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 FAM132A 388581 broad.mit.edu 37 1 1179861 1179861 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:1179861C>T uc001adl.1 - 2 226 c.194G>A c.(193-195)GGA>GAA p.G65E NM_001014980 NP_001014980 Q5T7M4 F132A_HUMAN family with sequence similarity 132, member A 65 extracellular region 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAACTCAGGTCCTGAGGCCTG 0.672 NaN 0 0 0 0.008871 0 16 81 KIAA0495 57212 broad.mit.edu 37 1 3662532 3662532 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:3662532G>A uc009vlm.2 - 1 1355 c.236C>T c.(235-237)TCT>TTT p.S79F KIAA0495_uc001akt.3_RNA NM_207306 NP_997189 hypothetical protein LOC57212 precursor 0 all_cancers(77;0.0338)|Ovarian(185;0.0634)|Lung NSC(156;0.172)|all_lung(157;0.182) all_epithelial(116;1.83e-21)|all_lung(118;2e-08)|Lung NSC(185;7.5e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;1.27e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.204) GGTGGAGGCAGATGGTGTTGC 0.592 NaN 0 0 0 0.00361 0 40 190 DFFA 1676 broad.mit.edu 37 1 10523212 10523212 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:10523212C>G uc001arj.2 - 5 784 c.686G>C c.(685-687)AGA>ACA p.R229T DFFA_uc001ark.2_Missense_Mutation_p.R229T NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 229 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GGAGGTCTCTCTGCTGATACC 0.557 NaN 0 0 0 0.008291 0 9 66 MFN2 9927 broad.mit.edu 37 1 12061571 12061571 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:12061571C>G uc001atn.3 + 9 1383 c.930C>G c.(928-930)CTC>CTG p.L310L MFN2_uc009vni.2_Silent_p.L310L NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 310 Cytoplasmic (Potential). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) AGGAGGTGCTCAACGCCAGGA 0.532 NaN OREG0013107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 7 30 TNFRSF8 943 broad.mit.edu 37 1 12175755 12175755 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:12175755C>G uc001atq.2 + 8 1137 c.915C>G c.(913-915)ATC>ATG p.I305M TNFRSF8_uc010obc.1_Missense_Mutation_p.I194M NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 305 Extracellular (Potential).|TNFR-Cys 6. cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CCTACCCAATCTGTGCAGCAG 0.627 NaN 0 0 0 0.004482 0 9 65 VPS13D 55187 broad.mit.edu 37 1 12322040 12322040 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:12322040G>A uc001atv.2 + 13 1638 c.1497G>A c.(1495-1497)CTG>CTA p.L499L VPS13D_uc001atw.2_Silent_p.L499L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 499 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) TTGCCAAACTGAATTTGCAGT 0.448 NaN 0 0 0 0.006122 0 14 87 VPS13D 55187 broad.mit.edu 37 1 12339681 12339681 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:12339681G>A uc001atv.2 + 20 4717 c.4576G>A c.(4576-4578)GAA>AAA p.E1526K VPS13D_uc001atw.2_Missense_Mutation_p.E1526K|VPS13D_uc001atx.2_Missense_Mutation_p.E714K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1526 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) CATGAAGATTGAAGGAAAATT 0.333 NaN 0 0 0 0.008291 0 8 45 KAZ 23254 broad.mit.edu 37 1 14925613 14925613 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:14925613G>C uc001avm.3 + 1 401 c.120G>C c.(118-120)CTG>CTC p.L40L KAZ_uc009vog.1_Silent_p.L40L|KAZ_uc010obj.1_Silent_p.L40L NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 40 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 TGGCGGAACTGAgcggcggcg 0.468 NaN 0 0 0 0.001168 0 6 43 RSC1A1 6248 broad.mit.edu 37 1 15986462 15986462 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:15986462C>G uc010obn.1 + 1 99 c.99C>G c.(97-99)GTC>GTG p.V33V DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 33 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCGCTCTGTCTCTGCTTCAG 0.478 NaN 0 0 0 0.009718 0 33 183 RSC1A1 6248 broad.mit.edu 37 1 15986581 15986581 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:15986581C>A uc010obn.1 + 1 218 c.218C>A c.(217-219)TCT>TAT p.S73Y DDI2_uc001awx.1_3'UTR|DDI2_uc009voj.1_3'UTR NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 73 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAACATCTTTCTTTACAAGAT 0.428 NaN 1 0 9.31168e-06 0.001855 9.66208e-06 11 52 RSC1A1 6248 broad.mit.edu 37 1 15987253 15987253 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:15987253C>A uc010obn.1 + 1 890 c.890C>A c.(889-891)TCA>TAA p.S297* NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 297 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGTAACCCTTCATCTGAAATT 0.383 NaN 1 0 0.000157383 0.00308 0.000161752 6 44 RSC1A1 6248 broad.mit.edu 37 1 15987441 15987441 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:15987441C>T uc010obn.1 + 1 1078 c.1078C>T c.(1078-1080)CAT>TAT p.H360Y NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 360 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAAAGAACTTCATGAACTTTT 0.438 NaN 0 0 0 0.008291 0 7 25 PLEKHM2 23207 broad.mit.edu 37 1 16053943 16053943 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:16053943C>T uc010obo.1 + 9 1603 c.1376C>T c.(1375-1377)TCA>TTA p.S459L NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 459 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GAGGGGCTTTCAGCCCCAATG 0.632 NaN 0 0 0 0.001168 0 4 6 HTR6 3362 broad.mit.edu 37 1 20005075 20005075 + Missense_Mutation SNP C C A rs61751019 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:20005075C>A uc001bcl.2 + 2 1197 c.730C>A c.(730-732)CGC>AGC p.R244S NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 244 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CAGGACCCCACGCCCAGGGGT 0.532 NaN 1 0 6.21321e-17 0.00278 6.68243e-17 17 126 CDA 978 broad.mit.edu 37 1 20944968 20944968 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:20944968C>T uc001bdk.2 + 4 527 c.348C>T c.(346-348)TAC>TAT p.Y116Y CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA NM_001785 NP_001776 P32320 CDD_HUMAN cytidine deaminase 116 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GGCCCGTGTACATGACCAAGC 0.373 NaN 0 0 0 0.004482 0 5 37 USP48 84196 broad.mit.edu 37 1 22074665 22074665 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:22074665G>C uc001bfb.2 - 7 1112 c.874C>G c.(874-876)CTG>GTG p.L292V USP48_uc010odq.1_Missense_Mutation_p.L292V|USP48_uc009vqc.2_Missense_Mutation_p.L292V|USP48_uc001bfc.2_Missense_Mutation_p.L292V|USP48_uc001bfe.1_Missense_Mutation_p.L292V|USP48_uc001bff.2_Missense_Mutation_p.L292V NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 292 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TGCAAGTTCAGAGTGCAAGGA 0.378 NaN 0 0 0 0.001368 0 9 60 TCEB3 6924 broad.mit.edu 37 1 24077712 24077712 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:24077712C>T uc001bho.2 + 4 755 c.695C>T c.(694-696)TCA>TTA p.S232L NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 232 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CCCATTGTTTCACACCAGAAG 0.552 NaN OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 9 93 TCEB3 6924 broad.mit.edu 37 1 24078045 24078045 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:24078045C>G uc001bho.2 + 4 1088 c.1028C>G c.(1027-1029)TCA>TGA p.S343* NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 343 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TTGCCTCCCTCAGAGGCCGCT 0.522 NaN OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 40 GPN2 54707 broad.mit.edu 37 1 27216180 27216180 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:27216180G>A uc001bnd.1 - 1 690 c.408C>T c.(406-408)CTC>CTT p.L136L NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN ATP binding domain 1 family, member B 136 GTP binding 0 GACGCACCCTGAGGTCCCACT 0.413 NaN 0 0 0 0.005443 0 23 164 FGR 2268 broad.mit.edu 37 1 27950379 27950379 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:27950379C>A uc001boj.2 - 1 195 c.49G>T c.(49-51)GAG>TAG p.E17* FGR_uc001bok.2_Nonsense_Mutation_p.E17*|FGR_uc001bol.2_Nonsense_Mutation_p.E17*|FGR_uc001bom.2_Nonsense_Mutation_p.E17* NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 17 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCAGCATCCTCCTTGGCCGTG 0.602 NaN 1 0 0.000308642 0.003163 0.000316957 13 72 XKR8 55113 broad.mit.edu 37 1 28290051 28290051 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:28290051G>C uc001bph.1 + 2 414 c.337G>C c.(337-339)GAG>CAG p.E113Q NM_018053 NP_060523 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related 113 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) GTGGCAGCAGGAGGAGCCCTC 0.612 NaN 0 0 0 0.00499 0 15 103 EYA3 2140 broad.mit.edu 37 1 28365386 28365386 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:28365386G>T uc001bpi.1 - 5 353 c.188C>A c.(187-189)TCA>TAA p.S63* EYA3_uc010ofs.1_Nonsense_Mutation_p.S10*|EYA3_uc010oft.1_Nonsense_Mutation_p.S63*|EYA3_uc001bpj.2_Nonsense_Mutation_p.S63*|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 63 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) ATCATTGGATGAGCGAGGGAT 0.318 NaN 1 0 9.31168e-06 0.001855 9.66208e-06 8 76 GMEB1 10691 broad.mit.edu 37 1 29030720 29030720 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:29030720C>T uc001bra.2 + 8 915 c.777C>T c.(775-777)TTC>TTT p.F259F GMEB1_uc001bqz.2_Silent_p.F249F|GMEB1_uc001brb.2_Silent_p.F249F NM_006582 NP_006573 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CTTTGATGTTCTGGAAAGGAA 0.433 NaN 0 0 0 0.001168 0 6 109 KHDRBS1 10657 broad.mit.edu 37 1 32502561 32502561 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:32502561G>C uc001bub.2 + 5 928 c.822G>C c.(820-822)TTG>TTC p.L274F KHDRBS1_uc001bua.1_Missense_Mutation_p.L235F|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 274 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGTCCTACTTGAATGGAGTAC 0.493 NaN 0 0 0 0.00333 0 22 150 TRIM62 55223 broad.mit.edu 37 1 33613176 33613176 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:33613176C>A uc001bxb.2 - 5 1668 c.1030G>T c.(1030-1032)GAA>TAA p.E344* NM_018207 NP_060677 Q9BVG3 TRI62_HUMAN tripartite motif-containing 62 344 B30.2/SPRY. intracellular zinc ion binding 0 Myeloproliferative disorder(586;0.0393) CTGAAGGCTTCAGAACCCAGC 0.622 NaN 1 0 0.00829132 0.008291 0.00844776 7 81 KIAA0319L 79932 broad.mit.edu 37 1 35916018 35916018 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:35916018C>T uc001byx.2 - 14 2413 c.2155G>A c.(2155-2157)GAT>AAT p.D719N KIAA0319L_uc001byw.2_Missense_Mutation_p.D161N|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D361N NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 719 PKD 5.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCTTGTCATCTGAGGACTTA 0.512 NaN 0 0 0 0.001855 0 13 116 COL8A2 1296 broad.mit.edu 37 1 36564281 36564281 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:36564281C>G uc001bzv.1 - 2 1008 c.1001G>C c.(1000-1002)GGA>GCA p.G334A COL8A2_uc001bzw.1_Missense_Mutation_p.G269A NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 334 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCCCAAGAGTCCTGGGACCCC 0.721 NaN 0 0 0 0.001168 0 4 40 COL8A2 1296 broad.mit.edu 37 1 36564306 36564306 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:36564306C>G uc001bzv.1 - 2 983 c.976G>C c.(976-978)GAC>CAC p.D326H COL8A2_uc001bzw.1_Missense_Mutation_p.D261H NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 326 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGCCCCTGTCCCCCTTGGGG 0.726 NaN 0 0 0 0.000602 0 3 32 CSF3R 1441 broad.mit.edu 37 1 36939118 36939118 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:36939118C>G uc001caw.1 - 6 769 c.591G>C c.(589-591)CAG>CAC p.Q197H CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.Q197H|CSF3R_uc001cax.1_Missense_Mutation_p.Q197H|CSF3R_uc001cay.1_Missense_Mutation_p.Q197H NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 197 Fibronectin type-III 1.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGCCCATATTCTGGTACAACA 0.597 NaN 0 0 0 0.008361 0 30 164 GRIK3 2899 broad.mit.edu 37 1 37271815 37271815 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:37271815G>A uc001caz.2 - 14 2339 c.2204C>T c.(2203-2205)GCG>GTG p.A735V GRIK3_uc001cba.1_Missense_Mutation_p.A735V NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 735 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATGAGCAGCGCGTAGTCGGC 0.612 NaN 0 0 0 0.008871 0 16 170 GNL2 29889 broad.mit.edu 37 1 38041280 38041280 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:38041280C>T uc001cbk.2 - 10 1222 c.1059G>A c.(1057-1059)TTG>TTA p.L353L NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 353 G. ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) TCCGACGCATCAAAGTAATAT 0.438 NaN 0 0 0 0.001855 0 10 67 SF3A3 10946 broad.mit.edu 37 1 38446330 38446330 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:38446330C>G uc001cci.2 - 8 742 c.618G>C c.(616-618)CAG>CAC p.Q206H SF3A3_uc010oik.1_Missense_Mutation_p.Q153H NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 206 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAAGTTCATTCTGATCTTGGA 0.458 NaN 0 0 0 0.006214 0 7 77 POU3F1 5453 broad.mit.edu 37 1 38511339 38511339 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:38511339G>C uc001ccp.1 - 1 1112 c.1077C>G c.(1075-1077)CTC>CTG p.L359L NM_002699 NP_002690 Q03052 PO3F1_HUMAN POU domain, class 3, transcription factor 1 359 Homeobox. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGGGGCACTTGAGAAAGTGGC 0.662 NaN 0 0 0 0.008291 0 8 37 KIAA0754 643314 broad.mit.edu 37 1 39876717 39876717 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:39876717G>A uc009vvt.1 + 1 1542 c.780G>A c.(778-780)CCG>CCA p.P260P MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 124 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) CAACCTGGCCGAGGGCCACAA 0.522 NaN OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 17 ZNF642 339559 broad.mit.edu 37 1 40945004 40945004 + Splice_Site SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:40945004G>C uc001cfo.2 + 2 266 c.-28_splice c.e2-1 ZNF642_uc009vwb.2_5'UTR|ZNF642_uc010ojk.1_Splice_Site NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TTCCTCACCAGAAGTGGACAA 0.547 NaN 0 0 0 0.009718 0 32 162 ZNF684 127396 broad.mit.edu 37 1 41012608 41012608 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:41012608C>T uc001cft.1 + 5 864 c.613C>T c.(613-615)CAT>TAT p.H205Y NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 205 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) CCTTGCAACTCATCAGAAAAT 0.408 NaN 0 0 0 0.004482 0 8 65 WDR65 149465 broad.mit.edu 37 1 43675708 43675708 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:43675708C>T uc001cip.1 + 11 2171 c.2050C>T c.(2050-2052)CAT>TAT p.H684Y EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Intron|WDR65_uc001ciq.1_Missense_Mutation_p.H684Y NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 Error:Variant_position_missing_in_Q96MR6_after_alignment skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATTCATCCATCATTCATTGAA 0.279 NaN 0 0 0 0.001168 0 5 52 SLC6A9 6536 broad.mit.edu 37 1 44474107 44474107 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:44474107G>A uc001cll.2 - 5 919 c.727C>T c.(727-729)CGG>TGG p.R243W SLC6A9_uc009vxe.2_Missense_Mutation_p.R99W|SLC6A9_uc010okm.1_Missense_Mutation_p.R170W|SLC6A9_uc001clm.2_Missense_Mutation_p.R189W|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.R174W|SLC6A9_uc001cln.2_Missense_Mutation_p.R170W|SLC6A9_uc010oko.1_Missense_Mutation_p.R59W|SLC6A9_uc010okp.1_RNA NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 243 Extracellular (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCGGCTGGCCGAGAGCCATTG 0.642 NaN 0 0 0 0.004656 0 20 147 PTCH2 8643 broad.mit.edu 37 1 45293690 45293690 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:45293690G>A uc010olf.1 - 14 1895 c.1883C>T c.(1882-1884)TCT>TTT p.S628F PTCH2_uc010olg.1_Missense_Mutation_p.S326F NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 628 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CAGTGGGTCAGAAGGTGGGGG 0.622 NaN Basal_Cell_Nevus_syndrome 0 0 0 0.002299 0 20 105 DMBX1 127343 broad.mit.edu 37 1 46972824 46972824 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:46972824G>A uc001cpx.2 + 1 157 c.142G>A c.(142-144)GAG>AAG p.E48K DMBX1_uc001cpw.2_Missense_Mutation_p.E48K NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 48 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TACATTGGCTGAGCGCCTGGC 0.637 NaN 0 0 0 0.008291 0 10 40 SPATA6 54558 broad.mit.edu 37 1 48918750 48918750 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:48918750G>A uc001crr.1 - 2 270 c.105C>T c.(103-105)ATC>ATT p.I35I SPATA6_uc001crs.1_Silent_p.I35I|SPATA6_uc010omv.1_Silent_p.I35I|SPATA6_uc001crt.2_5'UTR NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 35 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 CAAACACACAGATGCTAAGAT 0.393 NaN 0 0 0 0.010729 0 8 64 ZFYVE9 9372 broad.mit.edu 37 1 52704969 52704969 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:52704969C>T uc001cto.2 + 4 2052 c.1880C>T c.(1879-1881)TCA>TTA p.S627L ZFYVE9_uc001ctn.2_Missense_Mutation_p.S627L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S627L NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 627 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 GGGGAAAACTCAGCAACCAAT 0.358 NaN 0 0 0 0.00245 0 12 74 C1orf175 374977 broad.mit.edu 37 1 55119580 55119580 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:55119580G>A uc010ooe.1 + 3 1305 c.981G>A c.(979-981)ATG>ATA p.M327I C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.M327I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.M327I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 327 Ser-rich. integral to membrane binding 0 CCTCATGCATGACTCTAATCC 0.562 NaN 0 0 0 0.010504 0 10 167 C1orf175 374977 broad.mit.edu 37 1 55139782 55139782 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:55139782G>A uc010ooe.1 + 10 2218 c.1894G>A c.(1894-1896)GAC>AAC p.D632N C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.D200N|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.D150N|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D632N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 632 integral to membrane binding 0 TGAGGCTCTGGACGGCATCAT 0.527 NaN 0 0 0 0.012319 0 19 148 TMEM61 199964 broad.mit.edu 37 1 55457567 55457567 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:55457567G>A uc001cyd.2 + 3 698 c.424G>A c.(424-426)GAG>AAG p.E142K NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN transmembrane protein 61 142 integral to membrane 0 CCCAGTGGCCGAGGGGCCCCC 0.647 NaN 0 0 0 0.010504 0 18 139 DOCK7 85440 broad.mit.edu 37 1 63005436 63005436 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:63005436G>A uc001daq.2 - 26 3207 c.3173C>T c.(3172-3174)TCA>TTA p.S1058L DOCK7_uc001dan.2_Missense_Mutation_p.S919L|DOCK7_uc001dao.2_Missense_Mutation_p.S919L|DOCK7_uc001dap.2_Missense_Mutation_p.S1027L|DOCK7_uc001dam.2_Missense_Mutation_p.S238L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1058 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CTGAAATCGTGAAACTATATC 0.343 NaN 0 0 0 0.004672 0 3 23 JAK1 3716 broad.mit.edu 37 1 65303766 65303766 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:65303766G>A uc001dbu.1 - 22 3238 c.2989C>T c.(2989-2991)CGG>TGG p.R997W JAK1_uc009wam.1_Missense_Mutation_p.R985W|JAK1_uc009wal.1_Missense_Mutation_p.R174W NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 997 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) ACGTATTGCCGAGAACCCAAA 0.398 NaN Mis ALL 0 0 0 0.001984 0 6 45 WLS 79971 broad.mit.edu 37 1 68564388 68564388 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:68564388G>A uc001dee.2 - 12 1830 c.1559C>T c.(1558-1560)TCG>TTG p.S520L uc001deb.1_RNA|uc001dec.1_RNA NM_001002292 NP_001002292 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 2 Error:Variant_position_missing_in_Q5T9L3_after_alignment multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 ataaagttccgaaacaaacaa 0 NaN 0 0 0 0.000602 0 3 44 FUBP1 8880 broad.mit.edu 37 1 78444569 78444569 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:78444569C>T uc001dii.2 - 1 209 c.120G>A c.(118-120)CAG>CAA p.Q40Q FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.Q40Q|DNAJB4_uc010orn.1_5'Flank NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 40 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 CCACACTTACCTGCCGGGCTC 0.498 NaN 0 0 0 0.00361 0 47 397 MCOLN3 55283 broad.mit.edu 37 1 85498382 85498382 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:85498382C>T uc001dkp.2 - 6 822 c.729G>A c.(727-729)CTG>CTA p.L243L MCOLN3_uc001dkq.2_Silent_p.L187L|MCOLN3_uc001dkr.2_Silent_p.L243L|MCOLN3_uc001dks.3_Silent_p.L88L NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 243 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) CACTTACAGTCAGAGTAAAGT 0.388 NaN 0 0 0 0.00361 0 33 252 ABCA4 24 broad.mit.edu 37 1 94568588 94568588 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:94568588G>C uc001dqh.2 - 5 657 c.553C>G c.