c.933C>G c.(931-933)TTC>TTG p.F311L LFNG_uc003smg.2_Missense_Mutation_p.F311L NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN lunatic fringe isoform a 311 Lumenal (Potential). organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) GCGGCCTCTTCCACTCCCACC 0.657 NaN 0 0 0 0.010818 0 34 96 KIAA0415 9907 broad.mit.edu 37 7 4830468 4830468 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:4830468G>C uc003sne.2 + 16 2186 c.2103G>C c.(2101-2103)CTG>CTC p.L701L KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.L178L NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 701 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) TCACCGTGCTGATGACCACGC 0.647 NaN 0 0 0 0.004672 0 2 12 USP42 84132 broad.mit.edu 37 7 6180583 6180583 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:6180583G>C uc011jwo.1 + 7 886 c.763G>C c.(763-765)GAT>CAT p.D255H USP42_uc011jwn.1_Missense_Mutation_p.D100H|USP42_uc010kth.1_Missense_Mutation_p.D188H|USP42_uc011jwp.1_Missense_Mutation_p.D255H|USP42_uc011jwq.1_Missense_Mutation_p.D62H|USP42_uc011jwr.1_Missense_Mutation_p.D100H NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 255 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) AGATACTTTTGATCCATATCT 0.264 NaN 0 0 0 0.004482 0 9 48 COL28A1 340267 broad.mit.edu 37 7 7413118 7413118 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:7413118C>G uc003src.1 - 32 2536 c.2419G>C c.(2419-2421)GAA>CAA p.E807Q COL28A1_uc011jxe.1_Missense_Mutation_p.E490Q NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 807 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCCACGCTTTCTGAGCTGTCG 0.463 NaN 0 0 0 0.006999 0 41 134 FAM188B 84182 broad.mit.edu 37 7 30876370 30876370 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:30876370C>T uc003tbt.2 + 7 1306 c.1229C>T c.(1228-1230)TCA>TTA p.S410L FAM188B_uc010kwe.2_Missense_Mutation_p.S381L NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 410 0 ATTGACCTCTCAGTAGCAAAG 0.463 NaN 0 0 0 0.007291 0 29 128 POLD2 5425 broad.mit.edu 37 7 44157622 44157622 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:44157622C>T uc010kxz.2 - 4 912 c.262G>A c.(262-264)GAG>AAG p.E88K POLD2_uc003tke.3_Missense_Mutation_p.E88K|POLD2_uc010kya.2_Missense_Mutation_p.E88K|POLD2_uc003tkf.3_Missense_Mutation_p.E88K NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 88 base-excision repair|DNA strand elongation involved in DNA replication|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 DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 CACTTCTCCTCAGGCTGCAGT 0.622 NaN 0 0 0 0.003954 0 25 93 OGDH 4967 broad.mit.edu 37 7 44747299 44747299 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:44747299G>C uc003tln.2 + 22 3024 c.2915G>C c.(2914-2916)AGA>ACA p.R972T OGDH_uc011kbx.1_Missense_Mutation_p.R968T|OGDH_uc011kby.1_Missense_Mutation_p.R822T|OGDH_uc003tlp.2_Missense_Mutation_p.R983T|OGDH_uc011kbz.1_Missense_Mutation_p.R767T NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 972 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GTGAAGCCAAGACTTCGGACC 0.602 NaN 0 0 0 0.012319 0 23 90 ZNF727 442319 broad.mit.edu 37 7 63538522 63538522 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:63538522G>C uc011kdm.1 + 4 1274 c.1095G>C c.(1093-1095)TTG>TTC p.L365F NM_001159522 NP_001152994 A8MUV8 ZN727_HUMAN zinc finger protein 727 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATATGGAATTGAGACCTTACA 0.393 NaN 0 0 0 0.001984 0 7 18 MAGI2 9863 broad.mit.edu 37 7 77885556 77885556 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:77885556G>A uc003ugx.2 - 10 2005 c.1751C>T c.(1750-1752)CCG>CTG p.P584L MAGI2_uc003ugy.2_Missense_Mutation_p.P584L|MAGI2_uc010ldx.1_Missense_Mutation_p.P193L|MAGI2_uc010ldy.1_Missense_Mutation_p.P193L|MAGI2_uc011kgr.1_Missense_Mutation_p.P416L|MAGI2_uc011kgs.1_Missense_Mutation_p.P421L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 584 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATGGACGGGCGGTGGATACGT 0.527 NaN 0 0 0 0.004482 0 7 53 PCLO 27445 broad.mit.edu 37 7 82585375 82585375 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:82585375C>T uc003uhx.2 - 5 5183 c.4894G>A c.(4894-4896)GAA>AAA p.E1632K PCLO_uc003uhv.2_Missense_Mutation_p.E1632K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1563 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCATCGTCTTCATCATGCCAT 0.428 NaN 0 0 0 0.00632 0 25 396 PPP1R9A 55607 broad.mit.edu 37 7 94919406 94919406 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:94919406C>G uc003unp.2 + 16 3370 c.3088C>G c.(3088-3090)CTT>GTT p.L1030V PPP1R9A_uc010lfj.2_Missense_Mutation_p.L1306V|PPP1R9A_uc011kif.1_Missense_Mutation_p.L1228V|PPP1R9A_uc003unq.2_Missense_Mutation_p.L1185V|PPP1R9A_uc011kig.1_Missense_Mutation_p.L1022V|PPP1R9A_uc003unr.2_Missense_Mutation_p.L319V NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 1030 Interacts with TGN38 (By similarity).|SAM. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TTCTTAGGCTCTTGGAATGAC 0.413 NaN HNSCC(28;0.073) 0 0 0 0.008291 0 10 41 TAC1 6863 broad.mit.edu 37 7 97362036 97362036 + Missense_Mutation SNP G G T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:97362036G>T uc003uop.3 + 2 358 c.112G>T c.(112-114)GAC>TAC p.D38Y TAC1_uc003uoq.3_Missense_Mutation_p.D38Y|TAC1_uc003uor.3_Missense_Mutation_p.D38Y|TAC1_uc003uos.3_Missense_Mutation_p.D38Y NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 38 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) GTACGACAGCGACCAGATCAA 0.557 NaN 1 0 1.1804e-14 0.003954 1.22119e-14 24 69 ZNF655 79027 broad.mit.edu 37 7 99170257 99170257 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:99170257G>A uc003urh.2 + 3 919 c.526G>A c.