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 MRPL20 55052 broad.mit.edu 37 1 1337499 1337499 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:1337499A>G uc001afo.3 - 4 510 c.414T>C c.(412-414)CCT>CCC p.P138P CCNL2_uc001afh.2_5'Flank|CCNL2_uc001afj.2_5'Flank|CCNL2_uc001afk.2_5'Flank|CCNL2_uc001afi.2_5'Flank|LOC148413_uc001afn.1_RNA NM_017971 NP_060441 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 precursor 138 protein binding|rRNA binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AAATGCCTTCAGGTTCCTTCC 0.463 NaN 0 0 0 0.007835 0 32 215 KIAA0562 9731 broad.mit.edu 37 1 3740058 3740058 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:3740058C>A uc001aky.2 - 19 2792 c.2433G>T c.(2431-2433)AAG>AAT p.K811N KIAA0562_uc010nzm.1_RNA NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 811 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) AACGGTAACACTTTCCAAACC 0.507 NaN 1 0 0.000978159 0.010729 0.000997898 10 114 CASZ1 54897 broad.mit.edu 37 1 10705093 10705093 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:10705093T>C uc001aro.2 - 18 4069 c.3749A>G c.(3748-3750)TAT>TGT p.Y1250C NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1250 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) GGTCACAAAATAGCAGCCGGT 0.592 NaN 0 0 0 0.004289 0 27 205 VPS13D 55187 broad.mit.edu 37 1 12405437 12405437 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:12405437C>T uc001atv.2 + 43 9033 c.8892C>T c.(8890-8892)ACC>ACT p.T2964T VPS13D_uc001atw.2_Silent_p.T2939T|VPS13D_uc001atx.2_Silent_p.T2151T NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2963 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) ACAGACACACCCATGACCTCC 0.438 NaN 0 0 0 0.00333 0 23 166 PADI2 11240 broad.mit.edu 37 1 17395638 17395638 + Silent SNP G G A rs61731909 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:17395638G>A uc001baf.2 - 16 1981 c.1899C>T c.(1897-1899)GAC>GAT p.D633D PADI2_uc010ocm.1_Silent_p.D517D NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 633 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) CAGAAATGTCGTCGATGAAGG 0.597 NaN 0 0 0 0.003954 0 19 173 PADI1 29943 broad.mit.edu 37 1 17552329 17552329 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:17552329G>C uc001bah.1 + 5 524 c.432G>C c.(430-432)GAG>GAC p.E144D NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 144 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGGGCCCTGAGGGCTATGGGG 0.602 NaN 0 0 0 0.010504 0 18 150 ZBTB40 9923 broad.mit.edu 37 1 22816495 22816495 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:22816495C>T uc001bft.2 + 3 565 c.54C>T c.(52-54)TGC>TGT p.C18C ZBTB40_uc001bfu.2_Silent_p.C18C|ZBTB40_uc009vqi.1_Silent_p.C18C NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 18 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ACACTCTGTGCAAGGAGCAGC 0.547 NaN 0 0 0 0.004007 0 13 126 EPHB2 2048 broad.mit.edu 37 1 23233202 23233202 + Splice_Site SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:23233202G>C uc009vqj.1 + 11 2034 c.1889_splice c.e11-1 p.G630_splice EPHB2_uc001bge.2_Splice_Site_p.G631_splice|EPHB2_uc001bgf.2_Splice_Site_p.G630_splice|EPHB2_uc010odu.1_Splice_Site_p.G572_splice NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) TTCTCTCTCAGGGGAGTTTGG 0.567 NaN Hereditary_Prostate_Cancer 0 0 0 0.00308 0 7 48 PAQR7 164091 broad.mit.edu 37 1 26189908 26189908 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:26189908C>T uc001bkx.2 - 2 1090 c.423G>A c.(421-423)CTG>CTA p.L141L NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 141 Helical; Name=3; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) CCACATAGTCCAGGAAGAAGA 0.547 NaN 0 0 0 0.010771 0 36 181 MACF1 23499 broad.mit.edu 37 1 39801743 39801743 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:39801743A>G uc010oiu.1 + 1 4934 c.4803A>G c.(4801-4803)CAA>CAG p.Q1601Q 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 3166 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) CCAAACATCAAATTTCCTCAT 0.373 NaN 0 0 0 0.010504 0 20 102 PLK3 1263 broad.mit.edu 37 1 45266717 45266717 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:45266717G>C uc001cmn.2 + 3 428 c.328G>C c.(328-330)GAG>CAG p.E110Q PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 110 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) GATCCTAAATGAGATTGAGCT 0.587 NaN 0 0 0 0.001168 0 5 113 STIL 6491 broad.mit.edu 37 1 47746122 47746122 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:47746122C>G uc001crc.1 - 12 2163 c.2008G>C c.(2008-2010)GAT>CAT p.D670H TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.D623H|STIL_uc010omo.1_Missense_Mutation_p.D670H|STIL_uc001crd.1_Missense_Mutation_p.D670H|STIL_uc001cre.1_Missense_Mutation_p.D670H|STIL_uc001crf.1_Missense_Mutation_p.D283H|STIL_uc001crg.1_Missense_Mutation_p.D623H NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 670 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CTGCCCATATCTCCCTGAGGT 0.473 NaN 0 0 0 0.01441 0 50 135 TMEM61 199964 broad.mit.edu 37 1 55457707 55457707 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:55457707T>C uc001cyd.2 + 3 838 c.564T>C c.(562-564)TCT>TCC p.S188S NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN transmembrane protein 61 188 integral to membrane 0 ATGCCGTTTCTGCGGAGACGA 0.612 NaN 0 0 0 0.01441 0 93 209 LHX8 431707 broad.mit.edu 37 1 75622729 75622729 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:75622729C>T uc001dgo.2 + 9 1626 c.962C>T c.(961-963)ACG>ATG p.T321M LHX8_uc001dgq.2_Missense_Mutation_p.T260M NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 321 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CAAGATGGAACGATGTTAACT 0.478 NaN 0 0 0 0.00278 0 18 84 NEXN 91624 broad.mit.edu 37 1 78383288 78383288 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:78383288A>G uc001dic.3 + 3 362 c.65A>G c.(64-66)TAT>TGT p.Y22C NEXN_uc001dia.3_Missense_Mutation_p.Y22C|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 22 regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) CCAAAAACCTATGTACCAAAA 0.348 NaN 0 0 0 0.013537 0 10 51 COL24A1 255631 broad.mit.edu 37 1 86304318 86304318 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:86304318G>C uc001dlj.2 - 43 3673 c.3631C>G c.(3631-3633)CCA>GCA p.P1211A COL24A1_uc001dli.2_Missense_Mutation_p.P347A|COL24A1_uc010osd.1_Missense_Mutation_p.P511A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1211 Collagen-like 13. 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) TCCCCCACTGGACCCTACAGA 0.408 NaN 0 0 0 0.003271 0 25 133 GBP1 2633 broad.mit.edu 37 1 89525999 89525999 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:89525999G>T uc001dmx.2 - 3 419 c.199C>A c.(199-201)CTG>ATG p.L67M NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 67 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GTGGAGCCCAGAGAGAAGCCT 0.517 NaN 1 0 1.99824e-07 0.00499 2.12429e-07 14 112 LRIG2 9860 broad.mit.edu 37 1 113655277 113655277 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:113655277G>A uc001edf.1 + 14 2173 c.1975G>A c.(1975-1977)GTC>ATC p.V659I LRIG2_uc009wgn.1_Missense_Mutation_p.V556I NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 659 Ig-like C2-type 2.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CGAGGATGACGTCTTCTTTAT 0.483 NaN 0 0 0 0.006214 0 10 56 FMO5 2330 broad.mit.edu 37 1 146658516 146658516 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:146658516G>A uc001epi.2 - 9 1954 c.1565C>T c.(1564-1566)GCT>GTT p.A522V FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 522 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) GAAGGCAAGAGCTAGCATAAA 0.403 NaN 0 0 0 0.008291 0 9 76 TCHHL1 126637 broad.mit.edu 37 1 152059640 152059640 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152059640G>C uc001ezo.1 - 3 583 c.518C>G c.(517-519)TCT>TGT p.S173C NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 173 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATTGTGTTCAGATGCTTCTCC 0.438 NaN 0 0 0 0.008291 0 9 127 TCHHL1 126637 broad.mit.edu 37 1 152060608 152060608 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152060608G>C uc001ezo.1 - 2 77 c.12C>G c.(10-12)CTC>CTG p.L4L NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 4 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CATTTCTCAGGAGCTGAGGCA 0.458 NaN 0 0 0 0.004482 0 7 105 HRNR 388697 broad.mit.edu 37 1 152185716 152185716 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152185716C>G uc001ezt.1 - 3 8465 c.8389G>C c.(8389-8391)GGT>CGT p.G2797R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2797 30. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTATAACCAGAGGACTGT 0.537 NaN 0 0 0 0.00333 0 21 166 TPM3 7170 broad.mit.edu 37 1 154141837 154141837 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:154141837C>T uc001fec.1 - 9 913 c.798G>A c.(796-798)CTG>CTA p.L266L TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.L229L NM_152263 NP_689476 P06753 TPM3_HUMAN tropomyosin 3 isoform 1 265 By similarity. cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/ALK(33) haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1) 34 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CCTTGTACTTCAGTTTCTGGG 0.517 NaN T NTRK1|ALK papillary thyroid|ALCL 0 0 0 0.008291 0 8 131 SMG5 23381 broad.mit.edu 37 1 156230278 156230278 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:156230278A>G uc001foc.3 - 15 2396 c.2247T>C c.(2245-2247)TTT>TTC p.F749F SMG5_uc009wrv.2_Silent_p.F234F NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 749 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) GATCCGTGTCAAAGTTAAAGC 0.547 NaN 0 0 0 0.010818 0 24 179 POGK 57645 broad.mit.edu 37 1 166818806 166818806 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:166818806C>G uc001gdt.1 + 5 1110 c.990C>G c.(988-990)CAC>CAG p.H330Q POGK_uc010ple.1_Missense_Mutation_p.H245Q|POGK_uc010plf.1_Missense_Mutation_p.H212Q NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 330 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 TGCCCCAGCACCTGCCGGAAG 0.547 NaN 0 0 0 0.007835 0 35 118 FMO4 2329 broad.mit.edu 37 1 171310693 171310693 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:171310693A>G uc001gho.2 + 10 1609 c.1392A>G c.(1390-1392)GGA>GGG p.G464G NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 464 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTTTCTTTGGACCATGTACTC 0.498 NaN 0 0 0 0.00499 0 14 113 DNM3 26052 broad.mit.edu 37 1 172017833 172017833 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:172017833G>C uc001gie.2 + 10 1454 c.1278G>C c.(1276-1278)AAG>AAC p.K426N DNM3_uc001gid.3_Missense_Mutation_p.K426N|DNM3_uc009wwb.2_Missense_Mutation_p.K426N|DNM3_uc001gif.2_Missense_Mutation_p.K426N NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 426 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CTTCCTTGAAGAGTGTGGATC 0.383 NaN 0 0 0 0.00308 0 7 150 SOAT1 6646 broad.mit.edu 37 1 179320559 179320559 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:179320559C>G uc001gml.2 + 15 1621 c.1558C>G c.(1558-1560)CAA>GAA p.Q520E SOAT1_uc010pni.1_Missense_Mutation_p.Q455E|SOAT1_uc001gmm.2_Missense_Mutation_p.Q462E|SOAT1_uc010pnj.1_Missense_Mutation_p.Q256E|SOAT1_uc010pnk.1_Missense_Mutation_p.Q455E NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 520 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) CTTTTATTCTCAAGAATGGTA 0.418 NaN 0 0 0 0.013537 0 10 249 CACNA1E 777 broad.mit.edu 37 1 181759626 181759626 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:181759626G>T uc001gow.2 + 44 5997 c.5832G>T c.(5830-5832)CAG>CAT p.Q1944H CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1832H|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1170H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1944 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCTCTCCCCAGGATATATTCC 0.493 NaN 1 0 2.18419e-29 0.01441 2.50962e-29 52 106 CFH 3075 broad.mit.edu 37 1 196659330 196659330 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:196659330G>A uc001gtj.3 + 9 1537 c.1297G>A c.(1297-1299)GAG>AAG p.E433K CFH_uc001gti.3_Missense_Mutation_p.E433K|CFH_uc009wyw.2_Missense_Mutation_p.E408K|CFH_uc009wyx.2_Missense_Mutation_p.E369K NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 433 Sushi 7. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TACATGTATGGAGAATGGCTG 0.433 NaN 0 0 0 0.001984 0 5 112 DDX59 83479 broad.mit.edu 37 1 200617674 200617674 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:200617674C>T uc009wzk.2 - 7 1732 c.1489G>A c.(1489-1491)GAA>AAA p.E497K DDX59_uc010ppl.1_Missense_Mutation_p.E497K NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 497 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 ACTACAACTTCATAGTCTCCT 0.363 NaN 0 0 0 0.010729 0 10 235 KIF21B 23046 broad.mit.edu 37 1 200967639 200967639 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:200967639G>C uc001gvs.1 - 14 2267 c.1950C>G c.(1948-1950)ATC>ATG p.I650M KIF21B_uc001gvr.1_Missense_Mutation_p.I650M|KIF21B_uc009wzl.1_Missense_Mutation_p.I650M|KIF21B_uc010ppn.1_Missense_Mutation_p.I650M NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 650 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CCAGCTCGTCGATCAGCTTCT 0.562 NaN 0 0 0 0.004656 0 23 235 KDM5B 10765 broad.mit.edu 37 1 202743773 202743773 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:202743773T>C uc001gyf.2 - 3 489 c.373A>G c.(373-375)AGG>GGG p.R125G KDM5B_uc009xag.2_Missense_Mutation_p.R125G|KDM5B_uc001gyg.1_5'UTR NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 125 ARID. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 AAGATCTTCCTCTCCACATGT 0.358 NaN 0 0 0 0.012319 0 17 68 C4BPA 722 broad.mit.edu 37 1 207300065 207300065 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:207300065C>T uc001hfo.2 + 7 908 c.714C>T c.(712-714)ACC>ACT p.T238T NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 238 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TAGAAATCACCTGTCGCAAGC 0.373 NaN 0 0 0 0.004656 0 21 100 WDR26 80232 broad.mit.edu 37 1 224588738 224588738 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:224588738G>A uc001hop.3 - 9 1258 c.892C>T c.(892-894)CAT>TAT p.H298Y WDR26_uc001hoq.3_Missense_Mutation_p.H282Y|WDR26_uc010pvh.1_Missense_Mutation_p.H5Y NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 445 WD 3. cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) CTGTCTTCATGAGACTGGCTC 0.418 NaN 0 0 0 0.008291 0 9 55 TMEM63A 9725 broad.mit.edu 37 1 226053628 226053628 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:226053628C>T uc001hpm.1 - 10 965 c.715G>A c.(715-717)GCC>ACC p.A239T NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 239 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) TCCTTCCTGGCATCTCTGGGG 0.627 NaN 0 0 0 0.010504 0 14 36 OR13G1 441933 broad.mit.edu 37 1 247835472 247835472 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:247835472T>A uc001idi.1 - 1 872 c.872A>T c.(871-873)AAT>ATT p.N291I NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 291 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATCTCCCTATTCTGGAAGCT 0.448 NaN 0 0 0 0.00308 0 6 152 TRIM58 25893 broad.mit.edu 37 1 248039733 248039733 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:248039733A>G uc001ido.2 + 6 1451 c.1403A>G c.(1402-1404)AAT>AGT p.N468S OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 468 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGGTCAGGAAATTGGGCATCC 0.448 NaN 0 0 0 0.009535 0 26 81 OR2T1 26696 broad.mit.edu 37 1 248570047 248570047 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:248570047T>C uc010pzm.1 + 1 752 c.752T>C c.(751-753)GTG>GCG p.V251A NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 251 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGATGTATGTGTGCTGTGTT 0.507 NaN 0 0 0 0.007291 0 26 89 SLC39A12 221074 broad.mit.edu 37 10 18289692 18289692 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:18289692C>T uc001ipo.2 + 11 1970 c.1697C>T c.(1696-1698)TCA>TTA p.S566L SLC39A12_uc001ipn.2_Missense_Mutation_p.S529L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S565L|SLC39A12_uc010qck.1_Missense_Mutation_p.S432L NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 566 Poly-Ser.|Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTCTCATCATCATCCGAGTCA 0.443 NaN 0 0 0 0.000602 0 5 75 KIAA1217 56243 broad.mit.edu 37 10 24822144 24822144 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:24822144A>G uc001iru.3 + 16 3795 c.3392A>G c.(3391-3393)GAC>GGC p.D1131G KIAA1217_uc001irs.2_Missense_Mutation_p.D1051G|KIAA1217_uc001irt.3_Missense_Mutation_p.D1096G|KIAA1217_uc010qcy.1_Missense_Mutation_p.D1095G|KIAA1217_uc010qcz.1_Missense_Mutation_p.D1096G|KIAA1217_uc001irw.2_Missense_Mutation_p.D814G|KIAA1217_uc001irz.2_Missense_Mutation_p.D814G|KIAA1217_uc001irx.2_Missense_Mutation_p.D814G|KIAA1217_uc001iry.2_Missense_Mutation_p.D814G NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1131 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GAAGAAGGAGACAAAATAATG 0.537 NaN 0 0 0 0.010729 0 9 72 PTCHD3 374308 broad.mit.edu 37 10 27703135 27703135 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:27703135C>T uc001itu.2 - 1 163 c.45G>A c.(43-45)AAG>AAA p.K15K NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 15 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TGAGCTTGGGCTTCTGCTCCG 0.642 NaN 0 0 0 0.007835 0 36 188 TMEM72 643236 broad.mit.edu 37 10 45430459 45430459 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:45430459C>T uc001jbn.2 + 5 902 c.705C>T c.(703-705)CTC>CTT p.L235L uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L117L NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 235 integral to membrane 0 TCCCCTCCCTCGCCGAAGGTC 0.602 NaN 0 0 0 0.008291 0 9 176 OGDHL 55753 broad.mit.edu 37 10 50957813 50957813 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:50957813T>A uc001jie.2 - 8 1088 c.946A>T c.(946-948)ATC>TTC p.I316F OGDHL_uc009xog.2_Missense_Mutation_p.I343F|OGDHL_uc010qgt.1_Missense_Mutation_p.I259F|OGDHL_uc010qgu.1_Missense_Mutation_p.I107F|OGDHL_uc009xoh.2_Missense_Mutation_p.I107F NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 316 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TGGCAGAAGATCTGCTCCAGG 0.662 NaN 0 0 0 0.000602 0 4 26 ARID5B 84159 broad.mit.edu 37 10 63850916 63850916 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:63850916C>T uc001jlt.1 + 10 1720 c.1694C>T c.(1693-1695)ACC>ATC p.T565I NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 565 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) CAGCCACTCACCTCTCCTAGT 0.562 NaN 0 0 0 0.004007 0 14 62 EGR2 1959 broad.mit.edu 37 10 64573654 64573654 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:64573654G>C uc010qim.1 - 3 898 c.744C>G c.(742-744)CCC>CCG p.P248P EGR2_uc010qin.1_Silent_p.P198P|EGR2_uc001jmi.2_Silent_p.P248P|EGR2_uc010qio.1_Silent_p.P261P|EGR2_uc009xph.2_Silent_p.P248P NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 248 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GGCAGGGAAAGGGCTTACGGT 0.597 NaN 0 0 0 0.007413 0 16 95 EGR2 1959 broad.mit.edu 37 10 64575748 64575748 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:64575748G>A uc010qim.1 - 2 196 c.42C>T c.(40-42)CTC>CTT p.L14L EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Silent_p.L14L|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Silent_p.L14L NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 14 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CAAAACCACTGAGAGTTACTG 0.572 NaN 0 0 0 0.00632 0 21 369 REEP3 221035 broad.mit.edu 37 10 65369972 65369972 + Nonsense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:65369972T>G uc001jmt.2 + 6 626 c.443T>G c.(442-444)TTA>TGA p.L148* NM_001001330 NP_001001330 Q6NUK4 REEP3_HUMAN receptor accessory protein 3 148 integral to membrane 0 Prostate(12;0.0119)|all_hematologic(501;0.191) ACTGAACGTTTAAGAAGCTTC 0.328 NaN 0 0 0 0.004672 0 3 10 DNA2 1763 broad.mit.edu 37 10 70182518 70182518 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:70182518G>A uc001jof.2 - 15 2596 c.2596C>T c.(2596-2598)CGG>TGG p.R866W DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 780 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 ACAAATCTCCGTGAAAAAAAA 0.408 NaN 0 0 0 0.00308 0 8 22 SYNPO2L 79933 broad.mit.edu 37 10 75407279 75407279 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:75407279G>C uc001jut.3 - 4 2283 c.2131C>G c.(2131-2133)CCC>GCC p.P711A SYNPO2L_uc001jus.3_Missense_Mutation_p.P487A NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 711 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) GGGGTCTTGGGAGCCATTGGA 0.627 NaN 0 0 0 0.006999 0 31 133 GRID1 2894 broad.mit.edu 37 10 87362131 87362131 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:87362131G>A uc001kdl.1 - 16 3030 c.2929C>T c.(2929-2931)CGG>TGG p.R977W GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.R548W|uc001kdk.1_Intron NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 977 Cytoplasmic (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GGGCTCTGCCGGAACAGCCCC 0.667 NaN Multiple Myeloma(13;0.14) 0 0 0 0.003954 0 21 96 NUP98 4928 broad.mit.edu 37 11 3746382 3746382 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:3746382C>T uc001lyh.2 - 15 2089 c.1798G>A c.(1798-1800)GAT>AAT p.D600N NUP98_uc001lyi.2_Missense_Mutation_p.D600N|NUP98_uc001lyj.1_Missense_Mutation_p.D600N|NUP98_uc001lyk.1_Missense_Mutation_p.D617N NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 617 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TTTTCTGAATCACGATTAACA 0.328 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 0 0 0 0.00308 0 7 57 OR52K2 119774 broad.mit.edu 37 11 4470668 4470668 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:4470668C>G uc001lyz.1 + 1 99 c.99C>G c.(97-99)TTC>TTG p.F33L NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCCCTTTCTGCTTAGCAT 0.517 NaN 0 0 0 0.010504 0 18 112 TEAD1 7003 broad.mit.edu 37 11 12901332 12901332 + Silent SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:12901332T>A uc001mkj.3 + 6 1028 c.363T>A c.(361-363)ATT>ATA p.I121I TEAD1_uc001mkk.3_Silent_p.I40I|TEAD1_uc009ygl.2_Silent_p.I15I NM_021961 NP_068780 P28347 TEAD1_HUMAN TEA domain family member 1 136 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CCACTGCCATTCATAACAAGC 0.597 NaN 0 0 0 0.001168 0 5 106 ACCSL 390110 broad.mit.edu 37 11 44075044 44075044 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:44075044A>C uc001mxw.1 + 8 1093 c.1037A>C c.(1036-1038)GAA>GCA p.E346A ACCSL_uc009ykr.2_Missense_Mutation_p.E165A NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 346 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 AAATACCTGGAATTTGCCAAG 0.433 NaN 0 0 0 0.008291 0 8 63 DGKZ 8525 broad.mit.edu 37 11 46397494 46397494 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:46397494G>T uc001ncn.1 + 22 2693 c.2568G>T c.