(553-555)CAA>GAA p.Q185E ABCA4_uc010otn.1_Missense_Mutation_p.Q185E NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 185 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGACGGACTTGAGAGTTGATC 0.473 NaN 0 0 0 0.003271 0 29 200 PTBP2 58155 broad.mit.edu 37 1 97278438 97278438 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:97278438C>G uc001drq.2 + 12 1588 c.1342C>G c.(1342-1344)CAA>GAA p.Q448E PTBP2_uc001drn.2_Missense_Mutation_p.Q453E|PTBP2_uc001dro.2_Missense_Mutation_p.Q448E|PTBP2_uc010otz.1_Missense_Mutation_p.Q464E|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q396E|PTBP2_uc001drr.2_Missense_Mutation_p.Q453E|PTBP2_uc010oua.1_Missense_Mutation_p.Q456E|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q67E|PTBP2_uc001drt.2_Missense_Mutation_p.Q67E NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 448 nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) CAAAAATTTTCAAAACATTTT 0.358 NaN 0 0 0 0.009096 0 3 34 PTBP2 58155 broad.mit.edu 37 1 97278881 97278881 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:97278881C>G uc001drq.2 + 14 1762 c.1516C>G c.(1516-1518)CAG>GAG p.Q506E PTBP2_uc001drn.2_Missense_Mutation_p.Q512E|PTBP2_uc001dro.2_Missense_Mutation_p.Q507E|PTBP2_uc010otz.1_Missense_Mutation_p.Q523E|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.Q455E|PTBP2_uc001drr.2_Missense_Mutation_p.Q511E|PTBP2_uc010oua.1_Missense_Mutation_p.Q515E|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_Missense_Mutation_p.Q126E|PTBP2_uc001drt.2_Missense_Mutation_p.Q125E NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 506 RRM 4. nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGAAGCTATTCAGGCCTTGAT 0.348 NaN 0 0 0 0.004482 0 7 47 DPYD 1806 broad.mit.edu 37 1 97839142 97839142 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:97839142C>T uc001drv.2 - 16 2170 c.2033G>A c.(2032-2034)AGA>AAA p.R678K NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 678 Uracil binding (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCCCATTCCTCTTTCTCCCAT 0.453 NaN 0 0 0 0.004482 0 5 58 CCDC76 54482 broad.mit.edu 37 1 100613836 100613836 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:100613836G>A uc001dsv.2 + 10 1223 c.1204G>A c.(1204-1206)GAT>AAT p.D402N CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 402 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) AGAGCATGATGATGGAGGATA 0.388 NaN 0 0 0 0.004656 0 19 140 GPR88 54112 broad.mit.edu 37 1 101004982 101004982 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:101004982C>T uc001dth.2 + 2 864 c.460C>T c.(460-462)CAG>TAG p.Q154* NM_022049 NP_071332 Q9GZN0 GPR88_HUMAN G-protein coupled receptor 88 154 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) GGCGCTGTACCAGAGGCGCCA 0.756 NaN 0 0 0 0.004672 0 3 21 VCAM1 7412 broad.mit.edu 37 1 101194797 101194797 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:101194797C>G uc001dti.2 + 5 1183 c.1063C>G c.(1063-1065)CTG>GTG p.L355V VCAM1_uc001dtj.2_Intron|VCAM1_uc010ouj.1_Missense_Mutation_p.L293V NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 355 Ig-like C2-type 4.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGACAGCCCTCTGAGCGGGAA 0.527 NaN 0 0 0 0.004482 0 7 49 SLC30A7 148867 broad.mit.edu 37 1 101361836 101361836 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:101361836C>G uc001dtn.2 + 1 205 c.18C>G c.(16-18)ATC>ATG p.I6M EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Missense_Mutation_p.I6M NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 6 Cytoplasmic (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) CCCTGTCCATCAAAGACGATG 0.587 NaN 0 0 0 0.003163 0 12 95 S1PR1 1901 broad.mit.edu 37 1 101705413 101705413 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:101705413C>T uc001dud.2 + 2 1387 c.873C>T c.(871-873)TTC>TTT p.F291F S1PR1_uc009weg.2_Silent_p.F291F NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 291 Extracellular (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 ACATCCTCTTCAGAGCGGAGT 0.552 NaN 0 0 0 0.00361 0 54 468 AHCYL1 10768 broad.mit.edu 37 1 110555027 110555027 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:110555027G>A uc001dyx.2 + 4 787 c.420G>A c.(418-420)GAG>GAA p.E140E AHCYL1_uc010ovw.1_Silent_p.E93E|AHCYL1_uc001dyy.2_Silent_p.E93E|AHCYL1_uc010ovx.1_Silent_p.E93E NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 140 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) CTCAGGGGGAGAAGCCCTTGG 0.493 NaN 0 0 0 0.001368 0 9 76 SLC6A17 388662 broad.mit.edu 37 1 110716657 110716657 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:110716657C>G uc009wfq.2 + 4 968 c.507C>G c.(505-507)TTC>TTG p.F169L NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 169 Extracellular (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TCTATTTCTTCAAGTCCTTCC 0.577 NaN 0 0 0 0.007291 0 27 165 WNT2B 7482 broad.mit.edu 37 1 113058964 113058964 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:113058964C>T uc001ecb.2 + 3 1121 c.606C>T c.(604-606)TTC>TTT p.F202F WNT2B_uc001eca.2_Silent_p.F183F|WNT2B_uc009wgg.2_Silent_p.F110F NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 202 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAAGGCCTTCGTGGATGCCA 0.557 NaN 0 0 0 0.00245 0 13 108 SLC16A1 6566 broad.mit.edu 37 1 113464733 113464733 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:113464733C>T uc001ecx.2 - 3 1072 c.240G>A c.(238-240)GTG>GTA p.V80V SLC16A1_uc001ecy.2_Silent_p.V80V|SLC16A1_uc001ecz.2_Silent_p.V80V|AFARP1_uc001eda.1_5'Flank NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 80 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CATATTTATTCACCAGGATAC 0.403 NaN 0 0 0 0.000602 0 5 49 MAGI3 260425 broad.mit.edu 37 1 114133225 114133225 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:114133225C>G uc001edk.2 + 5 1064 c.883C>G c.(883-885)CTG>GTG p.L295V MAGI3_uc001edh.3_Missense_Mutation_p.L295V|MAGI3_uc001edi.3_Missense_Mutation_p.L295V|MAGI3_uc010owm.1_Missense_Mutation_p.L295V|MAGI3_uc001edj.2_Missense_Mutation_p.L16V NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 295 WW 1. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTGGAACCACTGCCCAAAAA 0.408 NaN 0 0 0 0.009096 0 4 40 HIPK1 204851 broad.mit.edu 37 1 114515811 114515811 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:114515811C>T uc001eem.2 + 16 3471 c.3310C>T c.(3310-3312)CAC>TAC p.H1104Y HIPK1_uc001een.2_Missense_Mutation_p.H1104Y|HIPK1_uc001eeo.2_Missense_Mutation_p.H730Y|HIPK1_uc001eep.2_Missense_Mutation_p.H710Y|HIPK1_uc001eeq.2_Missense_Mutation_p.H396Y NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 1104 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCCCCTGCTCACCTGCCAAG 0.627 NaN 0 0 0 0.00361 0 43 367 SIKE1 80143 broad.mit.edu 37 1 115319033 115319033 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:115319033C>T uc001efo.3 - 4 536 c.456G>A c.(454-456)ATG>ATA p.M152I SIKE1_uc001efp.3_Missense_Mutation_p.M156I NM_025073 NP_079349 Q9BRV8 SIKE1_HUMAN suppressor of IKK epsilon isoform 2 152 cytosol protein binding 0 CTGCTTTCCTCATCACTTCTC 0.363 NaN 0 0 0 0.006214 0 8 156 SIKE1 80143 broad.mit.edu 37 1 115319072 115319072 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:115319072C>G uc001efo.3 - 4 497 c.417G>C c.(415-417)GAG>GAC p.E139D SIKE1_uc001efp.3_Missense_Mutation_p.E143D NM_025073 NP_079349 Q9BRV8 SIKE1_HUMAN suppressor of IKK epsilon isoform 2 139 cytosol protein binding 0 CAATCTGACTCTCAATTTCCT 0.358 NaN 0 0 0 0.00308 0 6 101 ADAM30 11085 broad.mit.edu 37 1 120438390 120438390 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:120438390C>T uc001eij.2 - 1 724 c.570G>A c.(568-570)GCG>GCA p.A190A NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 190 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CCCTTAGCCTCGCCTTATTCT 0.408 NaN 0 0 0 0.001168 0 5 74 NBPF10 100132406 broad.mit.edu 37 1 145311808 145311808 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:145311808G>A uc001end.3 + 14 1911 c.1876G>A c.(1876-1878)GAG>AAG p.E626K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_5'UTR|NBPF10_uc010oyl.1_5'UTR|NBPF10_uc010oyj.1_5'UTR NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGCTGGATGAGAAAGGGCC 0.483 NaN 0 0 0 0.000602 0 4 33 PEX11B 8799 broad.mit.edu 37 1 145522591 145522591 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:145522591C>T uc001eny.1 + 4 470 c.452C>T c.(451-453)TCT>TTT p.S151F NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.S137F|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank NM_003846 NP_003837 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 151 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAAGAGTCTTCTGCTTGTAGC 0.527 NaN 0 0 0 0.00245 0 13 88 RNF115 27246 broad.mit.edu 37 1 145682086 145682086 + Silent SNP T T C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:145682086T>C uc001eoj.2 + 5 696 c.492T>C c.(490-492)CCT>CCC p.P164P NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.P131P|RNF115_uc009wiy.2_Silent_p.P83P NM_014455 NP_055270 Q9Y4L5 RN115_HUMAN Rabring 7 164 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 CTCCACACCCTTTTTCCTGGT 0.358 NaN 0 0 0 0.000602 0 3 130 RNF115 27246 broad.mit.edu 37 1 145687020 145687020 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:145687020G>A uc001eoj.2 + 8 916 c.712G>A c.(712-714)GAA>AAA p.E238K NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.E205K|RNF115_uc009wiy.2_Missense_Mutation_p.E157K NM_014455 NP_055270 Q9Y4L5 RN115_HUMAN Rabring 7 238 RING-type. protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 TTACACAGTTGAAGAGGAAGT 0.413 NaN 0 0 0 0.00499 0 13 130 RNF115 27246 broad.mit.edu 37 1 145687023 145687023 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:145687023G>A uc001eoj.2 + 8 919 c.715G>A c.(715-717)GAG>AAG p.E239K NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Missense_Mutation_p.E206K|RNF115_uc009wiy.2_Missense_Mutation_p.E158K NM_014455 NP_055270 Q9Y4L5 RN115_HUMAN Rabring 7 239 RING-type. protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 CACAGTTGAAGAGGAAGTCCG 0.428 NaN 0 0 0 0.004007 0 12 133 GPR89B 51463 broad.mit.edu 37 1 147400652 147400652 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:147400652G>C uc001epv.3 + 1 147 c.3G>C c.(1-3)ATG>ATC p.M1I GPR89B_uc010ozs.1_Missense_Mutation_p.M1I|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'Flank NM_016334 NP_057418 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89B 1 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(923;0.0276) ACTTCGCCATGAGTTTCCTGA 0.647 NaN 0 0 0 0.001368 0 11 121 NBPF14 25832 broad.mit.edu 37 1 148009410 148009410 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:148009410G>A uc001eqq.2 - 16 1914 c.1897C>T c.(1897-1899)CAG>TAG p.Q633* LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Nonsense_Mutation_p.Q206*|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 633 NBPF 7. cytoplasm ovary(1) 1 all_hematologic(923;0.032) CTGTAGGGCTGGCATGAGTCA 0.478 NaN 0 0 0 0.001368 0 8 393 HIST2H2AC 8338 broad.mit.edu 37 1 149858710 149858710 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:149858710G>T uc001etd.2 + 1 186 c.186G>T c.(184-186)GAG>GAT p.E62D HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 62 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TGACCGCCGAGATCCTGGAGC 0.672 NaN 1 0 1.15088e-07 0.004007 1.20577e-07 13 107 OTUD7B 56957 broad.mit.edu 37 1 149921589 149921589 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:149921589G>C uc001etn.2 - 9 1422 c.1066C>G c.(1066-1068)CAG>GAG p.Q356E NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 356 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) AAGTGGGCCTGATCATAGGCG 0.512 NaN 0 0 0 0.004482 0 7 91 OTUD7B 56957 broad.mit.edu 37 1 149921612 149921612 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:149921612G>T uc001etn.2 - 9 1399 c.1043C>A c.(1042-1044)TCC>TAC p.S348Y NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 348 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CACCAGAGGGGAGCGGTGACA 0.512 NaN 1 0 4.096e-09 0.001168 4.32634e-09 6 71 ECM1 1893 broad.mit.edu 37 1 150483939 150483939 + Missense_Mutation SNP G G A rs149230481 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:150483939G>A uc001eus.2 + 7 914 c.715G>A c.(715-717)GAA>AAA p.E239K ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.E268K|ECM1_uc001euv.2_Missense_Mutation_p.E266K|ECM1_uc009wlu.2_5'UTR NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 239 2 X approximate repeats.|1. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTAGTGGGAGGAAGCAATGAG 0.597 NaN 0 0 0 0.005443 0 23 219 BNIPL 149428 broad.mit.edu 37 1 151018574 151018574 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:151018574G>A uc001ewl.2 + 9 1143 c.970G>A c.(970-972)GAC>AAC p.D324N BNIPL_uc009wmi.2_Missense_Mutation_p.D242N|BNIPL_uc009wmj.2_RNA|C1orf56_uc001ewn.2_5'Flank NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 324 CRAL-TRIO. apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCGTTTTCTGGACAGCCTGGG 0.443 NaN 0 0 0 0.010729 0 8 61 S100A11 6282 broad.mit.edu 37 1 152006245 152006245 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152006245C>T uc001ezn.2 - 2 155 c.35G>A c.(34-36)CGG>CAG p.R12Q uc001ezm.1_Intron NM_005620 NP_005611 P31949 S10AB_HUMAN S100 calcium binding protein A11 12 negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction cytoplasm|nucleus|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding 0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTCGATGCACCGCTCAGTCTC 0.458 NaN 0 0 0 0.004482 0 8 90 HRNR 388697 broad.mit.edu 37 1 152193080 152193080 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152193080G>C uc001ezt.1 - 3 1101 c.1025C>G c.(1024-1026)TCA>TGA p.S342* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 342 3. 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) AGTCTGGCCTGAGCCAGACTC 0.582 NaN 0 0 0 0.00308 0 5 97 FLG 2312 broad.mit.edu 37 1 152279068 152279068 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152279068G>C uc001ezu.1 - 3 8330 c.8294C>G c.(8293-8295)TCC>TGC p.S2765C NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2765 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCATGGCGGGATCCTTGTCT 0.577 NaN Ichthyosis 0 0 0 0.011902 0 24 512 FLG 2312 broad.mit.edu 37 1 152279987 152279987 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152279987G>C uc001ezu.1 - 3 7411 c.7375C>G c.(7375-7377)CAG>GAG p.Q2459E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2459 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGTCCTGACCCTCTTGG 0.587 NaN Ichthyosis 0 0 0 0.00361 0 82 685 FLG2 388698 broad.mit.edu 37 1 152324509 152324509 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152324509C>T uc001ezw.3 - 3 5826 c.5753G>A c.(5752-5754)AGA>AAA p.R1918K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1918 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTTTGGTGTCTCTTGTGAAC 0.507 NaN 0 0 0 0.006122 0 17 199 FLG2 388698 broad.mit.edu 37 1 152325449 152325449 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152325449G>C uc001ezw.3 - 3 4886 c.4813C>G c.(4813-4815)CAA>GAA p.Q1605E uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1605 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCATGTTGAGATCCGGCT 0.512 NaN 0 0 0 0.00623 0 34 251 SPRR4 163778 broad.mit.edu 37 1 152944474 152944474 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152944474G>A uc001fav.1 + 2 171 c.108G>A c.(106-108)GAG>GAA p.E36E NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 36 Gln-rich. keratinization|peptide cross-linking cell cortex 0 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AATGTCAAGAGACATGTGCAC 0.498 NaN 0 0 0 0.012319 0 18 129 SPRR4 163778 broad.mit.edu 37 1 152944534 152944534 + Silent SNP G G A rs147360157 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:152944534G>A uc001fav.1 + 2 231 c.168G>A c.(166-168)CCG>CCA p.P56P NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 56 Gln-rich. keratinization|peptide cross-linking cell cortex 0 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AATGCCCACCGAAAGGCACCA 0.522 NaN 0 0 0 0.00499 0 15 151 KCNN3 3782 broad.mit.edu 37 1 154842073 154842073 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:154842073G>A uc001ffp.2 - 1 682 c.368C>T c.(367-369)TCC>TTC p.S123F KCNN3_uc009wox.1_Missense_Mutation_p.S123F NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 128 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TTGCCTGGAGGAAGGGTGGAG 0.642 NaN 0 0 0 0.010729 0 9 99 ZBTB7B 51043 broad.mit.edu 37 1 154987446 154987446 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:154987446G>C uc001fgk.3 + 3 468 c.310G>C c.(310-312)GAA>CAA p.E104Q ZBTB7B_uc009wpa.2_Missense_Mutation_p.E104Q|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E138Q|ZBTB7B_uc010peq.1_Missense_Mutation_p.E138Q|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E104Q NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 104 BTB. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CGCCCTCCTTGAATTTGCCTA 0.647 NaN 0 0 0 0.009096 0 4 53 ZBTB7B 51043 broad.mit.edu 37 1 154988052 154988052 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:154988052G>C uc001fgk.3 + 3 1074 c.916G>C c.(916-918)GAT>CAT p.D306H ZBTB7B_uc009wpa.2_Missense_Mutation_p.D306H|ZBTB7B_uc001fgj.3_Missense_Mutation_p.D340H|ZBTB7B_uc010peq.1_Missense_Mutation_p.D340H|ZBTB7B_uc001fgl.3_Missense_Mutation_p.D306H NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 306 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCTGGGCTCAGATGAGGATGC 0.622 NaN 0 0 0 0.004482 0 7 85 RUSC1 23623 broad.mit.edu 37 1 155292224 155292224 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:155292224C>T uc001fkj.2 + 2 889 c.660C>T c.(658-660)ATC>ATT p.I220I RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Silent_p.I220I|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 220 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) ATGGGAAAATCGACGCTGGGA 0.502 NaN 0 0 0 0.00308 0 6 61 ASH1L 55870 broad.mit.edu 37 1 155450002 155450002 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:155450002G>C uc009wqq.2 - 3 3139 c.2659C>G c.(2659-2661)CCA>GCA p.P887A ASH1L_uc001fkt.2_Missense_Mutation_p.P887A|ASH1L_uc009wqr.1_Missense_Mutation_p.P887A NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 887 A.T hook 1. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTCTTTTTTGGAAAAGGAGAC 0.443 NaN 0 0 0 0.006214 0 6 69 ASH1L 55870 broad.mit.edu 37 1 155450149 155450149 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:155450149G>C uc009wqq.2 - 3 2992 c.2512C>G c.(2512-2514)CAA>GAA p.Q838E ASH1L_uc001fkt.2_Missense_Mutation_p.Q838E|ASH1L_uc009wqr.1_Missense_Mutation_p.Q838E NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 838 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCTTCCAGTTGAGGCATCTCC 0.408 NaN 0 0 0 0.000602 0 4 49 YY1AP1 55249 broad.mit.edu 37 1 155631206 155631206 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:155631206C>T uc001fln.2 - 10 1050 c.1026G>A c.(1024-1026)AAG>AAA p.K342K YY1AP1_uc001flg.2_Silent_p.K81K|YY1AP1_uc010pgg.1_Silent_p.K181K|YY1AP1_uc010pgh.1_Silent_p.K285K|YY1AP1_uc010pgi.1_Silent_p.K434K|YY1AP1_uc001flh.2_Silent_p.K414K|YY1AP1_uc009wqt.2_Silent_p.K265K|YY1AP1_uc001flk.2_Silent_p.K285K|YY1AP1_uc001fll.2_Silent_p.K296K|YY1AP1_uc009wqv.2_Silent_p.K13K|YY1AP1_uc001flm.2_Silent_p.K285K|YY1AP1_uc001fli.2_Silent_p.K296K|YY1AP1_uc009wqu.2_Silent_p.K129K|YY1AP1_uc001flj.2_Silent_p.K276K|YY1AP1_uc009wqw.2_Silent_p.K265K|YY1AP1_uc001flo.2_Silent_p.K230K|YY1AP1_uc001flp.2_Silent_p.K296K|YY1AP1_uc010pgj.1_Silent_p.K362K|YY1AP1_uc009wqx.2_Silent_p.K434K NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 342 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GTTTGGTCTTCTTATAAAACT 0.453 NaN 0 0 0 0.003163 0 6 71 GON4L 54856 broad.mit.edu 37 1 155774800 155774800 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:155774800C>G uc001flz.2 - 11 1682 c.1585G>C c.(1585-1587)GAT>CAT p.D529H GON4L_uc001fly.1_Missense_Mutation_p.D529H|GON4L_uc009wrh.1_Missense_Mutation_p.D529H|GON4L_uc001fma.1_Missense_Mutation_p.D529H|GON4L_uc001fmc.2_Missense_Mutation_p.D529H|GON4L_uc001fmd.3_Missense_Mutation_p.D529H|GON4L_uc009wri.2_Missense_Mutation_p.D115H|GON4L_uc009wrj.1_Missense_Mutation_p.D44H|GON4L_uc001fme.2_Missense_Mutation_p.D357H|GON4L_uc001fmf.2_Missense_Mutation_p.D223H NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 529 Asp-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCCTCATCATCTGCCGTATTG 0.463 NaN 0 0 0 0.007291 0 23 222 MEF2D 4209 broad.mit.edu 37 1 156438787 156438787 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:156438787G>A uc001fpc.2 - 10 1422 c.1032C>T c.