(526-528)GAA>AAA p.E176K ZNF655_uc010lga.2_Missense_Mutation_p.E211K|ZNF655_uc010lgc.2_Missense_Mutation_p.E211K|ZNF655_uc003urj.2_Missense_Mutation_p.E176K|ZNF655_uc003urk.2_Missense_Mutation_p.E13K|ZNF655_uc010lgd.2_Missense_Mutation_p.E13K NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 176 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) TGGTAAACATGAACACTTAAA 0.378 NaN 0 0 0 0.004482 0 9 57 ZNF655 79027 broad.mit.edu 37 7 99170385 99170385 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:99170385G>A uc003urh.2 + 3 1047 c.654G>A c.(652-654)GGG>GGA p.G218G ZNF655_uc010lga.2_Silent_p.G253G|ZNF655_uc010lgc.2_Silent_p.G253G|ZNF655_uc003urj.2_Silent_p.G218G|ZNF655_uc003urk.2_Silent_p.G55G|ZNF655_uc010lgd.2_Silent_p.G55G NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 218 C2H2-type 1. G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) ATGTATGTGGGAAAATTTTCC 0.388 NaN 0 0 0 0.003163 0 16 46 ZNF655 79027 broad.mit.edu 37 7 99170442 99170442 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:99170442G>A uc003urh.2 + 3 1104 c.711G>A c.(709-711)GAG>GAA p.E237E ZNF655_uc010lga.2_Silent_p.E272E|ZNF655_uc010lgc.2_Silent_p.E272E|ZNF655_uc003urj.2_Silent_p.E237E|ZNF655_uc003urk.2_Silent_p.E74E|ZNF655_uc010lgd.2_Silent_p.E74E NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 237 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) ATACTAGAGAGAAGCCCTACA 0.378 NaN 0 0 0 0.004482 0 9 52 ZNF655 79027 broad.mit.edu 37 7 99170930 99170930 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:99170930G>C uc003urh.2 + 3 1592 c.1199G>C c.(1198-1200)AGA>ACA p.R400T ZNF655_uc010lga.2_Missense_Mutation_p.R435T|ZNF655_uc010lgc.2_Missense_Mutation_p.R435T|ZNF655_uc003urj.2_Missense_Mutation_p.R400T|ZNF655_uc003urk.2_Missense_Mutation_p.R237T|ZNF655_uc010lgd.2_Missense_Mutation_p.R237T NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 400 C2H2-type 5. G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CAGCATCAAAGAATTCACACA 0.353 NaN 0 0 0 0.014323 0 23 72 MUC17 140453 broad.mit.edu 37 7 100695124 100695124 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:100695124C>T uc003uxp.1 + 9 13037 c.12984C>T c.(12982-12984)TTC>TTT p.F4328F MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4328 Extracellular (Potential). 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) GAGACTACTTCGTAGTGGAGT 0.587 NaN 0 0 0 0.00623 0 41 116 CUX1 1523 broad.mit.edu 37 7 101845024 101845024 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:101845024G>A uc003uyx.3 + 18 2485 c.2447G>A c.(2446-2448)CGC>CAC p.R816H CUX1_uc003uys.3_Missense_Mutation_p.R827H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 816 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GAGGTGGGCCGCAGCGGTGCC 0.672 NaN 0 0 0 0.008291 0 11 18 PMPCB 9512 broad.mit.edu 37 7 102940661 102940661 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:102940661G>C uc003vbl.2 + 4 398 c.364G>C c.(364-366)GAG>CAG p.E122Q PMPCB_uc010liu.1_Missense_Mutation_p.E122Q|PMPCB_uc003vbk.1_Missense_Mutation_p.E122Q|PMPCB_uc003vbm.2_Missense_Mutation_p.E31Q|PMPCB_uc010liv.2_Missense_Mutation_p.E28Q|PMPCB_uc010liw.2_Missense_Mutation_p.E31Q|PMPCB_uc011kll.1_Missense_Mutation_p.E17Q|PMPCB_uc011klm.1_5'UTR NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 122 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 TCTGGAACTTGAGATTGAAAA 0.388 NaN 0 0 0 0.010818 0 31 157 BCAP29 55973 broad.mit.edu 37 7 107253828 107253828 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:107253828G>C uc003vej.2 + 7 980 c.641G>C c.(640-642)AGA>ACA p.R214T BCAP29_uc011kly.1_Missense_Mutation_p.R120T|BCAP29_uc011klz.1_Missense_Mutation_p.R214T|BCAP29_uc011kma.1_Missense_Mutation_p.R214T NM_018844 NP_061332 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein BAP29 isoform 214 Cytoplasmic (Potential). apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane large_intestine(1)|ovary(1) 2 CAGTCAGAGAGACTTTCGAAA 0.313 NaN 0 0 0 0.013537 0 11 41 IFRD1 3475 broad.mit.edu 37 7 112096062 112096062 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:112096062G>A uc003vgh.2 + 4 648 c.205G>A c.(205-207)GAA>AAA p.E69K IFRD1_uc011kmn.1_Missense_Mutation_p.E19K|IFRD1_uc003vgi.2_Missense_Mutation_p.E69K|IFRD1_uc003vgj.2_Missense_Mutation_p.E69K|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.E19K NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 69 multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 CTTAGGACCAGAAGTCCTTGA 0.368 NaN 0 0 0 0.010729 0 9 53 WASL 8976 broad.mit.edu 37 7 123332847 123332847 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:123332847G>C uc003vkz.2 - 9 1229 c.901C>G c.(901-903)CCT>GCT p.P301A NM_003941 NP_003932 O00401 WASL_HUMAN Wiskott-Aldrich syndrome gene-like protein 301 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity 0 gcaggaggaggaggaggacct 0.428 NaN 0 0 0 0.010818 0 32 89 SND1 27044 broad.mit.edu 37 7 127714730 127714730 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:127714730G>A uc003vmi.2 + 17 2182 c.1956G>A c.(1954-1956)CAG>CAA p.Q652Q SND1_uc010lle.2_Silent_p.Q305Q NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 652 TNase-like 4. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CCGCAAAGCAGAAGAAAGAGA 0.602 NaN 0 0 0 0.009096 0 4 23 CHCHD3 54927 broad.mit.edu 37 7 132754904 132754904 + Nonsense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:132754904G>C uc003vre.2 - 2 303 c.167C>G c.(166-168)TCA>TGA p.S56* CHCHD3_uc010lmi.2_RNA|CHCHD3_uc003vrf.2_Nonsense_Mutation_p.S56*|CHCHD3_uc010lmj.2_Intron|CHCHD3_uc011kpn.1_Nonsense_Mutation_p.S56* NM_017812 NP_060282 Q9NX63 CHCH3_HUMAN coiled-coil-helix-coiled-coil-helix domain 56 inner mitochondrial membrane organization|mitochondrial fusion mitochondrial inner membrane protein complex scaffold 0 AGCAATACCTGAGGCACCATA 0.378 NaN 0 0 0 0.010729 0 11 49 PTN 5764 broad.mit.edu 37 7 136936106 136936106 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:136936106C>T uc003vtq.2 - 4 685 c.322G>A c.