(2566-2568)AAG>AAT p.K856N DGKZ_uc001nch.1_Missense_Mutation_p.K684N|DGKZ_uc010rgq.1_Missense_Mutation_p.K611N|DGKZ_uc001ncj.1_Missense_Mutation_p.K634N|DGKZ_uc010rgr.1_Missense_Mutation_p.K633N|DGKZ_uc001nck.1_Missense_Mutation_p.K446N|DGKZ_uc001ncl.2_Missense_Mutation_p.K668N|DGKZ_uc001ncm.2_Missense_Mutation_p.K667N|DGKZ_uc009yky.1_Missense_Mutation_p.K668N|DGKZ_uc010rgs.1_Missense_Mutation_p.K645N NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 856 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AGCAGCTCAAGGAGGCCTGTG 0.687 NaN 1 0 0.004672 0.004672 0.00475562 3 16 OR8H2 390151 broad.mit.edu 37 11 55872742 55872742 + Nonsense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:55872742C>G uc010riy.1 + 1 224 c.224C>G c.(223-225)TCA>TGA p.S75* NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CTCAGTTACTCAACTGTCGTC 0.438 NaN HNSCC(53;0.14) 0 0 0 0.004656 0 22 485 OR8H2 390151 broad.mit.edu 37 11 55873336 55873336 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:55873336T>C uc010riy.1 + 1 818 c.818T>C c.(817-819)GTG>GCG p.V273A NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) AGAGATCAAGTGGCTTCTGTT 0.373 NaN HNSCC(53;0.14) 0 0 0 0.007413 0 16 96 OR10Q1 219960 broad.mit.edu 37 11 57995840 57995840 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:57995840G>T uc010rkd.1 - 1 508 c.508C>A c.(508-510)CTG>ATG p.L170M NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) CAAAAGGGCAGGGTGAAGATT 0.652 NaN 1 0 0.000602214 0.000602 0.000615747 5 48 AHNAK 79026 broad.mit.edu 37 11 62291760 62291760 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62291760C>G uc001ntl.2 - 5 10429 c.10129G>C c.(10129-10131)GAT>CAT p.D3377H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3377 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATGTCAATATCTGGCTTTTTA 0.383 NaN 0 0 0 0.006214 0 8 95 AHNAK 79026 broad.mit.edu 37 11 62292043 62292043 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62292043C>G uc001ntl.2 - 5 10146 c.9846G>C c.(9844-9846)AAG>AAC p.K3282N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3282 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGTCAGGCATCTTCAGTTTTG 0.428 NaN 0 0 0 0.006214 0 6 121 AHNAK 79026 broad.mit.edu 37 11 62292768 62292768 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62292768C>G uc001ntl.2 - 5 9421 c.9121G>C c.(9121-9123)GAT>CAT p.D3041H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3041 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACATCCACATCTGGGCCCTCT 0.522 NaN 0 0 0 0.004289 0 28 401 AHNAK 79026 broad.mit.edu 37 11 62292797 62292797 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62292797C>G uc001ntl.2 - 5 9392 c.9092G>C c.(9091-9093)AGC>ACC p.S3031T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3031 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCCAGGCATGCTGAATTTGGG 0.532 NaN 0 0 0 0.005524 0 30 424 AHNAK 79026 broad.mit.edu 37 11 62294178 62294178 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62294178C>G uc001ntl.2 - 5 8011 c.7711G>C c.(7711-7713)GAG>CAG p.E2571Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2571 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATGTTCATCTCTGGCATCTTT 0.473 NaN 0 0 0 0.00333 0 19 260 METTL12 751071 broad.mit.edu 37 11 62434192 62434192 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62434192C>T uc001nug.1 + 3 651 c.392C>T c.(391-393)CCT>CTT p.P131L C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA NM_001043229 NP_001036694 A8MUP2 MTL12_HUMAN methyltransferase like 12 precursor 131 mitochondrion methyltransferase activity 0 CCTCTATGCCCTGGACACCCT 0.597 NaN 0 0 0 0.008291 0 11 61 ZBTB3 79842 broad.mit.edu 37 11 62521022 62521022 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:62521022G>C uc001nuz.2 - 2 387 c.265C>G c.(265-267)CGG>GGG p.R89G NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 89 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 AGCACAGCCCGATGGGCCAAG 0.557 NaN 0 0 0 0.009096 0 4 26 SLC29A2 3177 broad.mit.edu 37 11 66133943 66133943 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:66133943G>C uc001oht.2 - 8 1055 c.826C>G c.(826-828)CAG>GAG p.Q276E SLC29A2_uc001ohs.2_Missense_Mutation_p.Q156E|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.Q156E|SLC29A2_uc001ohu.2_Missense_Mutation_p.Q276E|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 276 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 CCTGGCTTCTGGGGCTCATCT 0.532 NaN 0 0 0 0.010729 0 10 56 C11orf80 79703 broad.mit.edu 37 11 66571581 66571581 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:66571581C>A uc001ojf.2 + 9 965 c.958C>A c.(958-960)CTG>ATG p.L320M C11orf80_uc001ojg.2_Missense_Mutation_p.L86M|C11orf80_uc001ojh.2_Missense_Mutation_p.L87M|C11orf80_uc001oji.2_Missense_Mutation_p.L87M|C11orf80_uc010rpk.1_Missense_Mutation_p.L155M NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 165 0 GTTGGGAGAACTGATACTGAC 0.463 NaN 1 0 1.59361e-14 0.006999 1.76421e-14 41 156 CLPB 81570 broad.mit.edu 37 11 72069953 72069953 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:72069953T>C uc001osj.2 - 6 886 c.836A>G c.(835-837)TAC>TGC p.Y279C CLPB_uc010rqx.1_Missense_Mutation_p.Y234C|CLPB_uc010rqy.1_Missense_Mutation_p.Y220C|CLPB_uc001osk.2_Missense_Mutation_p.Y249C|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.Y78C NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 279 ANK 3. cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 GACAGTGCGGTAGTCATCAGC 0.413 NaN 0 0 0 0.003163 0 11 143 CHRDL2 25884 broad.mit.edu 37 11 74422031 74422031 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:74422031G>C uc001ovi.2 - 4 548 c.295C>G c.(295-297)CAC>GAC p.H99D CHRDL2_uc001ovg.2_5'UTR|CHRDL2_uc001ovh.2_Missense_Mutation_p.H99D|CHRDL2_uc001ovk.1_Missense_Mutation_p.H99D Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 99 cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) GAGGGAGTGTGAGGTTCTGCA 0.517 NaN 0 0 0 0.006214 0 7 54 SESN3 143686 broad.mit.edu 37 11 94910950 94910950 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:94910950C>T uc001pfk.1 - 8 1402 c.1180G>A c.(1180-1182)GAG>AAG p.E394K SESN3_uc010rug.1_Missense_Mutation_p.E255K NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 394 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TCAACATCCTCATGGGTGGCC 0.388 NaN 0 0 0 0.013537 0 11 84 YAP1 10413 broad.mit.edu 37 11 102100657 102100657 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:102100657C>T uc001pgt.2 + 9 1871 c.1501C>T c.(1501-1503)CTT>TTT p.L501F YAP1_uc001pgs.2_Missense_Mutation_p.L451F|YAP1_uc001pgu.2_Missense_Mutation_p.L485F|YAP1_uc001pgv.2_Missense_Mutation_p.L447F|YAP1_uc010ruo.1_Missense_Mutation_p.L323F|YAP1_uc001pgw.2_Missense_Mutation_p.L325F|YAP1_uc010rup.1_Missense_Mutation_p.L266F NM_001130145 NP_001123617 P46937 YAP1_HUMAN Yes-associated protein 1, 65kDa isoform 1 501 Transactivation domain. 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) AGAAAGCTTTCTTACATGGTT 0.438 NaN 0 0 0 0.00278 0 19 118 DYNC2H1 79659 broad.mit.edu 37 11 103055726 103055726 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:103055726A>G uc001pho.2 + 41 6723 c.6579A>G c.(6577-6579)ATA>ATG p.I2193M DYNC2H1_uc001phn.1_Missense_Mutation_p.I2193M|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2193 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTAATCTCATAAGGGGACTTG 0.348 NaN 0 0 0 0.00333 0 20 53 DYNC2H1 79659 broad.mit.edu 37 11 103270433 103270433 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:103270433C>T uc001pho.2 + 84 12343 c.12199C>T c.(12199-12201)CGA>TGA p.R4067* DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R4074*|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4067 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCCTAACGATCGACAAGGATC 0.348 NaN 0 0 0 0.00499 0 13 31 ATM 472 broad.mit.edu 37 11 108122629 108122629 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:108122629G>T uc001pkb.1 + 11 2058 c.1673G>T c.(1672-1674)GGA>GTA p.G558V ATM_uc009yxr.1_Missense_Mutation_p.G558V NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 558 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 p.G558*(1) 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) GTAAAAATGGGAATAGAGCAA 0.353 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) 1 0 1.45105e-14 0.006122 1.61425e-14 16 87 ATM 472 broad.mit.edu 37 11 108201015 108201015 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:108201015G>C uc001pkb.1 + 50 7767 c.7382G>C c.(7381-7383)CGC>CCC p.R2461P ATM_uc009yxr.1_Missense_Mutation_p.R2461P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1113P|ATM_uc001pkg.1_Missense_Mutation_p.R818P NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2461 FAT. 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) GATCGTAAACGCTTCTTATGT 0.388 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 0.010729 0 10 44 ASAM 79827 broad.mit.edu 37 11 122953891 122953891 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:122953891A>G uc001pyt.2 - 5 940 c.581T>C c.(580-582)CTG>CCG p.L194P NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 194 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) ATTCTGCAGCAGAACTCGTCC 0.443 NaN 0 0 0 0.013537 0 11 134 ACRV1 56 broad.mit.edu 37 11 125547901 125547901 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr11:125547901G>A uc001qcs.2 - 2 611 c.344C>T c.(343-345)TCA>TTA p.S115L ACRV1_uc001qck.2_Missense_Mutation_p.S45L|ACRV1_uc001qcl.2_Missense_Mutation_p.S45L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S60L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S45L|ACRV1_uc001qcr.2_Missense_Mutation_p.S115L NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 115 4 X 4 AA repeats of S-G-E-H.|3-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA]. multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) CTGTTCTCCTGAAGGCTGCTC 0.527 NaN 0 0 0 0.010729 0 11 160 KDM5A 5927 broad.mit.edu 37 12 431654 431654 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:431654C>T uc001qif.1 - 17 2718 c.2355G>A c.(2353-2355)AGG>AGA p.R785R KDM5A_uc001qie.1_Silent_p.R785R|KDM5A_uc010sdn.1_Silent_p.R744R NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 785 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TTACAGCATCCCTGAGTTTTC 0.373 NaN T NUP98 AML 0 0 0 0.00499 0 16 143 PLEKHA5 54477 broad.mit.edu 37 12 19427653 19427653 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:19427653T>A uc001reb.2 + 10 1117 c.1031T>A c.(1030-1032)GTA>GAA p.V344E PLEKHA5_uc010sie.1_Missense_Mutation_p.V350E|PLEKHA5_uc001rea.2_Missense_Mutation_p.V344E|PLEKHA5_uc009zin.2_Missense_Mutation_p.V102E|PLEKHA5_uc010sif.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sig.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sih.1_Missense_Mutation_p.V236E|PLEKHA5_uc001rec.1_Missense_Mutation_p.V32E NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 344 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATTAATAGTGTAAAGCTGAAT 0.383 NaN 0 0 0 0.005443 0 23 127 C12orf77 196415 broad.mit.edu 37 12 25148970 25148970 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:25148970G>C uc001rgf.2 - 3 383 c.178C>G c.(178-180)CTA>GTA p.L60V NM_001101339 NP_001094809 C9JDV5 CL097_HUMAN hypothetical protein LOC196415 60 0 CCAGTGGGTAGAGAACCCGGC 0.458 NaN 0 0 0 0.001168 0 5 42 ITPR2 3709 broad.mit.edu 37 12 26647234 26647234 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:26647234G>A uc001rhg.2 - 39 5639 c.5222C>T c.(5221-5223)TCA>TTA p.S1741L ITPR2_uc009zjg.1_5'UTR NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 1741 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GTCTGACATTGATATCCCCAT 0.338 NaN 0 0 0 0.007413 0 13 53 TM7SF3 51768 broad.mit.edu 37 12 27135731 27135731 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:27135731G>C uc010sjl.1 - 7 1168 c.930C>G c.(928-930)TTC>TTG p.F310L NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 310 Phe-rich.|Helical; (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) TGTGTCCAAAGAAACAAATGA 0.368 NaN 0 0 0 0.00308 0 6 36 FAM60A 58516 broad.mit.edu 37 12 31446847 31446847 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:31446847C>T uc010sjz.1 - 4 486 c.247G>A c.(247-249)GGA>AGA p.G83R FAM60A_uc001rkd.2_Missense_Mutation_p.G83R|FAM60A_uc010ska.1_Missense_Mutation_p.G83R|FAM60A_uc001rke.2_Missense_Mutation_p.G83R|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.G108R NM_021238 NP_067061 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 83 0 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) AGACTGGGTCCAGCCCTTGCA 0.368 NaN 0 0 0 0.010729 0 11 71 MLL2 8085 broad.mit.edu 37 12 49433004 49433004 + Splice_Site SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:49433004C>A uc001rta.3 - 33 8366 c.8366_splice c.e33+1 p.R2789_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 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 TGGAGCCTCACCGGCTGTTCA 0.562 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 1 0 9.8876e-21 0.004878 1.12191e-20 27 143 METTL7A 25840 broad.mit.edu 37 12 51318851 51318851 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:51318851G>C uc001rxb.2 + 1 318 c.30G>C c.(28-30)CTG>CTC p.L10L METTL7A_uc010smv.1_Silent_p.L10L NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 10 Targeting to lipid droplets. endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 TCCTGAGACTGGCCATTTACA 0.453 NaN 0 0 0 0.012213 0 26 144 SLC4A8 9498 broad.mit.edu 37 12 51865155 51865155 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:51865155T>C uc001rys.1 + 14 1921 c.1743T>C c.(1741-1743)GAT>GAC p.D581D SLC4A8_uc010sni.1_Silent_p.D528D|SLC4A8_uc001rym.2_Silent_p.D528D|SLC4A8_uc001ryn.2_Silent_p.D528D|SLC4A8_uc001ryo.2_Silent_p.D528D|SLC4A8_uc010snj.1_Silent_p.D608D|SLC4A8_uc001ryq.3_Silent_p.D581D|SLC4A8_uc001ryr.2_Silent_p.D581D|SLC4A8_uc010snk.1_Silent_p.D528D NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 581 Helical; (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TGGCAACTGATGCCAGTTCCC 0.428 NaN 0 0 0 0.003271 0 31 146 SP1 6667 broad.mit.edu 37 12 53775912 53775912 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:53775912T>G uc001scw.2 + 3 278 c.181T>G c.(181-183)TTG>GTG p.L61V SP1_uc010sog.1_Missense_Mutation_p.L54V NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 61 Ser/Thr-rich.|Repressor domain. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) GCCATCCCCTTTGGCTCTGCT 0.542 NaN OREG0021870 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 16 75 HNRNPA1 3178 broad.mit.edu 37 12 54675607 54675607 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:54675607C>G uc001sfl.2 + 3 265 c.161C>G c.(160-162)TCC>TGC p.S54C CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zng.2_Missense_Mutation_p.S54C|HNRNPA1_uc009znh.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zni.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfn.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.S9C|HNRNPA1_uc009znj.1_Missense_Mutation_p.S9C NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 54 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 ACCAAGCGCTCCAGGGGCTTT 0.448 NaN 0 0 0 0.004482 0 7 30 INHBE 83729 broad.mit.edu 37 12 57850077 57850077 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:57850077G>A uc001snw.2 + 2 723 c.499G>A c.(499-501)GGC>AGC p.G167S NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 167 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 CACCAACCTGGGCTGGCATAC 0.577 NaN OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 87 336 TMEM5 10329 broad.mit.edu 37 12 64195998 64195998 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:64195998A>C uc001srq.1 + 4 660 c.556A>C c.(556-558)AAT>CAT p.N186H TMEM5_uc001srr.1_Missense_Mutation_p.N83H|TMEM5_uc001srs.1_5'UTR NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 186 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTATGCACAAAATTTAGTGCA 0.363 NaN 0 0 0 0.009096 0 4 62 IRAK3 11213 broad.mit.edu 37 12 66605244 66605244 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:66605244C>G uc001sth.2 + 5 557 c.455C>G c.(454-456)TCC>TGC p.S152C IRAK3_uc010ssy.1_Missense_Mutation_p.S91C NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 152 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) CTTAAATCTTCCATCAGCTTT 0.338 NaN 0 0 0 0.001168 0 6 47 PTPRR 5801 broad.mit.edu 37 12 71139613 71139613 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:71139613A>G uc001swi.1 - 6 1408 c.992T>C c.(991-993)ATA>ACA p.I331T PTPRR_uc001swh.1_Missense_Mutation_p.I86T|PTPRR_uc009zrs.2_Missense_Mutation_p.I180T|PTPRR_uc010stq.1_Missense_Mutation_p.I219T|PTPRR_uc010str.1_Missense_Mutation_p.I180T NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 331 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTGAAGTCCTATGGGCTTCAT 0.423 NaN 0 0 0 0.001168 0 5 49 TRHDE 29953 broad.mit.edu 37 12 72667281 72667281 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:72667281C>G uc001sxa.2 + 1 753 c.723C>G c.(721-723)ATC>ATG p.I241M LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 241 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ACGCGCTCATCGAGAATGAGC 0.587 NaN 0 0 0 0.014323 0 20 101 GLIPR1L2 144321 broad.mit.edu 37 12 75784898 75784898 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:75784898T>C uc001sxr.1 + 1 10 c.2T>C c.(1-3)ATG>ACG p.M1T CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.M1T|GLIPR1L2_uc001sxq.1_5'UTR NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 1 integral to membrane ovary(1) 1 CGGTGGACCATGGAGGCCGCA 0.682 NaN OREG0021999 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 3 21 LRRIQ1 84125 broad.mit.edu 37 12 85459088 85459088 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:85459088C>T uc001tac.2 + 9 2551 c.2440C>T c.(2440-2442)CTG>TTG p.L814L LRRIQ1_uc001tab.1_Silent_p.L814L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 814 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TCTCTCCACACTGGCAGAGTG 0.383 NaN 0 0 0 0.003954 0 22 114 USP44 84101 broad.mit.edu 37 12 95926706 95926706 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:95926706C>T uc001teg.2 - 2 1471 c.1327G>A c.(1327-1329)GGT>AGT p.G443S USP44_uc001teh.2_Missense_Mutation_p.G443S|USP44_uc009zte.2_Missense_Mutation_p.G440S NM_001042403 NP_001035862 Q9H0E7 UBP44_HUMAN ubiquitin thiolesterase 44 443 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1)|breast(1)|central_nervous_system(1) 3 AAACTGGTACCAGTTGTCTCT 0.388 NaN 0 0 0 0.010729 0 10 54 HAL 3034 broad.mit.edu 37 12 96370219 96370219 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:96370219G>A uc001tem.1 - 20 2118 c.1821C>T c.(1819-1821)CTC>CTT p.L607L HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.L399L|HAL_uc010sux.1_Intron NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 607 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) TCTGCTCCAGGAGCAGCCTGT 0.507 NaN 0 0 0 0.00278 0 19 96 APAF1 317 broad.mit.edu 37 12 99076995 99076995 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:99076995C>T uc001tfz.2 + 15 2698 c.2121C>T c.(2119-2121)TTC>TTT p.F707F APAF1_uc001tfy.2_Silent_p.F696F|APAF1_uc001tga.2_Silent_p.F696F|APAF1_uc001tgb.2_Silent_p.F707F|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.F116F NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 707 WD 3. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) GCTGCCATTTCACCAACAGTA 0.383 NaN 0 0 0 0.014323 0 19 183 C12orf48 55010 broad.mit.edu 37 12 102589201 102589201 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:102589201C>T uc001tjf.2 + 10 1487 c.1375C>T c.(1375-1377)CTT>TTT p.L459F C12orf48_uc001tjg.2_Missense_Mutation_p.L378F|C12orf48_uc010swa.1_Missense_Mutation_p.L536F|C12orf48_uc001tjh.2_Missense_Mutation_p.L378F|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.L174F|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 459 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 TTTGTGTGTTCTTTACATGGA 0.264 NaN 0 0 0 0.006122 0 15 142 NOS1 4842 broad.mit.edu 37 12 117696896 117696896 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:117696896G>C uc001twm.1 - 15 3093 c.2407C>G c.(2407-2409)CAT>GAT p.H803D NOS1_uc001twn.1_5'Flank NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 803 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) AGAGTTTCATGTTCCAGGTGC 0.408 NaN 0 0 0 0.010729 0 9 102 COX6A1 1337 broad.mit.edu 37 12 120875952 120875952 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:120875952C>T uc001tyf.1 + 1 49 c.23C>T c.(22-24)TCG>TTG p.S8L NM_004373 NP_004364 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 8 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGTGTCCTCGGTTTCTCGG 0.637 NaN 0 0 0 0.00308 0 6 32 C12orf43 64897 broad.mit.edu 37 12 121454163 121454163 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:121454163G>A uc001tzh.1 - 1 138 c.115C>T c.(115-117)CGC>TGC p.R39C C12orf43_uc009zxa.1_Missense_Mutation_p.R39C|C12orf43_uc010szo.1_Translation_Start_Site|C12orf43_uc010szp.1_Missense_Mutation_p.R39C|C12orf43_uc001tzi.1_Missense_Mutation_p.R39C NM_022895 NP_075046 Q96C57 CL043_HUMAN hypothetical protein LOC64897 39 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACGTGCGGGCGTTGCTCCAAG 0.627 NaN 0 0 0 0.008291 0 10 50 KNTC1 9735 broad.mit.edu 37 12 123087591 123087591 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:123087591G>A uc001ucv.2 + 48 5065 c.4902G>A c.(4900-4902)CTG>CTA p.L1634L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1634 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGGACACTCTGTACGTGTCTA 0.363 NaN 0 0 0 0.004672 0 3 24 UFM1 51569 broad.mit.edu 37 13 38924164 38924164 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:38924164A>T uc001uwu.2 + 2 146 c.31A>T c.(31-33)ACG>TCG p.T11S UFM1_uc010abz.2_Missense_Mutation_p.T11S|UFM1_uc010aca.2_Missense_Mutation_p.T11S NM_016617 NP_057701 P61960 UFM1_HUMAN ubiquitin-fold modifier 1 precursor 11 protein ufmylation cytoplasm|nucleus protein binding 0 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) GATCACGCTGACGTCGGACCC 0.582 NaN 0 0 0 0.010504 0 19 126 FREM2 341640 broad.mit.edu 37 13 39446912 39446912 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:39446912C>T uc001uwv.2 + 17 8326 c.8017C>T c.(8017-8019)CGA>TGA p.R2673* NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2673 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTGACCCTTCGAGTCCCTCT 0.438 NaN 0 0 0 0.003954 0 21 91 AKAP11 11215 broad.mit.edu 37 13 42876351 42876351 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:42876351A>G uc001uys.1 + 8 3644 c.3469A>G c.(3469-3471)ATA>GTA p.I1157V NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1157 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ACAAAATACTATAGAAAAAGA 0.423 NaN 0 0 0 0.000602 0 5 115 RCBTB2 1102 broad.mit.edu 37 13 49064303 49064303 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:49064303C>T uc001vch.2 - 15 1971 c.1600G>A c.