(1030-1032)CTC>CTT p.L344L MEF2D_uc001fpb.2_Silent_p.L337L|MEF2D_uc001fpd.2_Silent_p.L337L|MEF2D_uc001fpe.1_Silent_p.L344L|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 344 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTAAGGAGGAGAGCTCTGCAC 0.448 NaN 0 0 0 0.007413 0 13 91 GPATCH4 54865 broad.mit.edu 37 1 156565223 156565223 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:156565223C>T uc001fpm.2 - 8 949 c.910G>A c.(910-912)GAA>AAA p.E304K APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.E299K NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 299 intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCTCCTCTTCATGGTGCCAC 0.542 NaN 0 0 0 0.010818 0 29 196 HAPLN2 60484 broad.mit.edu 37 1 156594397 156594397 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:156594397G>A uc001fpn.1 + 6 968 c.561G>A c.(559-561)TGG>TGA p.W187* NM_021817 NP_068589 Q9GZV7 HPLN2_HUMAN brain link protein-1 precursor 187 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGCCAGCTTGGACCGAGGGTC 0.716 NaN 0 0 0 0.006214 0 6 77 NES 10763 broad.mit.edu 37 1 156642912 156642912 + Silent SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:156642912G>T uc001fpq.2 - 4 1201 c.1068C>A c.(1066-1068)CTC>CTA p.L356L NM_006617 NP_006608 P48681 NEST_HUMAN nestin 356 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGGTGAGGGGAGGGAAGTTG 0.602 NaN 1 0 6.40141e-05 0.010729 6.60002e-05 11 67 INSRR 3645 broad.mit.edu 37 1 156815422 156815422 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:156815422G>A uc010pht.1 - 10 2417 c.2163C>T c.(2161-2163)ATC>ATT p.I721I NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 721 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGATGGTGATCGCGTTGT 0.642 NaN 0 0 0 0.006214 0 9 85 NTRK1 4914 broad.mit.edu 37 1 156830838 156830838 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:156830838G>A uc001fqh.1 + 1 168 c.112G>A c.(112-114)GAT>AAT p.D38N NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc010pht.1_5'Flank|INSRR_uc009wsj.1_5'Flank|NTRK1_uc001fqi.1_Missense_Mutation_p.D38N|NTRK1_uc009wsk.1_Missense_Mutation_p.D38N NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 38 Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) ACCCTGCCCCGATGCCTGCTG 0.726 NaN T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 0 0 0 0.004482 0 7 22 SPTA1 6708 broad.mit.edu 37 1 158632519 158632519 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:158632519C>T uc001fst.1 - 17 2636 c.2437G>A c.(2437-2439)GAA>AAA p.E813K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 813 Spectrin 9. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GCTGAGGGTTCAGTCTCTTGG 0.512 NaN 0 0 0 0.006214 0 7 51 VANGL2 57216 broad.mit.edu 37 1 160389332 160389332 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:160389332C>T uc001fwb.1 + 5 1032 c.733C>T c.(733-735)CAG>TAG p.Q245* VANGL2_uc001fwc.1_Nonsense_Mutation_p.Q245* NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 245 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTCCAGCCTCAGTTCACGCT 0.647 NaN 0 0 0 0.009096 0 4 64 LY9 4063 broad.mit.edu 37 1 160793302 160793302 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:160793302G>C uc001fwu.2 + 8 1596 c.1546G>C c.(1546-1548)GAG>CAG p.E516Q LY9_uc001fwv.2_Missense_Mutation_p.E502Q|LY9_uc001fww.2_Missense_Mutation_p.E426Q|LY9_uc001fwx.2_Missense_Mutation_p.E426Q|LY9_uc001fwy.1_Missense_Mutation_p.E314Q|LY9_uc001fwz.2_Missense_Mutation_p.E154Q NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 516 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCAAGGATATGAGAAGCTGGA 0.552 NaN 0 0 0 0.004672 0 3 71 MPZ 4359 broad.mit.edu 37 1 161276525 161276525 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:161276525G>A uc001gaf.3 - 3 488 c.451C>T c.(451-453)CAG>TAG p.Q151* MPZ_uc010pko.1_RNA NM_000530 NP_000521 P25189 MYP0_HUMAN myelin protein zero 141 Ig-like V-type.|Extracellular (Potential). synaptic transmission integral to plasma membrane structural molecule activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGCGTGACCTGAGAGGTCTTG 0.507 NaN 0 0 0 0.003163 0 12 100 FCGR3B 2215 broad.mit.edu 37 1 161596168 161596168 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:161596168C>T uc009wul.2 - 4 618 c.344G>A c.(343-345)CGG>CAG p.R115Q NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 115 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAACACCCACCGAGGGGCCTG 0.562 NaN 0 0 0 0.001168 0 5 40 FCRLA 84824 broad.mit.edu 37 1 161681858 161681858 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:161681858G>A uc001gbe.2 + 5 945 c.703G>A c.(703-705)GAT>AAT p.D235N FCRLA_uc001gbd.2_Missense_Mutation_p.D229N|FCRLA_uc001gbf.2_Missense_Mutation_p.D140N|FCRLA_uc001gbg.2_Missense_Mutation_p.D89N|FCRLA_uc009wuo.2_Missense_Mutation_p.D95N|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 212 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CTTCTACAAGGATGGAAGGAT 0.562 NaN 0 0 0 0.004482 0 9 77 OLFML2B 25903 broad.mit.edu 37 1 161993194 161993194 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:161993194G>A uc001gbu.2 - 1 451 c.27C>T c.(25-27)CTC>CTT p.L9L OLFML2B_uc010pkq.1_Silent_p.L9L NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 9 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GAGCGAAGTAGAGAACTAGCA 0.632 NaN 0 0 0 0.001168 0 6 56 UAP1 6675 broad.mit.edu 37 1 162535885 162535885 + Silent SNP G G A rs151151506 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:162535885G>A uc001gce.3 + 2 356 c.27G>A c.(25-27)ACG>ACA p.T9T NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 9 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TCAAACTCACGTTGTCCAAAG 0.413 NaN 0 0 0 0.00245 0 10 90 POU2F1 5451 broad.mit.edu 37 1 167367230 167367230 + Splice_Site SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:167367230G>A uc001gec.2 + 12 1223 c.1061_splice c.e12-1 p.E354_splice POU2F1_uc001ged.2_Splice_Site_p.E352_splice|POU2F1_uc001gee.2_Splice_Site_p.E354_splice|POU2F1_uc010plh.1_Splice_Site_p.E291_splice|POU2F1_uc001gef.2_Splice_Site_p.E366_splice|POU2F1_uc001geg.2_Splice_Site_p.E252_splice|POU2F1_uc009wvg.1_5'Flank NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 CATTCTTACAGAGAACCTCTC 0.413 NaN 0 0 0 0.00308 0 6 26 RCSD1 92241 broad.mit.edu 37 1 167653186 167653186 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:167653186C>A uc001gem.2 + 2 243 c.56C>A c.(55-57)TCG>TAG p.S19* RCSD1_uc010pli.1_Nonsense_Mutation_p.S19* NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 19 ovary(2)|central_nervous_system(2)|skin(1) 5 all_hematologic(923;0.215) GCGTCCCCCTCGGTGGCCCAG 0.602 NaN 1 0 1.19403e-26 0.00361 1.29171e-26 47 376 ADCY10 55811 broad.mit.edu 37 1 167778974 167778974 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:167778974G>C uc001ger.2 - 33 5072 c.4774C>G c.(4774-4776)CAG>GAG p.Q1592E ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.Q1500E|ADCY10_uc010plj.1_Missense_Mutation_p.Q1439E NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1592 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 TGAAGATCCTGAATGTTTACC 0.373 NaN 0 0 0 0.009096 0 3 87 ADCY10 55811 broad.mit.edu 37 1 167849781 167849781 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:167849781G>A uc001ger.2 - 10 1385 c.1087C>T c.(1087-1089)CTG>TTG p.L363L ADCY10_uc009wvk.2_Silent_p.L271L|ADCY10_uc010plj.1_Silent_p.L210L|ADCY10_uc009wvl.2_Silent_p.L362L|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 363 Guanylate cyclase 2. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 GCACATTCCAGAGCATGAGTG 0.522 NaN 0 0 0 0.010729 0 12 93 SLC19A2 10560 broad.mit.edu 37 1 169437922 169437922 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:169437922C>G uc001gge.3 - 4 1387 c.1183G>C c.(1183-1185)GTC>CTC p.V395L SLC19A2_uc001ggf.3_Missense_Mutation_p.V194L NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 395 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) ATTCTGAAGACAACATAGGAT 0.383 NaN 0 0 0 0.00308 0 5 56 SLC19A2 10560 broad.mit.edu 37 1 169446801 169446801 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:169446801G>A uc001gge.3 - 2 603 c.399C>T c.(397-399)ATC>ATT p.I133I SLC19A2_uc001ggf.3_Intron NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 133 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) TGGCTGTGGCGATGCCATAAA 0.453 NaN 0 0 0 0.010729 0 10 94 F5 2153 broad.mit.edu 37 1 169512269 169512269 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:169512269C>T uc001ggg.1 - 13 2204 c.2059G>A c.(2059-2061)GAT>AAT p.D687N NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 687 cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCATCATCATCTGGGATACAT 0.398 NaN 0 0 0 0.001168 0 6 53 PRDX6 9588 broad.mit.edu 37 1 173454533 173454533 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:173454533G>A uc001giy.1 + 3 337 c.286G>A c.(286-288)GAA>AAA p.E96K NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 96 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 AGAGCCCACAGAAAAGTTACC 0.438 NaN 0 0 0 0.009096 0 3 37 GPR52 9293 broad.mit.edu 37 1 174417291 174417291 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:174417291G>T uc001gka.1 + 1 80 c.42G>T c.(40-42)ATG>ATT p.M14I RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 14 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 TCCTGAACATGAGCAGTGGCA 0.507 NaN 1 0 2.61681e-11 0.00245 2.77755e-11 12 91 TNN 63923 broad.mit.edu 37 1 175097777 175097777 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:175097777G>A uc001gkl.1 + 15 3338 c.3225G>A c.(3223-3225)CAG>CAA p.Q1075Q NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1075 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGTTCAGCAGAACAGCAATG 0.582 NaN 0 0 0 0.00361 0 80 197 TNR 7143 broad.mit.edu 37 1 175372540 175372540 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:175372540C>T uc001gkp.1 - 2 793 c.712G>A c.(712-714)GAC>AAC p.D238N TNR_uc009wwu.1_Missense_Mutation_p.D238N|TNR_uc010pmz.1_Missense_Mutation_p.D238N NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 238 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GAGCTGCAGTCTGTTGGGCAC 0.647 NaN 0 0 0 0.009535 0 30 310 ASTN1 460 broad.mit.edu 37 1 176833599 176833599 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:176833599G>A uc001glc.2 - 23 3918 c.3706C>T c.(3706-3708)CTT>TTT p.L1236F ASTN1_uc001glb.1_Intron NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1244 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GGTTCCTGAAGGAGTCCATTG 0.532 NaN 0 0 0 0.00308 0 7 60 SEC16B 89866 broad.mit.edu 37 1 177937001 177937001 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:177937001G>C uc001gli.1 - 2 206 c.116C>G c.(115-117)TCT>TGT p.S39C SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.S39C|SEC16B_uc001gll.3_Missense_Mutation_p.S39C NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 39 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 ATTGTGCCAAGAGTGAGGGAC 0.607 NaN 0 0 0 0.002299 0 20 150 TOR3A 64222 broad.mit.edu 37 1 179054980 179054980 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:179054980C>T uc001gmd.2 + 3 743 c.591C>T c.(589-591)TTC>TTT p.F197F TOR3A_uc010pnd.1_Intron NM_022371 NP_071766 Q9H497 TOR3A_HUMAN torsin family 3, member A precursor 197 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding pancreas(1) 1 TCAGGATGTTCATCGCCACGT 0.592 NaN 0 0 0 0.007413 0 19 139 TDRD5 163589 broad.mit.edu 37 1 179600039 179600039 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:179600039G>A uc001gnf.1 + 7 1360 c.1110G>A c.(1108-1110)AAG>AAA p.K370K TDRD5_uc010pnp.1_Silent_p.K370K|TDRD5_uc001gnh.1_5'UTR NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 370 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 ATGCGGATAAGAAGCCTCTAC 0.413 NaN 0 0 0 0.008291 0 4 84 TOR1AIP1 26092 broad.mit.edu 37 1 179883175 179883175 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:179883175C>G uc001gnq.2 + 9 1168 c.950C>G c.(949-951)TCA>TGA p.S317* NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 317 Nuclear (Potential). integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 CAGTCACCATCAACCTCCAGC 0.303 NaN 0 0 0 0.001984 0 4 52 HMCN1 83872 broad.mit.edu 37 1 186037086 186037086 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:186037086G>A uc001grq.1 + 50 8055 c.7826G>A c.(7825-7827)TGG>TAG p.W2609* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2609 Ig-like C2-type 24. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACCATCACCTGGTTTAAGGAT 0.428 NaN 0 0 0 0.002299 0 16 62 TPR 7175 broad.mit.edu 37 1 186322838 186322838 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:186322838C>T uc001grv.2 - 18 2613 c.2316G>A c.(2314-2316)GAG>GAA p.E772E NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 772 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CAGCTAGCTTCTCATTTGCTC 0.363 NaN T NTRK1 papillary thyroid 0 0 0 0.00278 0 17 135 FAM5C 339479 broad.mit.edu 37 1 190250836 190250836 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:190250836C>T uc001gse.1 - 3 513 c.281G>A c.(280-282)AGA>AAA p.R94K FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 94 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AAGGAAATTTCTTCTCTCAAC 0.398 NaN 0 0 0 0.004672 0 3 9 PHLDA3 23612 broad.mit.edu 37 1 201437671 201437671 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:201437671C>T uc001gwq.2 - 1 629 c.244G>A c.(244-246)GAG>AAG p.E82K PHLDA3_uc009wzx.2_5'UTR NM_012396 NP_036528 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, 82 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding 0 AAGTCGATCTCGCCGCCCCCT 0.652 NaN 0 0 0 0.00361 0 62 139 RNPEP 6051 broad.mit.edu 37 1 201965372 201965372 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:201965372G>A uc001gxd.2 + 4 864 c.835G>A c.(835-837)GGA>AGA p.G279R RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.G148R NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase 279 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GAAGCTTTTTGGACCTTATGT 0.493 NaN 0 0 0 0.008871 0 13 147 PPP1R15B 84919 broad.mit.edu 37 1 204380470 204380470 + Missense_Mutation SNP A A G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:204380470A>G uc001hav.3 - 1 475 c.70T>C c.(70-72)TTT>CTT p.F24L NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 24 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CGAGGGAAAAAGGGTGGCCAG 0.627 NaN 0 0 0 0.001168 0 4 117 SLC45A3 85414 broad.mit.edu 37 1 205628553 205628553 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:205628553C>A uc001hda.1 - 5 1810 c.1471G>T c.(1471-1473)GAC>TAC p.D491Y SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 491 transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) ATGGCGAGGTCCAGGCAGATG 0.642 NaN T ETV1|ETV5|ELK4|ERG prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.32416e-17 0.002299 2.50175e-17 18 46 AVPR1B 553 broad.mit.edu 37 1 206224493 206224493 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:206224493C>G uc001hds.2 + 1 211 c.53C>G c.(52-54)TCT>TGT p.S18C NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 18 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GGCACCCTCTCTGCCCCCAAT 0.652 NaN 0 0 0 0.00361 0 109 506 DYRK3 8444 broad.mit.edu 37 1 206821558 206821558 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:206821558G>C uc001hej.2 + 3 1183 c.1015G>C c.(1015-1017)GAA>CAA p.E339Q DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.E319Q NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 339 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TCTGAAGCCAGAAAACATTCT 0.468 NaN 0 0 0 0.00499 0 14 80 DYRK3 8444 broad.mit.edu 37 1 206821678 206821678 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:206821678G>C uc001hej.2 + 3 1303 c.1135G>C c.(1135-1137)GAA>CAA p.E379Q DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.E359Q NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 379 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CAGAGCTCCAGAAATCATCTT 0.488 NaN 0 0 0 0.00245 0 12 65 DYRK3 8444 broad.mit.edu 37 1 206821905 206821905 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:206821905G>A uc001hej.2 + 3 1530 c.1362G>A c.(1360-1362)GTG>GTA p.V454V DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.V434V NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 454 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ACTGCTCTGTGACTACCCAGG 0.552 NaN 0 0 0 0.011902 0 35 372 CR1 1378 broad.mit.edu 37 1 207679266 207679266 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:207679266G>A uc001hfy.2 + 2 279 c.139G>A c.(139-141)GAA>AAA p.E47K CR1_uc009xcl.1_Missense_Mutation_p.E47K|CR1_uc001hfx.2_Missense_Mutation_p.E47K|CR1_uc010psg.1_Missense_Mutation_p.E47K|CR1_uc009xcj.1_Missense_Mutation_p.E47K|CR1_uc009xck.1_Missense_Mutation_p.E47K NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 47 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CAATGCCCCAGAATGGCTTCC 0.373 NaN 0 0 0 0.006122 0 15 58 IRF6 3664 broad.mit.edu 37 1 209968639 209968639 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:209968639G>A uc001hhq.1 - 5 767 c.504C>T c.(502-504)ATC>ATT p.I168I IRF6_uc010psm.1_Silent_p.I73I|IRF6_uc009xct.1_Silent_p.I168I NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 168 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) ACTCACCATTGATGTTCAGGA 0.488 NaN HNSCC(57;0.16) 0 0 0 0.00361 0 40 141 USH2A 7399 broad.mit.edu 37 1 215916588 215916588 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:215916588G>A uc001hku.1 - 59 11866 c.11479C>T c.(11479-11481)CAA>TAA p.Q3827* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3827 Fibronectin type-III 23.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGGTGGATTGATGATGACCA 0.438 NaN HNSCC(13;0.011) 0 0 0 0.011902 0 34 113 PARP1 142 broad.mit.edu 37 1 226555291 226555291 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:226555291C>T uc001hqd.3 - 17 2467 c.2296G>A c.(2296-2298)GAC>AAC p.D766N NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 766 PARP alpha-helical. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) AGCAGGTTGTCAAGCATTTCC 0.512 NaN Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 0 0 0 0.002836 0 25 73 PARP1 142 broad.mit.edu 37 1 226567866 226567866 + Splice_Site SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:226567866C>G uc001hqd.3 - 10 1472 c.1301_splice c.e10-1 p.K434_splice NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TCCACCTCCTCTGTTCAAATT 0.388 NaN Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 0 0 0 0.009096 0 3 26 WNT3A 89780 broad.mit.edu 37 1 228210479 228210479 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:228210479G>T uc001hrq.1 + 2 261 c.183G>T c.(181-183)GAG>GAT p.E61D WNT3A_uc001hrp.1_Missense_Mutation_p.E61D NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 61 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) ACTACGTGGAGATCATGCCCA 0.652 NaN 1 0 9.65021e-13 0.010818 1.02851e-12 26 111 OBSCN 84033 broad.mit.edu 37 1 228466439 228466439 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:228466439G>A uc009xez.1 + 26 6953 c.6909G>A c.(6907-6909)GAG>GAA p.E2303E OBSCN_uc001hsn.2_Silent_p.E2303E|OBSCN_uc001hsp.1_Silent_p.E2E|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2303 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TTGCCATGGAGAAGCACCGCG 0.667 NaN 0 0 0 0.00361 0 40 139 SIPA1L2 57568 broad.mit.edu 37 1 232615474 232615474 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:232615474C>T uc001hvg.2 - 5 2142 c.1984G>A c.(1984-1986)GAT>AAT p.D662N NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 662 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCGTGGAATCAGCTGAAAAC 0.398 NaN 0 0 0 0.001368 0 11 39 TOMM20 9804 broad.mit.edu 37 1 235292007 235292007 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:235292007G>A uc001hwl.2 - 1 250 c.24C>T c.(22-24)ATC>ATT p.I8I SNORA14B_uc001hwm.1_5'Flank NM_014765 NP_055580 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 8 Helical; (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding 0 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) CACCGGCGGCGATGGCGCTGT 0.607 NaN 0 0 0 0.00361 0 72 168 ARID4B 51742 broad.mit.edu 37 1 235345386 235345386 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:235345386C>T uc001hwq.2 - 20 3346 c.2848G>A c.(2848-2850)GAG>AAG p.E950K ARID4B_uc001hwr.2_Missense_Mutation_p.E864K|ARID4B_uc001hws.3_Missense_Mutation_p.E864K|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.E631K NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 950 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GCTGCAGCCTCAGTATCAGAG 0.517 NaN 0 0 0 0.004007 0 14 59 LYST 1130 broad.mit.edu 37 1 235920623 235920623 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:235920623G>A uc001hxj.2 - 24 7192 c.7017C>T c.(7015-7017)CTC>CTT p.L2339L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2339 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGTGGTTAACGAGGACCAAAA 0.333 NaN Chediak-Higashi_syndrome 0 0 0 0.010729 0 9 62 NID1 4811 broad.mit.edu 37 1 236212147 236212147 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:236212147C>T uc001hxo.2 - 2 470 c.368G>A c.