(322-324)GAA>AAA p.E108K PTN_uc010lmx.2_Missense_Mutation_p.E108K|PTN_uc003vtr.1_Missense_Mutation_p.E108K NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 108 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity upper_aerodigestive_tract(1)|pancreas(1) 2 AGGTCACATTCTCCCCAGGCC 0.507 NaN 0 0 0 0.01441 0 57 211 PAXIP1 22976 broad.mit.edu 37 7 154738261 154738261 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr7:154738261C>T uc003wlp.2 - 19 3137 c.3094G>A c.(3094-3096)GAC>AAC p.D1032N LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.D998N|PAXIP1_uc011kvs.1_Missense_Mutation_p.D996N NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 1032 Interaction with TP53BP1.|BRCT 6. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) AAATGAAGGTCATTTTCACAG 0.423 NaN 0 0 0 0.001168 0 6 40 RP1L1 94137 broad.mit.edu 37 8 10466192 10466192 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:10466192G>C uc003wtc.2 - 4 5645 c.5416C>G c.(5416-5418)CAA>GAA p.Q1806E NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1806 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCAGAGCCTTGACCCCCAGTT 0.587 NaN 0 0 0 0.01441 0 80 308 BIN3 55909 broad.mit.edu 37 8 22487503 22487503 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:22487503C>T uc003xcl.2 - 6 409 c.312G>A c.(310-312)CAG>CAA p.Q104Q BIN3_uc003xck.2_Silent_p.Q56Q|BIN3_uc010ltw.2_Silent_p.Q50Q NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN bridging integrator 3 104 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity 0 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TCACAGTCTTCTGGATCTGGT 0.537 NaN 0 0 0 0.000602 0 4 19 ZNF395 55893 broad.mit.edu 37 8 28206244 28206244 + Missense_Mutation SNP G G C rs12545851 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:28206244G>C uc003xgq.2 - 10 1622 c.1534C>G c.(1534-1536)CTG>GTG p.L512V ZNF395_uc003xgt.2_Missense_Mutation_p.L512V|ZNF395_uc003xgr.2_Missense_Mutation_p.L512V|ZNF395_uc003xgs.2_Missense_Mutation_p.L512V NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 512 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GCTCAGTCCAGAAAGCGCTGG 0.622 NaN 0 0 0 0.008871 0 14 60 EXTL3 2137 broad.mit.edu 37 8 28574875 28574875 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:28574875C>G uc003xgz.1 + 3 1892 c.1299C>G c.(1297-1299)ATC>ATG p.I433M NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 433 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCGCCCTCATCATTACCCCCG 0.622 NaN 0 0 0 0.010818 0 32 84 IDO2 169355 broad.mit.edu 37 8 39806667 39806667 + Splice_Site SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:39806667G>C uc010lwy.1 + 2 265 c.23_splice c.e2-1 p.D8_splice IDO2_uc003xno.1_Splice_Site NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 TTTCCATGCAGATACTTCAAA 0.428 NaN 0 0 0 0.000602 0 4 16 CHRNB3 1142 broad.mit.edu 37 8 42585842 42585842 + Missense_Mutation SNP G G A rs75170626 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:42585842G>A uc003xpi.1 + 4 483 c.355G>A c.(355-357)GAA>AAA p.E119K NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 119 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) AGTTCTCTTTGAAAAGTAAGT 0.284 NaN 0 0 0 0.003163 0 14 58 POTEA 340441 broad.mit.edu 37 8 43211963 43211963 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:43211963C>G uc003xpz.1 + 12 1465 c.1422C>G c.(1420-1422)CTC>CTG p.L474L POTEA_uc003xqa.1_Silent_p.L428L NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 474 Potential. ovary(1) 1 TACTAGAACTCAAAAATAGCC 0.353 NaN 0 0 0 0.013537 0 13 63 KIAA0146 23514 broad.mit.edu 37 8 48641538 48641538 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:48641538C>T uc003xqd.2 + 18 2488 c.2479C>T c.(2479-2481)CCT>TCT p.P827S KIAA0146_uc011ldc.1_Missense_Mutation_p.P757S|KIAA0146_uc011ldd.1_Missense_Mutation_p.P767S|KIAA0146_uc003xqe.2_Missense_Mutation_p.P302S|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.P332S|KIAA0146_uc011ldg.1_Missense_Mutation_p.P317S|KIAA0146_uc003xqg.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 827 0 Lung NSC(58;0.175) GGTCACATCTCCTGTTCTCAA 0.592 NaN 0 0 0 0.003954 0 24 91 KIAA0146 23514 broad.mit.edu 37 8 48641544 48641544 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:48641544C>T uc003xqd.2 + 18 2494 c.2485C>T c.(2485-2487)CTC>TTC p.L829F KIAA0146_uc011ldc.1_Missense_Mutation_p.L759F|KIAA0146_uc011ldd.1_Missense_Mutation_p.L769F|KIAA0146_uc003xqe.2_Missense_Mutation_p.L304F|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Missense_Mutation_p.L334F|KIAA0146_uc011ldg.1_Missense_Mutation_p.L319F|KIAA0146_uc003xqg.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 829 0 Lung NSC(58;0.175) ATCTCCTGTTCTCAAGAGGCA 0.592 NaN 0 0 0 0.00333 0 24 90 ARFGEF1 10565 broad.mit.edu 37 8 68163633 68163633 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:68163633C>G uc003xxo.1 - 19 3141 c.2751G>C c.(2749-2751)CAG>CAC p.Q917H ARFGEF1_uc003xxl.1_Missense_Mutation_p.Q371H NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 917 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCTTGGCCATCTGCTCCATTT 0.398 NaN 0 0 0 0.004482 0 7 50 SLCO5A1 81796 broad.mit.edu 37 8 70650368 70650368 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:70650368C>G uc003xyl.2 - 5 2037 c.1330G>C c.(1330-1332)GAG>CAG p.E444Q SLCO5A1_uc010lzb.2_Intron|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.E444Q|SLCO5A1_uc010lzc.2_Intron NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 444 Helical; Name=7; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATGGCACTCTCAGCTGTGTAT 0.423 NaN 0 0 0 0.010729 0 11 82 GDAP1 54332 broad.mit.edu 37 8 75262801 75262801 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:75262801C>T uc003yah.2 + 1 184 c.105C>T c.(103-105)TTC>TTT p.F35F GDAP1_uc011lfj.1_5'UTR|GDAP1_uc003yai.2_Intron NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 35 GST N-terminal. cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) CGCATTCGTTCAGCTCTCAAA 0.627 NaN 0 0 0 0.006122 0 14 58 KIAA1429 25962 broad.mit.edu 37 8 95541352 95541352 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:95541352C>T uc003ygo.1 - 7 839 c.826G>A c.