(1600-1602)GAT>AAT p.D534N RCBTB2_uc001vcg.2_RNA|RCBTB2_uc010tgg.1_Missense_Mutation_p.D539N|RCBTB2_uc001vci.2_Missense_Mutation_p.D510N|RCBTB2_uc010tgh.1_Missense_Mutation_p.D260N|RCBTB2_uc001vcj.2_Missense_Mutation_p.D486N NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 534 Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TTCAGGAGATCATGGTCCATT 0.398 NaN 0 0 0 0.006214 0 7 106 KLHL1 57626 broad.mit.edu 37 13 70535552 70535552 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:70535552G>T uc001vip.2 - 3 1499 c.705C>A c.(703-705)GAC>GAA p.D235E KLHL1_uc010thm.1_Missense_Mutation_p.D174E NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 235 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCGCAAAATAGTCGGAGACTG 0.443 NaN 1 0 6.40141e-05 0.010729 6.60463e-05 10 58 C13orf34 79866 broad.mit.edu 37 13 73305498 73305498 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:73305498G>C uc001viv.1 + 3 352 c.233G>C c.(232-234)CGT>CCT p.R78P C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.R153P|C13orf34_uc010thr.1_Intron|C13orf34_uc001viw.1_Intron NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 78 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) GATATTCATCGTCAAGCTTTA 0.353 NaN 0 0 0 0.001984 0 5 95 LMO7 4008 broad.mit.edu 37 13 76397778 76397778 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:76397778A>G uc001vjv.2 + 12 2779 c.2019A>G c.(2017-2019)GCA>GCG p.A673A LMO7_uc010thv.1_Silent_p.A624A|LMO7_uc001vjt.1_Silent_p.A572A|LMO7_uc010thw.1_Silent_p.A523A|LMO7_uc001vjw.1_Silent_p.A579A NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 958 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GCACCCCTGCACCAAGCCCGG 0.453 NaN 0 0 0 0.00278 0 23 87 EDNRB 1910 broad.mit.edu 37 13 78477304 78477304 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:78477304G>A uc001vko.2 - 3 1046 c.788C>T c.(787-789)ACA>ATA p.T263I EDNRB_uc001vkq.1_Missense_Mutation_p.T263I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.T263I|EDNRB_uc001vkp.1_Missense_Mutation_p.T346I NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 263 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CATGAAAGCTGTCTTCTGAAC 0.403 NaN 0 0 0 0.006122 0 13 83 CLYBL 171425 broad.mit.edu 37 13 100425084 100425084 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:100425084G>A uc001vok.2 + 2 83 c.69G>A c.(67-69)GCG>GCA p.A23A CLYBL_uc010tix.1_Silent_p.A23A|CLYBL_uc010tiy.1_Silent_p.A23A NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 23 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAGGAAAGCGTCTCTAGCAG 0.393 NaN 0 0 0 0.005524 0 33 174 TNFSF13B 10673 broad.mit.edu 37 13 108922324 108922325 + Missense_Mutation DNP TG TG GA TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:108922324_108922325TG>GA uc001vqr.2 + 1 348_349 c.81_82TG>GA c.(79-84)TGTGTT>TGGATT p.27_28CV>WI TNFSF13B_uc010agj.2_Missense_Mutation_p.27_28CV>WI NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 27_28 Cytoplasmic (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) TGAAGGAGTGTGTTTCCATCCT 0.495 NaN 0 0 0 0.004672 0 12 219 MYO16 23026 broad.mit.edu 37 13 109672259 109672259 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr13:109672259G>A uc001vqt.1 + 23 2856 c.2730G>A c.(2728-2730)AGG>AGA p.R910R MYO16_uc010agk.1_Silent_p.R932R|MYO16_uc001vqu.1_Silent_p.R710R|MYO16_uc010tjh.1_Silent_p.R422R NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 910 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACGCAGGAAGGGTAAGTGGCC 0.448 NaN 0 0 0 0.010729 0 10 65 CHD8 57680 broad.mit.edu 37 14 21870182 21870182 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:21870182C>T uc001was.1 - 20 3253 c.3159G>A c.(3157-3159)CAG>CAA p.Q1053Q CHD8_uc001war.1_Silent_p.Q949Q|CHD8_uc001wav.1_Silent_p.Q495Q NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1332 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) TTAACAAGATCTGGTCAATGT 0.413 NaN 0 0 0 0.001855 0 12 156 CHD8 57680 broad.mit.edu 37 14 21870572 21870572 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:21870572C>G uc001was.1 - 19 3062 c.2968G>C c.(2968-2970)GAT>CAT p.D990H CHD8_uc001war.1_Missense_Mutation_p.D886H|CHD8_uc001wav.1_Missense_Mutation_p.D432H NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1269 Helicase C-terminal. 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) CTGGCCTTATCAAACATCTCT 0.483 NaN 0 0 0 0.001984 0 6 116 DCAF11 80344 broad.mit.edu 37 14 24588376 24588376 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:24588376G>C uc001wlv.2 + 9 1082 c.802G>C c.(802-804)GTC>CTC p.V268L DCAF11_uc001wlw.2_Missense_Mutation_p.V268L|DCAF11_uc001wlz.2_Missense_Mutation_p.V168L|DCAF11_uc001wly.2_Missense_Mutation_p.V224L|DCAF11_uc001wme.2_Missense_Mutation_p.V228L|DCAF11_uc010tny.1_Missense_Mutation_p.V135L|DCAF11_uc001wmd.2_Missense_Mutation_p.V268L|DCAF11_uc001wmc.2_Missense_Mutation_p.V168L|DCAF11_uc001wmb.3_Missense_Mutation_p.V242L|DCAF11_uc001wma.3_Missense_Mutation_p.V268L NM_001163484 NP_001156956 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 isoform 1 268 WD 3. CUL4 RING ubiquitin ligase complex protein binding 0 TCGCTTTGCTGTCTTCTCCAT 0.463 NaN 0 0 0 0.00278 0 17 155 MAPK1IP1L 93487 broad.mit.edu 37 14 55529993 55529993 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:55529993C>T uc001xbq.1 + 3 840 c.676C>T c.(676-678)CAA>TAA p.Q226* NM_144578 NP_653179 Q8NDC0 MISSL_HUMAN MAPK-interacting and spindle-stabilizing 226 Pro-rich. 0 TAATCCTTTCCAAGTGCCTTC 0.512 NaN 0 0 0 0.006214 0 9 102 KCNH5 27133 broad.mit.edu 37 14 63174336 63174336 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:63174336G>C uc001xfx.2 - 11 2908 c.2857C>G c.(2857-2859)CCC>GCC p.P953A KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 953 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGGGATTTGGGAGATGAGGCC 0.463 NaN 0 0 0 0.010504 0 19 211 KCNH5 27133 broad.mit.edu 37 14 63174651 63174651 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:63174651C>G uc001xfx.2 - 11 2593 c.2542G>C c.(2542-2544)GAT>CAT p.D848H KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 848 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCTCTGAATCACTGCTCTTG 0.438 NaN 0 0 0 0.003163 0 12 117 FUT8 2530 broad.mit.edu 37 14 66208906 66208906 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:66208906G>C uc001xin.2 + 11 2703 c.1506G>C c.(1504-1506)CAG>CAC p.Q502H FUT8_uc001xio.2_Missense_Mutation_p.Q502H|FUT8_uc010tsp.1_Missense_Mutation_p.Q339H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Q502H|FUT8_uc001xiq.2_Missense_Mutation_p.Q373H|FUT8_uc001xis.2_Missense_Mutation_p.Q96H NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 502 SH3.|Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TTGGGGGCCAGAATGCCCACA 0.433 NaN 0 0 0 0.004482 0 8 172 PLEKHH1 57475 broad.mit.edu 37 14 68040539 68040539 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:68040539C>T uc001xjl.1 + 13 2003 c.1861C>T c.(1861-1863)CAA>TAA p.Q621* PLEKHH1_uc010tsw.1_Nonsense_Mutation_p.Q189*|PLEKHH1_uc001xjm.1_Nonsense_Mutation_p.Q136*|PLEKHH1_uc001xjn.1_Nonsense_Mutation_p.Q136* NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 621 PH 1. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCGGAAACCTCAAGGCCAAGT 0.502 NaN 0 0 0 0.006214 0 7 131 PLEKHH1 57475 broad.mit.edu 37 14 68040602 68040602 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:68040602C>G uc001xjl.1 + 13 2066 c.1924C>G c.(1924-1926)CAG>GAG p.Q642E PLEKHH1_uc010tsw.1_Missense_Mutation_p.Q210E|PLEKHH1_uc001xjm.1_Missense_Mutation_p.Q157E|PLEKHH1_uc001xjn.1_Missense_Mutation_p.Q157E NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 642 PH 1. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACAGACGTTTCAGGTGAGCAC 0.488 NaN 0 0 0 0.004482 0 7 93 ANGEL1 23357 broad.mit.edu 37 14 77255678 77255678 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:77255678G>A uc001xsv.2 - 10 2019 c.1906C>T c.(1906-1908)CTC>TTC p.L636F uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 636 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TCTTCAGAGAGAAGGGAGAGA 0.562 NaN 0 0 0 0.007413 0 14 169 STON2 85439 broad.mit.edu 37 14 81743987 81743987 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:81743987T>C uc010tvu.1 - 4 1869 c.1668A>G c.(1666-1668)TCA>TCG p.S556S STON2_uc001xvk.1_Silent_p.S556S|STON2_uc010tvt.1_Silent_p.S353S NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 556 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) TCAAGTCCATTGACAACACTG 0.478 NaN 0 0 0 0.001168 0 6 43 SEL1L 6400 broad.mit.edu 37 14 81950697 81950697 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:81950697C>A uc010tvv.1 - 19 2035 c.1918G>T c.(1918-1920)GGG>TGG p.G640W NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 640 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 10. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) GTGCCAAACCCATAGAAATGG 0.368 NaN 1 0 2.4624e-09 0.008871 2.65495e-09 18 161 SPATA7 55812 broad.mit.edu 37 14 88883148 88883148 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:88883148A>G uc001xwq.2 + 5 483 c.332A>G c.(331-333)TAT>TGT p.Y111C SPATA7_uc001xwr.2_Missense_Mutation_p.Y79C|SPATA7_uc001xws.2_Missense_Mutation_p.Y47C|SPATA7_uc001xwt.2_Missense_Mutation_p.Y5C NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 111 response to stimulus|visual perception ovary(1) 1 CGAGCCAATTATAAAAATAAT 0.294 NaN 0 0 0 0.004482 0 7 76 ZC3H14 79882 broad.mit.edu 37 14 89044449 89044449 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:89044449A>G uc001xww.2 + 9 1469 c.1244A>G c.(1243-1245)GAG>GGG p.E415G ZC3H14_uc010twd.1_Missense_Mutation_p.E415G|ZC3H14_uc010twe.1_Missense_Mutation_p.E415G|ZC3H14_uc001xwx.2_Missense_Mutation_p.E415G|ZC3H14_uc010twf.1_Missense_Mutation_p.E260G|ZC3H14_uc001xwy.2_Missense_Mutation_p.E381G|ZC3H14_uc010twg.1_Missense_Mutation_p.E260G|ZC3H14_uc001xxa.2_5'UTR NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 415 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 ATTAAAGAAGAGGAAACAAAA 0.388 NaN 0 0 0 0.00308 0 6 107 PAPOLA 10914 broad.mit.edu 37 14 96998956 96998956 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:96998956T>C uc001yfq.2 + 9 1016 c.806T>C c.(805-807)GTA>GCA p.V269A PAPOLA_uc001yfp.2_Missense_Mutation_p.V269A|PAPOLA_uc001yfr.2_Missense_Mutation_p.V269A|PAPOLA_uc010twv.1_Missense_Mutation_p.V269A|PAPOLA_uc010avp.2_Missense_Mutation_p.V19A NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 269 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCAACTCTTGTACATAAATTT 0.313 NaN 0 0 0 0.001984 0 5 61 TECPR2 9895 broad.mit.edu 37 14 102904529 102904529 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:102904529A>G uc001ylw.1 + 10 2713 c.2565A>G c.(2563-2565)GCA>GCG p.A855A TECPR2_uc010awl.2_Silent_p.A855A|TECPR2_uc010txx.1_Silent_p.A18A NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 855 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 AGCAGGTGGCAGTCTCGCCCT 0.438 NaN OREG0022547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 9 54 AMN 81693 broad.mit.edu 37 14 103390133 103390133 + Nonsense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr14:103390133C>A uc001ymg.3 + 2 162 c.129C>A c.(127-129)TGC>TGA p.C43* AMN_uc001ymh.3_5'UTR NM_030943 NP_112205 Q9BXJ7 AMNLS_HUMAN amnionless protein precursor 43 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane 0 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGACCCCGTGCGCCGGCGGCG 0.716 NaN 1 0 2.17888e-05 0.006214 2.25829e-05 10 48 CYFIP1 23191 broad.mit.edu 37 15 23003016 23003016 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:23003016C>G uc001yus.2 + 31 3842 c.3738C>G c.(3736-3738)ATC>ATG p.I1246M CYFIP1_uc001yut.2_Missense_Mutation_p.I1246M|CYFIP1_uc001yuu.2_Missense_Mutation_p.I815M|CYFIP1_uc001yuv.2_Missense_Mutation_p.I440M NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 1246 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) AGCCGCCCATCCACCAGTCCC 0.552 NaN 0 0 0 0.000602 0 5 38 C15orf55 256646 broad.mit.edu 37 15 34640674 34640674 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:34640674C>T uc001zif.2 + 2 676 c.521C>T c.(520-522)CCC>CTC p.P174L C15orf55_uc010ucc.1_Missense_Mutation_p.P202L|C15orf55_uc010ucd.1_Missense_Mutation_p.P192L NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 174 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CCCATTGTGCCCCTGGAAAAA 0.597 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 0.004672 0 3 26 ZNF770 54989 broad.mit.edu 37 15 35275416 35275416 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:35275416G>A uc001ziw.2 - 3 531 c.220C>T c.(220-222)CAA>TAA p.Q74* NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 74 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TGAGTTAGTTGATGCCTCTCC 0.358 NaN 0 0 0 0.003163 0 12 84 CASC5 57082 broad.mit.edu 37 15 40917631 40917631 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:40917631C>T uc010bbs.1 + 11 5408 c.5247C>T c.(5245-5247)ATC>ATT p.I1749I CASC5_uc010ucq.1_Silent_p.I1573I|CASC5_uc001zme.2_Silent_p.I1723I|CASC5_uc010bbt.1_Silent_p.I1723I NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1749 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) CTGATGAGATCAATTCTTCAG 0.343 NaN 0 0 0 0.004007 0 15 114 INO80 54617 broad.mit.edu 37 15 41347486 41347486 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:41347486T>A uc001zni.2 - 18 2360 c.2147A>T c.(2146-2148)GAC>GTC p.D716V INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 716 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 GCTCTCAATGTCCTTGGAAAA 0.378 NaN 0 0 0 0.00499 0 16 76 EXD1 161829 broad.mit.edu 37 15 41482170 41482170 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:41482170G>T uc001znk.2 - 9 1038 c.847C>A c.(847-849)CGC>AGC p.R283S EXD1_uc001znj.2_Missense_Mutation_p.R81S|EXD1_uc010ucv.1_Missense_Mutation_p.R341S NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 283 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 GACCCTTCGCGATACGTGTTT 0.547 NaN 1 0 2.17888e-05 0.006214 2.25829e-05 7 132 SPTBN5 51332 broad.mit.edu 37 15 42171661 42171661 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:42171661G>C uc001zos.2 - 16 3207 c.2874C>G c.(2872-2874)GCC>GCG p.A958A NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 993 Spectrin 7. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCAGCTGCACGGCCTTCTCCC 0.632 NaN 0 0 0 0.009096 0 4 6 FBN1 2200 broad.mit.edu 37 15 48725087 48725087 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:48725087T>C uc001zwx.1 - 55 7043 c.6715A>G c.(6715-6717)AGA>GGA p.R2239G FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2239 EGF-like 38; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGGTCTTCTCTGAGCACATAT 0.468 NaN 0 0 0 0.007835 0 30 171 FBN1 2200 broad.mit.edu 37 15 48773879 48773879 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:48773879C>G uc001zwx.1 - 32 4265 c.3937G>C c.(3937-3939)GGC>CGC p.G1313R NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1313 EGF-like 21; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCTTTTTTGCCGGAGTAGCCC 0.373 NaN 0 0 0 0.00499 0 14 137 CYP19A1 1588 broad.mit.edu 37 15 51514603 51514603 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:51514603G>A uc001zyz.3 - 6 822 c.571C>T c.(571-573)CTG>TTG p.L191L CYP19A1_uc001zza.3_Silent_p.L191L|CYP19A1_uc001zzb.2_Silent_p.L191L|CYP19A1_uc001zzd.2_Silent_p.L191L|CYP19A1_uc010bey.1_Silent_p.L191L NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 191 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ACACGACGCAGAAGGGTCAAC 0.488 NaN 0 0 0 0.006214 0 8 96 DMXL2 23312 broad.mit.edu 37 15 51792343 51792343 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:51792343G>C uc002abf.2 - 18 3303 c.3078C>G c.(3076-3078)TTC>TTG p.F1026L DMXL2_uc010ufy.1_Missense_Mutation_p.F1026L|DMXL2_uc010bfa.2_Intron NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1026 WD 8. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AACATTTCCAGAAGCGTACTT 0.363 NaN 0 0 0 0.001168 0 5 108 LIPC 3990 broad.mit.edu 37 15 58855759 58855759 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:58855759G>C uc010bga.1 + 10 1833 c.1225G>C c.(1225-1227)GAT>CAT p.D409H LIPC_uc010bfz.1_Missense_Mutation_p.D409H|LIPC_uc002afa.1_Missense_Mutation_p.D409H|LIPC_uc010bgb.1_Missense_Mutation_p.D307H|LIPC_uc010ugy.1_Missense_Mutation_p.D348H NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 409 PLAT. D -> A. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GCTGGATGTGGATATCGGCGA 0.453 NaN 0 0 0 0.006214 0 9 176 VPS13C 54832 broad.mit.edu 37 15 62167121 62167121 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:62167121T>C uc002agz.2 - 77 10442 c.10368A>G c.(10366-10368)GCA>GCG p.A3456A VPS13C_uc002aha.2_Silent_p.A3413A|VPS13C_uc002ahb.1_Silent_p.A3456A|VPS13C_uc002ahc.1_Silent_p.A3413A NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3456 protein localization ovary(2) 2 CTAACCCCTCTGCAAATTCTT 0.294 NaN 0 0 0 0.01441 0 45 220 TLN2 83660 broad.mit.edu 37 15 63032843 63032843 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:63032843G>C uc002alb.3 + 29 3900 c.3900G>C c.(3898-3900)CAG>CAC p.Q1300H TLN2_uc002alc.3_5'UTR NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1300 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AAGAAGACCAGATCCAAGTGA 0.502 NaN 0 0 0 0.010504 0 21 101 DENND4A 10260 broad.mit.edu 37 15 66021464 66021464 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:66021464T>C uc002aph.2 - 11 1811 c.1433A>G c.(1432-1434)TAT>TGT p.Y478C DENND4A_uc002api.2_Missense_Mutation_p.Y478C|DENND4A_uc002apj.3_Missense_Mutation_p.Y478C|DENND4A_uc010ujj.1_Missense_Mutation_p.Y478C NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 478 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TGGAGGATCATAGAGATCAAA 0.393 NaN 0 0 0 0.00308 0 5 19 RAB11A 8766 broad.mit.edu 37 15 66172008 66172008 + Splice_Site SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:66172008G>A uc002apk.2 + 4 559 c.431_splice c.e4-1 p.E144_splice RAB11A_uc010ujk.1_Splice_Site_p.E144_splice NM_004663 NP_004654 P62491 RB11A_HUMAN Ras-related protein Rab-11A cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network GTP binding|GTPase activity|syntaxin binding 0 TCTCCCCTCAGAAAAGAATGG 0.338 NaN 0 0 0 0.008291 0 10 155 ACSBG1 23205 broad.mit.edu 37 15 78475048 78475048 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:78475048G>A uc002bdh.2 - 6 799 c.743C>T c.(742-744)ACG>ATG p.T248M ACSBG1_uc010umw.1_Missense_Mutation_p.T244M|ACSBG1_uc010umx.1_Missense_Mutation_p.T6M|ACSBG1_uc010umy.1_Missense_Mutation_p.T141M NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 248 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 TGCCCATACCGTGTACACATT 0.537 NaN 0 0 0 0.004289 0 27 161 FAM154B 283726 broad.mit.edu 37 15 82575106 82575106 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:82575106T>C uc002bgv.2 + 3 969 c.900T>C c.(898-900)ATT>ATC p.I300I FAM154B_uc010unr.1_Silent_p.I285I|FAM154B_uc010uns.1_RNA NM_001008226 NP_001008227 Q658L1 F154B_HUMAN hypothetical protein LOC283726 300 skin(2) 2 AAGGACTTATTAAGAAGCAGC 0.398 NaN 0 0 0 0.014323 0 16 74 ADAMTSL3 57188 broad.mit.edu 37 15 84651116 84651116 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:84651116G>T uc002bjz.3 + 21 2960 c.2736G>T c.(2734-2736)AAG>AAT p.K912N ADAMTSL3_uc010bmt.1_Missense_Mutation_p.K912N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K912N NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 912 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGAAGAGAAGCGTATTAACC 0.468 NaN 1 0 0.000157383 0.00308 0.000161646 8 99 ADAMTSL3 57188 broad.mit.edu 37 15 84651605 84651605 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:84651605G>A uc002bjz.3 + 21 3449 c.3225G>A c.(3223-3225)TTG>TTA p.L1075L ADAMTSL3_uc010bmt.1_Silent_p.L1075L|ADAMTSL3_uc010bmu.1_Silent_p.L1075L NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1075 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTGGGAGTTGAAGAATAAGC 0.443 NaN 0 0 0 0.001168 0 6 72 AGBL1 123624 broad.mit.edu 37 15 86702233 86702233 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:86702233C>A uc002blz.1 + 4 406 c.326C>A c.(325-327)ACC>AAC p.T109N NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 109 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ACTCCTTACACCCGAAAGCGC 0.438 NaN 1 0 5.61819e-17 0.005443 6.28078e-17 18 117 NTRK3 4916 broad.mit.edu 37 15 88679230 88679230 + Silent SNP C C G rs141317844 by1000genomes TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:88679230C>G uc002bme.1 - 8 969 c.807G>C c.(805-807)ACG>ACC p.T269T NTRK3_uc002bmh.2_Silent_p.T269T|NTRK3_uc002bmf.1_Silent_p.T269T|NTRK3_uc010upl.1_Silent_p.T171T|NTRK3_uc010bnh.1_Silent_p.T269T|NTRK3_uc002bmg.2_Silent_p.T269T NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 269 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CATTCACCAGCGTCAAGTTGA 0.478 NaN T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 0 0 0 0.008871 0 16 154 CRTC3 64784 broad.mit.edu 37 15 91169176 91169176 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:91169176G>A uc002bpp.2 + 10 1024 c.918G>A c.(916-918)GTG>GTA p.V306V CRTC3_uc002bpo.2_Silent_p.V306V NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 306 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) GGAATAGTGTGAACAACATCC 0.537 NaN T MAML2 salivary gland mucoepidermoid 0 0 0 0.00874 0 34 500 CHD2 1106 broad.mit.edu 37 15 93496669 93496669 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr15:93496669C>A uc002bsp.2 + 14 2160 c.1585C>A c.(1585-1587)CAA>AAA p.Q529K CHD2_uc002bso.1_Missense_Mutation_p.Q529K NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 529 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCTGTTCCACCAACACCAGCT 0.443 NaN 1 0 9.86323e-18 0.003954 1.10536e-17 24 108 ZNF213 7760 broad.mit.edu 37 16 3189016 3189016 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:3189016G>C uc010uws.1 + 5 1085 c.638G>C c.(637-639)CGG>CCG p.R213P ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.R213P|ZNF213_uc010uwt.1_Silent_p.P188P NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 213 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TATTTCTCCCGGGAAGAATGG 0.617 NaN 0 0 0 0.013537 0 9 170 ATF7IP2 80063 broad.mit.edu 37 16 10524885 10524885 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:10524885T>G uc002czu.2 + 3 635 c.408T>G c.(406-408)GAT>GAG p.D136E ATF7IP2_uc002czv.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AGGCAAAAGATTCACTGAACA 0.413 NaN 0 0 0 0.003271 0 27 103 KIAA0430 9665 broad.mit.edu 37 16 15728731 15728731 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:15728731T>A uc002ddr.2 - 4 1082 c.889A>T c.