(367-369)CGA>CAA p.R123Q NID1_uc009xgd.2_Missense_Mutation_p.R123Q NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 123 NIDO. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TAAGTCTTCTCGATAATAAAC 0.567 NaN 0 0 0 0.004656 0 26 74 CEP170 9859 broad.mit.edu 37 1 243328189 243328189 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:243328189C>T uc001hzs.2 - 13 3481 c.3073G>A c.(3073-3075)GAT>AAT p.D1025N CEP170_uc001hzt.2_Missense_Mutation_p.D927N|CEP170_uc001hzu.2_Missense_Mutation_p.D927N|CEP170_uc001hzv.1_Missense_Mutation_p.D403N NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1025 Targeting to microtubules. centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GTTTGGTCATCATCTGTTAAG 0.423 NaN 0 0 0 0.006214 0 8 41 PPPDE1 51029 broad.mit.edu 37 1 244868944 244868944 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:244868944G>A uc001iao.2 + 5 702 c.438G>A c.(436-438)CCG>CCA p.P146P PPPDE1_uc001iap.2_Silent_p.P113P|PPPDE1_uc001iaq.1_RNA NM_016076 NP_057160 Q9BSY9 PPDE1_HUMAN PPPDE peptidase domain containing 1 146 PPPDE peptidase. breast(3) 3 GTTGCCTCCCGAAGGAGTGGC 0.537 NaN 0 0 0 0.00361 0 38 129 NLRP3 114548 broad.mit.edu 37 1 247587980 247587980 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:247587980C>T uc001icr.2 + 5 1373 c.1235C>T c.(1234-1236)CCC>CTC p.P412L NLRP3_uc001ics.2_Missense_Mutation_p.P412L|NLRP3_uc001icu.2_Missense_Mutation_p.P412L|NLRP3_uc001icw.2_Missense_Mutation_p.P412L|NLRP3_uc001icv.2_Missense_Mutation_p.P412L|NLRP3_uc010pyw.1_Missense_Mutation_p.P410L|NLRP3_uc001ict.1_Missense_Mutation_p.P410L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 412 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGCTTCATCCCCCTGGTCTGC 0.542 NaN 0 0 0 0.001168 0 5 91 SH3BP5L 80851 broad.mit.edu 37 1 249106422 249106422 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:249106422G>A uc001iew.1 - 7 1411 c.859C>T c.(859-861)CGG>TGG p.R287W SH3BP5L_uc010pzp.1_Missense_Mutation_p.R180W|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R255W|SH3BP5L_uc001iev.1_Missense_Mutation_p.R168W NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 287 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GAGGAGCGCCGAGGGCCCAGG 0.721 NaN 0 0 0 0.00308 0 5 39 GDI2 2665 broad.mit.edu 37 10 5810189 5810189 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:5810189G>C uc001iil.3 - 8 1269 c.978C>G c.(976-978)GTC>GTG p.V326V GDI2_uc001iim.3_Silent_p.V281V|GDI2_uc009xid.2_Silent_p.V330V NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 326 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 ACTTTCGATTGACTTGGTTCT 0.408 NaN 0 0 0 0.012319 0 17 89 NMT2 9397 broad.mit.edu 37 10 15175327 15175327 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:15175327C>G uc001inz.1 - 4 511 c.427G>C c.(427-429)GAT>CAT p.D143H NMT2_uc001ioa.1_Missense_Mutation_p.D130H|NMT2_uc009xjo.1_Missense_Mutation_p.D143H|NMT2_uc010qbz.1_5'UTR NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 143 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 TTGTCTTTATCTGGTTCAATT 0.398 NaN 0 0 0 0.00245 0 10 85 VIM 7431 broad.mit.edu 37 10 17276805 17276805 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:17276805C>T uc001iou.2 + 6 1409 c.996C>T c.(994-996)GCC>GCT p.A332A VIM_uc001iov.1_Silent_p.A332A|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.A332A|VIM_uc001ioy.1_Silent_p.A332A|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.A332A NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 332 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 AAGTGGATGCCCTTAAAGGAA 0.517 NaN 0 0 0 0.000602 0 4 48 C10orf140 387640 broad.mit.edu 37 10 21804708 21804708 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:21804708G>A uc009xkd.2 - 4 4297 c.2044C>T c.(2044-2046)CTG>TTG p.L682L uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 601 nucleus nucleotide binding ovary(1) 1 ATATTGTGCAGAAATGGCAAT 0.433 NaN 0 0 0 0.001984 0 6 48 ARMC3 219681 broad.mit.edu 37 10 23321936 23321936 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:23321936G>A uc001irm.3 + 18 2476 c.2393G>A c.(2392-2394)CGA>CAA p.R798Q ARMC3_uc010qcv.1_Missense_Mutation_p.R791Q|ARMC3_uc010qcw.1_Missense_Mutation_p.R535Q NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 798 binding 0 TTCTACCATCGAGCTTTGCTT 0.363 NaN 0 0 0 0.004482 0 5 21 KIAA1462 57608 broad.mit.edu 37 10 30317490 30317490 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:30317490C>G uc001iux.2 - 2 1646 c.1587G>C c.(1585-1587)GTG>GTC p.V529V KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.V391V|KIAA1462_uc009xle.1_Silent_p.V529V NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 529 ovary(4) 4 GGCTGCCTCTCACATCAGGCC 0.612 NaN 0 0 0 0.00623 0 32 217 LYZL2 119180 broad.mit.edu 37 10 30915075 30915075 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:30915075C>T uc001ivk.2 - 3 408 c.395G>A c.(394-396)GGA>GAA p.G132E NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 86 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) CTTCAGCTTTCCGCGTCTGCA 0.572 NaN 0 0 0 0.012319 0 17 139 PARD3 56288 broad.mit.edu 37 10 34420503 34420503 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:34420503G>C uc010qej.1 - 23 3437 c.3437C>G c.(3436-3438)TCA>TGA p.S1146* PARD3_uc010qek.1_Nonsense_Mutation_p.S1143*|PARD3_uc010qel.1_Nonsense_Mutation_p.S1109*|PARD3_uc010qem.1_Nonsense_Mutation_p.S1130*|PARD3_uc010qen.1_Nonsense_Mutation_p.S1100*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S1063*|PARD3_uc010qep.1_Nonsense_Mutation_p.S1056*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S1034* NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1146 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) GCTAGGAGTTGATCTGTTACT 0.423 NaN 0 0 0 0.003163 0 13 82 RBP3 5949 broad.mit.edu 37 10 48389979 48389979 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:48389979C>G uc001jez.2 - 1 1013 c.899G>C c.(898-900)GGG>GCG p.G300A NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 300 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GGGCAGCACCCCGCTGCCCTC 0.677 NaN 0 0 0 0.008291 0 8 34 ERCC6 2074 broad.mit.edu 37 10 50740821 50740821 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:50740821C>T uc001jhs.3 - 2 344 c.190G>A c.(190-192)GCA>ACA p.A64T PGBD3_uc009xoe.2_Missense_Mutation_p.A64T|PGBD3_uc001jhu.2_Missense_Mutation_p.A64T NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 64 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 CTCGGAGCTGCTGATGCGCAC 0.607 NaN Direct_reversal_of_damage|NER 0 0 0 0.003954 0 24 76 ANK3 288 broad.mit.edu 37 10 61833285 61833285 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:61833285C>G uc001jky.2 - 37 7546 c.7354G>C c.(7354-7356)GAG>CAG p.E2452Q ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2452 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCTGACAACTCATCGTCATGG 0.403 NaN 0 0 0 0.00308 0 8 39 NEUROG3 50674 broad.mit.edu 37 10 71332658 71332658 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:71332658C>T uc001jpp.2 - 2 300 c.142G>A c.(142-144)GAG>AAG p.E48K NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 48 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 TCTTCCGCCTCTGCGCAGTTC 0.721 NaN 0 0 0 0.010729 0 10 34 C10orf54 64115 broad.mit.edu 37 10 73521588 73521588 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:73521588G>A uc001jsd.2 - 2 419 c.278C>T c.(277-279)ACG>ATG p.T93M CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Translation_Start_Site|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.T93M NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 93 Ig-like.|Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 GTCCTGGAACGTGAGGTTGCG 0.652 NaN 0 0 0 0.012319 0 20 64 KCNMA1 3778 broad.mit.edu 37 10 78708987 78708987 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:78708987G>C uc001jxn.2 - 22 2799 c.2622C>G c.(2620-2622)CTC>CTG p.L874L KCNMA1_uc001jxj.2_Silent_p.L820L|KCNMA1_uc001jxk.1_Silent_p.L492L|KCNMA1_uc009xrt.1_Silent_p.L665L|KCNMA1_uc001jxl.1_Silent_p.L499L|KCNMA1_uc001jxo.2_Silent_p.L857L|KCNMA1_uc001jxm.2_Silent_p.L816L|KCNMA1_uc001jxq.2_Silent_p.L819L NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 874 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CAATGTGCTTGAGCTCATGGT 0.527 NaN 0 0 0 0.004289 0 31 95 IFIT2 3433 broad.mit.edu 37 10 91066371 91066371 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:91066371C>T uc009xts.2 + 2 833 c.658C>T c.(658-660)CAT>TAT p.H220Y LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 220 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) TCTGAAGCTTCATAAGATGCG 0.502 NaN 0 0 0 0.001984 0 4 39 CC2D2B 387707 broad.mit.edu 37 10 97772423 97772423 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:97772423C>G uc001kll.2 + 4 454 c.255C>G c.(253-255)ATC>ATG p.I85M uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Missense_Mutation_p.I85M NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 85 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) CAAGATATATCAAGGCATTAA 0.299 NaN 0 0 0 0.008291 0 9 26 TLL2 7093 broad.mit.edu 37 10 98205917 98205917 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:98205917C>G uc001kml.1 - 3 521 c.295G>C c.(295-297)GAA>CAA p.E99Q TLL2_uc009xvf.1_Missense_Mutation_p.E99Q NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 99 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCCTGCTCTTCAAGCCCACCT 0.557 NaN 0 0 0 0.007291 0 29 92 PI4K2A 55361 broad.mit.edu 37 10 99416092 99416092 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:99416092G>A uc001kog.1 + 3 744 c.687G>A c.(685-687)GTG>GTA p.V229V PI4K2A_uc010qoy.1_Silent_p.V199V|PI4K2A_uc009xvw.1_5'UTR NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 229 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) TTGACCGAGTGAAGTCCAGGG 0.493 NaN 0 0 0 0.003163 0 13 74 PYROXD2 84795 broad.mit.edu 37 10 100174797 100174797 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:100174797C>T uc001kpc.2 - 1 182 c.96G>A c.(94-96)AAG>AAA p.K32K PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.K32K NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase 32 oxidoreductase activity central_nervous_system(1) 1 CATACTCAGGCTTCAGACCTC 0.617 NaN 0 0 0 0.00361 0 67 249 ENTPD7 57089 broad.mit.edu 37 10 101464399 101464399 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:101464399G>A uc001kqa.3 + 13 1952 c.1774G>A c.(1774-1776)GAA>AAA p.E592K ENTPD7_uc009xwl.2_Missense_Mutation_p.E594K NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 592 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) GCTGTGGCTTGAAGAGGTGGT 0.572 NaN 0 0 0 0.003163 0 12 20 PKD2L1 9033 broad.mit.edu 37 10 102058407 102058407 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:102058407C>G uc001kqx.1 - 4 1026 c.643G>C c.(643-645)GAC>CAC p.D215H PKD2L1_uc009xwm.1_Missense_Mutation_p.D168H NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 215 Extracellular (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCCGGAAGTCTTCATGCACC 0.542 NaN 0 0 0 0.00361 0 53 117 CNNM2 54805 broad.mit.edu 37 10 104678579 104678579 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:104678579G>A uc001kwm.2 + 1 466 c.342G>A c.(340-342)ACG>ACA p.T114T CNNM2_uc001kwn.2_Silent_p.T114T|CNNM2_uc001kwl.2_Silent_p.T114T NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 114 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ATAACGAGACGTGGTCCCGCA 0.547 NaN 0 0 0 0.001855 0 10 32 PDCD11 22984 broad.mit.edu 37 10 105179396 105179396 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:105179396G>A uc001kwy.1 + 16 2295 c.2208G>A c.(2206-2208)GTG>GTA p.V736V NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 736 S1 motif 8. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGGTTTTGTGAAGAGCATCA 0.498 NaN 0 0 0 0.002299 0 19 73 CALHM2 51063 broad.mit.edu 37 10 105207266 105207266 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:105207266G>C uc001kwz.2 - 3 1001 c.615C>G c.(613-615)CTC>CTG p.L205L CALHM2_uc001kxa.2_Silent_p.L205L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Silent_p.L205L NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 205 Helical; (Potential). integral to membrane skin(1) 1 AGTAATGCTTGAGGCACTTGG 0.617 NaN 0 0 0 0.008871 0 18 52 C10orf79 80217 broad.mit.edu 37 10 105942240 105942240 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:105942240G>C uc001kxw.2 - 17 2289 c.2173C>G c.(2173-2175)CTG>GTG p.L725V C10orf79_uc009xxq.2_Missense_Mutation_p.L33V|C10orf79_uc001kxx.3_Missense_Mutation_p.L726V NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 725 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TAATAGTCCAGAATTTCACTG 0.348 NaN 0 0 0 0.00308 0 7 38 PDZD8 118987 broad.mit.edu 37 10 119044035 119044035 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:119044035C>T uc001lde.1 - 5 2408 c.2209G>A c.(2209-2211)GAA>AAA p.E737K NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 737 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GCCACATCTTCAAGTTTTAAA 0.453 NaN 0 0 0 0.004482 0 9 30 FAM175B 23172 broad.mit.edu 37 10 126523473 126523473 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr10:126523473C>T uc001lib.3 + 9 1226 c.1181C>T c.(1180-1182)TCA>TTA p.S394L NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 394 BRISC complex polyubiquitin binding 0 TACTCACATTCAAAGGATTCT 0.463 NaN 0 0 0 0.00499 0 14 47 RIC8A 60626 broad.mit.edu 37 11 209946 209946 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:209946C>T uc001log.2 + 3 997 c.672C>T c.(670-672)ATC>ATT p.I224I BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.I224I|RIC8A_uc001loh.2_Silent_p.I217I NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN resistance to inhibitors of cholinesterase 8 224 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity 0 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CCATGGAGATCCTCAAAGTGC 0.577 NaN 0 0 0 0.010729 0 11 72 MUC5B 727897 broad.mit.edu 37 11 1159327 1159327 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:1159327C>T uc009ycr.1 + 12 1430 c.1304C>T c.(1303-1305)TCT>TTT p.S435F NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 426 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTACCTGCTCTGTGCTTGGA 0.637 NaN 0 0 0 0.010504 0 19 105 MUC5B 727897 broad.mit.edu 37 11 1272547 1272547 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:1272547C>T uc009ycr.1 + 52 15529 c.15403C>T c.(15403-15405)CTG>TTG p.L5135L MUC5B_uc001ltb.2_Silent_p.L4816L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4758 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCACTCTGGGGACGAC 0.627 NaN 0 0 0 0.002299 0 20 130 TOLLIP 54472 broad.mit.edu 37 11 1298324 1298324 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:1298324C>T uc001lte.2 - 6 881 c.770G>A c.(769-771)CGA>CAA p.R257Q TOLLIP_uc001ltd.2_Missense_Mutation_p.R188Q|TOLLIP_uc009ycu.2_Missense_Mutation_p.R196Q|TOLLIP_uc001ltf.2_Missense_Mutation_p.R207Q NM_019009 NP_061882 Q9H0E2 TOLIP_HUMAN toll interacting protein 257 CUE. cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding 0 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) CTTGTTCCCTCGCTGGGCTTC 0.627 NaN 0 0 0 0.009535 0 24 163 SYT9 143425 broad.mit.edu 37 11 7334658 7334658 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:7334658C>T uc001mfe.2 + 3 767 c.530C>T c.(529-531)TCA>TTA p.S177L SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 177 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CTCAACTTGTCAAACCCGGAC 0.378 NaN 0 0 0 0.000602 0 3 33 PPFIBP2 8495 broad.mit.edu 37 11 7647116 7647116 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:7647116G>C uc001mfj.3 + 8 1208 c.820G>C c.(820-822)GAG>CAG p.E274Q PPFIBP2_uc010rbb.1_Missense_Mutation_p.E197Q|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.E197Q|PPFIBP2_uc010rbd.1_Missense_Mutation_p.E116Q|PPFIBP2_uc010rbe.1_Missense_Mutation_p.E162Q|PPFIBP2_uc001mfl.3_Missense_Mutation_p.E131Q NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 274 Potential. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GAGTCACACAGAGAGAGGTGA 0.507 NaN 0 0 0 0.009096 0 3 38 NLRP10 338322 broad.mit.edu 37 11 7982410 7982410 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:7982410C>T uc001mfv.1 - 2 766 c.749G>A c.(748-750)GGC>GAC p.G250D NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 250 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCATCAAAGCCATCCAGGAT 0.527 NaN 0 0 0 0.001168 0 4 51 SCUBE2 57758 broad.mit.edu 37 11 9051467 9051467 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:9051467C>T uc001mhh.1 - 18 2460 c.2380G>A c.(2380-2382)GAC>AAC p.D794N SCUBE2_uc001mhi.1_Missense_Mutation_p.D766N|SCUBE2_uc001mhj.1_Missense_Mutation_p.D668N NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 794 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) CCATCAAAGTCAGTCGTAGTA 0.448 NaN 0 0 0 0.00632 0 22 156 AMPD3 272 broad.mit.edu 37 11 10500089 10500089 + Missense_Mutation SNP A A G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:10500089A>G uc001mio.1 + 3 573 c.238A>G c.(238-240)ATG>GTG p.M80V AMPD3_uc010rbz.1_Intron|AMPD3_uc001min.1_Missense_Mutation_p.M89V|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.M80V|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.M87V|AMPD3_uc009yfy.2_Missense_Mutation_p.M80V NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 80 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AAGTTTCAAGATGATTCGGTC 0.532 NaN 0 0 0 0.00361 0 88 232 EIF4G2 1982 broad.mit.edu 37 11 10823911 10823911 + Silent SNP G G A rs142114099 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:10823911G>A uc001mjc.2 - 12 1485 c.1068C>T c.(1066-1068)TTC>TTT p.F356F EIF4G2_uc001mjb.2_Silent_p.F150F|EIF4G2_uc009ygf.2_Silent_p.F150F|EIF4G2_uc001mjd.2_Silent_p.F356F|EIF4G2_uc001mjf.1_Silent_p.F150F|SNORD97_uc009yge.2_5'Flank NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 356 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGGGTGGCATGAACGGTCCCT 0.428 NaN 0 0 0 0.00278 0 21 130 SPON1 10418 broad.mit.edu 37 11 14280896 14280896 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:14280896G>A uc001mle.2 + 13 2101 c.1563G>A c.(1561-1563)ATG>ATA p.M521I NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 521 TSP type-1 2. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GCATGGGCATGAGGTCCCGGG 0.627 NaN 0 0 0 0.008291 0 7 46 SPON1 10418 broad.mit.edu 37 11 14280908 14280908 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:14280908G>A uc001mle.2 + 13 2113 c.1575G>A c.(1573-1575)GAG>GAA p.E525E NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 525 TSP type-1 2. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GGTCCCGGGAGAGGTATGTGA 0.632 NaN 0 0 0 0.010729 0 7 46 SPON1 10418 broad.mit.edu 37 11 14282247 14282247 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:14282247G>C uc001mle.2 + 15 2483 c.1945G>C c.(1945-1947)GAC>CAC p.D649H NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 649 TSP type-1 4. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) AGAACTTGGAGACTGCAATGA 0.577 NaN 0 0 0 0.003954 0 20 76 COPB1 1315 broad.mit.edu 37 11 14487843 14487843 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:14487843C>G uc001mli.2 - 17 2582 c.2275G>C c.(2275-2277)GAA>CAA p.E759Q COPB1_uc001mlg.2_Missense_Mutation_p.E759Q|COPB1_uc001mlh.2_Missense_Mutation_p.E759Q NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 759 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 GTAGCTAGTTCTAATGTGCAA 0.383 NaN 0 0 0 0.004656 0 22 96 TPH1 7166 broad.mit.edu 37 11 18057567 18057567 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:18057567C>T uc001mnp.2 - 2 266 c.240G>A c.(238-240)CTG>CTA p.L80L TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 80 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TATGAGACTTCAGCAGATGAA 0.318 NaN 0 0 0 0.00308 0 7 32 LRP4 4038 broad.mit.edu 37 11 46917828 46917828 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:46917828C>T uc001ndn.3 - 9 1127 c.981G>A c.(979-981)CAG>CAA p.Q327Q NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 327 Extracellular (Potential).|LDL-receptor class A 8. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) ACAGCTTCCTCTGCCCAATGC 0.597 NaN 0 0 0 0.00333 0 23 122 MTCH2 23788 broad.mit.edu 37 11 47660529 47660529 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:47660529G>C uc010rho.1 - 2 351 c.162C>G c.(160-162)CTC>CTG p.L54L MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 54 Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 CATAACTAAAGAGACCAGGAA 0.383 NaN 0 0 0 0.00499 0 13 43 SSRP1 6749 broad.mit.edu 37 11 57100260 57100260 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:57100260G>A uc001njt.2 - 6 874 c.607C>T c.