(826-828)GAG>AAG p.E276K KIAA1429_uc003ygp.2_Missense_Mutation_p.E276K|KIAA1429_uc010maz.1_5'Flank NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 276 Glu-rich. mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) tcttcctcctcAGGAATACTG 0.194 NaN 0 0 0 0.008291 0 11 21 KCNS2 3788 broad.mit.edu 37 8 99440459 99440459 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:99440459C>T uc003yin.2 + 2 602 c.252C>T c.(250-252)TTC>TTT p.F84F NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 84 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TGCTGCATTTCTATCACACCG 0.557 NaN 0 0 0 0.013726 0 34 138 KCNS2 3788 broad.mit.edu 37 8 99440510 99440510 + Missense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:99440510C>A uc003yin.2 + 2 653 c.303C>A c.(301-303)TTC>TTA p.F101L NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 101 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TCTTCTCCTTCAGCCAGGAGA 0.537 NaN 1 0 1.62957e-23 0.00874 1.69344e-23 38 122 RIMS2 9699 broad.mit.edu 37 8 104987673 104987673 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:104987673C>G uc003yls.2 + 14 2441 c.2200C>G c.(2200-2202)CAT>GAT p.H734D RIMS2_uc003ylp.2_Missense_Mutation_p.H956D|RIMS2_uc003ylw.2_Missense_Mutation_p.H748D|RIMS2_uc003ylq.2_Missense_Mutation_p.H748D|RIMS2_uc003ylr.2_Missense_Mutation_p.H795D|RIMS2_uc003ylt.2_Missense_Mutation_p.H341D NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1018 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGGTCTCCTCATCGAGTAGA 0.413 NaN HNSCC(12;0.0054) 0 0 0 0.004007 0 14 64 UTP23 84294 broad.mit.edu 37 8 117782565 117782565 + Missense_Mutation SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:117782565T>C uc003yoc.2 + 2 424 c.323T>C c.(322-324)GTT>GCT p.V108A NM_032334 NP_115710 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, 108 rRNA processing nucleolus 0 CTTTCCATGGTTGAAGAGGGA 0.373 NaN 0 0 0 0.007291 0 26 154 FER1L6 654463 broad.mit.edu 37 8 125052230 125052230 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:125052230C>T uc003yqw.2 + 20 2778 c.2572C>T c.(2572-2574)CAC>TAC p.H858Y uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 858 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GTTCCTTTCTCACTGCCAGAC 0.522 NaN 0 0 0 0.004656 0 24 127 FAM83H 286077 broad.mit.edu 37 8 144808291 144808291 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr8:144808291C>T uc003yzk.2 - 5 3409 c.3340G>A c.(3340-3342)GAG>AAG p.E1114K FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 1114 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCGCGCTCCTCCGCGCTGGCT 0.652 NaN 0 0 0 0.001168 0 3 14 BNC2 54796 broad.mit.edu 37 9 16435866 16435866 + Nonsense_Mutation SNP C C A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:16435866C>A uc003zml.2 - 6 2466 c.2326G>T c.(2326-2328)GAA>TAA p.E776* BNC2_uc011lmw.1_Nonsense_Mutation_p.E681*|BNC2_uc003zmm.2_Nonsense_Mutation_p.E734*|BNC2_uc003zmq.1_Nonsense_Mutation_p.E790*|BNC2_uc003zmr.1_Nonsense_Mutation_p.E813*|BNC2_uc003zmp.1_Nonsense_Mutation_p.E804*|BNC2_uc010mij.1_Nonsense_Mutation_p.E698*|BNC2_uc011lmv.1_Nonsense_Mutation_p.E602*|BNC2_uc003zmo.1_Nonsense_Mutation_p.E698*|BNC2_uc003zmj.2_Nonsense_Mutation_p.E541*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.E541*|BNC2_uc003zmn.1_Nonsense_Mutation_p.E541* NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GTAAATTCTTCCTTCACCTTG 0.498 NaN 1 0 3.62473e-10 0.012319 3.71685e-10 22 57 TPM2 7169 broad.mit.edu 37 9 35689748 35689748 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:35689748C>T uc003zxq.2 - 1 306 c.67G>A c.(67-69)GAG>AAG p.E23K TPM2_uc003zxr.2_Missense_Mutation_p.E23K|TPM2_uc003zxs.2_Missense_Mutation_p.E23K|TPM2_uc010mkz.2_Missense_Mutation_p.E23K|TPM2_uc011lpa.1_Missense_Mutation_p.E23K NM_213674 NP_998839 P07951 TPM2_HUMAN tropomyosin 2 (beta) isoform 2 23 By similarity. muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle ovary(1) 1 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCGGCCTGCTCGGCGCGGTCG 0.677 NaN 0 0 0 0.01441 0 55 193 CREB3 10488 broad.mit.edu 37 9 35736618 35736618 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:35736618C>G uc003zxv.2 + 9 1464 c.1011C>G c.(1009-1011)CTC>CTG p.L337L CREB3_uc010mla.2_Silent_p.L256L NM_006368 NP_006359 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 361 Lumenal (Potential).|Pro-rich. chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity 0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CAGAGCCTCTCTGCCGAGGTC 0.587 NaN OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 54 267 AGTPBP1 23287 broad.mit.edu 37 9 88190360 88190360 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:88190360C>T uc011ltd.1 - 24 3406 c.3373G>A c.(3373-3375)GAG>AAG p.E1125K AGTPBP1_uc004aod.3_Missense_Mutation_p.E751K|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.E1085K|AGTPBP1_uc011lte.1_Missense_Mutation_p.E1137K NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1125 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GCTCCCATCTCTTCCAGTTCT 0.363 NaN 0 0 0 0.013726 0 30 84 PTPDC1 138639 broad.mit.edu 37 9 96847533 96847533 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:96847533G>C uc004auf.1 + 3 423 c.83G>C c.(82-84)GGA>GCA p.G28A PTPDC1_uc004aug.1_Missense_Mutation_p.G28A|PTPDC1_uc004auh.1_Missense_Mutation_p.R80T|PTPDC1_uc010mrj.1_Missense_Mutation_p.G82A|PTPDC1_uc010mri.1_Missense_Mutation_p.R80T NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 28 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 TATGTTCTAGGAAATTTAGAA 0.408 NaN 0 0 0 0.006122 0 16 64 PTCH1 5727 broad.mit.edu 37 9 98232132 98232132 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:98232132C>G uc004avk.3 - 13 1998 c.1810G>C c.