(889-891)AAT>TAT p.N297Y KIAA0430_uc002ddq.2_Missense_Mutation_p.N296Y|KIAA0430_uc010uzv.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzw.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzx.1_3'UTR NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 296 peroxisome nucleotide binding|RNA binding 0 GGTTGAGTATTTGGAGGTGGT 0.443 NaN 0 0 0 0.00308 0 7 174 DNAH3 55567 broad.mit.edu 37 16 20975225 20975225 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:20975225A>G uc010vbe.1 - 53 9981 c.9981T>C c.(9979-9981)AAT>AAC p.N3327N DNAH3_uc010vbd.1_Silent_p.N762N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3327 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCATGTAGAGATTTATGAACC 0.488 NaN 0 0 0 0.010729 0 10 127 CRYM 1428 broad.mit.edu 37 16 21273477 21273477 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:21273477C>G uc002dik.2 - 6 761 c.676G>C c.(676-678)GTT>CTT p.V226L CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.V184L|CRYM_uc002dim.2_Missense_Mutation_p.V226L NM_001888 NP_001879 Q14894 CRYM_HUMAN crystallin, mu isoform 1 226 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity 0 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CTGGCTCCAACAGCTAAGAGA 0.522 NaN 0 0 0 0.001984 0 5 40 RABEP2 79874 broad.mit.edu 37 16 28919983 28919983 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:28919983G>A uc002drq.2 - 8 1240 c.1192C>T c.(1192-1194)CAG>TAG p.Q398* uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q327*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q366* NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 398 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 TGCGAGCCCTGGGGGGCTGAG 0.642 NaN 0 0 0 0.008871 0 19 191 CD2BP2 10421 broad.mit.edu 37 16 30365608 30365608 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:30365608C>T uc002dxr.2 - 2 367 c.114G>A c.(112-114)GGG>GGA p.G38G CD2BP2_uc002dxs.2_Silent_p.G38G NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 38 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 TAAAGCGGCTCCCAGGACCCC 0.537 NaN 0 0 0 0.010818 0 25 362 RPGRIP1L 23322 broad.mit.edu 37 16 53636095 53636095 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:53636095C>G uc002ehp.2 - 27 3905 c.3841G>C c.(3841-3843)GAT>CAT p.D1281H RPGRIP1L_uc002eho.3_Missense_Mutation_p.D1201H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.D1235H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.D1247H NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 1281 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GCTCGTGCATCAAAAACTAGG 0.423 NaN 0 0 0 0.00308 0 5 56 IRX6 79190 broad.mit.edu 37 16 55360337 55360337 + Silent SNP C C G rs139857215 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:55360337C>G uc002ehy.2 + 2 668 c.135C>G c.(133-135)CCC>CCG p.P45P IRX6_uc002ehx.2_Silent_p.P45P|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 45 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CCCCAGCGCCCGCTCTCTGCT 0.637 NaN 0 0 0 0.006214 0 7 61 IRX6 79190 broad.mit.edu 37 16 55362966 55362966 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:55362966C>T uc002ehy.2 + 5 1609 c.1076C>T c.(1075-1077)ACA>ATA p.T359I IRX6_uc002ehx.2_Missense_Mutation_p.T359I NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 359 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CACACCGCGACAGCCAGCGCT 0.637 NaN 0 0 0 0.008871 0 14 104 NLRC5 84166 broad.mit.edu 37 16 57103764 57103764 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:57103764G>T uc002ekk.1 + 37 4741 c.4516G>T c.(4516-4518)GTG>TTG p.V1506L NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.V48L|NLRC5_uc002ekr.1_Missense_Mutation_p.V393L NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1506 LRR 16. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CTCCAGCTGTGTGAGCACCGA 0.637 NaN 1 0 0.000274275 0.004482 0.00028107 5 20 FAM65A 79567 broad.mit.edu 37 16 67576933 67576933 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:67576933G>T uc010vjp.1 + 13 2400 c.2304G>T c.(2302-2304)ACG>ACT p.T768T FAM65A_uc010cei.1_Silent_p.T590T|FAM65A_uc002eth.2_Silent_p.T748T|FAM65A_uc010cej.2_Silent_p.T751T|FAM65A_uc002eti.1_Silent_p.T711T|FAM65A_uc010vjq.1_Silent_p.T762T|FAM65A_uc002etj.1_Silent_p.T747T|FAM65A_uc002etk.2_Silent_p.T747T NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 752 Pro-rich. cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CAGAGTCTACGGTTCAGAGTC 0.622 NaN 1 0 3.4597e-24 0.01441 3.95519e-24 48 187 SRR 63826 broad.mit.edu 37 17 2221250 2221250 + Silent SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:2221250A>C uc002fue.1 + 3 323 c.255A>C c.(253-255)GGA>GGC p.G85G SRR_uc002fui.1_5'UTR|SRR_uc002fuh.1_Silent_p.G85G NM_021947 NP_068766 Q9GZT4 SRR_HUMAN serine racemase 85 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity 0 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACAGCAGTGGAAACCATGGCC 0.468 NaN 0 0 0 0.014323 0 22 104 PSMB6 5694 broad.mit.edu 37 17 4700748 4700748 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:4700748T>A uc002fzb.2 + 3 219 c.186T>A c.(184-186)AAT>AAA p.N62K NM_002798 NP_002789 P28072 PSB6_HUMAN proteasome beta 6 subunit precursor 62 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 ACATCGCCAATCGAGTGACTG 0.552 NaN 0 0 0 0.009535 0 25 130 NCOR1 9611 broad.mit.edu 37 17 15952254 15952254 + Nonsense_Mutation SNP G G C rs144480346 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:15952254G>C uc002gpo.2 - 41 6681 c.6441C>G c.(6439-6441)TAC>TAG p.Y2147* NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2147 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGATGGGCTCGTAGGGCTCCG 0.522 NaN 0 0 0 0.014323 0 18 102 MAPK7 5598 broad.mit.edu 37 17 19284405 19284405 + Silent SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:19284405C>A uc002gvn.2 + 4 1269 c.883C>A c.(883-885)CGG>AGG p.R295R B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R156R|MAPK7_uc002gvq.2_Silent_p.R295R|MAPK7_uc002gvp.2_Silent_p.R295R NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 295 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TGAGAGGGTGCGGGCCTATAT 0.607 NaN 1 0 4.68919e-08 0.008291 4.99668e-08 8 68 SLFN12L 342615 broad.mit.edu 37 17 33806548 33806548 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:33806548G>C uc002hjn.2 - 3 1647 c.768C>G c.(766-768)TTC>TTG p.F256L NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 TTTCAGTCGAGAAGTTTTTTA 0.343 NaN 0 0 0 0.001168 0 5 65 RAPGEFL1 51195 broad.mit.edu 37 17 38346912 38346912 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:38346912C>T uc010cwu.1 + 8 1105 c.615C>T c.(613-615)ATC>ATT p.I205I RAPGEFL1_uc010wfd.1_Silent_p.I141I NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 411 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CCGAGGAGATCCAGGTCTCCC 0.637 NaN 0 0 0 0.009718 0 40 146 ITGA2B 3674 broad.mit.edu 37 17 42462686 42462686 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:42462686A>T uc002igt.1 - 5 624 c.592T>A c.(592-594)TGT>AGT p.C198S NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 198 FG-GAP 3.|Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCCGCTTCACAGTAACGCTTG 0.682 NaN 0 0 0 0.009096 0 3 27 OSBPL7 114881 broad.mit.edu 37 17 45891068 45891068 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:45891068G>A uc002ilx.1 - 15 1687 c.1484C>T c.(1483-1485)TCA>TTA p.S495L OSBPL7_uc002ilw.1_Missense_Mutation_p.S57L NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 495 lipid transport lipid binding 0 CACAGGCATTGACACCTTGGA 0.662 NaN 0 0 0 0.00308 0 7 83 SLC35B1 10237 broad.mit.edu 37 17 47784399 47784399 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:47784399G>T uc002iph.1 - 2 223 c.136C>A c.(136-138)CAG>AAG p.Q46K SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.Q46K NM_005827 NP_005818 P78383 S35B1_HUMAN solute carrier family 35, member B1 46 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity 0 AACGTCTCCTGCTTGGCTCCT 0.403 NaN 1 0 2.85442e-18 0.010818 3.21475e-18 25 183 ABCC3 8714 broad.mit.edu 37 17 48752728 48752728 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:48752728G>A uc002isl.2 + 20 2685 c.2605G>A c.(2605-2607)GAA>AAA p.E869K NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 869 Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGCAGCGTTGGAAGGTGCAGA 0.522 NaN 0 0 0 0.000602 0 5 84 EFCAB3 146779 broad.mit.edu 37 17 60470976 60470976 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:60470976C>G uc002izu.1 + 5 416 c.338C>G c.(337-339)ACA>AGA p.T113R EFCAB3_uc010wpc.1_Missense_Mutation_p.T165R NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 113 EF-hand 2. calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AAGGTTCTAACAGATAAGAAT 0.408 NaN 0 0 0 0.004656 0 20 83 DCAF7 10238 broad.mit.edu 37 17 61662585 61662585 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:61662585G>C uc002jbc.2 + 7 968 c.751G>C c.(751-753)GAT>CAT p.D251H DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.D51H NM_005828 NP_005819 P61962 DCAF7_HUMAN WD-repeat protein 251 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding ovary(1) 1 GGTGATTCTAGATGTCCGGGT 0.443 NaN 0 0 0 0.006214 0 7 139 CD79B 974 broad.mit.edu 37 17 62007656 62007656 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:62007656C>T uc002jdq.1 - 3 291 c.208G>A c.(208-210)GCC>ACC p.A70T CD79B_uc002jdo.1_Missense_Mutation_p.A44T|CD79B_uc002jdp.1_Missense_Mutation_p.A71T|CD79B_uc002jdr.1_Intron NM_000626 NP_000617 P40259 CD79B_HUMAN CD79B antigen isoform 1 precursor 70 Extracellular (Potential).|Ig-like V-type. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity 0 TTGCCGGAGGCGCTGTTCATG 0.572 NaN Mis|O DLBCL 0 0 0 0.000602 0 5 58 PRKCA 5578 broad.mit.edu 37 17 64637500 64637500 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:64637500A>T uc002jfp.1 + 4 360 c.316A>T c.(316-318)ATC>TTC p.I106F PRKCA_uc002jfo.1_5'UTR NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 106 Phorbol-ester/DAG-type 2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CAAGTTCAAAATCCACACTTA 0.458 NaN 0 0 0 0.01441 0 49 216 FDXR 2232 broad.mit.edu 37 17 72860379 72860379 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:72860379G>A uc002jly.2 - 9 980 c.893C>T c.(892-894)TCG>TTG p.S298L FDXR_uc010wri.1_Missense_Mutation_p.S246L|FDXR_uc010wrj.1_Missense_Mutation_p.S296L|FDXR_uc002jlw.2_Missense_Mutation_p.S55L|FDXR_uc002jlx.2_Missense_Mutation_p.S304L|FDXR_uc002jmc.2_Missense_Mutation_p.S270L|FDXR_uc010wrk.1_Missense_Mutation_p.S329L|FDXR_uc010wrl.1_Missense_Mutation_p.S341L|FDXR_uc002jma.2_Missense_Mutation_p.S299L|FDXR_uc010wrm.1_Missense_Mutation_p.S258L|FDXR_uc002jlz.2_Missense_Mutation_p.S290L|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 298 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) ACGGGAGGCCGATGCCTGGCG 0.692 NaN 0 0 0 0.008291 0 10 46 GGA3 23163 broad.mit.edu 37 17 73239236 73239236 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:73239236A>T uc002jni.1 - 6 445 c.436T>A c.(436-438)TCT>ACT p.S146T GGA3_uc002jnj.1_Missense_Mutation_p.S113T|GGA3_uc010wrw.1_Missense_Mutation_p.S24T|GGA3_uc002jnk.1_Missense_Mutation_p.S74T|GGA3_uc010wrx.1_Missense_Mutation_p.S24T|GGA3_uc010wry.1_Missense_Mutation_p.S74T|GGA3_uc010wrz.1_Intron NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 146 VHS.|Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGTGGGTCAGACTGCACTATG 0.542 NaN 0 0 0 0.012319 0 19 151 SRP68 6730 broad.mit.edu 37 17 74066468 74066468 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:74066468T>C uc002jqk.1 - 2 277 c.242A>G c.(241-243)CAG>CGG p.Q81R SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Missense_Mutation_p.Q81R NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 81 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 CCTGTACCTCTGAAAATCTCC 0.373 NaN 0 0 0 0.003163 0 11 67 MYOM1 8736 broad.mit.edu 37 18 3187533 3187533 + Nonsense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:3187533C>A uc002klp.2 - 5 1208 c.874G>T c.(874-876)GAG>TAG p.E292* MYOM1_uc002klq.2_Nonsense_Mutation_p.E292* NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 292 Ig-like C2-type 1. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TTTACATTCTCCTTCTCCCAA 0.433 NaN 1 0 3.86212e-05 0.008291 3.99378e-05 8 164 LAMA1 284217 broad.mit.edu 37 18 7044769 7044769 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:7044769G>A uc002knm.2 - 7 1022 c.928C>T c.(928-930)CAG>TAG p.Q310* LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 310 Laminin EGF-like 1. 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) CAGGGCTGCTGATGGTACCCA 0.478 NaN 0 0 0 0.010818 0 28 176 TUBB6 84617 broad.mit.edu 37 18 12326037 12326037 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:12326037G>A uc002kqw.2 + 4 1294 c.1249G>A c.(1249-1251)GAC>AAC p.D417N TUBB6_uc002kqv.2_Missense_Mutation_p.D345N|TUBB6_uc002kqx.2_Missense_Mutation_p.D380N|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 417 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) CAACATGAACGACCTGGTATC 0.557 NaN 0 0 0 0.006214 0 9 201 MIB1 57534 broad.mit.edu 37 18 19321721 19321721 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:19321721C>T uc002ktq.2 + 1 177 c.177C>T c.(175-177)AAC>AAT p.N59N MIB1_uc002ktp.2_Intron NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 59 MIB/HERC2 1. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CAGCTGCCAACTACCGCTGCT 0.721 NaN 0 0 0 0.001168 0 6 35 DSC3 1825 broad.mit.edu 37 18 28581659 28581659 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:28581659C>G uc002kwj.3 - 14 2315 c.2160G>C c.(2158-2160)GGG>GGC p.G720G DSC3_uc002kwi.3_Silent_p.G720G NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 720 Cytoplasmic (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) GAAAACGTTTCCCTTTAGTTG 0.284 NaN 0 0 0 0.00278 0 17 115 DSG3 1830 broad.mit.edu 37 18 29049227 29049227 + Silent SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:29049227T>G uc002kws.2 + 12 1921 c.1812T>G c.(1810-1812)CCT>CCG p.P604P NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 604 Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCACAAGCCCTGGGACCAGGT 0.592 NaN 0 0 0 0.006214 0 7 91 ATP8B1 5205 broad.mit.edu 37 18 55319836 55319836 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:55319836G>C uc002lgw.2 - 24 3141 c.3141C>G c.(3139-3141)CTC>CTG p.L1047L uc002lgu.1_Intron|uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 1047 Helical; (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GTATGAAGAAGAGGATCATCG 0.463 NaN Byler_disease 0 0 0 0.001984 0 5 89 VPS4B 9525 broad.mit.edu 37 18 61067362 61067362 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:61067362C>G uc002lix.2 - 7 969 c.709G>C c.(709-711)GAT>CAT p.D237H VPS4B_uc010dpx.2_Missense_Mutation_p.D237H|VPS4B_uc010dpy.2_Missense_Mutation_p.D119H|VPS4B_uc010dpz.1_Missense_Mutation_p.D119H NM_004869 NP_004860 O75351 VPS4B_HUMAN vacuolar protein sorting factor 4B 237 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding ovary(1) 1 CAGAGAGAATCAATTTCATCA 0.343 NaN 0 0 0 0.006122 0 16 118 PQLC1 80148 broad.mit.edu 37 18 77664069 77664069 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr18:77664069G>A uc002lnl.2 - 6 895 c.723C>T c.(721-723)GAC>GAT p.D241D PQLC1_uc010dre.2_Silent_p.D158D|PQLC1_uc002lnk.2_Silent_p.D223D|PQLC1_uc010xfm.1_3'UTR NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 241 Helical; (Potential). integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) GGATGGCCAGGTCCACCAGCA 0.682 NaN 0 0 0 0.001984 0 6 34 PPAP2C 8612 broad.mit.edu 37 19 281413 281413 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:281413T>C uc002loi.2 - 6 941 c.842A>G c.(841-843)TAT>TGT p.Y281C PPAP2C_uc002loh.2_Missense_Mutation_p.Y302C|PPAP2C_uc002loj.2_Missense_Mutation_p.Y225C NM_003712 NP_003703 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C isoform 1 281 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGTATCCATAGTGGTTGTG 0.657 NaN 0 0 0 0.001168 0 5 32 CNN2 1265 broad.mit.edu 37 19 1032581 1032581 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:1032581C>G uc002lqu.2 + 4 639 c.276C>G c.(274-276)ATC>ATG p.I92M CNN2_uc002lqt.1_Missense_Mutation_p.I92M|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.I92M|CNN2_uc010xgb.1_Missense_Mutation_p.I92M|CNN2_uc010xgc.1_Missense_Mutation_p.I92M NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 92 CH. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CCAACTTCATCAAGGCCATGG 0.507 NaN 0 0 0 0.001855 0 9 102 ABCA7 10347 broad.mit.edu 37 19 1058041 1058041 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:1058041G>C uc002lqw.3 + 36 5239 c.5008G>C c.(5008-5010)GAG>CAG p.E1670Q ABCA7_uc002lqy.2_Missense_Mutation_p.E123Q|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1670 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CTTTGTGCTTGAGCTCTTCTC 0.572 NaN 0 0 0 0.006214 0 8 93 FAM108A1 81926 broad.mit.edu 37 19 1881473 1881473 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:1881473C>T uc002lug.2 - 2 499 c.93G>A c.(91-93)CCG>CCA p.P31P FAM108A1_uc002lud.2_Silent_p.P31P|FAM108A1_uc002lue.2_Silent_p.P31P|FAM108A1_uc002luf.2_Silent_p.P31P NM_001130111 NP_001123583 Q96GS6 F18A1_HUMAN hypothetical protein LOC81926 isoform 2 31 extracellular region hydrolase activity 0 Ovarian(11;0.000137) 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) AGGTGGCCTCCGGCGGCAGGA 0.711 NaN 0 0 0 0.000602 0 4 66 THOP1 7064 broad.mit.edu 37 19 2810332 2810332 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:2810332G>A uc002lwj.2 + 10 1641 c.1486G>A c.(1486-1488)GTG>ATG p.V496M THOP1_uc010xgz.1_Missense_Mutation_p.V375M|THOP1_uc002lwk.2_Missense_Mutation_p.V7M NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 496 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 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) CGGGACCCACGTGGAGCGGGA 0.692 NaN 0 0 0 0.000602 0 4 55 CLEC4G 339390 broad.mit.edu 37 19 7794268 7794268 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:7794268T>A uc002mhp.3 - 9 935 c.866A>T c.(865-867)AAA>ATA p.K289I NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 289 Extracellular (Potential). integral to membrane protein binding|sugar binding 0 GTTGTGCCTTTTCTCACAGAT 0.622 NaN 0 0 0 0.006214 0 7 46 DOCK6 57572 broad.mit.edu 37 19 11313325 11313325 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:11313325C>T uc002mqs.3 - 42 5337 c.5296G>A c.(5296-5298)GAG>AAG p.E1766K DOCK6_uc002mqr.3_Missense_Mutation_p.E166K|DOCK6_uc010xlq.1_Missense_Mutation_p.E1105K NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1766 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 AACTCCTGCTCATCCAGGTCA 0.622 NaN 0 0 0 0.013537 0 12 220 JAK3 3718 broad.mit.edu 37 19 17942037 17942037 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:17942037C>G uc002nhn.3 - 21 3078 c.2978G>C c.(2977-2979)TGG>TCG p.W993S JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.W993S NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 993 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GGTTCCCCACCAGAAAATGGG 0.368 2 Mis acute megakaryocytic leukemia| 0 0 0 0.00245 0 10 74 COMP 1311 broad.mit.edu 37 19 18898425 18898425 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:18898425C>T uc002nke.2 - 10 1046 c.1010G>A c.(1009-1011)CGC>CAC p.R337H COMP_uc002nkd.2_Missense_Mutation_p.R304H|COMP_uc010xqj.1_Missense_Mutation_p.R284H NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 337 TSP type-3 3. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 GTCCGTGTTGCGCTGGTCTGG 0.612 NaN 0 0 0 0.012319 0 21 160 ZNF430 80264 broad.mit.edu 37 19 21239443 21239443 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:21239443A>G uc002npj.2 + 5 439 c.329A>G c.(328-330)TAT>TGT p.Y110C ZNF430_uc002npk.2_Missense_Mutation_p.Y109C NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 TCAGTTACATATTCTCATTTT 0.308 NaN 0 0 0 0.004482 0 7 63 ZNF492 57615 broad.mit.edu 37 19 22836772 22836772 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:22836772G>C uc002nqw.3 + 3 329 c.85G>C c.(85-87)GAA>CAA p.E29Q NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GCAAGGAAAAGAACCTTGGAA 0.423 NaN 0 0 0 0.008291 0 7 160 MLL4 9757 broad.mit.edu 37 19 36214059 36214059 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:36214059G>A uc010eei.2 + 6 2885 c.2885G>A c.(2884-2886)CGC>CAC p.R962H NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 962 CXXC-type. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGAAGATGCGCATGGCTCGA 0.637 NaN 0 0 0 0.008291 0 7 69 ZNF383 163087 broad.mit.edu 37 19 37733704 37733704 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:37733704A>C uc002oft.1 + 8 1146 c.566A>C c.(565-567)CAG>CCG p.Q189P ZNF383_uc002ofs.1_Missense_Mutation_p.Q124P|ZNF383_uc002ofu.1_Missense_Mutation_p.Q189P NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 189 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.Q189*(1) ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCAACATCAGAGAATTCAT 0.338 NaN 0 0 0 0.009096 0 4 49 CATSPERG 57828 broad.mit.edu 37 19 38861352 38861352 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:38861352A>T uc002oih.3 + 29 3487 c.3400A>T c.(3400-3402)ATG>TTG p.M1134L CATSPERG_uc002oig.3_Missense_Mutation_p.M1094L|CATSPERG_uc002oif.3_Missense_Mutation_p.M774L|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 1134 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 ACATTCCAGGATGGGCTCCAT 0.552 NaN 0 0 0 0.006122 0 15 124 FAM98C 147965 broad.mit.edu 37 19 38896259 38896259 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:38896259G>A uc002oin.1 + 6 753 c.734G>A c.(733-735)TGG>TAG p.W245* FAM98C_uc002oio.1_Nonsense_Mutation_p.W219*|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 245 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCTTTCCACTGGAGTGACCGG 0.612 NaN 0 0 0 0.001984 0 6 71 PLD3 23646 broad.mit.edu 37 19 40872687 40872687 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:40872687G>A uc002onm.3 + 5 508 c.110G>A c.(109-111)CGC>CAC p.R37H PLD3_uc002onj.3_Missense_Mutation_p.R37H|PLD3_uc002onk.3_Missense_Mutation_p.R37H|PLD3_uc002onl.3_Missense_Mutation_p.R37H|PLD3_uc002onn.2_Missense_Mutation_p.R37H|PLD3_uc002ono.2_Silent_p.P66P NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 37 Cytoplasmic (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) CAGAAAGCCCGCTGGGTCCTG 0.627 NaN 0 0 0 0.001168 0 5 54 ERCC2 2068 broad.mit.edu 37 19 45867571 45867571 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:45867571G>T uc002pbj.2 - 9 784 c.737C>A c.(736-738)TCC>TAC p.S246Y ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.S168Y|ERCC2_uc002pbk.2_Missense_Mutation_p.S222Y|ERCC2_uc002pbl.3_Missense_Mutation_p.S222Y|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 246 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GACGCTCATGGAGTCGATGCA 0.682 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 1 0 3.09899e-07 0.004482 3.27916e-07 8 76 CCDC8 83987 broad.mit.edu 37 19 46915949 46915949 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:46915949C>A uc002pep.2 - 1 971 c.119G>T c.