(607-609)CGG>TGG p.R203W SSRP1_uc010rjq.1_Missense_Mutation_p.R203W NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 203 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 TGCAGCTCCCGGAAGATGCAG 0.527 NaN 0 0 0 0.001984 0 5 71 MS4A1 931 broad.mit.edu 37 11 60233575 60233575 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:60233575C>T uc001npp.2 + 6 934 c.518C>T c.(517-519)TCT>TTT p.S173F MS4A1_uc001npq.2_Missense_Mutation_p.S173F|MS4A1_uc009yna.2_Missense_Mutation_p.S173F|MS4A1_uc009ymz.2_Missense_Mutation_p.S173F|MS4A1_uc010rlc.1_Intron NM_152866 NP_690605 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 173 Epitope 3 (recognized by antibodies, including Rituximab). B cell activation|immune response integral to plasma membrane ovary(3)|lung(2) 5 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GCTAATCCCTCTGAGAAAAAC 0.358 NaN 0 0 0 0.009535 0 29 72 VWCE 220001 broad.mit.edu 37 11 61026481 61026481 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:61026481G>A uc001nra.2 - 20 2813 c.2534C>T c.(2533-2535)TCA>TTA p.S845L VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 845 Pro-rich. extracellular region calcium ion binding ovary(1) 1 AGGCCCTGGTGAGAGTCGAGG 0.642 NaN 0 0 0 0.010729 0 10 32 C11orf66 220004 broad.mit.edu 37 11 61252187 61252187 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:61252187G>C uc001nru.1 + 5 534 c.409G>C c.(409-411)GAG>CAG p.E137Q C11orf66_uc009ynq.1_Missense_Mutation_p.E137Q NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 137 ovary(1) 1 CGACACCCAGGAGCACGGGCC 0.537 NaN 0 0 0 0.004482 0 5 30 C11orf9 745 broad.mit.edu 37 11 61545871 61545871 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:61545871G>A uc001nsc.1 + 14 2019 c.1923G>A c.(1921-1923)GTG>GTA p.V641V C11orf9_uc001nse.1_Silent_p.V632V|C11orf9_uc010rll.1_Silent_p.V32V NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 641 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CTCAGGAGGTGAAGGAGATCT 0.537 NaN 0 0 0 0.004656 0 22 182 C11orf9 745 broad.mit.edu 37 11 61545877 61545877 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:61545877G>A uc001nsc.1 + 14 2025 c.1929G>A c.(1927-1929)GAG>GAA p.E643E C11orf9_uc001nse.1_Silent_p.E634E|C11orf9_uc010rll.1_Silent_p.E34E NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 643 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 AGGTGAAGGAGATCTTGCCTG 0.547 NaN 0 0 0 0.007291 0 24 182 AHNAK 79026 broad.mit.edu 37 11 62296070 62296070 + Missense_Mutation SNP A A G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:62296070A>G uc001ntl.2 - 5 6119 c.5819T>C c.(5818-5820)GTG>GCG p.V1940A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1940 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CGACACATCCACATCCCCTTT 0.502 NaN 0 0 0 0.004482 0 9 314 NXF1 10482 broad.mit.edu 37 11 62569489 62569489 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:62569489G>C uc001nvf.1 - 5 619 c.483C>G c.(481-483)TTC>TTG p.F161L NXF1_uc001nvg.1_Missense_Mutation_p.F161L|NXF1_uc009yog.1_Missense_Mutation_p.F204L|NXF1_uc010rmh.1_Missense_Mutation_p.F24L NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 161 Interaction with THOC4.|RRM. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 CTTCAACGAAGAACTGGGCCC 0.522 NaN 0 0 0 0.00278 0 17 105 NXF1 10482 broad.mit.edu 37 11 62570909 62570909 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:62570909C>T uc001nvf.1 - 3 487 c.351G>A c.(349-351)AAG>AAA p.K117K NXF1_uc001nvg.1_Silent_p.K117K|NXF1_uc009yog.1_Silent_p.K160K|NXF1_uc010rmh.1_Intron NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 117 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TGAACCAGTTCTTTGAGGTCC 0.473 NaN 0 0 0 0.007291 0 25 185 STX5 6811 broad.mit.edu 37 11 62575050 62575050 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:62575050G>C uc001nvh.2 - 11 1113 c.959C>G c.(958-960)TCA>TGA p.S320* NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmi.1_Nonsense_Mutation_p.S224*|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Nonsense_Mutation_p.S266*|STX5_uc010rmj.1_3'UTR|STX5_uc001nvj.2_Nonsense_Mutation_p.S135* NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 320 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 GAGGATCTCTGAATGGGCGGC 0.507 NaN 0 0 0 0.010729 0 11 32 SLC22A10 387775 broad.mit.edu 37 11 63072312 63072312 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:63072312G>A uc009yor.2 + 9 1757 c.1549G>A c.(1549-1551)GAA>AAA p.E517K SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 517 Extracellular (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CCTCCTACCAGAAACCAAGAA 0.433 NaN 0 0 0 0.001855 0 12 55 RTN3 10313 broad.mit.edu 37 11 63486675 63486675 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:63486675C>T uc001nxq.2 + 3 888 c.701C>T c.(700-702)TCA>TTA p.S234L RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.S215L|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.S122L|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 234 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TCCAAAGTTTCAGGAGATGAT 0.373 NaN 0 0 0 0.007413 0 13 44 RTN3 10313 broad.mit.edu 37 11 63486765 63486765 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:63486765C>G uc001nxq.2 + 3 978 c.791C>G c.(790-792)TCA>TGA p.S264* RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Nonsense_Mutation_p.S245*|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Nonsense_Mutation_p.S152*|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 264 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TTTAAAGACTCATATAAGGAG 0.368 NaN 0 0 0 0.006122 0 16 28 ESRRA 2101 broad.mit.edu 37 11 64082560 64082560 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:64082560C>G uc001nzq.1 + 6 1007 c.830C>G c.(829-831)TCA>TGA p.S277* ESRRA_uc001nzr.1_Nonsense_Mutation_p.S276*|ESRRA_uc001nzs.1_Nonsense_Mutation_p.S277*|ESRRA_uc009ypn.1_RNA NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 277 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 GCCCAGCGCTCACTGCCACTG 0.647 NaN 0 0 0 0.006122 0 13 71 RASGRP2 10235 broad.mit.edu 37 11 64508453 64508453 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:64508453C>T uc009ypu.2 - 5 565 c.338G>A c.(337-339)CGA>CAA p.R113Q RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Missense_Mutation_p.R113Q|RASGRP2_uc009ypw.2_Missense_Mutation_p.R113Q NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 113 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 GCTGTGCCGTCGGTTCCCTTC 0.557 NaN OREG0004006 type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.00245 0 12 66 PPP2R5B 5526 broad.mit.edu 37 11 64694350 64694350 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:64694350C>T uc001oby.2 + 3 951 c.366C>T c.(364-366)ATC>ATT p.I122I PPP2R5B_uc001obz.2_Silent_p.I122I NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 122 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 GTGTCCTCATCGAGCCCGTCT 0.662 NaN 0 0 0 0.008291 0 10 76 SNX15 29907 broad.mit.edu 37 11 64795031 64795031 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:64795031G>A uc001oci.3 + 4 675 c.22G>A c.(22-24)GAC>AAC p.D8N SNX15_uc009ypy.2_Missense_Mutation_p.D8N|SNX15_uc001ocj.2_Missense_Mutation_p.D8N|SNX15_uc001ock.2_Missense_Mutation_p.D8N NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 8 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 GGCGAAGGATGACTTCCTGCG 0.692 NaN OREG0021069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006999 0 35 236 SIPA1 6494 broad.mit.edu 37 11 65417656 65417656 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:65417656G>A uc001ofb.2 + 14 3063 c.2896G>A c.(2896-2898)GAT>AAT p.D966N SIPA1_uc010rom.1_Missense_Mutation_p.D864N|SIPA1_uc001ofd.2_Missense_Mutation_p.D966N NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 966 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 TCCAAAATCTGATGCTGAGTA 0.602 NaN 0 0 0 0.007835 0 34 113 KDM2A 22992 broad.mit.edu 37 11 67021043 67021043 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:67021043C>G uc001ojw.2 + 19 3916 c.3052C>G c.(3052-3054)CAA>GAA p.Q1018E KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.Q712E|KDM2A_uc001ojz.1_Missense_Mutation_p.Q476E|KDM2A_uc001oka.2_Missense_Mutation_p.Q142E NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 1018 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 CAAGGACCCTCAAATTCGGGA 0.552 NaN 0 0 0 0.006122 0 17 81 SUV420H1 51111 broad.mit.edu 37 11 67925239 67925239 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:67925239C>G uc001onm.1 - 11 2830 c.2574G>C c.(2572-2574)TTG>TTC p.L858F SUV420H1_uc009yse.1_Missense_Mutation_p.L444F|SUV420H1_uc001onn.1_Missense_Mutation_p.L686F|SUV420H1_uc009ysf.2_Missense_Mutation_p.L618F NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 858 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTATTAACCTCAAGCGCTTAG 0.403 NaN 0 0 0 0.001984 0 7 20 SUV420H1 51111 broad.mit.edu 37 11 67925604 67925604 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:67925604C>T uc001onm.1 - 11 2465 c.2209G>A c.(2209-2211)GGA>AGA p.G737R SUV420H1_uc009yse.1_Missense_Mutation_p.G323R|SUV420H1_uc001onn.1_Missense_Mutation_p.G565R|SUV420H1_uc009ysf.2_Missense_Mutation_p.G497R NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GAGTTCATTCCATCATTCTCT 0.373 NaN 0 0 0 0.006122 0 17 190 SUV420H1 51111 broad.mit.edu 37 11 67925754 67925754 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:67925754C>A uc001onm.1 - 11 2315 c.2059G>T c.(2059-2061)GAC>TAC p.D687Y SUV420H1_uc009yse.1_Missense_Mutation_p.D273Y|SUV420H1_uc001onn.1_Missense_Mutation_p.D515Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.D447Y NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CTAAAGCTGTCTTTTGTTTTG 0.443 NaN 1 0 1.02788e-11 0.00499 1.09461e-11 16 33 MRGPRD 116512 broad.mit.edu 37 11 68748225 68748225 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:68748225G>A uc010rqf.1 - 1 231 c.231C>T c.(229-231)TTC>TTT p.F77F NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 77 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AAGCCATGCTGAAGAGGAAGA 0.552 NaN 0 0 0 0.008361 0 24 69 NUMA1 4926 broad.mit.edu 37 11 71725723 71725723 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:71725723C>T uc001orl.1 - 15 2998 c.2826G>A c.(2824-2826)GCG>GCA p.A942A NUMA1_uc009ysw.1_Silent_p.A505A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A942A|NUMA1_uc001orn.2_Silent_p.A505A|NUMA1_uc009ysx.1_Silent_p.A942A|NUMA1_uc001oro.1_Silent_p.A942A NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 942 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CTCCTGCCCTCGCAGGCTCCT 0.642 NaN T RARA APL 0 0 0 0.007291 0 25 95 FOLR2 2350 broad.mit.edu 37 11 71932542 71932542 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:71932542C>T uc009ytd.2 + 5 673 c.504C>T c.(502-504)CTC>CTT p.L168L FOLR2_uc009yte.2_Silent_p.L168L|FOLR2_uc001ose.3_Silent_p.L168L|FOLR2_uc009ytf.2_Silent_p.L168L NM_001113534 NP_001107006 P14207 FOLR2_HUMAN folate receptor 2 precursor 168 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(2)|ovary(1) 3 Folic Acid(DB00158) CTGGGGCTCTCTGCCGCACCT 0.597 NaN 0 0 0 0.00361 0 38 316 PPME1 51400 broad.mit.edu 37 11 73882471 73882471 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:73882471C>G uc001ouw.2 + 1 104 c.5C>G c.(4-6)TCG>TGG p.S2W C2CD3_uc001ouu.2_5'Flank|C2CD3_uc001ouv.2_5'Flank NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 2 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) CCCTCGATGTCGGCCCTCGAA 0.642 NaN 0 0 0 0.00308 0 8 35 CHRDL2 25884 broad.mit.edu 37 11 74419417 74419417 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:74419417G>C uc001ovi.2 - 5 709 c.456C>G c.(454-456)CTC>CTG p.L152L CHRDL2_uc001ovg.2_Silent_p.L36L|CHRDL2_uc001ovh.2_Silent_p.L152L|CHRDL2_uc001ovk.1_Silent_p.L152L 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; 152 VWFC 2. cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) GGCAGGTTGTGAGGCCGCAGT 0.622 NaN 0 0 0 0.00308 0 5 36 XRRA1 143570 broad.mit.edu 37 11 74651851 74651851 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:74651851G>A uc009yub.2 - 3 405 c.73C>T c.(73-75)CTG>TTG p.L25L XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Silent_p.L25L|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 25 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 ACGCGAAGCAGATTTCTGGCT 0.498 NaN 0 0 0 0.001168 0 4 14 PCF11 51585 broad.mit.edu 37 11 82879595 82879595 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:82879595C>T uc001ozx.3 + 8 2563 c.2218C>T c.(2218-2220)CAG>TAG p.Q740* PCF11_uc010rsu.1_Nonsense_Mutation_p.Q871* NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 740 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GGATACAAATCAGCGACTTAC 0.433 NaN 0 0 0 0.00333 0 18 67 DLG2 1740 broad.mit.edu 37 11 83195224 83195224 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:83195224G>A uc001paj.2 - 17 2229 c.1926C>T c.(1924-1926)TTC>TTT p.F642F DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Silent_p.F747F|DLG2_uc010rtb.1_Silent_p.F609F|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 642 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGTAGAATGGGAATTTTCGTG 0.398 NaN 0 0 0 0.004482 0 4 33 PANX1 24145 broad.mit.edu 37 11 93912933 93912933 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:93912933C>T uc001per.2 + 4 1096 c.711C>T c.(709-711)CTC>CTT p.L237L PANX1_uc001peq.2_Silent_p.L237L NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 237 Helical; (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACTTCAGCCTCTCCTCACTCT 0.453 NaN 0 0 0 0.010729 0 12 49 AMOTL1 154810 broad.mit.edu 37 11 94533394 94533394 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:94533394C>G uc001pfb.2 + 3 1208 c.1038C>G c.(1036-1038)GTC>GTG p.V346V AMOTL1_uc001pfc.2_Silent_p.V296V NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 346 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ACGAGATGGTCAAGCCCTACC 0.567 NaN 0 0 0 0.003755 0 31 201 KIAA1377 57562 broad.mit.edu 37 11 101828992 101828992 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:101828992G>C uc001pgm.2 + 5 870 c.600G>C c.(598-600)ATG>ATC p.M200I KIAA1377_uc001pgn.2_Missense_Mutation_p.M156I|KIAA1377_uc010run.1_Missense_Mutation_p.M1I|KIAA1377_uc009yxa.1_Missense_Mutation_p.M1I NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 200 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AGAAAGAAATGAATGAAAACA 0.378 NaN 0 0 0 0.004007 0 16 117 TMEM123 114908 broad.mit.edu 37 11 102272700 102272700 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:102272700G>A uc001pha.2 - 3 816 c.395C>T c.(394-396)ACA>ATA p.T132I TMEM123_uc009yxc.2_Missense_Mutation_p.T113I NM_052932 NP_443164 Q8N131 PORIM_HUMAN transmembrane protein 123 precursor 132 Thr-rich.|Extracellular (Potential). oncosis external side of plasma membrane|integral to membrane receptor activity breast(2) 2 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) TACGGTCATTGTGGATGTTGA 0.388 NaN 0 0 0 0.010504 0 16 140 MMP20 9313 broad.mit.edu 37 11 102479695 102479695 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:102479695C>T uc001phc.2 - 5 797 c.784G>A c.(784-786)GAT>AAT p.D262N NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 262 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CCTTTCACATCATCTTTGGGG 0.468 NaN 0 0 0 0.00499 0 11 119 CASP4 837 broad.mit.edu 37 11 104821781 104821781 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:104821781G>A uc001pid.1 - 4 490 c.417C>T c.(415-417)CTC>CTT p.L139L CASP4_uc001pib.1_Silent_p.L83L|CASP4_uc009yxg.1_Silent_p.L48L|CASP4_uc010rux.1_Silent_p.L139L NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 139 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGCATATGATGAGAGCCAGGC 0.453 NaN 0 0 0 0.001984 0 5 38 VPS11 55823 broad.mit.edu 37 11 118948904 118948904 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:118948904C>T uc010ryx.1 + 12 1825 c.1783C>T c.(1783-1785)CCC>TCC p.P595S VPS11_uc010ryy.1_Missense_Mutation_p.P441S NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 595 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GGAGTTCATCCCCATCTTTGC 0.527 NaN 0 0 0 0.00632 0 23 260 MFRP 83552 broad.mit.edu 37 11 119212284 119212284 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:119212284C>T uc001pwj.2 - 13 1874 c.1714G>A c.(1714-1716)GAC>AAC p.D572N MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.D454N NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GCTTCCAGGTCAGCTGCCTCT 0.662 NaN 0 0 0 0.001368 0 9 54 TECTA 7007 broad.mit.edu 37 11 120996548 120996548 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:120996548C>A uc010rzo.1 + 7 1741 c.1741C>A c.(1741-1743)CCA>ACA p.P581T NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 581 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTTGGCATTCCAATTGGAGA 0.592 NaN 1 0 2.0095e-06 0.001984 2.09856e-06 6 52 C11orf63 79864 broad.mit.edu 37 11 122805215 122805215 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:122805215C>G uc001pym.2 + 5 1363 c.1066C>G c.(1066-1068)CAA>GAA p.Q356E NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 356 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GAATGACCATCAACCTTCCAG 0.448 NaN 0 0 0 0.004482 0 6 24 ESAM 90952 broad.mit.edu 37 11 124623758 124623758 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr11:124623758G>A uc001qav.3 - 7 1130 c.957C>T c.(955-957)CTC>CTT p.L319L VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Silent_p.L246L|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.S318F NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 319 Cytoplasmic (Potential). blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GGGGTGGCCGGAGGGCTCGTG 0.662 NaN 0 0 0 0.00308 0 6 64 CACNA2D4 93589 broad.mit.edu 37 12 2017150 2017150 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:2017150G>A uc001qjp.2 - 5 771 c.540C>T c.(538-540)TTC>TTT p.F180F CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.F180F NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 180 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCAGCTCCACGAAGTTGCCCT 0.627 NaN 0 0 0 0.008871 0 18 100 TEAD4 7004 broad.mit.edu 37 12 3104006 3104006 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:3104006C>T uc010sej.1 + 3 348 c.71C>T c.(70-72)TCT>TTT p.S24F TEAD4_uc010sek.1_Missense_Mutation_p.S24F|TEAD4_uc001qln.2_Intron NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 25 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) AGCACCGCCTCTGGGGGCAGT 0.647 NaN 0 0 0 0.004289 0 27 202 EFCAB4B 84766 broad.mit.edu 37 12 3789434 3789434 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:3789434G>C uc001qmj.2 - 5 882 c.310C>G c.(310-312)CTG>GTG p.L104V EFCAB4B_uc010sen.1_Missense_Mutation_p.L104V|EFCAB4B_uc010seo.1_Missense_Mutation_p.L104V NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 104 EF-hand 2.| activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TGTGGGGTCAGATAGCCATTG 0.512 NaN 0 0 0 0.010504 0 15 97 CHD4 1108 broad.mit.edu 37 12 6692090 6692090 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:6692090G>A uc001qpo.2 - 28 4324 c.4160C>T c.(4159-4161)CCC>CTC p.P1387L CHD4_uc001qpn.2_Missense_Mutation_p.P1380L|CHD4_uc001qpp.2_Missense_Mutation_p.P1412L|uc001qpq.1_Missense_Mutation_p.G98E|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1387 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTTACGACTGGGCCTACGGGG 0.448 NaN 0 0 0 0.006122 0 18 89 CD163L1 283316 broad.mit.edu 37 12 7527246 7527246 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:7527246C>G uc001qsy.2 - 13 3227 c.3201G>C c.(3199-3201)CTG>CTC p.L1067L CD163L1_uc010sge.1_Silent_p.L1077L NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1067 SRCR 10.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GGGCATCGCTCAGGTCCCAGC 0.622 NaN OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 13 81 RIMKLB 57494 broad.mit.edu 37 12 8866535 8866535 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:8866535G>A uc001quu.2 + 2 324 c.73G>A c.(73-75)GAG>AAG p.E25K RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E25K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E25K|RIMKLB_uc001quw.2_Missense_Mutation_p.E25K NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 25 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 TCCTCAAAAAGAGATTTTACG 0.478 NaN 0 0 0 0.006214 0 7 39 CLEC1B 51266 broad.mit.edu 37 12 10149469 10149469 + Silent SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:10149469C>A uc001qwu.2 - 4 614 c.414G>T c.(412-414)CTG>CTT p.L138L CLEC1B_uc009zhd.2_Silent_p.L105L NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 138 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 TGTCAATCTTCAGGAGAGTAG 0.398 NaN 1 0 3.86212e-05 0.008291 3.98512e-05 9 74 WBP11 51729 broad.mit.edu 37 12 14946788 14946788 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:14946788G>C uc001rci.2 - 8 951 c.790C>G c.