(1810-1812)GAG>CAG p.E604Q PTCH1_uc010mro.2_Missense_Mutation_p.E453Q|PTCH1_uc010mrp.2_Missense_Mutation_p.E453Q|PTCH1_uc010mrq.2_Missense_Mutation_p.E453Q|PTCH1_uc004avl.3_Missense_Mutation_p.E453Q|PTCH1_uc010mrr.2_Missense_Mutation_p.E538Q|PTCH1_uc004avm.3_Missense_Mutation_p.E603Q|PTCH1_uc010mrs.1_Missense_Mutation_p.E272Q NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 604 Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CTCCTGTCCTCGCGTCGATAT 0.438 NaN Basal_Cell_Nevus_syndrome 0 0 0 0.011902 0 46 158 C9orf102 375748 broad.mit.edu 37 9 98691087 98691087 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:98691087C>G uc004avt.3 + 11 2113 c.1725C>G c.(1723-1725)CTC>CTG p.L575L C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.L277L|C9orf102_uc010mry.1_Silent_p.L277L|C9orf102_uc010mrz.2_Silent_p.L386L|C9orf102_uc004avu.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 575 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) AGGAAAGACTCAAGATTGTAA 0.368 NaN 0 0 0 0.014323 0 22 102 COL15A1 1306 broad.mit.edu 37 9 101825366 101825366 + Nonsense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:101825366C>G uc004azb.1 + 39 3832 c.3626C>G c.(3625-3627)TCA>TGA p.S1209* NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1209 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AACCCTATTTCAAGTGCCAAT 0.269 NaN 0 0 0 0.008871 0 15 53 ZNF462 58499 broad.mit.edu 37 9 109687655 109687655 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:109687655C>T uc004bcz.2 + 3 1751 c.1462C>T c.(1462-1464)CAC>TAC p.H488Y ZNF462_uc010mto.2_Missense_Mutation_p.H336Y|ZNF462_uc004bda.2_Missense_Mutation_p.H336Y NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 488 C2H2-type 5. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 ACTTGGGGCTCACAAACAGTG 0.448 NaN 0 0 0 0.008871 0 19 76 CTNNAL1 8727 broad.mit.edu 37 9 111741738 111741738 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:111741738C>T uc004bdo.1 - 7 966 c.924G>A c.(922-924)GAG>GAA p.E308E CTNNAL1_uc010mts.1_Silent_p.E44E|CTNNAL1_uc010mtt.1_Silent_p.E308E|CTNNAL1_uc004bdp.1_Silent_p.E308E NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 308 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) AATAAAGATTCTCCCGAAGAG 0.418 NaN 0 0 0 0.004482 0 9 30 SVEP1 79987 broad.mit.edu 37 9 113231341 113231341 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:113231341G>C uc010mtz.2 - 17 3376 c.3039C>G c.(3037-3039)TTC>TTG p.F1013L SVEP1_uc010mua.1_Missense_Mutation_p.F1013L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1013 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TTTCACAGGTGAAATGTTCCA 0.438 NaN 0 0 0 0.006122 0 17 79 SVEP1 79987 broad.mit.edu 37 9 113312147 113312147 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:113312147G>A uc010mtz.2 - 2 1106 c.769C>T c.(769-771)CGC>TGC p.R257C SVEP1_uc010mua.1_Missense_Mutation_p.R257C|SVEP1_uc004beu.2_Missense_Mutation_p.R257C|SVEP1_uc004bev.2_5'UTR NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 257 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 AATGCCCGGCGAGCTAAAGCC 0.478 NaN 0 0 0 0.001168 0 6 21 BSPRY 54836 broad.mit.edu 37 9 116131969 116131969 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:116131969G>A uc004bhg.3 + 6 804 c.756G>A c.(754-756)CTG>CTA p.L252L BSPRY_uc010muw.2_3'UTR NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 252 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 GAAAGACCCTGACCTTCAGCA 0.567 NaN 0 0 0 0.009535 0 30 93 SCAI 286205 broad.mit.edu 37 9 127764247 127764247 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:127764247C>T uc004bpe.2 - 12 1222 c.1141G>A c.(1141-1143)GAA>AAA p.E381K SCAI_uc004bpd.2_Missense_Mutation_p.E404K|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 381 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 ATTGTACCTTCACTATCAGAA 0.473 NaN 0 0 0 0.01441 0 46 158 GAPVD1 26130 broad.mit.edu 37 9 128111713 128111713 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:128111713G>A uc010mwx.2 + 21 3594 c.3268G>A c.(3268-3270)GAA>AAA p.E1090K GAPVD1_uc004bpp.2_Missense_Mutation_p.E1099K|GAPVD1_uc004bpq.2_Missense_Mutation_p.E1072K|GAPVD1_uc004bpr.2_Missense_Mutation_p.E1051K|GAPVD1_uc004bps.2_Missense_Mutation_p.E1045K|GAPVD1_uc004bpt.2_Missense_Mutation_p.E105K NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1090 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TCCCCGTGACGAAGCACTGCA 0.478 NaN 0 0 0 0.005524 0 38 118 ST6GALNAC6 30815 broad.mit.edu 37 9 130652994 130652994 + Missense_Mutation SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:130652994T>C uc004bso.1 - 5 745 c.626A>G c.(625-627)AAC>AGC p.N209S ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.N175S|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.N209S|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.N175S|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.N175S|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 209 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 TGCTTCCATGTTGGGGAACAC 0.642 NaN 0 0 0 0.007413 0 15 76 NAIF1 203245 broad.mit.edu 37 9 130829327 130829327 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:130829327C>T uc004bta.2 - 1 273 c.54G>A c.(52-54)GAG>GAA p.E18E NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 18 Required for nuclear localization and apoptosis-inducing activity. apoptosis|induction of apoptosis nucleus 0 CCACGATGATCTCCACCTCCC 0.577 NaN 0 0 0 0.01441 0 68 240 LCN2 3934 broad.mit.edu 37 9 130914288 130914288 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:130914288C>G uc004bto.1 + 4 532 c.459C>G c.(457-459)TTC>TTG p.F153L LCN2_uc011map.1_Missense_Mutation_p.F153L NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor 153 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 GGGAGTACTTCAAGATCACCC 0.547 NaN 0 0 0 0.006999 0 36 155 SPTAN1 6709 broad.mit.edu 37 9 131395126 131395126 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:131395126G>A uc004bvl.3 + 55 7298 c.7185G>A c.