(118-120)CGG>CTG p.R40L NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 40 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) ctgggtcagccgctcccgaaa 0.104 NaN 1 0 5.50884e-06 0.013537 5.78873e-06 10 107 PNMAL2 57469 broad.mit.edu 37 19 46998670 46998670 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:46998670T>C uc002pes.2 - 1 500 c.53A>G c.(52-54)CAC>CGC p.H18R uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 18 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) cagggccctgtgcgcgtccac 0.154 NaN 0 0 0 0.008291 0 7 59 HRC 3270 broad.mit.edu 37 19 49657934 49657934 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:49657934C>G uc002pmv.2 - 1 748 c.561G>C c.(559-561)GGG>GGC p.G187G NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 187 4 X tandem repeats, acidic.|1-1.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CATCATCTTCCCCATCATGGC 0.463 NaN 0 0 0 0.004482 0 8 97 DNAJC27 51277 broad.mit.edu 37 2 25180826 25180826 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:25180826G>A uc002rft.1 - 4 309 c.258C>T c.(256-258)TAC>TAT p.Y86Y DNAJC27_uc010ykn.1_Silent_p.Y15Y|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.Y86Y NM_016544 NP_057628 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 86 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding skin(1) 1 GTGTGTCCTTGTAAAACTCAT 0.418 NaN 0 0 0 0.001168 0 6 56 C2orf16 84226 broad.mit.edu 37 2 27803662 27803662 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:27803662A>G uc002rkz.3 + 1 4274 c.4223A>G c.(4222-4224)GAC>GGC p.D1408G ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1408 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ATCAAAAGAGACAAGAGGTCA 0.488 NaN 0 0 0 0.005443 0 28 111 PLB1 151056 broad.mit.edu 37 2 28828806 28828806 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:28828806G>T uc002rmb.1 + 42 3048 c.3048G>T c.(3046-3048)TGG>TGT p.W1016C PLB1_uc010ezj.1_Missense_Mutation_p.W1005C|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_RNA NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 1016 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GAGCCCTTTGGACCAATATGG 0.522 NaN 1 0 6.12954e-19 0.004656 6.92044e-19 24 185 GPR75 10936 broad.mit.edu 37 2 54080838 54080838 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:54080838G>C uc002rxo.3 - 2 1327 c.1056C>G c.(1054-1056)TTC>TTG p.F352L ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 352 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGTAAAGAATGAAGCTCCCAT 0.443 NaN 0 0 0 0.010504 0 20 91 ADD2 119 broad.mit.edu 37 2 70890760 70890760 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:70890760C>T uc002sgz.2 - 16 2443 c.1978G>A c.(1978-1980)GAA>AAA p.E660K ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E354K|ADD2_uc002sgx.2_3'UTR NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 660 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 CTGAGGATTTCCTCTGCCGTC 0.577 NaN 0 0 0 0.004289 0 33 141 ALMS1 7840 broad.mit.edu 37 2 73651764 73651764 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:73651764T>A uc002sje.1 + 6 1085 c.974T>A c.(973-975)ATT>AAT p.I325N ALMS1_uc002sjf.1_Missense_Mutation_p.I282N NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 324 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 GAAGAGACTATTTCGTCTGTT 0.418 NaN 0 0 0 0.004482 0 9 43 HTRA2 27429 broad.mit.edu 37 2 74757342 74757342 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:74757342C>T uc002smi.1 + 1 811 c.209C>T c.(208-210)GCA>GTA p.A70V AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.A70V|HTRA2_uc002smk.1_Missense_Mutation_p.A70V|HTRA2_uc002sml.1_Missense_Mutation_p.A70V|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 70 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GAACCCCGAGCATGCCTGACG 0.657 NaN 0 0 0 0.009096 0 4 14 LRRTM4 80059 broad.mit.edu 37 2 77746503 77746503 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:77746503C>G uc002snr.2 - 3 907 c.492G>C c.(490-492)TTG>TTC p.L164F LRRTM4_uc002snq.2_Missense_Mutation_p.L164F|LRRTM4_uc002sns.2_Missense_Mutation_p.L164F|LRRTM4_uc002snt.2_Missense_Mutation_p.L165F NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 164 LRR 5.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AGTTAGATCTCAAGTGCAAAA 0.413 NaN 0 0 0 0.006214 0 8 80 ZNF2 7549 broad.mit.edu 37 2 95847683 95847683 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:95847683T>C uc002suf.2 + 6 1569 c.1107T>C c.(1105-1107)TAT>TAC p.Y369Y ZNF2_uc002sug.2_Silent_p.Y327Y|ZNF2_uc010yue.1_Silent_p.Y332Y|ZNF2_uc010fhs.2_Silent_p.Y290Y NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 369 C2H2-type 8. Y -> H (in Ref. 2; AAH05068). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) ACAAGCCATATGAATGCAGCG 0.552 NaN 0 0 0 0.011902 0 31 169 CNNM4 26504 broad.mit.edu 37 2 97427544 97427544 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:97427544A>T uc002swx.2 + 1 906 c.808A>T c.(808-810)ATG>TTG p.M270L NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 270 Helical; (Potential).|DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 GTCCGGCCTCATGGCGGTGGC 0.592 NaN 0 0 0 0.00245 0 12 176 AFF3 3899 broad.mit.edu 37 2 100170804 100170804 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:100170804C>G uc002tag.2 - 23 3764 c.3528G>C c.(3526-3528)GAG>GAC p.E1176D AFF3_uc002taf.2_Missense_Mutation_p.E1201D NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1176 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TGTCGGCCATCTCCCAGTAGT 0.507 NaN 0 0 0 0.008291 0 10 190 IL1B 3553 broad.mit.edu 37 2 113590327 113590327 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:113590327G>C uc002tii.1 - 5 465 c.378C>G c.(376-378)CTC>CTG p.L126L IL1B_uc002tih.1_Silent_p.L95L NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 126 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GTGAGTCCCGGAGCGTGCAGT 0.478 NaN 0 0 0 0.008871 0 14 157 NCKAP5 344148 broad.mit.edu 37 2 133887605 133887606 + Missense_Mutation DNP GG GG TT TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:133887605_133887606GG>TT uc002ttp.2 - 6 659_660 c.285_286CC>AA c.(283-288)ACCCTA>ACAATA p.L96I NCKAP5_uc002ttq.2_Missense_Mutation_p.L96I|NCKAP5_uc002ttt.1_Missense_Mutation_p.L96I|NCKAP5_uc002tts.1_Missense_Mutation_p.L71I NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 96 Potential. protein binding 0 TCAGACTCTAGGGTCACCTCCT 0.48 NaN 0 0 0 0.004672 0 5 28 NEB 4703 broad.mit.edu 37 2 152536298 152536298 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:152536298A>G uc010fnx.2 - 32 3383 c.3192T>C c.(3190-3192)TAT>TAC p.Y1064Y NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1064 Nebulin 26. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCTCAGGTCATATCCCTTCT 0.443 NaN 0 0 0 0.001855 0 10 117 TBR1 10716 broad.mit.edu 37 2 162273127 162273127 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:162273127C>T uc002ubw.1 + 1 508 c.206C>T c.(205-207)CCT>CTT p.P69L TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 69 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GACAATTTTCCTGACTCCAAG 0.488 NaN 0 0 0 0.013537 0 11 72 DHRS9 10170 broad.mit.edu 37 2 169948457 169948457 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:169948457G>A uc002uep.2 + 7 2234 c.730G>A c.(730-732)GAA>AAA p.E244K DHRS9_uc002ueq.2_Missense_Mutation_p.E244K|DHRS9_uc010zdc.1_Missense_Mutation_p.E304K|DHRS9_uc010zdd.1_Missense_Mutation_p.E244K|DHRS9_uc010zde.1_Missense_Mutation_p.E244K NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 244 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 AGGTTACATTGAAAAAAGTGA 0.403 NaN 0 0 0 0.009096 0 4 43 MTX2 10651 broad.mit.edu 37 2 177161616 177161616 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:177161616A>G uc002ukx.2 + 2 304 c.69A>G c.(67-69)ACA>ACG p.T23T MTX2_uc002ukw.2_Silent_p.T13T NM_006554 NP_006545 O75431 MTX2_HUMAN metaxin 2 23 protein targeting to mitochondrion mitochondrial outer membrane ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) AAAATGCTACATTATATCAGC 0.313 NaN 0 0 0 0.003954 0 21 150 TTN 7273 broad.mit.edu 37 2 179635334 179635334 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:179635334C>G uc010zfg.1 - 35 8409 c.8185G>C c.(8185-8187)GAG>CAG p.E2729Q TTN_uc010zfh.1_Missense_Mutation_p.E2683Q|TTN_uc010zfi.1_Missense_Mutation_p.E2683Q|TTN_uc010zfj.1_Missense_Mutation_p.E2683Q|TTN_uc002unb.2_Missense_Mutation_p.E2729Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2729 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) TGTGTAAGCTCGACAGTGAAA 0.378 NaN 0 0 0 0.007413 0 16 136 SLC39A10 57181 broad.mit.edu 37 2 196581361 196581361 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:196581361G>C uc002utg.3 + 7 1911 c.1697G>C c.(1696-1698)GGA>GCA p.G566A SLC39A10_uc002uth.3_Missense_Mutation_p.G566A|SLC39A10_uc010zgp.1_Missense_Mutation_p.G116A NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 566 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) ATAAATACAGGAACTGATGAC 0.323 NaN 0 0 0 0.013537 0 11 82 FN1 2335 broad.mit.edu 37 2 216245603 216245603 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:216245603A>G uc002vfa.2 - 33 5631 c.5365T>C c.(5365-5367)TAC>CAC p.Y1789H FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.Y1789H|FN1_uc002vfe.2_Missense_Mutation_p.Y1698H|FN1_uc002vff.2_Missense_Mutation_p.Y1698H|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.Y1789H|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Missense_Mutation_p.Y151H|FN1_uc010fvd.1_Intron NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1788 Heparin-binding 2.|Fibronectin type-III 13. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGACTGTGTACTCAGAACCC 0.542 NaN 0 0 0 0.010504 0 22 127 ARPC2 10109 broad.mit.edu 37 2 219110212 219110212 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:219110212C>G uc002vhd.2 + 8 731 c.619C>G c.(619-621)CTG>GTG p.L207V ARPC2_uc002vhe.2_Missense_Mutation_p.L207V|ARPC2_uc002vhf.2_Missense_Mutation_p.L93V NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 207 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) GGAACCTCCTCTGGAGCTGAA 0.527 NaN 0 0 0 0.010729 0 11 99 WNT10A 80326 broad.mit.edu 37 2 219746934 219746934 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:219746934C>T uc002vjd.1 + 2 628 c.165C>T c.(163-165)CTC>CTT p.L55L NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 55 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCCGTGCTCAATGCCAACA 0.617 NaN 0 0 0 0.00278 0 19 67 COL4A3 1285 broad.mit.edu 37 2 228172496 228172496 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:228172496G>A uc002vom.1 + 48 4485 c.4323G>A c.(4321-4323)TGG>TGA p.W1441* COL4A3_uc002von.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002voo.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1441 Epitope recognized by Goodpasture antibodies. 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) CTGCAACCTGGACAACGAGAG 0.468 NaN 0 0 0 0.00245 0 13 88 ALPI 248 broad.mit.edu 37 2 233321093 233321093 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:233321093G>A uc002vst.3 + 2 179 c.102G>A c.(100-102)CAG>CAA p.Q34Q ALPI_uc002vsu.3_5'UTR NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 34 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGAACCGCCAGGCAGCTGAGG 0.627 NaN 0 0 0 0.007413 0 17 79 MTERFD2 130916 broad.mit.edu 37 2 242035577 242035577 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:242035577C>G uc002wan.1 - 3 1562 c.1069G>C c.(1069-1071)GAG>CAG p.E357Q MTERFD2_uc010zoj.1_Missense_Mutation_p.E140Q NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 328 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) GTGCTGCTCTCAGACTCCTCC 0.333 NaN 0 0 0 0.008291 0 6 55 ING5 84289 broad.mit.edu 37 2 242662468 242662468 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr2:242662468G>A uc002wcd.2 + 6 622 c.597G>A c.(595-597)ATG>ATA p.M199I NM_032329 NP_115705 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 199 PHD-type. DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion 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;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) ATGGGGAGATGATTGGCTGTG 0.602 NaN 0 0 0 0.000602 0 5 82 ZNF343 79175 broad.mit.edu 37 20 2463828 2463828 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:2463828G>A uc002wge.1 - 6 2267 c.1779C>T c.(1777-1779)ATC>ATT p.I593I ZNF343_uc010gao.1_Silent_p.I593I|ZNF343_uc002wgd.1_Silent_p.I503I NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 593 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCTGGTGTCTGATGAGATTTG 0.507 NaN 0 0 0 0.010729 0 9 75 BPIL3 128859 broad.mit.edu 37 20 31624294 31624294 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:31624294G>C uc010zuc.1 + 7 621 c.621G>C c.(619-621)CTG>CTC p.L207L BPIL3_uc010zud.1_Silent_p.L146L NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN bactericidal/permeability-increasing 207 extracellular region lipid binding ovary(1)|pancreas(1) 2 AATATGTTCTGATGTCCGCAC 0.587 NaN 0 0 0 0.009535 0 24 319 TRPC4AP 26133 broad.mit.edu 37 20 33593524 33593524 + Missense_Mutation SNP C C T rs143166417 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:33593524C>T uc002xbk.2 - 16 1944 c.1910G>A c.(1909-1911)CGA>CAA p.R637Q TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R228Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R629Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R598Q NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 637 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTTTTCAAATCGGTCCAGGGA 0.507 NaN 0 0 0 0.006122 0 13 108 PHF20 51230 broad.mit.edu 37 20 34457364 34457364 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:34457364G>T uc002xek.1 + 7 924 c.813G>T c.(811-813)GTG>GTT p.V271V PHF20_uc002xei.1_Silent_p.V271V|PHF20_uc010gfo.1_Silent_p.V271V|PHF20_uc002xej.1_Silent_p.V155V|PHF20_uc002xel.1_Silent_p.V133V NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) TGGTAGCTGTGGATTCAAACT 0.294 NaN 1 0 3.27435e-08 0.00245 3.49725e-08 14 68 CHD6 84181 broad.mit.edu 37 20 40033522 40033522 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:40033522C>A uc002xka.1 - 37 8037 c.7859G>T c.(7858-7860)GGA>GTA p.G2620V CHD6_uc002xjz.1_Missense_Mutation_p.G157V NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2620 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GTAAATGAGTCCAGGAGATAC 0.512 NaN 1 0 0.00010058 0.013537 0.000103538 13 56 CHD6 84181 broad.mit.edu 37 20 40118569 40118569 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:40118569C>A uc002xka.1 - 12 1707 c.1529G>T c.(1528-1530)GGC>GTC p.G510V CHD6_uc002xkd.2_Missense_Mutation_p.G488V NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 510 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GAGAAAAGGGCCGTGGATTCC 0.493 NaN 1 0 4.59853e-10 0.005443 5.00558e-10 27 119 PCK1 5105 broad.mit.edu 37 20 56136669 56136669 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:56136669C>T uc002xyn.3 + 2 365 c.202C>T c.(202-204)CGG>TGG p.R68W PCK1_uc010zzm.1_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 68 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CATCCTCAGGCGGCTGAAGAA 0.617 NaN 0 0 0 0.001855 0 12 110 LAMA5 3911 broad.mit.edu 37 20 60904247 60904247 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr20:60904247C>T uc002ycq.2 - 33 4249 c.4182G>A c.(4180-4182)CTG>CTA p.L1394L NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1394 Domain IV 1 (domain IV B). 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) AGGATTTATCCAGGGGCTCCT 0.637 NaN 0 0 0 0.014323 0 21 120 ADAMTS5 11096 broad.mit.edu 37 21 28296403 28296403 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:28296403G>A uc002ymg.2 - 8 3491 c.2762C>T c.(2761-2763)GCG>GTG p.A921V NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 921 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TTGCTTAAACGCAGAAGGCCT 0.483 NaN 0 0 0 0.010729 0 10 68 RNF160 26046 broad.mit.edu 37 21 30331900 30331900 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:30331900C>A uc002ymr.2 - 13 2624 c.2611G>T c.(2611-2613)GAT>TAT p.D871Y NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 825 ligase activity|zinc ion binding 0 TAGGCCACATCACAGATAAAA 0.343 NaN 1 0 3.62473e-10 0.012319 3.95504e-10 18 102 KRTAP13-2 337959 broad.mit.edu 37 21 31744204 31744204 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:31744204G>T uc002ynz.3 - 1 354 c.328C>A c.(328-330)CTG>ATG p.L110M NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 110 intermediate filament 0 CCATAGCCCAGGGAGCGGCAG 0.597 NaN 1 0 1.12685e-05 0.004482 1.17866e-05 7 60 BRWD1 54014 broad.mit.edu 37 21 40650683 40650683 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr21:40650683G>A uc002yxk.1 - 10 1128 c.989C>T c.(988-990)TCT>TTT p.S330F BRWD1_uc002yxl.2_Missense_Mutation_p.S330F|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.S50F NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 330 WD 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ACTAAAAGAAGAACAAAGCAT 0.328 NaN 0 0 0 0.004482 0 6 110 DGCR8 54487 broad.mit.edu 37 22 20074169 20074169 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:20074169A>G uc002zri.2 + 2 1033 c.683A>G c.(682-684)GAC>GGC p.D228G DGCR8_uc010grz.2_Missense_Mutation_p.D228G|DGCR8_uc002zrj.2_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 228 Necessary for nuclear localization and retention.|Necessary for interaction with NCL. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) GTTCAGAGAGACAGAGTGGAT 0.478 NaN 0 0 0 0.009718 0 39 261 TOP3B 8940 broad.mit.edu 37 22 22314027 22314027 + Missense_Mutation SNP C C T rs138357708 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:22314027C>T uc002zvs.2 - 15 2171 c.1736G>A c.(1735-1737)CGC>CAC p.R579H TOP3B_uc010gtm.1_Missense_Mutation_p.R124H|TOP3B_uc002zvr.2_Missense_Mutation_p.R304H|TOP3B_uc010gtl.2_Missense_Mutation_p.R579H|TOP3B_uc002zvt.3_Missense_Mutation_p.R579H NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 579 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CAGGACCTGGCGGTAGTCGGC 0.622 NaN 0 0 0 0.010504 0 20 211 GNAZ 2781 broad.mit.edu 37 22 23438386 23438386 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:23438386T>C uc002zwu.1 + 2 1041 c.504T>C c.(502-504)TAT>TAC p.Y168Y RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 168 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CAGCTGACTATATCCCCACTG 0.607 NaN 0 0 0 0.010729 0 11 90 RAB36 9609 broad.mit.edu 37 22 23500179 23500179 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:23500179T>A uc002zwv.1 + 7 633 c.593T>A c.(592-594)GTG>GAG p.V198E RAB36_uc010gtw.1_Missense_Mutation_p.V176E NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 198 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) GGGTGTCTAGTGATCATCACG 0.622 NaN 0 0 0 0.004289 0 28 249 EMID1 129080 broad.mit.edu 37 22 29622494 29622494 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:29622494G>A uc003aen.2 + 5 488 c.413G>A c.(412-414)AGC>AAC p.S138N EMID1_uc003aem.2_Missense_Mutation_p.S140N|EMID1_uc003aeo.2_Missense_Mutation_p.S140N|EMID1_uc003aep.2_Missense_Mutation_p.S140N NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 138 collagen 0 CTCAACTGCAGCAAAGTGTCA 0.632 NaN 0 0 0 0.006122 0 15 55 EP300 2033 broad.mit.edu 37 22 41553402 41553402 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:41553402G>A uc003azl.3 + 18 3886 c.3491G>A c.(3490-3492)TGT>TAT p.C1164Y NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1164 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GGATACTGTTGTGGCAGAAAG 0.393 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.004878 0 30 121 ACO2 50 broad.mit.edu 37 22 41918881 41918881 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:41918881T>A uc003bac.2 + 10 1208 c.1186T>A c.(1186-1188)TCA>ACA p.S396T ACO2_uc003bad.2_Missense_Mutation_p.S421T NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 396 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 TATGGGGCGCTCAGCAGCTGT 0.572 NaN 0 0 0 0.008871 0 19 78 TTLL1 25809 broad.mit.edu 37 22 43459894 43459894 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:43459894C>T uc003bdi.2 - 7 913 c.672G>A c.(670-672)GTG>GTA p.V224V TTLL1_uc010gzh.2_Silent_p.V224V|TTLL1_uc003bdj.2_Silent_p.V110V|TTLL1_uc003bdh.2_Silent_p.V186V NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 224 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) GGGTGTATTTCACTGTGCAGA 0.458 NaN 0 0 0 0.004482 0 6 159 SMC1B 27127 broad.mit.edu 37 22 45802460 45802460 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:45802460C>T uc003bgc.2 - 4 548 c.496G>A c.(496-498)GGA>AGA p.G166R SMC1B_uc003bgd.2_Missense_Mutation_p.G166R|SMC1B_uc003bge.1_5'UTR NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 166 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCATATTCTCCTATAAGCTCT 0.363 NaN 0 0 0 0.000602 0 5 57 CHL1 10752 broad.mit.edu 37 3 403383 403383 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:403383T>A uc003bou.2 + 12 1531 c.1260T>A c.(1258-1260)GAT>GAA p.D420E CHL1_uc003bot.2_Missense_Mutation_p.D436E|CHL1_uc003bow.1_Missense_Mutation_p.D420E|CHL1_uc011asi.1_Missense_Mutation_p.D436E NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 420 Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTCAAATAGATGTCCGTCCAT 0.353 NaN 0 0 0 0.006122 0 17 161 FANCD2 2177 broad.mit.edu 37 3 10133873 10133873 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:10133873A>C uc003buw.2 + 38 3864 c.3786A>C c.(3784-3786)GAA>GAC p.E1262D FANCD2_uc003bux.1_Missense_Mutation_p.E1262D|FANCD2_uc003buy.1_Missense_Mutation_p.E1262D|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1262 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) AGATTCATGAAGAGAAACTCC 0.418 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 64 303 SGOL1 151648 broad.mit.edu 37 3 20215950 20215950 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:20215950C>G uc003cbs.2 - 6 1260 c.1073G>C c.(1072-1074)AGA>ACA p.R358T SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.R358T|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.R358T|SGOL1_uc003cca.2_Missense_Mutation_p.R358T|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 358 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 GTTTTCTTCTCTATTAGAGTC 0.398 NaN 0 0 0 0.001855 0 13 109 MYD88 4615 broad.mit.edu 37 3 38180222 38180222 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:38180222G>A uc003chx.2 + 1 254 c.70G>A c.