(790-792)CAA>GAA p.Q264E NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 264 Asp-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 TGCTTATCTTGATCCATGTCC 0.463 NaN 0 0 0 0.00499 0 15 136 AEBP2 121536 broad.mit.edu 37 12 19593295 19593295 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:19593295C>A uc001ref.2 + 1 688 c.662C>A c.(661-663)TCG>TAG p.S221* AEBP2_uc001ree.2_Nonsense_Mutation_p.S221*|AEBP2_uc001reg.1_5'Flank NM_001114176 NP_001107648 Q6ZN18 AEBP2_HUMAN AE binding protein 2 isoform b 221 Ser-rich.|Interaction with RBBP4. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) CGCATGGACTCGGAGGACAGG 0.562 NaN 1 0 8.12818e-05 0.001984 8.37371e-05 5 68 SLCO1B1 10599 broad.mit.edu 37 12 21392055 21392055 + Missense_Mutation SNP T T A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:21392055T>A uc001req.3 + 15 2112 c.2008T>A c.(2008-2010)TTA>ATA p.L670I NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 670 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TGAAGCAAACTTAGAATCCTT 0.318 NaN 0 0 0 0.009096 0 3 13 ITPR2 3709 broad.mit.edu 37 12 26589263 26589263 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:26589263G>A uc001rhg.2 - 48 7077 c.6660C>T c.(6658-6660)TTC>TTT p.F2220F ITPR2_uc009zjg.1_Silent_p.F371F NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2220 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) TCGAGAACCAGAACAGTGCAG 0.418 NaN 0 0 0 0.000602 0 4 45 ARNTL2 56938 broad.mit.edu 37 12 27523108 27523108 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:27523108C>T uc001rht.1 + 3 247 c.229C>T c.(229-231)CCC>TCC p.P77S ARNTL2_uc001rhw.2_Intron|ARNTL2_uc010sjp.1_Intron|ARNTL2_uc001rhu.1_Missense_Mutation_p.P77S|ARNTL2_uc009zji.1_Intron|ARNTL2_uc001rhv.1_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 77 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) TTCTCAGAATCCCCTTACCTA 0.483 NaN 0 0 0 0.007413 0 14 91 BICD1 636 broad.mit.edu 37 12 32480797 32480797 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:32480797G>C uc001rku.2 + 5 1489 c.1408G>C c.(1408-1410)GAG>CAG p.E470Q BICD1_uc001rkv.2_Missense_Mutation_p.E470Q|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 470 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GACAAGCCTTGAGAAGACCAC 0.418 NaN 0 0 0 0.004672 0 3 40 ARID2 196528 broad.mit.edu 37 12 46245498 46245498 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:46245498C>G uc001ros.1 + 15 3592 c.3592C>G c.(3592-3594)CCA>GCA p.P1198A ARID2_uc001ror.2_Missense_Mutation_p.P1198A|ARID2_uc009zkg.1_Missense_Mutation_p.P654A|ARID2_uc009zkh.1_Missense_Mutation_p.P825A|ARID2_uc001rou.1_Missense_Mutation_p.P532A NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1198 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCTCATTGCTCCAGCAGGAAT 0.498 NaN 0 0 0 0.000602 0 5 51 H1FNT 341567 broad.mit.edu 37 12 48723735 48723735 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:48723735G>A uc001rrm.2 + 1 973 c.661G>A c.(661-663)GTG>ATG p.V221M NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 221 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 AGGACAGGCCGTGAAGGAAGA 0.662 NaN 0 0 0 0.009096 0 4 16 TUBA1A 7846 broad.mit.edu 37 12 49579554 49579554 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:49579554C>T uc009zlf.2 - 4 867 c.595G>A c.(595-597)GAT>AAT p.D199N TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.D199N|TUBA1A_uc001rtq.2_Missense_Mutation_p.D46N|TUBA1A_uc001rtr.2_Missense_Mutation_p.D46N|TUBA1A_uc009zlg.2_Missense_Mutation_p.D46N NM_006009 NP_006000 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 199 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity 0 AAGGCACAATCAGAGTGCTCC 0.498 NaN 0 0 0 0.001855 0 12 103 KCNH3 23416 broad.mit.edu 37 12 49934725 49934725 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:49934725C>T uc001ruh.1 + 2 380 c.120C>T c.(118-120)TTC>TTT p.F40F KCNH3_uc010smj.1_5'UTR NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 40 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CGGGGCTCTTCCCCGTGGTCT 0.632 NaN 0 0 0 0.001368 0 9 72 KCNH3 23416 broad.mit.edu 37 12 49935417 49935417 + Silent SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:49935417C>A uc001ruh.1 + 3 575 c.315C>A c.(313-315)CTC>CTA p.L105L KCNH3_uc010smj.1_Silent_p.L45L NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 105 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 GCCCAGGGCTCCCGTTCTGGT 0.547 NaN 1 0 2.35188e-11 0.006122 2.50044e-11 16 151 LIMA1 51474 broad.mit.edu 37 12 50616148 50616148 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:50616148C>A uc001rwj.3 - 4 460 c.286G>T c.(286-288)GAG>TAG p.E96* LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Nonsense_Mutation_p.E96*|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 96 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 TGCCTAATCTCAGTGCTGCTG 0.527 NaN 1 0 4.96729e-08 0.008871 5.21686e-08 16 173 KRT6B 3854 broad.mit.edu 37 12 52845454 52845454 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:52845454C>G uc001sak.2 - 1 457 c.409G>C c.(409-411)GAG>CAG p.E137Q NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 137 Head. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) ACAGTGACCTCTTGGATGCCT 0.642 NaN 0 0 0 0.003163 0 12 176 KRT6A 3853 broad.mit.edu 37 12 52886480 52886480 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:52886480C>T uc001sam.2 - 1 702 c.493G>A c.(493-495)GAA>AAA p.E165K NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 165 Coil 1A.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGATCTGTTCACGCTCCTCA 0.592 NaN 0 0 0 0.00361 0 41 290 RARG 5916 broad.mit.edu 37 12 53607028 53607028 + Splice_Site SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:53607028C>T uc001sce.2 - 9 1504 c.1019_splice c.e9-1 p.D340_splice RARG_uc001scd.2_Splice_Site_p.D329_splice|RARG_uc010sob.1_Splice_Site_p.D318_splice|RARG_uc001scf.2_Splice_Site_p.D340_splice|RARG_uc001scg.2_Splice_Site_p.D268_splice|RARG_uc010soc.1_Splice_Site_p.D219_splice|RARG_uc010sod.1_3'UTR NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCATGCGGTCTATGGGGACA 0.607 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 7 64 TARBP2 6895 broad.mit.edu 37 12 53897505 53897505 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:53897505C>T uc001sdo.2 + 4 823 c.335C>T c.(334-336)TCT>TTT p.S112F TARBP2_uc009znb.2_Missense_Mutation_p.S112F|TARBP2_uc001sdp.2_Missense_Mutation_p.S91F|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_Intron|TARBP2_uc001sds.2_Missense_Mutation_p.S112F|TARBP2_uc001sdt.2_Missense_Mutation_p.S91F|TARBP2_uc001sdu.2_Intron|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 112 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 AGTTCTTTTTCTCCCCTAGAC 0.562 NaN 0 0 0 0.001368 0 10 106 NPFF 8620 broad.mit.edu 37 12 53900643 53900643 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:53900643C>T uc001sdw.1 - 3 423 c.259G>A c.(259-261)GAA>AAA p.E87K NM_003717 NP_003708 O15130 NPFF_HUMAN neuropeptide FF-amide peptide preproprotein 87 neuropeptide signaling pathway|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 CTCAGCCATTCATTCCTCCAG 0.552 NaN 0 0 0 0.005524 0 31 195 ITGA5 3678 broad.mit.edu 37 12 54795249 54795249 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:54795249C>T uc001sga.2 - 24 2469 c.2401G>A c.(2401-2403)GAG>AAG p.E801K NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 801 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 AGCACTGCCTCAGGCTTGGAG 0.567 NaN 0 0 0 0.00632 0 27 183 OR6C3 254786 broad.mit.edu 37 12 55726281 55726281 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:55726281C>T uc010spj.1 + 1 797 c.797C>T c.(796-798)TCA>TTA p.S266L NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAAAAGGCATCATTGACAAAA 0.383 NaN 0 0 0 0.009096 0 4 34 COQ10A 93058 broad.mit.edu 37 12 56663988 56663988 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:56663988G>C uc001sko.3 + 5 892 c.631G>C c.(631-633)GAT>CAT p.D211H COQ10A_uc001skp.3_Missense_Mutation_p.D179H|COQ10A_uc001skq.3_Missense_Mutation_p.D194H NM_144576 NP_653177 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A isoform a 211 mitochondrial inner membrane ovary(1) 1 CATGTTTTTTGATGAGGTTGT 0.493 NaN 0 0 0 0.003271 0 27 204 TIMELESS 8914 broad.mit.edu 37 12 56816720 56816720 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:56816720G>C uc001slf.2 - 19 2517 c.2349C>G c.(2347-2349)GTC>GTG p.V783V NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 783 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CTTTTTGGTTGACTGCAGCCA 0.493 NaN 0 0 0 0.00308 0 6 85 TIMELESS 8914 broad.mit.edu 37 12 56817142 56817142 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:56817142G>C uc001slf.2 - 18 2376 c.2208C>G c.(2206-2208)CTC>CTG p.L736L NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 736 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CTTCCATTTTGAGGTCATGGG 0.507 NaN 0 0 0 0.001984 0 6 109 TIMELESS 8914 broad.mit.edu 37 12 56817207 56817207 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:56817207G>C uc001slf.2 - 18 2311 c.2143C>G c.(2143-2145)CAG>GAG p.Q715E NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 715 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CTATTCTGCTGGTAGCTCCTT 0.488 NaN 0 0 0 0.000602 0 5 103 TIMELESS 8914 broad.mit.edu 37 12 56827390 56827390 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:56827390G>A uc001slf.2 - 4 466 c.298C>T c.(298-300)CTG>TTG p.L100L TIMELESS_uc001slg.2_Silent_p.L100L NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 100 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TCCTTAGGCAGATTGCCAAAA 0.483 NaN 0 0 0 0.00245 0 14 80 STAT6 6778 broad.mit.edu 37 12 57501056 57501056 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:57501056G>C uc009zpe.2 - 4 548 c.297C>G c.(295-297)TTC>TTG p.F99L STAT6_uc009zpf.2_Missense_Mutation_p.F99L|STAT6_uc001sna.2_Missense_Mutation_p.F99L|STAT6_uc010srb.1_5'UTR|STAT6_uc010src.1_5'UTR|STAT6_uc010srd.1_5'UTR|STAT6_uc009zpg.2_Missense_Mutation_p.F148L NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 99 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 GTATTTGTCTGAAAGTGGCCA 0.478 NaN 0 0 0 0.00499 0 14 107 LRP1 4035 broad.mit.edu 37 12 57586683 57586683 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:57586683C>T uc001snd.2 + 45 7951 c.7485C>T c.(7483-7485)CTC>CTT p.L2495L MIR1228_hsa-mir-1228|MI0006318_5'Flank NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2495 EGF-like 10.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTGTCTGCTCACTCACCAGG 0.647 NaN 0 0 0 0.00874 0 40 323 R3HDM2 22864 broad.mit.edu 37 12 57677750 57677750 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:57677750C>T uc009zpm.1 - 11 1021 c.986G>A c.(985-987)AGC>AAC p.S329N R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_5'UTR|R3HDM2_uc001snr.2_Missense_Mutation_p.S56N|R3HDM2_uc001sns.2_Missense_Mutation_p.S329N|R3HDM2_uc001snt.2_Missense_Mutation_p.S343N NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 329 Ser-rich. nucleus nucleic acid binding ovary(2) 2 GTCTGTGCTGCTCCAAGGGCG 0.597 NaN 0 0 0 0.004482 0 9 47 GLI1 2735 broad.mit.edu 37 12 57865639 57865639 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:57865639C>T uc001snx.2 + 12 3194 c.3116C>T c.(3115-3117)TCT>TTT p.S1039F GLI1_uc009zpq.2_Missense_Mutation_p.S911F NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 1039 Asp/Glu-rich (acidic). epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CCCCTGGACTCTCTTGATCTT 0.592 NaN 0 0 0 0.00361 0 42 251 GEFT 115557 broad.mit.edu 37 12 58010154 58010154 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:58010154G>T uc001spb.2 + 14 1968 c.1508G>T c.(1507-1509)GGA>GTA p.G503V GEFT_uc009zpy.2_Missense_Mutation_p.G542V|GEFT_uc001spa.2_Missense_Mutation_p.G397V|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.G208V NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 503 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) GGGAGCCCTGGAAGAATTCAG 0.607 NaN 1 0 4.75885e-15 0.00499 5.1013e-15 17 77 XPOT 11260 broad.mit.edu 37 12 64812872 64812872 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:64812872G>C uc001ssb.2 + 6 913 c.487G>C c.(487-489)GAG>CAG p.E163Q XPOT_uc009zqm.1_Missense_Mutation_p.E73Q NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 163 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GCATACATCAGAGGCAAGTAA 0.393 NaN 0 0 0 0.001368 0 11 91 XPOT 11260 broad.mit.edu 37 12 64833030 64833030 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:64833030G>A uc001ssb.2 + 23 3166 c.2740G>A c.(2740-2742)GAA>AAA p.E914K NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 914 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TCAGGGCCCAGAATGTGTTCA 0.323 NaN 0 0 0 0.008291 0 7 59 HELB 92797 broad.mit.edu 37 12 66703693 66703693 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:66703693C>T uc001sti.2 + 4 1013 c.985C>T c.(985-987)CAT>TAT p.H329Y HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 329 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TATGTCATTTCATGCTGCTTC 0.383 NaN 0 0 0 0.008291 0 10 69 NAV3 89795 broad.mit.edu 37 12 78513293 78513293 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:78513293C>T uc001syp.2 + 15 3490 c.3317C>T c.(3316-3318)TCA>TTA p.S1106L NAV3_uc001syo.2_Missense_Mutation_p.S1106L|NAV3_uc010sub.1_Missense_Mutation_p.S606L|NAV3_uc009zsf.2_Missense_Mutation_p.S114L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1106 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GGCGGGAAGTCAAATGCAGGG 0.483 NaN HNSCC(70;0.22) 0 0 0 0.003163 0 13 67 ACSS3 79611 broad.mit.edu 37 12 81472105 81472105 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:81472105C>A uc001szl.1 + 1 297 c.206C>A c.(205-207)TCG>TAG p.S69* ACSS3_uc001szm.1_Nonsense_Mutation_p.S69* NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 69 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TTCGCAGCCTCGGTGACCGAC 0.657 NaN 1 0 0.000442599 0.006214 0.000454164 9 90 MYBPC1 4604 broad.mit.edu 37 12 102057224 102057224 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:102057224C>T uc001tii.2 + 20 2269 c.2167C>T c.(2167-2169)CTT>TTT p.L723F MYBPC1_uc001tig.2_Missense_Mutation_p.L748F|MYBPC1_uc010svq.1_Missense_Mutation_p.L710F|MYBPC1_uc001tih.2_Missense_Mutation_p.L748F|MYBPC1_uc001tij.2_Missense_Mutation_p.L723F|MYBPC1_uc010svr.1_Missense_Mutation_p.L723F|MYBPC1_uc010svs.1_Missense_Mutation_p.L723F|MYBPC1_uc010svt.1_Missense_Mutation_p.L711F|MYBPC1_uc010svu.1_Missense_Mutation_p.L704F|MYBPC1_uc001tik.2_Missense_Mutation_p.L697F|MYBPC1_uc001til.2_5'Flank|MYBPC1_uc001tim.2_5'Flank NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 723 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 CCCTCCTACTCTTCTGACTGT 0.458 NaN 0 0 0 0.004007 0 14 96 SART3 9733 broad.mit.edu 37 12 108954849 108954849 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:108954849C>T uc001tmz.1 - 1 317 c.82G>A c.(82-84)GAG>AAG p.E28K SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.E28K|SART3_uc010swz.1_Missense_Mutation_p.E28K|SART3_uc001tna.1_RNA|SART3_uc001tnb.2_Missense_Mutation_p.E28K|ISCU_uc010sxa.1_5'Flank|ISCU_uc010sxb.1_5'Flank|ISCU_uc001tnc.3_5'Flank|ISCU_uc010sxc.1_5'Flank|ISCU_uc009zuy.2_5'Flank|ISCU_uc010sxd.1_5'Flank NM_014706 NP_055521 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T 28 Potential. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding pancreas(1) 1 GCCTTAACCTCATCCTCCTCT 0.612 NaN Porokeratosis 0 0 0 0.00499 0 13 103 CUX2 23316 broad.mit.edu 37 12 111758298 111758298 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:111758298G>A uc001tsa.1 + 17 2638 c.2485G>A c.(2485-2487)GAG>AAG p.E829K NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 829 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CCGCGGGGACGAGGCCCCTGT 0.771 NaN 0 0 0 0.000602 0 4 19 ATXN2 6311 broad.mit.edu 37 12 111957800 111957800 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:111957800G>C uc001tsj.2 - 8 1511 c.1349C>G c.(1348-1350)TCA>TGA p.S450* ATXN2_uc001tsh.2_Nonsense_Mutation_p.S185*|ATXN2_uc001tsi.2_Nonsense_Mutation_p.S161*|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Nonsense_Mutation_p.S185* NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 450 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CTGGGCACTTGACTCAATTTC 0.428 NaN 0 0 0 0.009096 0 4 45 C12orf51 283450 broad.mit.edu 37 12 112707527 112707527 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:112707527C>T uc009zwc.2 - 6 1024 c.1006G>A c.(1006-1008)GAA>AAA p.E336K C12orf51_uc010syk.1_Missense_Mutation_p.E159K|C12orf51_uc001tts.2_Missense_Mutation_p.E159K|C12orf51_uc001ttt.3_Missense_Mutation_p.E159K NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 AGGCAGACTTCCTTCTGAATT 0.423 NaN 0 0 0 0.009096 0 3 19 TBX3 6926 broad.mit.edu 37 12 115112445 115112445 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:115112445G>A uc001tvt.1 - 7 2259 c.1295C>T c.(1294-1296)TCG>TTG p.S432L TBX3_uc001tvu.1_Missense_Mutation_p.S412L NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 432 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TGAGTCGGGCGACGCTTTGTC 0.731 NaN 0 0 0 0.006214 0 8 28 PRKAB1 5564 broad.mit.edu 37 12 120118103 120118103 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:120118103C>T uc009zwu.2 + 8 889 c.786C>T c.(784-786)GTC>GTT p.V262V PRKAB1_uc001txg.2_Silent_p.V262V NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 262 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) AGAAGTACGTCACCACCTTGT 0.527 NaN 0 0 0 0.00308 0 6 45 CIT 11113 broad.mit.edu 37 12 120220372 120220372 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:120220372G>A uc001txi.1 - 13 1668 c.1615C>T c.(1615-1617)CTC>TTC p.L539F CIT_uc001txh.1_Missense_Mutation_p.L73F|CIT_uc001txj.1_Missense_Mutation_p.L539F NM_007174 NP_009105 O14578 CTRO_HUMAN citron 539 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATATCATGGAGAAGCTGCAGT 0.512 NaN 0 0 0 0.004482 0 7 64 GCN1L1 10985 broad.mit.edu 37 12 120592798 120592798 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:120592798G>C uc001txo.2 - 31 3690 c.3677C>G c.(3676-3678)TCT>TGT p.S1226C NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1226 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATCTGGAGGAGATTCTGAAAT 0.532 NaN 0 0 0 0.001855 0 13 103 DENR 8562 broad.mit.edu 37 12 123253411 123253411 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:123253411C>T uc001uda.2 + 7 631 c.495C>T c.(493-495)ATC>ATT p.I165I DENR_uc010tag.1_Intron|DENR_uc001udb.2_Silent_p.I119I NM_003677 NP_003668 O43583 DENR_HUMAN density-regulated protein 165 SUI1. protein binding|translation initiation factor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199) ATGAAATTATCATTCAGGGAG 0.343 NaN 0 0 0 0.009096 0 3 15 MPHOSPH9 10198 broad.mit.edu 37 12 123665727 123665727 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:123665727C>G uc001uel.2 - 10 1923 c.1816G>C c.(1816-1818)GAA>CAA p.E606Q MPHOSPH9_uc010tal.1_Missense_Mutation_p.E60Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E60Q NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 606 Potential. M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CTCCTGTGTTCTTTTCCAAGG 0.219 NaN 0 0 0 0.001984 0 5 54 TCTN2 79867 broad.mit.edu 37 12 124158295 124158295 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:124158295C>T uc001ufp.2 + 4 529 c.401C>T c.(400-402)TCA>TTA p.S134L TCTN2_uc009zya.2_Missense_Mutation_p.S133L NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 134 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TCATCCTGTTCAGCACATCTA 0.448 NaN 0 0 0 0.009718 0 34 159 DNAH10 196385 broad.mit.edu 37 12 124409711 124409711 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:124409711C>T uc001uft.3 + 67 11552 c.11527C>T c.(11527-11529)CGG>TGG p.R3843W DNAH10_uc001ufu.3_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3843 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCGGGTCTATCGGGCCGTGAC 0.498 NaN 0 0 0 0.00499 0 14 102 GPR133 283383 broad.mit.edu 37 12 131471689 131471689 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:131471689G>A uc001uit.3 + 6 1099 c.540G>A c.(538-540)CTG>CTA p.L180L GPR133_uc010tbm.1_Silent_p.L212L NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 180 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AGGAGGGCCTGAAAGTCTACG 0.517 NaN 0 0 0 0.008291 0 9 63 ANKLE2 23141 broad.mit.edu 37 12 133327436 133327436 + Splice_Site SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr12:133327436C>G uc001ukx.2 - 3 708 c.641_splice c.e3-1 p.E214_splice ANKLE2_uc001uky.3_Splice_Site_p.E152_splice NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TAGATCCTTTCTGGGTAAGAA 0.433 NaN 0 0 0 0.000602 0 4 28 SAP18 10284 broad.mit.edu 37 13 21721357 21721357 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:21721357G>C uc001uns.2 + 4 434 c.395G>C c.