(7183-7185)ATG>ATA p.M2395I SPTAN1_uc004bvm.3_Missense_Mutation_p.M2400I|SPTAN1_uc004bvn.3_Missense_Mutation_p.M2375I|SPTAN1_uc004bvo.3_Missense_Mutation_p.M162I|SPTAN1_uc004bvp.3_Missense_Mutation_p.M138I NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2395 EF-hand 2. 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 TGGCTTTCATGATCAGCCGCG 0.602 NaN 0 0 0 0.003271 0 32 178 ZER1 10444 broad.mit.edu 37 9 131517773 131517773 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:131517773G>A uc004bwa.1 - 2 505 c.72C>T c.(70-72)ACC>ACT p.T24T NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 24 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 GGTAGCCCAGGGTGCCATCCA 0.622 NaN 0 0 0 0.00632 0 28 105 DOLK 22845 broad.mit.edu 37 9 131709436 131709436 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:131709436G>C uc004bwr.2 - 1 577 c.147C>G c.(145-147)CTC>CTG p.L49L NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 49 Cytoplasmic (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 CCTGCACTGCGAGGGCCACGG 0.602 NaN 0 0 0 0.010504 0 19 68 NUP188 23511 broad.mit.edu 37 9 131745618 131745618 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:131745618G>A uc004bws.1 + 18 1865 c.1843G>A c.(1843-1845)GTC>ATC p.V615I NUP188_uc004bwu.2_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 615 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TGCTTCTTGTGTCAACTGCTT 0.433 NaN 0 0 0 0.007291 0 26 129 ASS1 445 broad.mit.edu 37 9 133327632 133327632 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:133327632C>T uc004bzm.2 + 3 373 c.17C>T c.(16-18)TCC>TTC p.S6F ASS1_uc004bzn.2_Missense_Mutation_p.S6F|ASS1_uc010mza.2_Missense_Mutation_p.S82F|ASS1_uc004bzo.2_Missense_Mutation_p.S6F|ASS1_uc010mzb.2_Missense_Mutation_p.S44F|ASS1_uc004bzp.2_Missense_Mutation_p.S6F|ASS1_uc010mzc.2_Missense_Mutation_p.S6F NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 6 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) AGCAAAGGCTCCGTGGTTCTG 0.627 NaN 0 0 0 0.001855 0 5 23 LAMC3 10319 broad.mit.edu 37 9 133907468 133907468 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:133907468G>A uc004caa.1 + 3 813 c.715G>A c.(715-717)GAC>AAC p.D239N NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 239 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CATCTCTCTAGACCGGCTCAA 0.567 NaN 0 0 0 0.004878 0 36 207 C9orf96 169436 broad.mit.edu 37 9 136266896 136266896 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:136266896C>T uc004cdk.2 + 13 1289 c.1228C>T c.(1228-1230)CCC>TCC p.P410S C9orf96_uc004cdl.2_Intron NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 410 ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) AGCCAAGGCTCCCTGCAACCA 0.622 NaN 0 0 0 0.001855 0 14 37 MRPS2 51116 broad.mit.edu 37 9 138395832 138395832 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:138395832C>G uc004cfv.3 + 4 818 c.744C>G c.(742-744)CTC>CTG p.L248L MRPS2_uc004cfw.3_Silent_p.L158L|MRPS2_uc004cfx.3_Silent_p.L163L|MRPS2_uc010nat.2_Silent_p.L229L|uc004cfy.2_Intron NM_016034 NP_057118 Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 248 translation mitochondrion|small ribosomal subunit structural constituent of ribosome 0 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) CTGTGCACCTCTACTGCAGGC 0.632 NaN 0 0 0 0.012213 0 30 113 KCNT1 57582 broad.mit.edu 37 9 138669288 138669288 + Silent SNP C C T rs149452823 TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:138669288C>T uc011mdq.1 + 21 2528 c.2454C>T c.(2452-2454)ATC>ATT p.I818I KCNT1_uc011mdr.1_Silent_p.I645I|KCNT1_uc010nbf.2_Silent_p.I773I|KCNT1_uc004cgo.1_Silent_p.I567I NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 818 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACAACTTCATCGTGCCACTGC 0.602 NaN 0 0 0 0.007413 0 17 87 TRAF2 7186 broad.mit.edu 37 9 139802612 139802612 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:139802612G>C uc010nbu.2 + 6 630 c.457G>C c.(457-459)GAG>CAG p.E153Q TRAF2_uc010nbv.1_Missense_Mutation_p.E205Q|TRAF2_uc004cjv.2_Missense_Mutation_p.E153Q|TRAF2_uc011mek.1_Missense_Mutation_p.E142Q|TRAF2_uc010nbw.2_Missense_Mutation_p.E153Q NM_021138 NP_066961 Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 153 TRAF-type 1. activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) GCGCCACCTGGAGCACGAGTG 0.662 NaN 0 0 0 0.013537 0 13 35 NPDC1 56654 broad.mit.edu 37 9 139937474 139937474 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr9:139937474C>G uc004ckt.2 - 2 399 c.164G>C c.(163-165)AGG>ACG p.R55T NPDC1_uc004ckr.2_Missense_Mutation_p.R55T|NPDC1_uc004cks.2_Missense_Mutation_p.R133T|NPDC1_uc004cku.2_Missense_Mutation_p.R55T NM_015392 NP_056207 Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and 55 integral to membrane 0 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGGAGGACACCTTGCCCGCCT 0.687 NaN 0 0 0 0.00245 0 14 30 ARSE 415 broad.mit.edu 37 X 2876407 2876407 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:2876407G>A uc004crc.3 - 3 343 c.93C>T c.(91-93)AGC>AGT p.S31S ARSE_uc011mhi.1_Intron|ARSE_uc011mhh.1_Silent_p.S56S NM_000047 NP_000038 P51690 ARSE_HUMAN arylsulfatase E precursor 31 skeletal system development Golgi stack arylsulfatase activity|metal ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGAAATGTCGCTGGAAGCTG 0.552 NaN 0 0 0 0.012319 0 20 58 PHKA2 5256 broad.mit.edu 37 X 18926150 18926150 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:18926150G>C uc004cyv.3 - 22 2815 c.2385C>G c.(2383-2385)CTC>CTG p.L795L PHKA2_uc004cyu.3_Silent_p.L93L|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 795 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GCTGTCCAGAGAGATTTGTGT 0.517 NaN 0 0 0 0.01441 0 67 321 DMD 1756 broad.mit.edu 37 X 32429880 32429880 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:32429880G>A uc004dda.1 - 30 4466 c.4222C>T c.