(70-72)GCG>ACG p.A24T ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.A24T|MYD88_uc011ayi.1_Missense_Mutation_p.A24T|MYD88_uc011ayj.1_Missense_Mutation_p.A24T|MYD88_uc011ayk.1_Missense_Mutation_p.A24T|MYD88_uc011ayl.1_Missense_Mutation_p.A24T NM_002468 NP_002459 Q99836 MYD88_HUMAN myeloid differentiation primary response gene 11 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(93)|breast(1) 94 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CGCGGGGTCTGCGGCCCCGGT 0.687 NaN Mis ABC-DLBCL 0 0 0 0.006214 0 9 43 XIRP1 165904 broad.mit.edu 37 3 39229444 39229444 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:39229444G>C uc003cjk.1 - 2 1714 c.1493C>G c.(1492-1494)TCT>TGT p.S498C XIRP1_uc003cji.2_Missense_Mutation_p.S498C|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 498 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCTGCTAACAGAGGTCAGGGC 0.592 NaN 0 0 0 0.004482 0 8 167 ZNF167 55888 broad.mit.edu 37 3 44612226 44612226 + Nonsense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:44612226C>T uc010hin.2 + 6 2012 c.1624C>T c.(1624-1626)CAG>TAG p.Q542* ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q542*|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 542 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) CATTGACCATCAGAGAATCCA 0.453 NaN 0 0 0 0.006122 0 15 160 ZNF35 7584 broad.mit.edu 37 3 44700861 44700861 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:44700861T>C uc003cnq.2 + 4 1227 c.1006T>C c.(1006-1008)TGT>CGT p.C336R ZNF35_uc003cnr.2_Missense_Mutation_p.C176R NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 336 C2H2-type 5. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) ATGCTATGAATGTAATGAATG 0.428 NaN 0 0 0 0.001168 0 6 60 SCAP 22937 broad.mit.edu 37 3 47458631 47458631 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:47458631G>A uc003crh.1 - 18 3292 c.3037C>T c.(3037-3039)CTG>TTG p.L1013L SCAP_uc011baz.1_Silent_p.L757L|SCAP_uc003crg.2_Silent_p.L620L NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 1013 Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 3. cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AAGAACACCAGAGCGGTAATG 0.587 NaN 0 0 0 0.00245 0 13 60 COL7A1 1294 broad.mit.edu 37 3 48605567 48605567 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:48605567C>T uc003ctz.2 - 105 7832 c.7831G>A c.(7831-7833)GGA>AGA p.G2611R NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2611 Triple-helical 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) CCTTTTTCTCCTCGGATACCA 0.532 NaN 0 0 0 0.010504 0 16 83 CELSR3 1951 broad.mit.edu 37 3 48687965 48687965 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:48687965G>T uc003cul.2 - 16 6701 c.6420C>A c.(6418-6420)CCC>CCA p.P2140P CELSR3_uc003cuf.1_Silent_p.P2210P|CELSR3_uc010hkg.2_Silent_p.P118P NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2140 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) ACTTTGTCTGGGGCCACCACA 0.617 NaN 1 0 5.9392e-07 0.001168 6.26992e-07 5 51 DOCK3 1795 broad.mit.edu 37 3 51308411 51308411 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:51308411G>T uc011bds.1 + 24 2544 c.2521G>T c.(2521-2523)GTG>TTG p.V841L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 841 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGCCAGGACAGTGGATAGCCG 0.547 NaN 1 0 6.12954e-19 0.004656 6.92044e-19 22 196 GRM2 2912 broad.mit.edu 37 3 51750145 51750145 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:51750145G>A uc010hlv.2 + 4 2595 c.2356G>A c.(2356-2358)GAC>AAC p.D786N GRM2_uc003dbo.3_Missense_Mutation_p.D168N|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 786 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CACCTCCAGTGACTACCGGGT 0.532 NaN 0 0 0 0.009096 0 4 68 SEMA3G 56920 broad.mit.edu 37 3 52473771 52473771 + Silent SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:52473771G>C uc003dea.1 - 12 1392 c.1392C>G c.(1390-1392)CTC>CTG p.L464L NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 464 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CGATGACTTTGAGCACAGACC 0.632 NaN 0 0 0 0.00308 0 7 61 PRKCD 5580 broad.mit.edu 37 3 53217515 53217515 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:53217515T>C uc003dgl.2 + 9 1058 c.705T>C c.(703-705)GTT>GTC p.V235V PRKCD_uc003dgm.2_Silent_p.V235V|PRKCD_uc010hmt.1_Silent_p.V7V NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 235 Phorbol-ester/DAG-type 2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GCTTCAAGGTTCACAACTACA 0.592 NaN 0 0 0 0.012319 0 19 121 C3orf63 23272 broad.mit.edu 37 3 56674101 56674101 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:56674101G>A uc003did.3 - 16 2778 c.2677C>T c.(2677-2679)CCC>TCC p.P893S C3orf63_uc003dic.3_Missense_Mutation_p.P497S|C3orf63_uc003die.3_Missense_Mutation_p.P893S NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 893 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TGTTCAATGGGAACACTGGGA 0.323 NaN 0 0 0 0.001984 0 4 41 DZIP3 9666 broad.mit.edu 37 3 108355537 108355537 + Silent SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:108355537T>G uc003dxd.2 + 11 1415 c.993T>G c.(991-993)CCT>CCG p.P331P DZIP3_uc003dxf.1_Silent_p.P331P|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.P331P|DZIP3_uc003dxg.1_Silent_p.P54P NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 331 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTGATGTACCTGGAATTGTTA 0.313 NaN 0 0 0 0.003271 0 28 169 SLC9A10 285335 broad.mit.edu 37 3 111936346 111936346 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:111936346C>T uc003dyu.2 - 15 1955 c.1733G>A c.(1732-1734)AGA>AAA p.R578K SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R530K NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 578 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 TAGTAGTTTTCTAGCAAAGGT 0.303 NaN 0 0 0 0.001168 0 5 82 GSK3B 2932 broad.mit.edu 37 3 119720941 119720941 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:119720941T>C uc003edo.2 - 2 1217 c.234A>G c.(232-234)TCA>TCG p.S78S GSK3B_uc003edn.2_Silent_p.S78S NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 78 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) CCAGTTCTCCTGAATCACAAA 0.398 NaN 0 0 0 0.01441 0 42 224 SEMA5B 54437 broad.mit.edu 37 3 122667521 122667521 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:122667521C>T uc003efz.1 - 3 464 c.160G>A c.(160-162)GCA>ACA p.A54T SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A54T|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 54 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GGCCCCTCTGCAGTCCTAGCT 0.612 NaN 0 0 0 0.006214 0 6 52 SNX4 8723 broad.mit.edu 37 3 125166629 125166629 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:125166629C>T uc003eib.2 - 14 1389 c.1347G>A c.(1345-1347)AAG>AAA p.K449K SNX4_uc011bkf.1_Silent_p.K304K NM_003794 NP_003785 O95219 SNX4_HUMAN sorting nexin 4 449 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 AGGATTACATCTTGCTAAAGC 0.313 NaN 0 0 0 0.014323 0 17 118 A4GNT 51146 broad.mit.edu 37 3 137843160 137843160 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:137843160C>T uc003ers.2 - 3 1171 c.969G>A c.(967-969)CTG>CTA p.L323L NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 323 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 GGCCTTTAATCAGGTCCCTGT 0.522 NaN 0 0 0 0.001984 0 7 114 ZBTB38 253461 broad.mit.edu 37 3 141161237 141161237 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:141161237G>A uc003etw.2 + 8 989 c.7G>A c.(7-9)GTC>ATC p.V3I ZBTB38_uc010hun.2_5'UTR|ZBTB38_uc010huo.2_Missense_Mutation_p.V3I|ZBTB38_uc003ety.2_Missense_Mutation_p.V3I|ZBTB38_uc010hup.2_Missense_Mutation_p.V4I NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 3 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCAGATGACAGTCATGTCCCT 0.438 NaN 0 0 0 0.010504 0 19 121 ZBTB38 253461 broad.mit.edu 37 3 141163550 141163550 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:141163550A>G uc003etw.2 + 8 3302 c.2320A>G c.(2320-2322)ATT>GTT p.I774V ZBTB38_uc010hun.2_Missense_Mutation_p.I771V|ZBTB38_uc010huo.2_Missense_Mutation_p.I774V|ZBTB38_uc003ety.2_Missense_Mutation_p.I774V|ZBTB38_uc010hup.2_Missense_Mutation_p.I775V NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 774 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 ACCCAAAAGCATTAAGGAGAA 0.468 NaN 0 0 0 0.00308 0 6 39 ATR 545 broad.mit.edu 37 3 142226809 142226809 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:142226809C>T uc003eux.3 - 28 5117 c.4995G>A c.(4993-4995)AAG>AAA p.K1665K NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1665 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TATTTTGCTTCTTTTCTGTAA 0.348 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.006214 0 8 48 HPS3 84343 broad.mit.edu 37 3 148872982 148872982 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:148872982G>A uc003ewu.1 + 8 1629 c.1489G>A c.(1489-1491)GTG>ATG p.V497M HPS3_uc011bnq.1_Missense_Mutation_p.V332M NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 497 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GATCTCACCAGTGCAGCTGTA 0.333 NaN Hermansky-Pudlak_syndrome 0 0 0 0.004007 0 14 84 CCNL1 57018 broad.mit.edu 37 3 156866286 156866286 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:156866286T>A uc003fbf.2 - 11 1924 c.1325A>T c.(1324-1326)AAT>ATT p.N442I CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Missense_Mutation_p.N236I|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA NM_020307 NP_064703 Q9UK58 CCNL1_HUMAN cyclin L1 442 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding lung(3)|breast(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) AGAACCATGATTATGATGTCT 0.423 NaN 0 0 0 0.014323 0 21 124 SMC4 10051 broad.mit.edu 37 3 160138558 160138558 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:160138558G>C uc003fdh.2 + 13 2001 c.1888G>C c.(1888-1890)GAC>CAC p.D630H IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D394H|SMC4_uc003fdi.2_Missense_Mutation_p.D605H|SMC4_uc003fdj.2_Missense_Mutation_p.D630H|SMC4_uc010hwd.2_Missense_Mutation_p.D630H|SMC4_uc003fdl.2_Missense_Mutation_p.D333H NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 630 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGAAAAATACGACGTGGCTAT 0.373 NaN 0 0 0 0.010504 0 18 133 CCDC39 339829 broad.mit.edu 37 3 180359944 180359944 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:180359944T>G uc010hxe.2 - 13 1826 c.1711A>C c.(1711-1713)ACT>CCT p.T571P CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 571 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTTCTCGAGTACGCTTAACT 0.323 NaN 0 0 0 0.010729 0 10 24 KLHL6 89857 broad.mit.edu 37 3 183217612 183217612 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:183217612T>A uc003flr.2 - 4 971 c.913A>T c.(913-915)ATT>TTT p.I305F KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 305 haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CGTTCCGAAATGATCTGGAAA 0.363 NaN 0 0 0 0.001984 0 6 42 EPHB3 2049 broad.mit.edu 37 3 184299392 184299392 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:184299392G>A uc003foz.2 + 16 3416 c.2979G>A c.(2977-2979)ACG>ACA p.T993T NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 993 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TGAACCAGACGCTGCCTGTGC 0.617 NaN 0 0 0 0.009096 0 3 29 DGKG 1608 broad.mit.edu 37 3 185970927 185970927 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:185970927G>A uc003fqa.2 - 18 2092 c.1555C>T c.(1555-1557)CTT>TTT p.L519F DGKG_uc003fqb.2_Missense_Mutation_p.L480F|DGKG_uc003fqc.2_Missense_Mutation_p.L494F|DGKG_uc011brx.1_Missense_Mutation_p.L460F NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 519 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCTGTTCCAAGAGGCAGGACA 0.512 NaN 0 0 0 0.007413 0 15 126 KIAA0226 9711 broad.mit.edu 37 3 197427591 197427591 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:197427591C>T uc003fyc.2 - 7 1337 c.1154G>A c.(1153-1155)CGC>CAC p.R385H KIAA0226_uc003fyd.3_Missense_Mutation_p.R325H|KIAA0226_uc003fye.1_Missense_Mutation_p.R92H|KIAA0226_uc003fyf.2_Missense_Mutation_p.R218H|KIAA0226_uc003fyg.2_Missense_Mutation_p.R378H NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 385 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GCTGGACCTGCGGAGGACACT 0.577 NaN 0 0 0 0.012319 0 22 85 FGFR3 2261 broad.mit.edu 37 4 1807559 1807559 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:1807559C>T uc003gdr.3 + 13 1984 c.1728C>T c.(1726-1728)GAC>GAT p.D576D FGFR3_uc003gdu.2_Silent_p.D578D|FGFR3_uc003gds.3_Silent_p.D464D|FGFR3_uc003gdq.3_Silent_p.D577D NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 576 Protein kinase.|Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) cgggccTGGACTACTCCTTCG 0.567 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.01441 0 35 159 OTOP1 133060 broad.mit.edu 37 4 4199012 4199012 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:4199012C>T uc003ghp.1 - 5 1579 c.1549G>A c.(1549-1551)GAG>AAG p.E517K NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 517 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTGCTCTCCTCCTGCTTCTCC 0.567 NaN 0 0 0 0.00308 0 8 80 GABRB1 2560 broad.mit.edu 37 4 47427924 47427924 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:47427924C>G uc003gxh.2 + 9 1688 c.1314C>G c.(1312-1314)GTC>GTG p.V438V GABRB1_uc011bze.1_Silent_p.V368V NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 438 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGCTCAAAGTCAAGATCCCCG 0.572 NaN 0 0 0 0.012319 0 20 157 GC 2638 broad.mit.edu 37 4 72622632 72622632 + Splice_Site SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:72622632C>T uc003hge.2 - 8 985 c.832_splice c.e8-1 p.L278_splice GC_uc003hgd.2_Splice_Site_p.L156_splice|GC_uc010iie.2_Splice_Site_p.L278_splice|GC_uc010iif.2_Splice_Site_p.L297_splice NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GTTCAGGCAGCTACAAAACGA 0.338 NaN 0 0 0 0.01441 0 54 84 ANKRD17 26057 broad.mit.edu 37 4 73959821 73959821 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:73959821T>C uc003hgp.2 - 28 5419 c.5302A>G c.(5302-5304)ACT>GCT p.T1768A ANKRD17_uc003hgo.2_Missense_Mutation_p.T1655A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1517A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1767A NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1768 KH. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CGGTCTCCAGTCTTGTCTTTC 0.358 NaN 0 0 0 0.01441 0 139 120 WDFY3 23001 broad.mit.edu 37 4 85678145 85678145 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:85678145A>T uc003hpd.2 - 33 5766 c.5358T>A c.(5356-5358)AGT>AGA p.S1786R NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1786 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAGGCAGCTCACTAACTGGCT 0.502 NaN 0 0 0 0.013726 0 30 214 HERC6 55008 broad.mit.edu 37 4 89352340 89352340 + Silent SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:89352340T>A uc011cdi.1 + 17 2316 c.2133T>A c.(2131-2133)CCT>CCA p.P711P HERC6_uc011cdj.1_Silent_p.P675P|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 711 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) AAATTTGTCCTGAGTCTGGAG 0.373 NaN 0 0 0 0.003163 0 14 118 GPRIN3 285513 broad.mit.edu 37 4 90169257 90169257 + Missense_Mutation SNP C C T rs140505056 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:90169257C>T uc003hsm.1 - 2 2524 c.2005G>A c.(2005-2007)GCA>ACA p.A669T NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 669 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TTGGAGTCTGCGCCAAGCTGC 0.547 NaN 0 0 0 0.006214 0 8 53 BBS7 55212 broad.mit.edu 37 4 122782704 122782704 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:122782704T>A uc003ied.2 - 4 470 c.296A>T c.(295-297)CAG>CTG p.Q99L BBS7_uc003iee.1_Missense_Mutation_p.Q99L|BBS7_uc010inq.1_Missense_Mutation_p.Q55L NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 99 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 GGAGAGGAACTGTTTTCCTCT 0.353 NaN Bardet-Biedl_syndrome 0 0 0 0.006122 0 14 57 KIAA1109 84162 broad.mit.edu 37 4 123122253 123122253 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:123122253C>T uc003ieh.2 + 13 1515 c.1470C>T c.(1468-1470)TTC>TTT p.F490F KIAA1109_uc003iei.1_Silent_p.F244F|KIAA1109_uc010ins.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 490 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CTTACCACTTCATCTTTGCAC 0.358 NaN 0 0 0 0.001168 0 4 72 ADAD1 132612 broad.mit.edu 37 4 123317468 123317468 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:123317468A>G uc003ieo.2 + 7 892 c.660A>G c.(658-660)CTA>CTG p.L220L ADAD1_uc003iep.2_Silent_p.L220L|ADAD1_uc003ieq.2_Silent_p.L202L NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 220 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TTAATCAACTAATTTCTAATC 0.284 NaN 0 0 0 0.008291 0 8 61 LARP1B 55132 broad.mit.edu 37 4 129043216 129043216 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:129043216G>C uc003iga.2 + 11 1528 c.1397G>C c.(1396-1398)CGA>CCA p.R466P LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.R466P|LARP1B_uc003igb.1_Missense_Mutation_p.R181P NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 466 RNA binding 0 GGAGGAGATCGAACAGGCACC 0.368 NaN 0 0 0 0.00278 0 19 114 PCDH18 54510 broad.mit.edu 37 4 138452557 138452557 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:138452557G>A uc003ihe.3 - 1 1073 c.686C>T c.(685-687)TCA>TTA p.S229L PCDH18_uc003ihf.3_Missense_Mutation_p.S222L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S9L|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 229 Extracellular (Potential).|Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TAGTATGGATGAGCCAGACCT 0.463 NaN 0 0 0 0.001168 0 6 85 SFRP2 6423 broad.mit.edu 37 4 154709870 154709870 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:154709870A>T uc003inv.1 - 1 359 c.118T>A c.(118-120)TGC>AGC p.C40S NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 precursor 40 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.093) Renal(120;0.117) ATGGGCTTGCAATTGCTGCGC 0.637 NaN 0 0 0 0.001855 0 8 108 FNIP2 57600 broad.mit.edu 37 4 159782529 159782529 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:159782529T>C uc003iqe.3 + 11 1367 c.1184T>C c.(1183-1185)ATA>ACA p.I395T NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 395 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GTTCCAAGGATAGCTGAACCT 0.393 NaN 0 0 0 0.004672 0 3 38 SCRG1 11341 broad.mit.edu 37 4 174312370 174312370 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:174312370C>T uc003ite.2 - 2 609 c.196G>A c.(196-198)GAG>AAG p.E66K SCRG1_uc003itf.2_RNA NM_007281 NP_009212 O75711 SCRG1_HUMAN stimulator of chondrogenesis 1 precursor 66 nervous system development extracellular space 0 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) CAGATCATCTCACATCCCTTC 0.438 NaN 0 0 0 0.003163 0 11 228 FAT1 2195 broad.mit.edu 37 4 187541336 187541336 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:187541336A>T uc003izf.2 - 10 6592 c.6404T>A c.(6403-6405)ATT>AAT p.I2135N NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2135 Extracellular (Potential).|Cadherin 19. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTTCAGTGAAATTTCACCCAA 0.423 NaN HNSCC(5;0.00058) 0 0 0 0.007413 0 17 83 SLC9A3 6550 broad.mit.edu 37 5 482240 482240 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:482240C>T uc003jbe.2 - 8 1501 c.1389G>A c.(1387-1389)CTG>CTA p.L463L SLC9A3_uc011clx.1_Silent_p.L454L NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 463 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCTTCACCTTCAGCCACTGCA 0.701 NaN 0 0 0 0.010729 0 9 49 CLPTM1L 81037 broad.mit.edu 37 5 1338993 1338993 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:1338993A>T uc003jch.2 - 4 627 c.581T>A c.(580-582)GTG>GAG p.V194E CLPTM1L_uc003jcg.2_Missense_Mutation_p.V61E NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 194 Extracellular (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GTACCGATGCACATCGGCAGG 0.647 NaN 0 0 0 0.00333 0 21 139 ADCY2 108 broad.mit.edu 37 5 7817000 7817000 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:7817000C>T uc003jdz.1 + 23 2972 c.2905C>T c.(2905-2907)CAC>TAC p.H969Y ADCY2_uc011cmo.1_Missense_Mutation_p.H789Y|ADCY2_uc010itm.1_Missense_Mutation_p.H165Y NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 969 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 GCAGTACATGCACATTGGCAC 0.517 NaN OREG0016499 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 91 DNAH5 1767 broad.mit.edu 37 5 13901509 13901509 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:13901509T>C uc003jfd.2 - 14 1946 c.1904A>G c.(1903-1905)CAT>CGT p.H635R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 635 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTGAATCCTATGGAAGAGCTG 0.507 NaN Kartagener_syndrome 0 0 0 0.00308 0 6 39 KIF2A 3796 broad.mit.edu 37 5 61669661 61669661 + Missense_Mutation SNP A A C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:61669661A>C uc003jsy.3 + 17 2105 c.1794A>C c.(1792-1794)CAA>CAC p.Q598H KIF2A_uc003jsz.3_Missense_Mutation_p.Q636H|KIF2A_uc010iwp.2_Missense_Mutation_p.Q579H|KIF2A_uc003jsx.3_Missense_Mutation_p.Q578H|KIF2A_uc010iwq.2_Missense_Mutation_p.Q401H NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 598 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TTTGTGAACAAAATGTGAGTG 0.383 NaN 0 0 0 0.004007 0 13 74 MAST4 375449 broad.mit.edu 37 5 66440574 66440574 + Silent SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:66440574C>A uc003jut.1 + 21 2309 c.2241C>A c.(2239-2241)ACC>ACA p.T747T MAST4_uc003juu.1_Silent_p.T757T|MAST4_uc011cra.1_Silent_p.T730T|MAST4_uc003juv.2_Silent_p.T742T|MAST4_uc003juw.2_Silent_p.T742T NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 939 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCAAAAGCACCACCTTGCCAT 0.398 NaN 1 0 0.00909568 0.009096 0.00921723 4 26 HOMER1 9456 broad.mit.edu 37 5 78692703 78692703 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:78692703T>G uc003kfy.2 - 8 1922 c.819A>C c.(817-819)GAA>GAC p.E273D HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.E143D|HOMER1_uc010jad.2_Missense_Mutation_p.E99D NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 273 Potential. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CATTATCAATTTCTTGTTTTA 0.348 NaN 0 0 0 0.001984 0 6 19 ANKRD34B 340120 broad.mit.edu 37 5 79855446 79855446 + Silent SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:79855446T>C uc010jam.2 - 4 743 c.393A>G c.(391-393)ACA>ACG p.T131T ANKRD34B_uc003kgw.2_Silent_p.T131T|ANKRD34B_uc010jan.2_Silent_p.T131T NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 131 ANK 4. cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TCAGGGTCTCTGTATCTTCTG 0.438 NaN 0 0 0 0.003954 0 23 131 VCAN 1462 broad.mit.edu 37 5 82832894 82832894 + Missense_Mutation SNP A A G rs142339468 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:82832894A>G uc003kii.3 + 8 4428 c.4072A>G c.