(394-396)AGA>ACA p.R132T NM_005870 NP_005861 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 113 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity 0 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) ATGTCTGGCAGAAAGGGGACT 0.443 NaN 0 0 0 0.007413 0 15 101 PARP4 143 broad.mit.edu 37 13 25067846 25067846 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:25067846G>C uc001upl.2 - 8 873 c.767C>G c.(766-768)TCA>TGA p.S256* PARP4_uc010tdc.1_Nonsense_Mutation_p.S256* NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 256 PARP alpha-helical. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CAGAGTGCTTGAATTCATGAC 0.438 NaN 0 0 0 0.004007 0 13 37 PARP4 143 broad.mit.edu 37 13 25077788 25077788 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:25077788G>C uc001upl.2 - 2 233 c.127C>G c.(127-129)CCT>GCT p.P43A PARP4_uc010tdc.1_Missense_Mutation_p.P43A NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 43 BRCT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AATACCTGAGGATTTAACGAA 0.398 NaN 0 0 0 0.008291 0 7 65 WASF3 10810 broad.mit.edu 37 13 27239225 27239225 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:27239225G>A uc001uqv.2 + 4 419 c.194G>A c.(193-195)AGA>AAA p.R65K WASF3_uc001uqw.2_Missense_Mutation_p.R65K NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 65 Potential. actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TTCTACATCAGAGCAAATTCT 0.423 NaN 0 0 0 0.008291 0 10 65 LNX2 222484 broad.mit.edu 37 13 28141891 28141891 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:28141891G>A uc001url.3 - 4 1050 c.741C>T c.(739-741)ATC>ATT p.I247I LNX2_uc001urm.1_Silent_p.I247I NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 247 PDZ 1. zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CCACAATGCTGATTCCTAACT 0.458 NaN 0 0 0 0.001168 0 6 53 USPL1 10208 broad.mit.edu 37 13 31233420 31233420 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:31233420C>T uc001utc.2 + 9 3638 c.3206C>T c.(3205-3207)TCA>TTA p.S1069L USPL1_uc001utd.2_Missense_Mutation_p.S740L|USPL1_uc001ute.1_Missense_Mutation_p.S740L NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 1069 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TTTTCCTCCTCAGCATTAAAT 0.343 NaN 0 0 0 0.000602 0 5 39 FRY 10129 broad.mit.edu 37 13 32709061 32709061 + Silent SNP C C T rs34037604 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:32709061C>T uc001utx.2 + 9 1402 c.906C>T c.(904-906)CTC>CTT p.L302L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATTACTTCCTCGAGGTCAAAG 0.388 NaN 0 0 0 0.003271 0 22 126 FRY 10129 broad.mit.edu 37 13 32721489 32721489 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:32721489G>A uc001utx.2 + 12 1746 c.1250G>A c.(1249-1251)CGA>CAA p.R417Q FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TACATGATTCGAATTAAATGT 0.398 NaN 0 0 0 0.004672 0 3 27 N4BP2L2 10443 broad.mit.edu 37 13 33017213 33017213 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:33017213C>T uc010abe.1 - 7 1483 c.1461G>A c.(1459-1461)AGG>AGA p.R487R N4BP2L2_uc001uug.2_Silent_p.R370R|N4BP2L2_uc010abd.1_Silent_p.R400R|N4BP2L2_uc001uuh.2_Silent_p.R318R|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.R472R NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 140 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TTTTCTTCCTCCTTTTCTTAT 0.343 NaN 0 0 0 0.001168 0 4 15 STARD13 90627 broad.mit.edu 37 13 33700224 33700224 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:33700224G>C uc001uuw.2 - 7 2202 c.2076C>G c.(2074-2076)CTC>CTG p.L692L STARD13_uc001uuu.2_Silent_p.L684L|STARD13_uc001uuv.2_Silent_p.L574L|STARD13_uc001uux.2_Silent_p.L657L|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 692 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTACCTGATCGAGGCAGTTGC 0.552 NaN 0 0 0 0.006122 0 15 107 FREM2 341640 broad.mit.edu 37 13 39433625 39433625 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:39433625C>T uc001uwv.2 + 14 7726 c.7417C>T c.(7417-7419)CAG>TAG p.Q2473* FREM2_uc001uww.2_Nonsense_Mutation_p.Q559* NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2473 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) CATATACTTTCAGCCTGGCTC 0.542 NaN 0 0 0 0.003163 0 13 80 KBTBD7 84078 broad.mit.edu 37 13 41767323 41767323 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:41767323G>C uc001uxw.1 - 1 1380 c.1071C>G c.(1069-1071)CTC>CTG p.L357L uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 357 protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GGTCATAGCAGAGAAAGGGAT 0.493 NaN 0 0 0 0.004482 0 3 38 TSC22D1 8848 broad.mit.edu 37 13 45148962 45148962 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:45148962C>G uc001uzn.3 - 1 1740 c.1249G>C c.(1249-1251)GAG>CAG p.E417Q TSC22D1_uc001uzo.1_Missense_Mutation_p.E417Q NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 417 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TTAAAGGGCTCAGAACTAGAA 0.438 NaN 0 0 0 0.00245 0 13 67 KIAA1704 55425 broad.mit.edu 37 13 45589108 45589108 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:45589108G>C uc001uzq.2 + 5 533 c.430G>C c.(430-432)GAG>CAG p.E144Q KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Missense_Mutation_p.E144Q|KIAA1704_uc001uzs.2_Missense_Mutation_p.E21Q|KIAA1704_uc001uzt.2_5'UTR NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN hypothetical protein LOC55425 144 pancreas(1)|skin(1) 2 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) CAGTGAAGATGAGGATATTAT 0.348 NaN 0 0 0 0.001855 0 10 48 C13orf18 80183 broad.mit.edu 37 13 46942258 46942258 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:46942258G>A uc010acl.2 - 5 1350 c.745C>T c.(745-747)CAG>TAG p.Q249* C13orf18_uc001vbf.3_Nonsense_Mutation_p.Q182*|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Nonsense_Mutation_p.Q92*|C13orf18_uc010acm.2_Nonsense_Mutation_p.Q114*|C13orf18_uc010acn.2_Nonsense_Mutation_p.Q34*|C13orf18_uc001vbe.3_Nonsense_Mutation_p.Q249*|C13orf18_uc001vbh.3_Nonsense_Mutation_p.Q249*|C13orf18_uc001vbi.3_Nonsense_Mutation_p.Q92*|C13orf18_uc010aco.1_Nonsense_Mutation_p.Q249* NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 249 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) GAGTCAGGCTGATCACTCCCA 0.408 NaN 0 0 0 0.010504 0 16 83 LRCH1 23143 broad.mit.edu 37 13 47263286 47263286 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:47263286G>C uc001vbj.2 + 7 1205 c.969G>C c.(967-969)TCG>TCC p.S323S LRCH1_uc010acp.2_Silent_p.S323S|LRCH1_uc001vbk.2_Silent_p.S323S|LRCH1_uc001vbl.3_Silent_p.S323S NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 323 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) ATTCTGATTCGGGAGTTGGAA 0.343 NaN 0 0 0 0.013114 0 34 102 LRCH1 23143 broad.mit.edu 37 13 47263293 47263293 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:47263293G>A uc001vbj.2 + 7 1212 c.976G>A c.(976-978)GGA>AGA p.G326R LRCH1_uc010acp.2_Missense_Mutation_p.G326R|LRCH1_uc001vbk.2_Missense_Mutation_p.G326R|LRCH1_uc001vbl.3_Missense_Mutation_p.G326R NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 326 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TTCGGGAGTTGGAAGTGATAA 0.353 NaN 0 0 0 0.00361 0 32 109 PHF11 51131 broad.mit.edu 37 13 50080827 50080827 + Missense_Mutation SNP G G A rs73188692 by1000genomes TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:50080827G>A uc001vdb.2 + 2 488 c.151G>A c.(151-153)GAT>AAT p.D51N PHF11_uc010tgl.1_Missense_Mutation_p.D51N|PHF11_uc001vdc.2_Missense_Mutation_p.D12N|PHF11_uc001vdd.2_RNA NM_001040443 NP_001035533 Q9UIL8 PHF11_HUMAN PHD finger protein 11 isoform a 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) CTGCCCCAAAGATGTCGAATA 0.363 NaN 0 0 0 0.008291 0 8 48 TBC1D4 9882 broad.mit.edu 37 13 75861065 75861065 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:75861065C>G uc001vjl.1 - 21 4107 c.3760G>C c.(3760-3762)GAA>CAA p.E1254Q TBC1D4_uc010tht.1_Missense_Mutation_p.E464Q|TBC1D4_uc010thu.1_Missense_Mutation_p.E411Q|TBC1D4_uc010aer.2_Missense_Mutation_p.E1246Q|TBC1D4_uc010aes.2_Missense_Mutation_p.E1191Q NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1254 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GCCATTTTTTCTTGTTCCAGG 0.453 NaN 0 0 0 0.001168 0 4 40 RBM26 64062 broad.mit.edu 37 13 79942973 79942973 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:79942973G>T uc001vkz.2 - 6 801 c.787C>A c.(787-789)CAT>AAT p.H263N RBM26_uc001vky.2_Missense_Mutation_p.H263N|RBM26_uc001vla.2_Missense_Mutation_p.H263N|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 263 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTGTTTCCATGATGAGTAGGA 0.418 NaN 1 0 2.17888e-05 0.006214 2.25545e-05 7 74 RBM26 64062 broad.mit.edu 37 13 79943032 79943032 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:79943032G>C uc001vkz.2 - 6 742 c.728C>G c.(727-729)TCT>TGT p.S243C RBM26_uc001vky.2_Missense_Mutation_p.S243C|RBM26_uc001vla.2_Missense_Mutation_p.S243C|RBM26_uc001vkx.2_Translation_Start_Site|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 243 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTAGTGGCCAGATGAAATACT 0.393 NaN 0 0 0 0.010729 0 8 80 SLITRK5 26050 broad.mit.edu 37 13 88328435 88328435 + Nonsense_Mutation SNP T T A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:88328435T>A uc001vln.2 + 2 1011 c.792T>A c.(790-792)TGT>TGA p.C264* SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 264 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATGTAGTTTGTGAGACCCCCT 0.507 NaN 0 0 0 0.006214 0 6 123 C13orf39 196541 broad.mit.edu 37 13 103343304 103343304 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:103343304C>G uc001vpj.2 - 2 147 c.141G>C c.(139-141)AAG>AAC p.K47N C13orf39_uc001vpk.2_Missense_Mutation_p.K47N NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN hypothetical protein LOC196541 47 methyltransferase activity 0 ATGGTTCTATCTTGTTGGATT 0.393 NaN 0 0 0 0.008291 0 9 68 MYO16 23026 broad.mit.edu 37 13 109535458 109535458 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:109535458C>G uc001vqt.1 + 13 1537 c.1411C>G c.(1411-1413)CCT>GCT p.P471A MYO16_uc010agk.1_Missense_Mutation_p.P493A|MYO16_uc001vqu.1_Missense_Mutation_p.P271A NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 471 Myosin head-like 1. 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) CTCGCTGCCTCCTCACCTCTT 0.562 NaN 0 0 0 0.002299 0 19 177 COL4A2 1284 broad.mit.edu 37 13 110960258 110960258 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:110960258G>A uc001vqx.2 + 2 297 c.8G>A c.(7-9)AGA>AAA p.R3K COL4A1_uc001vqw.3_5'Flank|COL4A1_uc010agl.2_5'Flank NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 3 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGCATGGGGAGAGACCAGCGC 0.662 NaN 0 0 0 0.00245 0 10 86 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 NaN 0 0 0 0.004672 0 3 20 OR4K15 81127 broad.mit.edu 37 14 20444469 20444469 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:20444469G>A uc010tkx.1 + 1 792 c.792G>A c.(790-792)TTG>TTA p.L264L NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 264 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTCCACATTGACTGCTCACA 0.463 NaN 0 0 0 0.000602 0 4 28 FITM1 161247 broad.mit.edu 37 14 24601689 24601689 + Missense_Mutation SNP G G A rs147303563 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:24601689G>A uc001wmf.2 + 2 634 c.536G>A c.(535-537)CGA>CAA p.R179Q NM_203402 NP_981947 A5D6W6 FITM1_HUMAN fat-inducing transcript 1 179 Extracellular (Potential). lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane 0 CACCAGTGGCGAGGCTACACC 0.652 NaN 0 0 0 0.00499 0 14 94 DHRS1 115817 broad.mit.edu 37 14 24768168 24768168 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:24768168G>A uc001woj.1 - 2 414 c.145C>T c.(145-147)CAG>TAG p.Q49* C14orf21_uc001wol.1_5'Flank|DHRS1_uc001wok.2_Nonsense_Mutation_p.Q49* NM_138452 NP_612461 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 49 endoplasmic reticulum binding|oxidoreductase activity 0 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) CTCACCTCCTGAGCAACAACG 0.547 NaN 0 0 0 0.010504 0 19 94 STXBP6 29091 broad.mit.edu 37 14 25288302 25288302 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:25288302C>G uc001wpu.2 - 5 1265 c.550G>C c.(550-552)GAG>CAG p.E184Q STXBP6_uc001wpv.2_Missense_Mutation_p.E184Q|STXBP6_uc001wpw.2_Missense_Mutation_p.E184Q|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.E82Q NM_014178 NP_054897 Q8NFX7 STXB6_HUMAN amisyn 184 v-SNARE coiled-coil homology. vesicle-mediated transport cytoplasm|integral to membrane 0 GBM - Glioblastoma multiforme(265;0.0296) GTCTTCTCCTCTGCTCGGCCT 0.572 NaN 0 0 0 0.012319 0 17 126 SCFD1 23256 broad.mit.edu 37 14 31177222 31177222 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:31177222G>C uc001wqm.1 + 19 1604 c.1580G>C c.(1579-1581)GGA>GCA p.G527A SCFD1_uc001wqn.1_Missense_Mutation_p.G460A|SCFD1_uc010tpg.1_Missense_Mutation_p.G468A|SCFD1_uc010tph.1_Missense_Mutation_p.G342A|SCFD1_uc010amf.1_Missense_Mutation_p.G342A|SCFD1_uc010tpi.1_Missense_Mutation_p.G435A|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Missense_Mutation_p.G460A NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 527 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) ATGAATACAGGATCACAGTTT 0.358 NaN 0 0 0 0.010729 0 9 57 AKAP6 9472 broad.mit.edu 37 14 33292806 33292806 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:33292806G>C uc001wrq.2 + 13 5957 c.5787G>C c.(5785-5787)GAG>GAC p.E1929D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1929 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGATTTCAGAGAGTGAGCATT 0.373 NaN 0 0 0 0.001168 0 6 28 FAM179B 23116 broad.mit.edu 37 14 45433339 45433339 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:45433339G>A uc001wvv.2 + 1 1924 c.1715G>A c.(1714-1716)AGA>AAA p.R572K FAM179B_uc001wvw.2_Missense_Mutation_p.R572K|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R572K|FAM179B_uc001wvu.2_Missense_Mutation_p.R572K NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 572 binding skin(2)|upper_aerodigestive_tract(1) 3 GTGCAGGCCAGATTGGCTAGG 0.468 NaN 0 0 0 0.003163 0 14 118 C14orf104 55172 broad.mit.edu 37 14 50100987 50100987 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:50100987G>A uc001wws.3 - 1 962 c.881C>T c.(880-882)TCG>TTG p.S294L SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.S294L NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 294 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CTGCTCGGCCGAGCGCAACAG 0.657 NaN Kartagener_syndrome 0 0 0 0.006122 0 12 64 PYGL 5836 broad.mit.edu 37 14 51411041 51411041 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:51411041C>G uc001wyu.2 - 1 208 c.81G>C c.(79-81)GAG>GAC p.E27D PYGL_uc010tqq.1_Missense_Mutation_p.E27D|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.E27D NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 27 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TCTTCTTCAGCTCTGCCACGT 0.607 NaN 0 0 0 0.001368 0 10 78 GPR137C 283554 broad.mit.edu 37 14 53020091 53020091 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:53020091G>A uc001wzu.3 + 1 226 c.226G>A c.(226-228)GAG>AAG p.E76K TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Missense_Mutation_p.E76K NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 76 Cytoplasmic (Potential). integral to membrane 0 Breast(41;0.0716) CCTGTACCGCGAGCGGCGGCT 0.677 NaN 0 0 0 0.001168 0 3 17 DLGAP5 9787 broad.mit.edu 37 14 55618639 55618639 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:55618639C>G uc001xbs.2 - 17 2359 c.2142G>C c.(2140-2142)TTG>TTC p.L714F DLGAP5_uc001xbt.2_Missense_Mutation_p.L714F NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 714 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 AATCCACCTTCAAGTCTGTCT 0.303 NaN 0 0 0 0.00308 0 5 39 JKAMP 51528 broad.mit.edu 37 14 59965517 59965517 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:59965517G>A uc001xei.3 + 5 1075 c.573G>A c.(571-573)AAG>AAA p.K191K JKAMP_uc001xef.3_Silent_p.K177K|JKAMP_uc001xeh.3_Silent_p.K171K|JKAMP_uc001xeg.3_Silent_p.K185K|JKAMP_uc010try.1_Silent_p.K114K|JKAMP_uc001xej.3_Silent_p.K114K NM_001098625 NP_001092095 Q9P055 JKAMP_HUMAN JNK1-associated membrane protein isoform 2 192 Cytoplasmic (Potential). ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1) 1 TTCTGGTGAAGAAGATTGCAT 0.363 NaN 0 0 0 0.001168 0 4 22 RDH11 51109 broad.mit.edu 37 14 68159246 68159246 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:68159246C>T uc001xjv.3 - 3 348 c.258G>A c.(256-258)CAG>CAA p.Q86Q RDH11_uc001xjw.3_Silent_p.Q73Q|RDH11_uc001xjx.3_Silent_p.Q86Q NM_016026 NP_057110 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 86 Cytoplasmic (Potential). retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) CTGTCGTGGTCTGGATCTCTT 0.488 NaN 0 0 0 0.00361 0 36 214 HEATR4 399671 broad.mit.edu 37 14 73959790 73959790 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:73959790C>T uc010tua.1 - 17 3093 c.2683G>A c.(2683-2685)GAC>AAC p.D895N C14orf169_uc001xok.1_3'UTR NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) GCTTCAGTGTCACAAACCTCG 0.398 NaN 0 0 0 0.008291 0 7 82 HEATR4 399671 broad.mit.edu 37 14 73959826 73959826 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:73959826C>T uc010tua.1 - 17 3057 c.2647G>A c.(2647-2649)GAG>AAG p.E883K C14orf169_uc001xok.1_3'UTR NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) AGAACCATCTCATCTAGGTAC 0.433 NaN 0 0 0 0.000602 0 4 52 LTBP2 4053 broad.mit.edu 37 14 75078187 75078187 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:75078187G>A uc001xqa.2 - 1 848 c.461C>T c.(460-462)GCG>GTG p.A154V NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 154 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGTTGGGGGCGCAGCCCCAGA 0.726 NaN 0 0 0 0.001984 0 6 59 TTLL5 23093 broad.mit.edu 37 14 76211452 76211452 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:76211452C>G uc001xrx.2 + 16 1501 c.1296C>G c.(1294-1296)CTC>CTG p.L432L TTLL5_uc010ask.1_Silent_p.L446L|TTLL5_uc001xrz.2_5'UTR|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 432 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GCCGTCCACTCTCTGCCAGTG 0.458 NaN 0 0 0 0.00308 0 7 20 C14orf148 122945 broad.mit.edu 37 14 77872309 77872309 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:77872309C>G uc001xtr.2 - 5 999 c.852G>C c.(850-852)TTG>TTC p.L284F NM_001113475 NP_001106946 Q6NXP6 CN148_HUMAN hypothetical protein LOC122945 isoform 1 284 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) CTGTTAATTGCAACTTTGGGC 0.473 NaN 0 0 0 0.000602 0 3 27 NDUFB1 4707 broad.mit.edu 37 14 92588065 92588065 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:92588065C>T uc001yaf.2 - 1 89 c.57G>A c.(55-57)CCG>CCA p.P19P NDUFB1_uc001yag.1_RNA|CPSF2_uc001yah.1_5'Flank NM_004545 NP_004536 O75438 NDUB1_HUMAN NADH dehydrogenase (ubiquinone) 1 beta Error:Variant_position_missing_in_O75438_after_alignment mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.205) NADH(DB00157) GCTGCGACCTCGGGACCTGCC 0.612 NaN 0 0 0 0.004007 0 13 94 BTBD7 55727 broad.mit.edu 37 14 93730309 93730309 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:93730309G>A uc001ybo.2 - 4 1519 c.1193C>T c.(1192-1194)TCA>TTA p.S398L BTBD7_uc010aur.2_Intron|BTBD7_uc010two.1_Intron|BTBD7_uc001ybp.2_Missense_Mutation_p.S47L|BTBD7_uc001ybq.3_Missense_Mutation_p.S313L NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 398 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GGTATCTAATGAGATGCTCTC 0.388 NaN 0 0 0 0.006214 0 7 58 KIAA1409 57578 broad.mit.edu 37 14 94088398 94088398 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:94088398C>T uc001ybv.1 + 28 4437 c.4354C>T c.(4354-4356)CTG>TTG p.L1452L KIAA1409_uc001ybs.1_Silent_p.L1430L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1607 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GGATTTAGATCTGATAGATCT 0.473 NaN 0 0 0 0.00245 0 12 72 KIAA1409 57578 broad.mit.edu 37 14 94128992 94128992 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:94128992C>T uc001ybv.1 + 39 6303 c.6220C>T c.(6220-6222)CAG>TAG p.Q2074* KIAA1409_uc001ybs.1_Nonsense_Mutation_p.Q2052* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2229 Helical; (Potential). integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTTTGTAATTCAGAATGCCGT 0.418 NaN 0 0 0 0.001168 0 5 29 HSP90AA1 3320 broad.mit.edu 37 14 102552649 102552649 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:102552649G>A uc001yku.3 - 2 257 c.67C>T c.(67-69)CAG>TAG p.Q23* HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.Q145*|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Nonsense_Mutation_p.Q12* NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 23 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) ATTTCTGCCTGAAAGGCGAAC 0.468 NaN 0 0 0 0.00245 0 10 91 KLC1 3831 broad.mit.edu 37 14 104121117 104121117 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:104121117C>T uc001yno.2 + 2 524 c.216C>T c.