(4222-4224)CAG>TAG p.Q1408* DMD_uc004dcw.2_Nonsense_Mutation_p.Q64*|DMD_uc004dcx.2_Nonsense_Mutation_p.Q67*|DMD_uc004dcz.2_Nonsense_Mutation_p.Q1285*|DMD_uc004dcy.1_Nonsense_Mutation_p.Q1404*|DMD_uc004ddb.1_Nonsense_Mutation_p.Q1400*|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1408 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGGGCTTCCTGAGGCATTTGA 0.398 NaN 0 0 0 0.010818 0 29 98 BCOR 54880 broad.mit.edu 37 X 39933287 39933287 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:39933287C>T uc004den.3 - 4 1604 c.1312G>A c.(1312-1314)GAT>AAT p.D438N BCOR_uc004dep.3_Missense_Mutation_p.D438N|BCOR_uc004deo.3_Missense_Mutation_p.D438N|BCOR_uc004dem.3_Missense_Mutation_p.D438N|BCOR_uc004deq.3_Missense_Mutation_p.D438N NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 438 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 AGTGGCTTATCTGTGACGTCT 0.532 NaN 0 0 0 0.008871 0 18 67 MED14 9282 broad.mit.edu 37 X 40568682 40568682 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:40568682C>G uc004dex.3 - 10 1343 c.1203G>C c.(1201-1203)CTG>CTC p.L401L MED14_uc010nhe.1_Silent_p.L285L NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 401 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 CACTGTCAATCAGGAGTTTTT 0.353 NaN 0 0 0 0.00245 0 13 73 USP9X 8239 broad.mit.edu 37 X 41077663 41077663 + Missense_Mutation SNP A A T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:41077663A>T uc004dfb.2 + 37 6881 c.6248A>T c.(6247-6249)AAT>ATT p.N2083I USP9X_uc004dfc.2_Missense_Mutation_p.N2083I NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 2083 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CACAGCAAGAATGTACGTTTT 0.373 NaN 0 0 0 0.01441 0 59 196 TBC1D25 4943 broad.mit.edu 37 X 48418785 48418785 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:48418785G>A uc004dka.1 + 6 1600 c.1489G>A c.(1489-1491)GGT>AGT p.G497S TBC1D25_uc011mly.1_Missense_Mutation_p.G439S|TBC1D25_uc004dkb.1_Missense_Mutation_p.G243S|TBC1D25_uc011mlz.1_Missense_Mutation_p.G243S|TBC1D25_uc011mma.1_Missense_Mutation_p.G243S|TBC1D25_uc004dkc.1_Missense_Mutation_p.G243S|TBC1D25_uc011mmb.1_Missense_Mutation_p.G501S|TBC1D25_uc011mmc.1_Missense_Mutation_p.G243S|TBC1D25_uc011mmd.1_Missense_Mutation_p.G243S NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 497 Poly-Gly. intracellular Rab GTPase activator activity ovary(1) 1 GGGGCCTGGTGGTGGGGGGCG 0.642 NaN 0 0 0 0.008871 0 16 61 HUWE1 10075 broad.mit.edu 37 X 53587226 53587226 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:53587226C>T uc004dsp.2 - 56 8061 c.7659G>A c.(7657-7659)CTG>CTA p.L2553L HUWE1_uc004dsn.2_Silent_p.L1377L|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2553 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TATTGGCCGTCAGCTGCCTTA 0.562 NaN 0 0 0 0.013537 0 8 27 ITIH5L 347365 broad.mit.edu 37 X 54781511 54781511 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:54781511C>T uc004dtj.2 - 9 3171 c.3141G>A c.(3139-3141)GAG>GAA p.E1047E NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1047 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CTCCCAGGATCTCCTCAGAAT 0.488 NaN 0 0 0 0.005524 0 38 119 TRO 7216 broad.mit.edu 37 X 54956580 54956580 + Silent SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:54956580T>C uc004dtq.2 + 12 3530 c.3423T>C c.(3421-3423)GGT>GGC p.G1141G TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G672G|TRO_uc004dtw.2_Silent_p.G744G|TRO_uc004dtx.2_Silent_p.G524G NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1141 34.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GCTTTGGTGGTGCTCATGGCA 0.567 NaN 0 0 0 0.008871 0 17 68 DLG3 1741 broad.mit.edu 37 X 69719849 69719849 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:69719849G>A uc004dyi.1 + 16 2423 c.2095G>A c.(2095-2097)GAT>AAT p.D699N DLG3_uc004dyj.1_Missense_Mutation_p.D394N|DLG3_uc011mpn.1_Missense_Mutation_p.D247N NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 699 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) CCAATTTAATGATAACCTCTA 0.493 NaN 0 0 0 0.004482 0 9 38 HDX 139324 broad.mit.edu 37 X 83723964 83723964 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:83723964C>T uc004eek.1 - 3 876 c.767G>A c.(766-768)AGA>AAA p.R256K HDX_uc011mqv.1_Missense_Mutation_p.R256K|HDX_uc004eel.1_Missense_Mutation_p.R198K NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 256 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GTTTTGTGTTCTACAGTAAGG 0.453 NaN 0 0 0 0.01441 0 47 163 DRP2 1821 broad.mit.edu 37 X 100497935 100497935 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:100497935C>T uc004egz.2 + 9 1387 c.1018C>T c.(1018-1020)CGG>TGG p.R340W DRP2_uc011mrh.1_Missense_Mutation_p.R262W NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 340 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GGATGCCCACCGGGACTTTGG 0.512 NaN 0 0 0 0.00874 0 43 181 TAF7L 54457 broad.mit.edu 37 X 100537423 100537423 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:100537423C>T uc004ehb.2 - 5 568 c.556G>A c.(556-558)GAT>AAT p.D186N TAF7L_uc004eha.2_Missense_Mutation_p.D100N|TAF7L_uc004ehc.1_Missense_Mutation_p.D100N NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 186 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 ATATCACCATCAGCAGTGCAC 0.393 NaN 0 0 0 0.006122 0 18 87 GLRA4 441509 broad.mit.edu 37 X 102974114 102974114 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:102974114G>C uc011mse.1 - 7 1225 c.804C>G c.(802-804)CTC>CTG p.L268L GLRA4_uc010nou.2_Silent_p.L268L NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 268 Helical; (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GGATGACGATGAGTAGGCTGG 0.557 NaN 0 0 0 0.01441 0 60 248 RGAG1 57529 broad.mit.edu 37 X 109695177 109695177 + Silent SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:109695177C>G uc004eor.1 + 3 1578 c.1332C>G c.