(4072-4074)AGT>GGT p.S1358G VCAN_uc003kij.3_Missense_Mutation_p.S371G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S22G NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1358 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGAACCTTGTAGTGAAGAAAC 0.318 NaN 0 0 0 0.010729 0 9 98 TTC37 9652 broad.mit.edu 37 5 94845328 94845328 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:94845328A>T uc003klb.2 - 29 3254 c.2984T>A c.(2983-2985)CTG>CAG p.L995Q NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 995 TPR 16. binding ovary(3)|pancreas(1) 4 TTCCTTTTTCAGTTGTAGATG 0.239 NaN 0 0 0 0.00308 0 6 49 CCNI2 645121 broad.mit.edu 37 5 132083140 132083140 + Translation_Start_Site SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:132083140A>G uc003kxq.1 + 1 4 c.-47A>G c.(-49--45)ATAAA>ATGAA CCNI2_uc011cxg.1_Translation_Start_Site|CCNI2_uc011cxh.1_Translation_Start_Site NM_001039780 NP_001034869 Q6ZMN8 CCNI2_HUMAN cyclin I family, member 2 regulation of cyclin-dependent protein kinase activity protein kinase binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTGGGTTATAAAATGCCGGG 0.701 NaN 0 0 0 0.004672 0 2 5 AFF4 27125 broad.mit.edu 37 5 132228738 132228738 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:132228738G>C uc003kyd.2 - 12 2788 c.2380C>G c.(2380-2382)CCA>GCA p.P794A AFF4_uc011cxk.1_Missense_Mutation_p.P472A|AFF4_uc003kye.1_Missense_Mutation_p.P794A NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 794 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGCTGGATGGCTTATGGCCT 0.423 NaN 0 0 0 0.01441 0 65 402 FSTL4 23105 broad.mit.edu 37 5 132552957 132552957 + Silent SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:132552957G>T uc003kyn.1 - 13 1790 c.1572C>A c.(1570-1572)GTC>GTA p.V524V FSTL4_uc003kym.1_Silent_p.V173V NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 524 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CGACCACAAGGACTCTGCTCA 0.507 NaN 1 0 2.79863e-10 0.004656 3.061e-10 19 102 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139917005 139917005 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:139917005A>G uc003lfs.1 + 31 7183 c.7059A>G c.(7057-7059)CCA>CCG p.P2353P ANKHD1_uc003lfr.2_Silent_p.P2353P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P1109P|ANKHD1_uc003lfw.2_Silent_p.P1008P|ANKHD1_uc010jfl.2_Silent_p.P729P|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.P507P NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2353 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCAACCAAAAGGAGTCA 0.522 NaN 0 0 0 0.006999 0 35 149 PCDHA10 56139 broad.mit.edu 37 5 140236270 140236270 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140236270G>A uc003lhx.2 + 1 637 c.637G>A c.(637-639)GCA>ACA p.A213T 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_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A213T|PCDHA10_uc011dad.1_Missense_Mutation_p.A213T NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 213 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGTTGACAGCAACTGATGG 0.423 NaN 0 0 0 0.00333 0 21 143 PCDHB7 56129 broad.mit.edu 37 5 140552984 140552984 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140552984A>G uc003lit.2 + 1 742 c.568A>G c.(568-570)ATC>GTC p.I190V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 190 Extracellular (Potential).|Cadherin 2. 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) GGAGGGGAATATCTATCCCGA 0.488 NaN 0 0 0 0.007413 0 16 66 PCDHGA7 56108 broad.mit.edu 37 5 140764040 140764040 + Nonsense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:140764040T>A uc003lka.1 + 1 1574 c.1574T>A c.(1573-1575)TTG>TAG p.L525* 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.L525* NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 525 Extracellular (Potential).|Cadherin 5. 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) TATGAGCAGTTGAGAGAACTA 0.532 NaN 0 0 0 0.000602 0 5 67 CSNK1A1 1452 broad.mit.edu 37 5 148929685 148929685 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:148929685G>T uc003lqx.1 - 2 663 c.183C>A c.(181-183)AGC>AGA p.S61R CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.S61R|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S61R|CSNK1A1_uc010jha.1_Missense_Mutation_p.S61R NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 61 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) TATAGAGCTTGCTCTCGTACA 0.542 NaN 1 0 6.94344e-10 0.006122 7.54002e-10 14 167 RMND5B 64777 broad.mit.edu 37 5 177573138 177573138 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:177573138C>T uc003mim.2 + 8 898 c.718C>T c.(718-720)CTG>TTG p.L240L RMND5B_uc003min.2_Silent_p.L240L|RMND5B_uc003mio.2_Silent_p.L227L|RMND5B_uc003mip.2_Silent_p.L240L|RMND5B_uc011dgf.1_Silent_p.L281L|RMND5B_uc003miq.2_Silent_p.L180L NM_022762 NP_073599 Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog 240 ovary(1)|skin(1) 2 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) GATGGGCAGCCTGGTGTACCT 0.642 NaN OREG0017097 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 7 48 AGXT2L2 85007 broad.mit.edu 37 5 177640080 177640080 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:177640080C>G uc003miz.2 - 11 1449 c.1197G>C c.(1195-1197)CTG>CTC p.L399L AGXT2L2_uc003miy.2_Silent_p.L124L|AGXT2L2_uc003mjc.2_Silent_p.L358L|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Silent_p.L124L|AGXT2L2_uc003mjd.1_Silent_p.L257L NM_153373 NP_699204 Q8IUZ5 AT2L2_HUMAN alanine-glyoxylate aminotransferase 2-like 2 399 mitochondrion pyridoxal phosphate binding|transaminase activity pancreas(1) 1 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CATCAGTGCTCAGCAAAACGT 0.567 NaN 0 0 0 0.008291 0 7 101 ADAMTS2 9509 broad.mit.edu 37 5 178552080 178552080 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:178552080G>T uc003mjw.2 - 19 2852 c.2852C>A c.(2851-2853)ACC>AAC p.T951N NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 951 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACGGAGCGGGTGGTGTTGTC 0.697 NaN 1 0 4.06502e-11 0.013114 4.45683e-11 38 220 DSP 1832 broad.mit.edu 37 6 7586077 7586077 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:7586077C>A uc003mxp.1 + 24 8861 c.8582C>A c.(8581-8583)TCC>TAC p.S2861Y DSP_uc003mxq.1_Missense_Mutation_p.S2262Y NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2861 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACTCTTATTCCTACTCATTT 0.313 NaN 1 0 5.3912e-06 0.006122 5.67824e-06 13 172 SNRNP48 154007 broad.mit.edu 37 6 7602960 7602960 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:7602960A>G uc003mxr.2 + 6 759 c.700A>G c.(700-702)AAG>GAG p.K234E SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 234 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 TCACATAACCAAGAAATCATA 0.333 NaN 0 0 0 0.00308 0 6 47 SLC35B3 51000 broad.mit.edu 37 6 8422784 8422784 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:8422784C>A uc010joe.2 - 5 659 c.493G>T c.(493-495)GGC>TGC p.G165C SLC35B3_uc003mya.2_Missense_Mutation_p.G133C|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.G165C|SLC35B3_uc011did.1_Missense_Mutation_p.G165C|SLC35B3_uc003myd.2_RNA NM_001142541 NP_001136013 Q9H1N7 S35B3_HUMAN solute carrier family 35, member B3 165 Helical; (Potential). transmembrane transport Golgi membrane|integral to membrane 0 Ovarian(93;0.0569) TTCAGGTAGCCCAAGGAAGTG 0.358 NaN 1 0 4.35082e-09 0.010504 4.67996e-09 16 66 HIST1H4I 8294 broad.mit.edu 37 6 27107349 27107349 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:27107349G>T uc003niy.1 + 1 262 c.262G>T c.(262-264)GTC>TTC p.V88F HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 88 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 CATGGACGTGGTCTACGCGCT 0.602 NaN T BCL6 NHL 1 0 1.05317e-09 0.00245 1.14093e-09 10 88 PGBD1 84547 broad.mit.edu 37 6 28269267 28269267 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:28269267G>A uc003nky.2 + 7 2006 c.1636G>A c.(1636-1638)GAT>AAT p.D546N PGBD1_uc003nkz.2_Missense_Mutation_p.D546N NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 546 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CTATTGCTTTGATAAGTCAAT 0.348 NaN 0 0 0 0.006122 0 17 144 PGBD1 84547 broad.mit.edu 37 6 28269301 28269301 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:28269301A>G uc003nky.2 + 7 2040 c.1670A>G c.(1669-1671)CAA>CGA p.Q557R PGBD1_uc003nkz.2_Missense_Mutation_p.Q557R NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 557 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 GATAGTGACCAATTCCTGAAT 0.363 NaN 0 0 0 0.00245 0 14 116 MDC1 9656 broad.mit.edu 37 6 30680687 30680687 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:30680687G>A uc003nrg.3 - 5 1472 c.1032C>T c.(1030-1032)GTC>GTT p.V344V MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Silent_p.V216V|MDC1_uc003nrh.1_Silent_p.V216V|MDC1_uc003nri.2_Silent_p.V344V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 344 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TCATAGGAATGACAACTGGGG 0.547 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.006122 0 18 113 IP6K3 117283 broad.mit.edu 37 6 33690810 33690810 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:33690810C>T uc010jvf.2 - 7 1456 c.920G>A c.(919-921)CGG>CAG p.R307Q IP6K3_uc003ofb.2_Missense_Mutation_p.R307Q NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 307 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 GAGGAGGGCCCGGAGCTGGTG 0.552 NaN 0 0 0 0.00245 0 12 54 KCNK5 8645 broad.mit.edu 37 6 39159465 39159465 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:39159465C>A uc003oon.2 - 5 1065 c.701G>T c.(700-702)GGG>GTG p.G234V NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 234 Helical; (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CCAGGCCAGCCCCAAGTAGAT 0.577 NaN 1 0 1.10923e-09 0.00278 1.19881e-09 22 180 CUL9 23113 broad.mit.edu 37 6 43152278 43152278 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:43152278C>T uc003ouk.2 + 2 305 c.230C>T c.(229-231)CCT>CTT p.P77L CUL9_uc003ouj.1_Missense_Mutation_p.P77L|CUL9_uc003oul.2_Missense_Mutation_p.P77L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 77 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GCCAACTGCCCTGGGCTGTTA 0.572 NaN 0 0 0 0.00308 0 6 91 C6orf138 442213 broad.mit.edu 37 6 47846771 47846771 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:47846771G>C uc011dwm.1 - 3 1843 c.1758C>G c.(1756-1758)ATC>ATG p.I586M C6orf138_uc011dwn.1_Missense_Mutation_p.I350M NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 603 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GAGAAGCAATGATATTGCTTT 0.433 NaN 0 0 0 0.001168 0 6 53 MUT 4594 broad.mit.edu 37 6 49416588 49416588 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:49416588C>T uc003ozg.3 - 7 1640 c.1385G>A c.(1384-1386)GGA>GAA p.G462E NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 462 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTAGGTATTCCCTCAGCTAC 0.333 NaN 0 0 0 0.014323 0 16 227 PKHD1 5314 broad.mit.edu 37 6 51612779 51612779 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:51612779A>G uc003pah.1 - 58 9911 c.9635T>C c.(9634-9636)TTT>TCT p.F3212S PKHD1_uc010jzn.1_Missense_Mutation_p.F1195S|PKHD1_uc003pai.2_Missense_Mutation_p.F3212S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3212 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) AATGCAGTCAAAAGAAGAGCT 0.448 NaN 0 0 0 0.00333 0 22 128 PKHD1 5314 broad.mit.edu 37 6 51824704 51824704 + Missense_Mutation SNP T T A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:51824704T>A uc003pah.1 - 36 6148 c.5872A>T c.(5872-5874)ACT>TCT p.T1958S PKHD1_uc003pai.2_Missense_Mutation_p.T1958S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1958 Extracellular (Potential).|G8 1. 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) CTTGTGTTAGTGTCCAGCAGA 0.463 NaN OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 18 210 PKHD1 5314 broad.mit.edu 37 6 51824706 51824706 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:51824706T>C uc003pah.1 - 36 6146 c.5870A>G c.(5869-5871)GAC>GGC p.D1957G PKHD1_uc003pai.2_Missense_Mutation_p.D1957G NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1957 Extracellular (Potential).|G8 1. 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) TGTGTTAGTGTCCAGCAGAAG 0.453 NaN OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 16 210 FIG4 9896 broad.mit.edu 37 6 110106228 110106228 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:110106228G>A uc003ptt.2 + 17 2160 c.1945G>A c.(1945-1947)GAA>AAA p.E649K FIG4_uc011eau.1_Missense_Mutation_p.E372K NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 649 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCCCTATGATGAAGGTAGGTA 0.289 NaN 0 0 0 0.00278 0 18 183 MAN1A1 4121 broad.mit.edu 37 6 119669755 119669755 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:119669755T>C uc003pym.1 - 2 918 c.476A>G c.(475-477)CAG>CGG p.Q159R MAN1A1_uc010kei.1_Missense_Mutation_p.Q159R NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 159 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) CAGCTGGTCCTGGGCCACCTT 0.652 NaN 0 0 0 0.008291 0 9 97 HSF2 3298 broad.mit.edu 37 6 122733867 122733867 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:122733867C>G uc003pyu.2 + 3 475 c.288C>G c.(286-288)TTC>TTG p.F96L HSF2_uc003pyt.3_Missense_Mutation_p.F96L|HSF2_uc003pyv.2_Missense_Mutation_p.F96L NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 96 By similarity. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) ATCCTTACTTCAAACAAGGAC 0.398 NaN 0 0 0 0.001984 0 7 133 CTGF 1490 broad.mit.edu 37 6 132270442 132270442 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:132270442A>G uc003qcz.2 - 5 1218 c.1012T>C c.(1012-1014)TCG>CCG p.S338P NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 338 Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) TAGTACAGCGATTCAAAGATG 0.453 NaN 0 0 0 0.00499 0 14 109 AHI1 54806 broad.mit.edu 37 6 135787429 135787429 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:135787429T>C uc003qgi.2 - 7 656 c.272A>G c.(271-273)AAG>AGG p.K91R AHI1_uc003qgh.2_Missense_Mutation_p.K91R|AHI1_uc003qgj.2_Missense_Mutation_p.K91R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K91R NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 91 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CGTGCTCTTCTTCAGGTTGTT 0.393 NaN 0 0 0 0.007291 0 27 229 TNFAIP3 7128 broad.mit.edu 37 6 138198260 138198260 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:138198260G>A uc003qhr.2 + 6 919 c.853G>A c.(853-855)GAC>AAC p.D285N TNFAIP3_uc003qhs.2_Missense_Mutation_p.D285N NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 285 TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AAGATTTGAAGACTTAAAAGT 0.373 NaN D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 0 0 0 0.010729 0 11 98 PLEKHG1 57480 broad.mit.edu 37 6 151152027 151152027 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:151152027G>A uc003qny.1 + 16 2092 c.1780G>A c.(1780-1782)GAG>AAG p.E594K PLEKHG1_uc011eel.1_Missense_Mutation_p.E634K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E653K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E594K NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 594 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGGACAGATGGAGTCCACAGA 0.532 NaN 0 0 0 0.006214 0 7 131 SYNJ2 8871 broad.mit.edu 37 6 158516772 158516772 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:158516772A>G uc003qqx.1 + 27 3942 c.3867A>G c.(3865-3867)CCA>CCG p.P1289P SYNJ2_uc003qqy.1_Silent_p.P1002P|SYNJ2_uc003qqz.1_Silent_p.P906P|SYNJ2_uc003qra.1_Silent_p.P632P|SYNJ2_uc010kjp.1_Silent_p.P172P NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 1289 Catalytic (By similarity).|Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TTCCCAAACCAAGAACATTTC 0.597 NaN 0 0 0 0.008291 0 10 52 MAP3K4 4216 broad.mit.edu 37 6 161470322 161470322 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:161470322C>G uc003qtn.2 + 3 1160 c.1018C>G c.(1018-1020)CAT>GAT p.H340D MAP3K4_uc010kkc.1_Missense_Mutation_p.H340D|MAP3K4_uc003qto.2_Missense_Mutation_p.H340D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 340 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTACTCAACACATCATGAGCA 0.453 NaN 0 0 0 0.004482 0 7 73 MAP3K4 4216 broad.mit.edu 37 6 161470565 161470565 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:161470565G>C uc003qtn.2 + 3 1403 c.1261G>C c.(1261-1263)GAC>CAC p.D421H MAP3K4_uc010kkc.1_Missense_Mutation_p.D421H|MAP3K4_uc003qto.2_Missense_Mutation_p.D421H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 421 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAATTTATCAGACATTGGCTG 0.438 NaN 0 0 0 0.006214 0 8 71 SNX8 29886 broad.mit.edu 37 7 2311576 2311576 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:2311576C>G uc003slw.2 - 4 492 c.449G>C c.(448-450)AGA>ACA p.R150T NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 150 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) CTTCAGGGCTCTCCTCCTGGC 0.637 NaN 0 0 0 0.009096 0 4 59 CREB5 9586 broad.mit.edu 37 7 28858795 28858795 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:28858795C>A uc003szq.2 + 11 1816 c.1426C>A c.(1426-1428)CAT>AAT p.H476N CREB5_uc003szo.2_Missense_Mutation_p.H443N|CREB5_uc003szr.2_Missense_Mutation_p.H469N|CREB5_uc003szs.2_Missense_Mutation_p.H337N NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 476 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 AGTCATCCAGCATAATACCAT 0.502 NaN 1 0 9.64103e-21 0.01441 1.09667e-20 60 247 ANLN 54443 broad.mit.edu 37 7 36445999 36445999 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:36445999G>T uc003tff.2 + 4 901 c.697G>T c.(697-699)GCT>TCT p.A233S ANLN_uc011kaz.1_Missense_Mutation_p.A145S|ANLN_uc003tfg.2_Missense_Mutation_p.A233S|ANLN_uc010kxe.2_Missense_Mutation_p.A233S NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 233 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 GCCTGGTACCGCTTGTTTATC 0.458 NaN 1 0 4.7546e-09 0.004007 5.10223e-09 17 67 ELMO1 9844 broad.mit.edu 37 7 37311474 37311474 + Missense_Mutation SNP A A T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:37311474A>T uc003tfk.1 - 5 513 c.206T>A c.(205-207)ATA>AAA p.I69K ELMO1_uc011kbc.1_5'UTR|ELMO1_uc010kxg.1_Missense_Mutation_p.I69K NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 69 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GCCATTTTTTATCTCATTGCG 0.353 NaN 0 0 0 0.004482 0 6 107 HUS1 3364 broad.mit.edu 37 7 48015279 48015279 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:48015279A>G uc003tod.1 - 5 601 c.471T>C c.(469-471)AGT>AGC p.S157S HUS1_uc003toe.1_Silent_p.S157S|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 157 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) GTAAATAAATACTAACCTACA 0.318 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.00308 0 6 32 EGFR 1956 broad.mit.edu 37 7 55214318 55214318 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:55214318G>A uc003tqk.2 + 4 690 c.444G>A c.(442-444)GTG>GTA p.V148V EGFR_uc003tqh.2_Silent_p.V148V|EGFR_uc003tqi.2_Silent_p.V148V|EGFR_uc003tqj.2_Silent_p.V148V|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Silent_p.V95V NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 148 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATGGCGCCGTGCGGTTCAGCA 0.532 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 0 0 0 0.006122 0 15 102 POR 5447 broad.mit.edu 37 7 75615697 75615697 + Nonsense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:75615697C>A uc003udy.2 + 16 2023 c.1941C>A c.(1939-1941)TAC>TAA p.Y647* POR_uc011kgc.1_Nonsense_Mutation_p.Y455*|POR_uc011kgd.1_Missense_Mutation_p.T553K|POR_uc011kge.1_Nonsense_Mutation_p.Y385*|POR_uc003uea.2_Nonsense_Mutation_p.Y134* NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 644 cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) ACACCTTCTACGACATCGTGG 0.632 NaN 1 0 1.55795e-14 0.012319 1.72894e-14 17 88 RSBN1L 222194 broad.mit.edu 37 7 77326204 77326204 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:77326204C>T uc010ldt.1 + 1 462 c.418C>T c.(418-420)CAC>TAC p.H140Y RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 140 nucleus ovary(1) 1 CGCTCAGCCTCACCATCTCCT 0.682 NaN 0 0 0 0.004482 0 6 51 PCLO 27445 broad.mit.edu 37 7 82579040 82579040 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:82579040C>T uc003uhx.2 - 6 11153 c.10864G>A c.(10864-10866)GTC>ATC p.V3622I PCLO_uc003uhv.2_Missense_Mutation_p.V3622I|PCLO_uc010lec.2_Missense_Mutation_p.V587I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3553 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAGTAAAGGACTTTGGGGGAT 0.478 NaN 0 0 0 0.006122 0 18 99 PCLO 27445 broad.mit.edu 37 7 82579271 82579271 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:82579271C>T uc003uhx.2 - 6 10922 c.10633G>A c.(10633-10635)GCC>ACC p.A3545T PCLO_uc003uhv.2_Missense_Mutation_p.A3545T|PCLO_uc010lec.2_Missense_Mutation_p.A510T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3476 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCTACCTTGGCATCCACTCGT 0.443 NaN 0 0 0 0.004482 0 8 57 CDK14 5218 broad.mit.edu 37 7 90528655 90528655 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:90528655C>T uc003uky.2 + 7 911 c.689C>T c.(688-690)CCA>CTA p.P230L CDK14_uc003ukz.1_Missense_Mutation_p.P212L|CDK14_uc010les.1_Missense_Mutation_p.P184L|CDK14_uc011khl.1_Missense_Mutation_p.P101L NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 230 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 GGGCTGCATCCAGATAATGTG 0.363 NaN 0 0 0 0.00499 0 12 50 FZD1 8321 broad.mit.edu 37 7 90894816 90894816 + Silent SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:90894816C>T uc003ula.2 + 1 1034 c.621C>T c.(619-621)TTC>TTT p.F207F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 207 FZ.|Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) AGTTCGGCTTCCAGTGGCCAG 0.701 NaN 0 0 0 0.00499 0 15 75 KRIT1 889 broad.mit.edu 37 7 91855114 91855114 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:91855114G>C uc003ulq.1 - 10 1345 c.1174C>G c.(1174-1176)CCA>GCA p.P392A KRIT1_uc010lev.1_Intron|KRIT1_uc003ulr.1_Missense_Mutation_p.P392A|KRIT1_uc003uls.1_Missense_Mutation_p.P392A|KRIT1_uc003ult.1_Missense_Mutation_p.P344A|KRIT1_uc003ulu.1_Missense_Mutation_p.P392A|KRIT1_uc003ulv.1_Missense_Mutation_p.P392A NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 392 ANK 4. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATATTTAATGGAGATCTTCCT 0.348 NaN Familial_Cerebral_Cavernous_Angioma 0 0 0 0.008291 0 11 87 GPC2 221914 broad.mit.edu 37 7 99771457 99771457 + Splice_Site SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:99771457C>A uc003utv.2 - 5 1060 c.892_splice c.e5+1 p.D298_splice GPC2_uc010lgr.2_Intron|GPC2_uc003utw.1_3'UTR NM_152742 NP_689955 Q8N158 GPC2_HUMAN glypican 2 precursor anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|pancreas(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AATCCCCTCACCCAGATAGTT 0.378 NaN 1 0 3.13765e-25 0.01441 3.59605e-25 56 628 CUX1 1523 broad.mit.edu 37 7 101882763 101882763 + Silent SNP G G T rs140169027 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:101882763G>T uc003uyx.3 + 23 3824 c.3786G>T c.(3784-3786)GCG>GCT p.A1262A CUX1_uc003uys.3_Silent_p.A1273A|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 1262 Homeobox. 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 TGAAACGAGCGTATCAGCAAA 0.597 NaN 1 0 2.61193e-14 0.009535 2.88454e-14 28 87 LAMB4 22798 broad.mit.edu 37 7 107706844 107706844 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:107706844C>A uc010ljo.1 - 20 2732 c.2648G>T c.(2647-2649)GGA>GTA p.G883V LAMB4_uc003vey.2_Missense_Mutation_p.G883V|LAMB4_uc010ljp.1_5'Flank NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 883 Laminin EGF-like 8. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGTAAAGCCTCCACAATTGAA 0.428 NaN 1 0 1.12685e-05 0.004482 1.17866e-05 7 49 LMOD2 442721 broad.mit.edu 37 7 123302814 123302814 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:123302814T>C uc003vky.2 + 2 1331 c.1174T>C c.(1174-1176)TCT>CCT p.S392P NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 392 Pro-rich. cytoskeleton actin binding|tropomyosin binding 0 ACCTTATGTATCTCCCAGGCA 0.488 NaN 0 0 0 0.001855 0 13 90 IRF5 3663 broad.mit.edu 37 7 128586051 128586051 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:128586051G>C uc003vog.2 + 3 469 c.348G>C c.(346-348)AAG>AAC p.K116N IRF5_uc010llr.1_Missense_Mutation_p.K116N|IRF5_uc011kot.1_Missense_Mutation_p.K116N|IRF5_uc011kou.1_Missense_Mutation_p.K116N|IRF5_uc010lls.1_Missense_Mutation_p.K116N|IRF5_uc003voh.2_Missense_Mutation_p.K116N|IRF5_uc010llt.2_Missense_Mutation_p.K116N|IRF5_uc003voi.2_Missense_Mutation_p.K116N|IRF5_uc010llu.1_Missense_Mutation_p.K116N|IRF5_uc003vok.2_Missense_Mutation_p.K116N|IRF5_uc003voj.3_Missense_Mutation_p.K116N|IRF5_uc010llv.1_Missense_Mutation_p.K116N|IRF5_uc010llw.1_Missense_Mutation_p.K116N NM_002200 NP_002191 Q13568 IRF5_HUMAN interferon regulatory factor 5 isoform a 116 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCCCTACAAGATCTACGAGG 0.637 NaN 0 0 0 0.004482 0 6 71 CPA2 1358 broad.mit.edu 37 7 129929559 129929559 + Missense_Mutation SNP T T C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:129929559T>C uc003vpq.2 + 11 1251 c.1232T>C c.(1231-1233)ATG>ACG p.M411T NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 411 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) AAGGCAATCATGGAGCATGTG 0.522 NaN 0 0 0 0.012213 0 29 124 TMUB1 83590 broad.mit.edu 37 7 150779465 150779465 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:150779465C>A uc003wjb.2 - 1 301 c.186G>T c.(184-186)ATG>ATT p.M62I FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Missense_Mutation_p.M62I|TMUB1_uc003wjd.2_Missense_Mutation_p.M62I NM_031434 NP_113622 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain 62 cytoplasm|integral to membrane|nucleus 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCCCCTCTCATGCTGTCGG 0.687 NaN 1 0 3.7963e-18 0.00333 4.26498e-18 20 134 MLL3 58508 broad.mit.edu 37 7 151919766 151919766 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr7:151919766A>G uc003wla.2 - 21 3544 c.3325T>C c.(3325-3327)TGG>CGG p.W1109R MLL3_uc003wkz.2_Missense_Mutation_p.W170R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1109 PHD-type 6. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCATGCATCCATCTAAAAAGA 0.348 NaN N medulloblastoma 0 0 0 0.001984 0 6 33 RP1L1 94137 broad.mit.edu 37 8 10466033 10466033 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:10466033C>T uc003wtc.2 - 4 5804 c.5575G>A c.(5575-5577)GAT>AAT p.D1859N NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1859 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCCTGGGCATCCCCTTCTGCC 0.627 NaN 0 0 0 0.006122 0 14 323 SDR16C5 195814 broad.mit.edu 37 8 57228822 57228822 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:57228822C>T uc003xsy.1 - 2 723 c.85G>A c.(85-87)GCC>ACC p.A29T SDR16C5_uc010lyk.1_Missense_Mutation_p.A29T|SDR16C5_uc010lyl.1_Missense_Mutation_p.A29T NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN epidermal retinal dehydrogenase 2 29 Helical; (Potential). detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 GGGAGTAAGGCAAAAATCATA 0.458 NaN 0 0 0 0.003954 0 19 65 MTDH 92140 broad.mit.edu 37 8 98703239 98703239 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:98703239G>C uc003yhz.2 + 6 1199 c.871G>C c.(871-873)GTA>CTA p.V291L MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 291 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TGAAAAGTCTGTAAAACTCTC 0.418 NaN 0 0 0 0.00308 0 6 60 ZNF250 58500 broad.mit.edu 37 8 146108216 146108216 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:146108216C>T uc003zeq.3 - 6 484 c.367G>A c.(367-369)GAA>AAA p.E123K COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E118K|ZNF250_uc010mgg.2_Missense_Mutation_p.E118K NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) CCCTTGGTTTCACATTCTGAA 0.413 NaN 0 0 0 0.001855 0 11 167 VPS13A 23230 broad.mit.edu 37 9 79960014 79960014 + Silent SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:79960014C>G uc004akr.2 + 52 7505 c.7245C>G c.(7243-7245)CTC>CTG p.L2415L VPS13A_uc004akp.3_Silent_p.L2415L|VPS13A_uc004akq.3_Silent_p.L2415L|VPS13A_uc004aks.2_Silent_p.L2376L NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2415 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 CTACATTCCTCTTAATAAATC 0.343 NaN 0 0 0 0.004007 0 14 131 C9orf102 375748 broad.mit.edu 37 9 98691012 98691012 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:98691012G>A uc004avt.3 + 11 2038 c.1650G>A c.(1648-1650)GTG>GTA p.V550V C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V252V|C9orf102_uc010mry.1_Silent_p.V252V|C9orf102_uc010mrz.2_Silent_p.V361V|C9orf102_uc004avu.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 550 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TGCTTGACGTGCTACAGCAGT 0.393 NaN 0 0 0 0.007291 0 22 103 C9orf156 51531 broad.mit.edu 37 9 100667070 100667070 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:100667070G>A uc004axv.1 - 5 1348 c.1271C>T c.(1270-1272)TCT>TTT p.S424F C9orf156_uc004axw.1_Missense_Mutation_p.S321F|C9orf156_uc004axx.1_Missense_Mutation_p.S278F NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 424 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) AACAGGCTCAGAAGCCGGCTT 0.502 NaN 0 0 0 0.00245 0 14 109 PTPN3 5774 broad.mit.edu 37 9 112151539 112151539 + Silent SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:112151539A>G uc004bed.2 - 22 2339 c.2227T>C c.(2227-2229)TTG>CTG p.L743L PTPN3_uc004beb.2_Silent_p.L612L|PTPN3_uc004bec.2_Silent_p.L567L|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L698L|PTPN3_uc011lwh.1_Silent_p.L589L|PTPN3_uc011lwd.1_Silent_p.L211L|PTPN3_uc011lwe.1_Silent_p.L456L|PTPN3_uc011lwf.1_Silent_p.L411L NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 743 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 AGAGTCGTCAACATGACAATG 0.502 NaN 0 0 0 0.010729 0 9 74 PTPN3 5774 broad.mit.edu 37 9 112189306 112189306 + Nonsense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:112189306G>A uc004bed.2 - 12 1037 c.925C>T c.(925-927)CAG>TAG p.Q309* PTPN3_uc004beb.2_Nonsense_Mutation_p.Q178*|PTPN3_uc004bec.2_Nonsense_Mutation_p.Q178*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.Q309*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.Q200*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.Q22*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.Q22* NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 309 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 TTCTTTGCCTGAAAGAACGTA 0.448 NaN 0 0 0 0.001984 0 6 104 OR1L1 26737 broad.mit.edu 37 9 125424441 125424441 + Missense_Mutation SNP C C A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:125424441C>A uc011lza.1 + 1 597 c.597C>A c.(595-597)TTC>TTA p.F199L NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 199 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TTCTCTCCTTCTGCATTCCAC 0.463 NaN 1 0 6.4685e-43 0.01441 7.45105e-43 51 373 FUBP3 8939 broad.mit.edu 37 9 133506081 133506081 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:133506081C>T uc004bzr.1 + 13 1292 c.1184C>T c.(1183-1185)CCT>CTT p.P395L FUBP3_uc004bzs.1_Missense_Mutation_p.P308L NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 395 KH 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) AGGAACCCCCCTCCCAACAGC 0.587 NaN 0 0 0 0.000602 0 5 84 SLC2A6 11182 broad.mit.edu 37 9 136337170 136337170 + Silent SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:136337170G>A uc004cee.2 - 10 1592 c.1497C>T c.(1495-1497)CGC>CGT p.R499R SLC2A6_uc004cef.2_Silent_p.R437R|SLC2A6_uc004ceg.2_Silent_p.R476R NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 499 Cytoplasmic (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) TTCTCCCCGTGCGGAAGAAGG 0.627 NaN 0 0 0 0.001855 0 13 63 PMPCA 23203 broad.mit.edu 37 9 139306631 139306631 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:139306631G>C uc004chl.2 + 2 259 c.254G>C c.(253-255)GGA>GCA p.G85A SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.G85A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 85 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) AATAAGTTTGGACAGTTTTGT 0.423 NaN 0 0 0 0.004007 0 10 277 DYNLT3 6990 broad.mit.edu 37 X 37705596 37705596 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:37705596C>T uc004dds.2 - 2 172 c.46G>A c.(46-48)GAG>AAG p.E16K NM_006520 NP_006511 P51808 DYLT3_HUMAN dynein, light chain, Tctex-type 3 16 cell division|mitosis|regulation of mitotic cell cycle|transport condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane motor activity 0 TGGGCTTCCTCAGCATTGAAG 0.408 NaN 0 0 0 0.004482 0 6 21 USP9X 8239 broad.mit.edu 37 X 41075732 41075732 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:41075732A>G uc004dfb.2 + 35 6545 c.5912A>G c.(5911-5913)GAG>GGG p.E1971G USP9X_uc004dfc.2_Missense_Mutation_p.E1971G NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1971 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 TATATATCAGAGCTTGCTATC 0.398 NaN 0 0 0 0.00632 0 24 54 RLIM 51132 broad.mit.edu 37 X 73812092 73812092 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:73812092G>A uc004ebu.2 - 5 1348 c.1058C>T c.(1057-1059)ACT>ATT p.T353I RLIM_uc004ebw.2_Missense_Mutation_p.T353I NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 353 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ATAGGTGACAGTGTTGTTTGG 0.468 NaN 0 0 0 0.003163 0 14 44 BTK 695 broad.mit.edu 37 X 100617587 100617587 + Missense_Mutation SNP T T G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:100617587T>G uc004ehg.2 - 6 675 c.482A>C c.(481-483)AAT>ACT p.N161T BTK_uc010nnn.2_Missense_Mutation_p.N161T|BTK_uc010nno.2_Missense_Mutation_p.N195T|BTK_uc004ehi.2_Missense_Mutation_p.N161T NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 161 Btk-type. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 GCCCATAGCATTTTTGGCTGT 0.448 NaN Agammaglobulinemia_X-linked 0 0 0 0.01441 0 46 84 NGFRAP1 27018 broad.mit.edu 37 X 102632754 102632754 + Nonstop_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:102632754G>T uc004eki.2 + 3 717 c.335G>T c.(334-336)TGA>TTA p.*112L NGFRAP1_uc004ekh.2_Nonstop_Mutation_p.*102L|NGFRAP1_uc004ekj.1_Nonstop_Mutation_p.*112L NM_206915 NP_996798 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) 112 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding 0 CTTATGCCTTGACTCCTGCCA 0.418 NaN 1 0 3.09899e-07 0.004482 3.27916e-07 9 42 RGAG1 57529 broad.mit.edu 37 X 109697168 109697168 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:109697168C>G uc004eor.1 + 3 3569 c.3323C>G c.(3322-3324)TCT>TGT p.S1108C RGAG1_uc011msr.1_Missense_Mutation_p.S1108C NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1108 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCATCCACCTCTCACATTAAC 0.532 NaN 0 0 0 0.003163 0 14 112 BCORL1 63035 broad.mit.edu 37 X 129150054 129150054 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:129150054G>T uc004evb.1 + 4 3420 c.3306G>T c.(3304-3306)AAG>AAT p.K1102N BCORL1_uc010nrd.1_Missense_Mutation_p.K1004N NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1102 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TTGCTTGCAAGAACAAGTGGC 0.577 NaN 1 0 7.76418e-22 0.005443 8.85389e-22 21 58 AFF2 2334 broad.mit.edu 37 X 147743712 147743712 + Nonsense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:147743712C>G uc004fcp.2 + 3 943 c.464C>G c.(463-465)TCA>TGA p.S155* AFF2_uc004fco.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcq.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcr.2_Nonsense_Mutation_p.S151*|AFF2_uc011mxb.1_Nonsense_Mutation_p.S155*|AFF2_uc004fcs.2_Nonsense_Mutation_p.S151* NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 155 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AACAGAAAATCAAAACCTGAG 0.463 NaN 0 0 0 0.00333 0 23 173 L1CAM 3897 broad.mit.edu 37 X 153128264 153128264 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:153128264C>T uc004fjb.2 - 28 3736 c.3628G>A c.(3628-3630)GAT>AAT p.D1210N L1CAM_uc004fjc.2_Missense_Mutation_p.D1206N|L1CAM_uc010nuo.2_Missense_Mutation_p.D1201N NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1210 Cytoplasmic (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCCATAATCGGCCAGGCTG 0.597 NaN 0 0 0 0.014323 0 18 42 ZMPSTE24 10269 broad.mit.edu 37 1 40737578 40737587 + Frame_Shift_Del DEL ATCTATGCTG ATCTATGCTG - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:40737578_40737587delATCTATGCTG uc001cfg.2 + 6 851_860 c.640_649delATCTATGCTG c.(640-651)ATCTATGCTGATfs p.I214fs NM_005857 NP_005848 O75844 FACE1_HUMAN zinc metallopeptidase STE24 214_217 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity 0 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTGTCACAATCTATGCTGATTATATTGC 0.3 NaN NaN NaN NaN NaN NaN 11 173 --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:152127881_152127884delTGTC uc001ezs.1 - 3 1756_1759 c.1691_1694delGACA c.(1690-1695)AGACAAfs p.R564fs NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 564_565 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 NaN NaN NaN NaN NaN NaN 7 1314 --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr1:161254154_161254156delGGA uc001gad.2 + 3 338_340 c.90_92delGGA c.(88-93)GCGGAG>GCG p.E35del NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 35 0 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 NaN NaN NaN NaN NaN NaN 8 287 --- --- HMX3 340784 broad.mit.edu 37 10 124895626 124895627 + Frame_Shift_Ins INS - - C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr10:124895626_124895627insC uc010quc.1 + 1 60_61 c.60_61insC c.(58-63)CCGCCCfs p.P20fs NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 20_21 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AACCGCCGCCGCCCCCCCCACC 0.748 NaN NaN NaN NaN NaN NaN 2 4 --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 AGG - AGG AGG Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr12:56558379_56558381delAGG uc001skb.2 - 27 3380_3382 c.3274_3276delCCT c.(3274-3276)CCTdel p.P1092del SMARCC2_uc001skd.2_Intron|SMARCC2_uc001ska.2_Intron|SMARCC2_uc001skc.2_Intron|SMARCC2_uc010sqf.1_Intron NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 1092 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 NaN NaN NaN NaN NaN NaN 9 76 --- --- PDZD9 255762 broad.mit.edu 37 16 21995741 21995750 + Frame_Shift_Del DEL TTTCTTGTCG TTTCTTGTCG - rs146108684 byFrequency TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr16:21995741_21995750delTTTCTTGTCG uc002dka.1 - 5 764_773 c.447_456delCGACAAGAAA c.(445-456)GACGACAAGAAAfs p.D149fs NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN hypothetical protein LOC255762 211_214 pancreas(1) 1 CCCTCACTTCTTTCTTGTCGTCTCTGTGAA 0.433 NaN NaN NaN NaN NaN NaN 13 219 --- --- RICH2 9912 broad.mit.edu 37 17 12888211 12888211 + Frame_Shift_Del DEL A A - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr17:12888211delA uc002gnr.3 + 20 2630 c.2303delA c.(2302-2304)GAAfs p.E768fs RICH2_uc010vvk.1_Frame_Shift_Del_p.E768fs|RICH2_uc010vvl.1_Frame_Shift_Del_p.E762fs|RICH2_uc002gns.3_Frame_Shift_Del_p.E562fs|RICH2_uc010vvm.1_Frame_Shift_Del_p.E762fs|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 768 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 TCCCCTGGGGAAAGCATGTCT 0.537 NaN NaN NaN NaN NaN NaN 11 58 --- --- KPTN 11133 broad.mit.edu 37 19 47984066 47984066 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr19:47984066delC uc002pgy.2 - 6 654 c.550delG c.(550-552)GAAfs p.E184fs KPTN_uc010xys.1_RNA NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 184 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) ACGGGCTGTTCCTCAAACTGA 0.602 NaN NaN NaN NaN NaN NaN 27 327 --- --- NCF4 4689 broad.mit.edu 37 22 37261076 37261080 + Frame_Shift_Del DEL AGAGC AGAGC - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr22:37261076_37261080delAGAGC uc003apy.3 + 3 417_421 c.233_237delAGAGC c.(232-237)AAGAGCfs p.K78fs NCF4_uc003apz.3_Frame_Shift_Del_p.K78fs NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 78_79 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 CCAGACAGCAAGAGCAGTGCCCTGG 0.62 NaN NaN NaN NaN NaN NaN 18 136 --- --- PBRM1 55193 broad.mit.edu 37 3 52643634 52643634 + Frame_Shift_Del DEL T T - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:52643634delT uc003des.2 - 16 2274 c.2262delA c.(2260-2262)AAAfs p.K754fs PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K722fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.K754fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K667fs|PBRM1_uc003dfa.1_Frame_Shift_Del_p.K100fs|PBRM1_uc003dfc.2_Frame_Shift_Del_p.K121fs NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 754 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CAAGCAGGACTTTGTGTAGAA 0.418 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast NaN NaN NaN NaN NaN 8 113 --- --- ITIH1 3697 broad.mit.edu 37 3 52814364 52814364 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:52814364delC uc003dfs.2 + 6 677 c.653delC c.(652-654)GCCfs p.A218fs ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 218 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GAACTGGCAGCCCAAACTATC 0.527 NaN NaN NaN NaN NaN NaN 7 41 --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr3:129370576_129370578delCTG uc003emz.3 - 7 2209_2211 c.1708_1710delCAG c.(1708-1710)CAGdel p.Q570del TMCC1_uc003emy.3_In_Frame_Del_p.Q246del|TMCC1_uc011blc.1_In_Frame_Del_p.Q391del|TMCC1_uc010htg.2_In_Frame_Del_p.Q456del NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 Potential. integral to membrane skin(1) 1 GCTGCACCACCTGCTGCTGCTGC 0.581 NaN NaN NaN NaN NaN NaN 8 164 --- --- MFSD8 256471 broad.mit.edu 37 4 128865042 128865060 + Frame_Shift_Del DEL GTCTATAATTAGACCATAA GTCTATAATTAGACCATAA - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr4:128865042_128865060delGTCTATAATTAGACCATAA uc003ifp.2 - 5 449_467 c.286_304delTTATGGTCTAATTATAGAC c.(286-306)TTATGGTCTAATTATAGACCAfs p.L96fs MFSD8_uc011cgu.1_Frame_Shift_Del_p.L51fs|MFSD8_uc011cgv.1_Frame_Shift_Del_p.L96fs|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Frame_Shift_Del_p.L51fs NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 96_102 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 TCTTTTCTTGGTCTATAATTAGACCATAAACCAAATATA 0.402 NaN NaN NaN NaN NaN NaN 11 109 --- --- TBC1D9B 23061 broad.mit.edu 37 5 179294465 179294465 + Frame_Shift_Del DEL A A - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr5:179294465delA uc003mlh.2 - 19 2931 c.2894delT c.(2893-2895)TTCfs p.F965fs TBC1D9B_uc003mli.2_Intron|TBC1D9B_uc003mlj.2_Intron|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Intron|TBC1D9B_uc011dgv.1_Intron|TBC1D9B_uc011dgw.1_Frame_Shift_Del_p.F235fs NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 965 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGGCAGGAAAAGATCCAG 0.597 NaN NaN NaN NaN NaN NaN 5 9 --- --- ZNF318 24149 broad.mit.edu 37 6 43305708 43305708 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:43305708delC uc003oux.2 - 10 6106 c.6028delG c.(6028-6030)GAGfs p.E2010fs ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2010 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCAGTAAGCTCCTCTACCTTT 0.473 NaN NaN NaN NaN NaN NaN 8 109 --- --- HTR1E 3354 broad.mit.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr6:87725847delC uc003pli.2 + 2 1498 c.795delC c.(793-795)ATCfs p.I265fs NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 265 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCATCAGGATCCCCCCCTTCG 0.512 NaN NaN NaN NaN NaN NaN 7 322 --- --- BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - - GGC TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr8:65493617_65493618insGGC uc003xvi.2 + 1 804_805 c.270_271insGGC c.(268-273)insGGC p.97_98insG LOC401463_uc003xvh.2_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 97_98 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 gcgcgggaagtggcggcggcgg 0.584 NaN NaN NaN NaN NaN NaN 2 4 --- --- SURF6 6838 broad.mit.edu 37 9 136201230 136201234 + Frame_Shift_Del DEL GCAGG GCAGG - rs35975060 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:136201230_136201234delGCAGG uc004cdb.3 - 2 376_380 c.298_302delCCTGC c.(298-303)CCTGCAfs p.P100fs NM_006753 NP_006744 O75683 SURF6_HUMAN surfeit 6 100_101 granular component DNA binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) CCTCTCACCTGCAGGGTTCCCTGCT 0.605 NaN NaN NaN NaN NaN NaN 7 50 --- --- SURF1 6834 broad.mit.edu 37 9 136220674 136220682 + In_Frame_Del DEL CCTCCCGGG CCTCCCGGG - rs151258319 TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chr9:136220674_136220682delCCTCCCGGG uc004cdh.1 - 5 469_477 c.437_445delCCCGGGAGG c.(436-447)GCCCGGGAGGGC>GGC p.ARE146del SURF1_uc004cdg.1_In_Frame_Del_p.ARE37del|SURF2_uc004cdi.2_5'Flank NM_003172 NP_003163 Q15526 SURF1_HUMAN surfeit 1 146_148 aerobic respiration|respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity breast(2) 2 OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05) ATGAGGCCGCCCTCCCGGGCCTCCCGGAC 0.598 NaN NaN NaN NaN NaN NaN 33 331 --- --- TFE3 7030 broad.mit.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad38e8e-e63e-41d9-9216-617be7fa1d75 eb8ecd73-a631-4193-a59a-d841e08d51e9 g.chrX:48887952delC uc004dmb.3 - 10 1683 c.1445delG c.(1444-1446)GGAfs p.G482fs TFE3_uc004dmc.3_Frame_Shift_Del_p.G377fs NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 CTGGGCAGGTCCCCCCCCTAC 0.647 NaN T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal NaN NaN NaN NaN NaN 40 122 --- ---