(1330-1332)GTC>GTG p.V444V RGAG1_uc011msr.1_Silent_p.V444V NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 444 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGATGACAGTCCCAAGCTCTG 0.512 NaN 0 0 0 0.01441 0 60 239 LAMP2 3920 broad.mit.edu 37 X 119581866 119581866 + Missense_Mutation SNP T T C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:119581866T>C uc004est.3 - 5 751 c.571A>G c.(571-573)AAA>GAA p.K191E LAMP2_uc004ess.3_Missense_Mutation_p.K191E|LAMP2_uc011mtz.1_Missense_Mutation_p.K80E|LAMP2_uc011mua.1_Missense_Mutation_p.K144E|LAMP2_uc010nqp.1_Missense_Mutation_p.K191E NM_002294 NP_002285 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 isoform 191 Lumenal (Potential).|First lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane ovary(1) 1 GTTTTGTCTTTATCACACAGG 0.408 NaN 0 0 0 0.011902 0 46 132 BCORL1 63035 broad.mit.edu 37 X 129185834 129185834 + Splice_Site SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:129185834G>A uc004evb.1 + 12 4811 c.4697_splice c.e12-1 p.E1566_splice BCORL1_uc004evc.1_Splice_Site_p.E402_splice NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TCCCCTTACAGAGGAAAAAGA 0.473 NaN 0 0 0 0.01441 0 78 292 ZIC3 7547 broad.mit.edu 37 X 136649816 136649816 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:136649816C>G uc004fak.2 + 1 1471 c.966C>G c.(964-966)CAC>CAG p.H322Q NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 322 Nuclear localization signal.|C2H2-type 2; atypical. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TCCGAGTGCACACGGGCGAGA 0.597 NaN 0 0 0 0.01441 0 55 186 MAGEA10 4109 broad.mit.edu 37 X 151303655 151303655 + Silent SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:151303655G>C uc004ffk.2 - 5 846 c.438C>G c.(436-438)CTC>CTG p.L146L MAGEA10_uc004ffl.2_Silent_p.L146L NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 146 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GATACTTGAAGAGCAGAAACT 0.443 NaN 0 0 0 0.01441 0 67 183 PLXNB3 5365 broad.mit.edu 37 X 153040417 153040417 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:153040417G>A uc004fii.2 + 24 4188 c.4014G>A c.(4012-4014)GAG>GAA p.E1338E PLXNB3_uc010nuk.2_Silent_p.E1361E|PLXNB3_uc011mzd.1_Silent_p.E977E|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1338 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCTACGCCGAGCGCGCCTTCT 0.706 NaN 0 0 0 0.004656 0 24 86 FLNA 2316 broad.mit.edu 37 X 153577785 153577785 + Silent SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:153577785C>T uc004fkk.2 - 47 7950 c.7701G>A c.(7699-7701)CTG>CTA p.L2567L FLNA_uc004fki.2_Silent_p.L607L|FLNA_uc011mzn.1_Silent_p.L700L|FLNA_uc010nuu.1_Silent_p.L2559L NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2567 Self-association site, tail.|Filamin 24. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGCCTTGCTCAGCCCCAGGC 0.657 NaN 0 0 0 0.01441 0 51 119 RPL10 6134 broad.mit.edu 37 X 153629109 153629109 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:153629109G>A uc004fkm.2 + 7 747 c.559G>A c.(559-561)GAA>AAA p.E187K uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.L132L|RPL10_uc004fkn.1_Missense_Mutation_p.E187K|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 187 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGGTGGCTGAAAAGCGGCT 0.527 NaN 0 0 0 0.008291 0 10 37 F8 2157 broad.mit.edu 37 X 154157864 154157864 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chrX:154157864G>C uc004fmt.2 - 14 4372 c.4201C>G c.(4201-4203)CAA>GAA p.Q1401E NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1401 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTATTTGCTTGAGGGATGCTA 0.443 NaN 0 0 0 0.01441 0 50 229 MYOF 26509 broad.mit.edu 37 10 95132825 95132827 + In_Frame_Del DEL AGG AGG - TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr10:95132825_95132827delAGG uc001kin.2 - 24 2440_2442 c.2317_2319delCCT c.(2317-2319)CCTdel p.P773del MYOF_uc001kio.2_In_Frame_Del_p.P760del|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 773 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 TGATGATGTCAGGCATGCTGTTC 0.537 NaN NaN NaN NaN NaN NaN 20 118 --- --- KLF5 688 broad.mit.edu 37 13 73636362 73636362 + Frame_Shift_Del DEL A A - TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 A - A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr13:73636362delA uc001vje.2 + 2 949 c.625delA c.(625-627)AAAfs p.K209fs KLF5_uc001vjd.2_Frame_Shift_Del_p.K118fs NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 209 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TATTTTCATCAAACAAGAACT 0.532 NaN NaN NaN NaN NaN NaN 22 81 --- --- CD3EAP 10849 broad.mit.edu 37 19 45910365 45910365 + Frame_Shift_Del DEL C C - rs117289933 byFrequency TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr19:45910365delC uc002pbq.1 + 2 524 c.36delC c.(34-36)TTCfs p.F12fs PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Frame_Shift_Del_p.F14fs NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 12 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) CTGCTCGGTTCTCTTGTCCCC 0.592 NaN NaN NaN NaN NaN NaN 52 163 --- --- FBXW7 55294 broad.mit.edu 37 4 153249367 153249367 + Frame_Shift_Del DEL C C - TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d61ccd8c-b798-46e0-aeed-f95b4f3ba4ff b3b45e06-5837-4fe4-ba7b-ffb7f2fd535e g.chr4:153249367delC uc003ims.2 - 9 1560 c.1411delG c.(1411-1413)GAAfs p.E471fs FBXW7_uc011cii.1_Frame_Shift_Del_p.E471fs|FBXW7_uc003imt.2_Frame_Shift_Del_p.E471fs|FBXW7_uc011cih.1_Frame_Shift_Del_p.E295fs|FBXW7_uc003imq.2_Frame_Shift_Del_p.E391fs|FBXW7_uc003imr.2_Frame_Shift_Del_p.E353fs NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 471 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACCTTTTTTCATGAAGATGC 0.413 NaN Mis|N|D|F colorectal|endometrial|T-ALL NaN NaN NaN NaN NaN 51 179 --- ---