(214-216)ATC>ATT p.I72I KLC1_uc010tyd.1_Silent_p.I231I|KLC1_uc010tye.1_Silent_p.I68I|KLC1_uc001ynm.1_Silent_p.I72I|KLC1_uc001ynn.1_Silent_p.I68I|KLC1_uc010tyf.1_Silent_p.I72I NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 72 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) CAAACATGATCCGGAAGTCAC 0.423 NaN 0 0 0 0.008291 0 9 61 KIAA0284 283638 broad.mit.edu 37 14 105354098 105354098 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:105354098G>A uc010axb.2 + 12 3746 c.3522G>A c.(3520-3522)CGG>CGA p.R1174R INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.R1104R|KIAA0284_uc001yps.2_Silent_p.R1080R|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1174 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CCATGCCCCGGAAGCGGGCCG 0.692 NaN 0 0 0 0.001168 0 5 12 AHNAK2 113146 broad.mit.edu 37 14 105405994 105405994 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr14:105405994G>A uc010axc.1 - 7 15914 c.15794C>T c.(15793-15795)TCC>TTC p.S5265F AHNAK2_uc001ypx.2_Missense_Mutation_p.S5165F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5265 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AATATCTGTGGATGATTTGCT 0.512 NaN 0 0 0 0.008871 0 18 114 MKRN3 7681 broad.mit.edu 37 15 23811991 23811991 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:23811991G>C uc001ywh.3 + 1 1538 c.1062G>C c.(1060-1062)GAG>GAC p.E354D MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E354D NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 354 RING-type. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GACAGTTTGAGAACAGGATCG 0.507 NaN 0 0 0 0.003163 0 15 144 INO80 54617 broad.mit.edu 37 15 41362724 41362724 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:41362724C>T uc001zni.2 - 13 1840 c.1627G>A c.(1627-1629)GAT>AAT p.D543N INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 543 ATP (By similarity).|Helicase ATP-binding.|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 CCCATTTCATCAGCAAGAATG 0.408 NaN 0 0 0 0.005443 0 21 61 OIP5 11339 broad.mit.edu 37 15 41624585 41624585 + Missense_Mutation SNP C C T rs148616469 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:41624585C>T uc001znp.2 - 1 235 c.175G>A c.(175-177)GAG>AAG p.E59K NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank NM_007280 NP_009211 O43482 MS18B_HUMAN Opa interacting protein 5 59 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCGGCTGGCTCCTCAGCCCCC 0.672 NaN 0 0 0 0.00632 0 21 48 MGA 23269 broad.mit.edu 37 15 42058963 42058963 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:42058963G>A uc010ucy.1 + 24 8864 c.8683G>A c.(8683-8685)GAC>AAC p.D2895N MGA_uc010ucz.1_Missense_Mutation_p.D2686N NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2856 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGGGGAGAGTGACTCTATCAG 0.463 NaN 0 0 0 0.00333 0 19 59 CAPN3 825 broad.mit.edu 37 15 42691775 42691775 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:42691775C>T uc001zpn.1 + 10 1585 c.1279C>T c.(1279-1281)CAG>TAG p.Q427* CAPN3_uc001zpk.1_Nonsense_Mutation_p.Q200*|CAPN3_uc001zpl.1_Nonsense_Mutation_p.Q340*|CAPN3_uc010udf.1_Nonsense_Mutation_p.Q340*|CAPN3_uc010udg.1_Nonsense_Mutation_p.Q292*|CAPN3_uc001zpo.1_Nonsense_Mutation_p.Q427*|CAPN3_uc001zpp.1_Nonsense_Mutation_p.Q379*|CAPN3_uc001zpq.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 427 Domain III. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) TGACAAGCTTCAGACCTGGAC 0.562 NaN 0 0 0 0.001168 0 6 27 LEO1 123169 broad.mit.edu 37 15 52258074 52258074 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:52258074G>A uc002abo.2 - 2 702 c.686C>T c.(685-687)TCT>TTT p.S229F LEO1_uc010bfd.2_Missense_Mutation_p.S229F NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, 229 Asp-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding 0 all cancers(107;0.00264) TTCATCATCAGAATTCTGTTT 0.423 NaN 0 0 0 0.00361 0 56 131 RNF111 54778 broad.mit.edu 37 15 59358969 59358969 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:59358969C>G uc002afv.2 + 6 1652 c.1373C>G c.(1372-1374)TCA>TGA p.S458* RNF111_uc002afs.2_Nonsense_Mutation_p.S458*|RNF111_uc002aft.2_Nonsense_Mutation_p.S458*|RNF111_uc002afu.2_Nonsense_Mutation_p.S458*|RNF111_uc002afw.2_Nonsense_Mutation_p.S458*|RNF111_uc002afx.2_5'UTR NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 458 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) CAAGATGACTCAAGGAGAACT 0.398 NaN 0 0 0 0.007291 0 23 38 PDCD7 10081 broad.mit.edu 37 15 65426045 65426045 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:65426045G>T uc002aol.2 - 1 130 c.75C>A c.(73-75)TTC>TTA p.F25L NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN programmed cell death 7 25 Pro-rich. apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex 0 GCGGACAGCCGAAAGGAGCAG 0.726 NaN 1 0 0.000602214 0.000602 0.000616972 4 6 C15orf27 123591 broad.mit.edu 37 15 76463343 76463343 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:76463343G>A uc002bbq.2 + 7 678 c.523G>A c.(523-525)GGG>AGG p.G175R C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 175 Helical; (Potential). integral to membrane 0 GGTGTTTGACGGGGCTGTGAT 0.617 NaN 0 0 0 0.004656 0 20 19 IREB2 3658 broad.mit.edu 37 15 78790409 78790409 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:78790409C>T uc002bdr.2 + 22 2978 c.2816C>T c.(2815-2817)TCG>TTG p.S939L IREB2_uc010unb.1_Missense_Mutation_p.S689L NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 939 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GTGATTGCTTCGTTTGAAGAT 0.358 NaN 0 0 0 0.00499 0 15 87 PDE8A 5151 broad.mit.edu 37 15 85619974 85619974 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:85619974G>C uc002blh.2 + 5 691 c.502G>C c.(502-504)GAA>CAA p.E168Q PDE8A_uc002bli.2_Missense_Mutation_p.E168Q|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 168 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GGTGGATAGAGAAGAGTTGTC 0.289 NaN 0 0 0 0.010729 0 9 103 MFGE8 4240 broad.mit.edu 37 15 89449884 89449884 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:89449884G>A uc002bng.3 - 4 626 c.513C>T c.(511-513)TTC>TTT p.F171F MFGE8_uc002bnf.3_Silent_p.F59F|MFGE8_uc002bnh.3_Silent_p.F171F|MFGE8_uc010bnn.2_Silent_p.F163F|MFGE8_uc010upq.1_Silent_p.F127F|MFGE8_uc010upr.1_Silent_p.F171F|MFGE8_uc010bno.2_Silent_p.F127F NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 171 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) CATCATGGATGAAATCGAATT 0.512 NaN 0 0 0 0.005443 0 23 94 FES 2242 broad.mit.edu 37 15 91433455 91433455 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:91433455G>A uc002bpv.2 + 9 1279 c.1183G>A c.(1183-1185)GAG>AAG p.E395K FES_uc010uqj.1_Missense_Mutation_p.E337K|FES_uc010uqk.1_Missense_Mutation_p.E377K|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.E337K|FES_uc002bpx.2_Missense_Mutation_p.E395K|FES_uc002bpy.2_Missense_Mutation_p.E337K NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 395 axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGGCCCCGGCGAGCCCCCGCC 0.716 NaN 0 0 0 0.003163 0 13 79 CHD2 1106 broad.mit.edu 37 15 93486105 93486105 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:93486105G>C uc002bsp.2 + 9 1434 c.859G>C c.(859-861)GAA>CAA p.E287Q CHD2_uc002bsm.1_Missense_Mutation_p.E287Q|CHD2_uc002bsn.2_Missense_Mutation_p.E287Q|CHD2_uc002bso.1_Missense_Mutation_p.E287Q|CHD2_uc010urb.1_Missense_Mutation_p.E300Q|CHD2_uc010bof.1_RNA NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 287 Chromo 1. 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) ATATGCGATTGAAGCTAATGG 0.418 NaN 0 0 0 0.010729 0 8 58 CHD2 1106 broad.mit.edu 37 15 93522446 93522446 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:93522446C>T uc002bsp.2 + 22 3384 c.2809C>T c.(2809-2811)CAT>TAT p.H937Y CHD2_uc002bso.1_Missense_Mutation_p.H937Y|CHD2_uc010bog.1_3'UTR|CHD2_uc010boh.1_Missense_Mutation_p.H131Y NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 937 Helicase C-terminal. 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) GGTATTAGATCATCTGGTGAT 0.473 NaN 0 0 0 0.00361 0 59 219 CHD2 1106 broad.mit.edu 37 15 93527686 93527686 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:93527686G>C uc002bsp.2 + 25 3768 c.3193G>C c.(3193-3195)GAA>CAA p.E1065Q CHD2_uc002bso.1_Missense_Mutation_p.E1065Q NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1065 Glu-rich. 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) GAAGGAGCTAGAAGAAATTTA 0.408 NaN 0 0 0 0.001984 0 6 24 MCTP2 55784 broad.mit.edu 37 15 94986184 94986184 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:94986184G>C uc002btj.2 + 18 2310 c.2245G>C c.(2245-2247)GAC>CAC p.D749H MCTP2_uc010boj.2_Missense_Mutation_p.D478H|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.D337H NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 749 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GGATGAAGATGACAAGGTGCG 0.383 NaN 0 0 0 0.00308 0 8 64 LRRC28 123355 broad.mit.edu 37 15 99892583 99892583 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:99892583G>A uc002bva.1 + 7 757 c.602G>A c.(601-603)CGA>CAA p.R201Q LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.R47Q|LRRC28_uc010urt.1_Missense_Mutation_p.R15Q|LRRC28_uc002bvc.1_Missense_Mutation_p.R201Q|LRRC28_uc010uru.1_Missense_Mutation_p.R132Q|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 201 LRR 8. 0 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) GATTTAGGTCGATCTCGAGAA 0.348 NaN 0 0 0 0.003163 0 12 106 LRRK1 79705 broad.mit.edu 37 15 101566280 101566280 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr15:101566280C>G uc002bwr.2 + 17 2662 c.2343C>G c.(2341-2343)CTC>CTG p.L781L LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 781 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGCTGGCACTCTGCCGCTCCC 0.597 NaN 0 0 0 0.009535 0 25 129 RAB40C 57799 broad.mit.edu 37 16 676021 676021 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:676021C>T uc002chr.2 + 5 581 c.465C>T c.(463-465)GTC>GTT p.V155V RAB40C_uc002chq.2_Silent_p.V136V NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 155 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) TCTTTGAGGTCAGCCCCCTGT 0.607 NaN 0 0 0 0.00333 0 21 142 PTX4 390667 broad.mit.edu 37 16 1536456 1536456 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:1536456G>A uc010uvf.1 - 3 906 c.906C>T c.(904-906)TCC>TCT p.S302S NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 307 Pentaxin. extracellular region metal ion binding 0 CCAGGCGGCCGGAGGCCGTGC 0.647 NaN 0 0 0 0.008871 0 17 62 IFT140 9742 broad.mit.edu 37 16 1575300 1575300 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:1575300G>A uc002cmb.2 - 22 3158 c.2796C>T c.(2794-2796)TTC>TTT p.F932F IFT140_uc002clz.2_Silent_p.F545F NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 932 TPR 3. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TGGGCACCTCGAAGCGGTGCG 0.627 NaN 0 0 0 0.00333 0 18 135 AMDHD2 51005 broad.mit.edu 37 16 2578543 2578543 + Missense_Mutation SNP T T C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2578543T>C uc002cqq.2 + 8 1050 c.953T>C c.(952-954)CTG>CCG p.L318P AMDHD2_uc002cqp.2_Missense_Mutation_p.L318P|AMDHD2_uc010uwc.1_Missense_Mutation_p.L318P|AMDHD2_uc010uwd.1_Missense_Mutation_p.L82P NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 318 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 GTGGACGGTCTGACGGCCTAC 0.701 NaN 0 0 0 0.000602 0 5 65 SRRM2 23524 broad.mit.edu 37 16 2811715 2811715 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2811715G>A uc002crk.2 + 11 1735 c.1186G>A c.(1186-1188)GAG>AAG p.E396K SRRM2_uc002crj.1_Missense_Mutation_p.E300K|SRRM2_uc002crl.1_Missense_Mutation_p.E396K|SRRM2_uc010bsu.1_Missense_Mutation_p.E300K NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 396 Pro-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCCCCCATCTGAGGCCTCTCC 0.607 NaN 0 0 0 0.00632 0 21 142 SRRM2 23524 broad.mit.edu 37 16 2812166 2812166 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2812166G>C uc002crk.2 + 11 2186 c.1637G>C c.(1636-1638)AGA>ACA p.R546T SRRM2_uc002crj.1_Missense_Mutation_p.R450T|SRRM2_uc002crl.1_Missense_Mutation_p.R546T|SRRM2_uc010bsu.1_Missense_Mutation_p.R450T NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 546 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCTAGGAGCAGAAATACCCAG 0.597 NaN 0 0 0 0.001168 0 4 31 SRRM2 23524 broad.mit.edu 37 16 2812176 2812176 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2812176G>A uc002crk.2 + 11 2196 c.1647G>A c.(1645-1647)CAG>CAA p.Q549Q SRRM2_uc002crj.1_Silent_p.Q453Q|SRRM2_uc002crl.1_Silent_p.Q549Q|SRRM2_uc010bsu.1_Silent_p.Q453Q NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 549 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GAAATACCCAGAGAAGAGGCA 0.612 NaN 0 0 0 0.001984 0 5 31 SRRM2 23524 broad.mit.edu 37 16 2812362 2812362 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2812362G>C uc002crk.2 + 11 2382 c.1833G>C c.(1831-1833)CGG>CGC p.R611R SRRM2_uc002crj.1_Silent_p.R515R|SRRM2_uc002crl.1_Silent_p.R611R|SRRM2_uc010bsu.1_Silent_p.R515R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 611 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CACCAGCCCGGAGGGGCAGGT 0.622 NaN 0 0 0 0.001168 0 6 85 SRRM2 23524 broad.mit.edu 37 16 2814751 2814751 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2814751G>C uc002crk.2 + 11 4771 c.4222G>C c.(4222-4224)GAT>CAT p.D1408H SRRM2_uc002crj.1_Missense_Mutation_p.D1312H|SRRM2_uc002crl.1_Missense_Mutation_p.D1408H|SRRM2_uc010bsu.1_Missense_Mutation_p.D1312H NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1408 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 ACCTGTGCTTGATGCTGTACC 0.473 NaN 0 0 0 0.010771 0 39 226 PRSS33 260429 broad.mit.edu 37 16 2835105 2835105 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:2835105G>A uc002cro.1 - 5 742 c.582C>T c.(580-582)GAC>GAT p.D194D PRSS33_uc002crp.1_Missense_Mutation_p.R104W|PRSS33_uc010uwh.1_Silent_p.D194D NM_152891 NP_690851 Q8NF86 PRS33_HUMAN protease, serine, 33 precursor 194 Peptidase S1. proteolysis serine-type endopeptidase activity 0 GGTAGAGGCCGTCGCAGGTGC 0.687 NaN 0 0 0 0.009096 0 3 11 ZNF213 7760 broad.mit.edu 37 16 3191255 3191255 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:3191255C>T uc010uws.1 + 6 1734 c.1287C>T c.(1285-1287)TTC>TTT p.F429F ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.F429F|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 429 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCGGCCCTTCGGCTGCGGAG 0.672 NaN 0 0 0 0.001855 0 11 99 ZNF200 7752 broad.mit.edu 37 16 3274032 3274032 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:3274032C>T uc002cuj.2 - 5 1680 c.1048G>A c.(1048-1050)GAG>AAG p.E350K ZNF200_uc002cum.3_Missense_Mutation_p.E349K|ZNF200_uc010bti.2_Missense_Mutation_p.E349K|ZNF200_uc002cuk.2_Missense_Mutation_p.E350K|ZNF200_uc002cui.2_Missense_Mutation_p.E349K|ZNF200_uc002cul.3_Missense_Mutation_p.E349K NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 350 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AGCACAAACTCCTCATTCTTT 0.448 NaN 0 0 0 0.004007 0 14 153 TFAP4 7023 broad.mit.edu 37 16 4310139 4310139 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:4310139G>A uc010uxg.1 - 6 1028 c.774C>T c.(772-774)GTC>GTT p.V258V NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 258 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CAGAGTTGATGACCGAGGAGG 0.622 NaN 0 0 0 0.005443 0 24 172 PPL 5493 broad.mit.edu 37 16 4934113 4934113 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:4934113C>G uc002cyd.1 - 22 4633 c.4543G>C c.(4543-4545)GAG>CAG p.E1515Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1515 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CTCTGGATCTCTTGCTCGGTG 0.637 NaN 0 0 0 0.004482 0 8 48 PPL 5493 broad.mit.edu 37 16 4934819 4934819 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:4934819C>T uc002cyd.1 - 22 3927 c.3837G>A c.(3835-3837)CTG>CTA p.L1279L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1279 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TGGTGTCTTTCAGGGCCTGGA 0.532 NaN 0 0 0 0.003271 0 27 132 PPL 5493 broad.mit.edu 37 16 4934921 4934921 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:4934921C>T uc002cyd.1 - 22 3825 c.3735G>A c.(3733-3735)GAG>GAA p.E1245E NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1245 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GAAGCTCCTTCTCCATCTCAG 0.532 NaN 0 0 0 0.008291 0 10 70 PPL 5493 broad.mit.edu 37 16 4935359 4935359 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:4935359C>T uc002cyd.1 - 22 3387 c.3297G>A c.(3295-3297)AAG>AAA p.K1099K NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1099 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 TCTCTAGCCTCTTGAGCTTGT 0.632 NaN 0 0 0 0.008871 0 17 114 PPL 5493 broad.mit.edu 37 16 4939015 4939015 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:4939015G>C uc002cyd.1 - 19 2451 c.2361C>G c.(2359-2361)ATC>ATG p.I787M NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 787 Spectrin 4.|Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 AATTGGCACAGATCTTCTGTA 0.448 NaN 0 0 0 0.00361 0 55 485 FAM86A 196483 broad.mit.edu 37 16 5145479 5145479 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:5145479C>T uc002cyo.2 - 2 182 c.133G>A c.(133-135)GAG>AAG p.E45K FAM86A_uc002cyp.2_Missense_Mutation_p.E45K NM_201400 NP_958802 Q96G04 FA86A_HUMAN hypothetical protein LOC196483 isoform 1 45 0 CGCAGCAGCTCAGAATCTGAT 0.478 NaN 0 0 0 0.006122 0 14 79 ATF7IP2 80063 broad.mit.edu 37 16 10576009 10576009 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:10576009G>A uc002czu.2 + 12 2179 c.1952G>A c.(1951-1953)AGA>AAA p.R651K ATF7IP2_uc002czv.2_3'UTR|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Missense_Mutation_p.R195K|ATF7IP2_uc002czw.2_Missense_Mutation_p.R651K|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 651 Fibronectin type-III. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GCTTCCAACAGATACTATTTT 0.338 NaN 0 0 0 0.004482 0 7 47 RUNDC2A 84127 broad.mit.edu 37 16 12145758 12145758 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:12145758C>T uc002dbw.1 + 8 865 c.803C>T c.(802-804)TCA>TTA p.S268L SNX29_uc002dby.3_5'Flank NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 268 ovary(1) 1 AACATAATCTCATTTGATGAT 0.433 NaN T CIITA PMBL|Hodgkin Lymphona| 0 0 0 0.010729 0 8 45 DNAH3 55567 broad.mit.edu 37 16 20999081 20999081 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:20999081G>C uc010vbe.1 - 46 6816 c.6816C>G c.(6814-6816)GTC>GTG p.V2272V DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2272 AAA 3 (By similarity). 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) GCAGGTTAAAGACGTAATGTG 0.483 NaN 0 0 0 0.00245 0 13 78 AQP8 343 broad.mit.edu 37 16 25232864 25232864 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:25232864C>G uc002doc.2 + 3 429 c.347C>G c.(346-348)TCA>TGA p.S116* NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 116 Helical; (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) TACTGGGTCTCACAGCTGCTC 0.627 NaN 0 0 0 0.003755 0 26 214 SRCAP 10847 broad.mit.edu 37 16 30715622 30715622 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS RNASeq Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:30715622G>A uc002dze.1 + 4 677 c.292G>A c.(292-294)GAA>AAA p.E98K SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 98 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CGAAATTGCAGAACAGGCCAA 0.493 NaN 0 0 0 0.006999 0 31 178 STX4 6810 broad.mit.edu 37 16 31049270 31049270 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:31049270C>T uc002eal.2 + 6 626 c.402C>T c.(400-402)TTC>TTT p.F134F STX4_uc002eak.2_Silent_p.F132F|STX4_uc002eam.2_Silent_p.F56F NM_004604 NP_004595 Q12846 STX4_HUMAN syntaxin 4 134 Cytoplasmic (Potential).|Potential. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity 0 CCCAGCAATTCGTGGAGCTCA 0.547 NaN 0 0 0 0.010729 0 10 106 ITGAM 3684 broad.mit.edu 37 16 31309204 31309204 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:31309204G>A uc002ebq.2 + 14 1734 c.1636G>A c.(1636-1638)GAG>AAG p.E546K ITGAM_uc002ebr.2_Missense_Mutation_p.E547K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 546 FG-GAP 6.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CCCAGGAGAGGAGGACAACCG 0.617 NaN 0 0 0 0.008871 0 19 158 ARMC5 79798 broad.mit.edu 37 16 31473868 31473868 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:31473868C>T uc002ecc.2 + 3 1529 c.1000C>T c.(1000-1002)CGC>TGC p.R334C ARMC5_uc010vfn.1_Missense_Mutation_p.R429C|ARMC5_uc010vfo.1_Missense_Mutation_p.R366C|ARMC5_uc002eca.3_Missense_Mutation_p.R334C|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R334C NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 334 ARM 5. binding pancreas(1) 1 GCTCCGGCAGCGCCGGGATCC 0.647 NaN 0 0 0 0.008871 0 16 121 SLC5A2 6524 broad.mit.edu 37 16 31499002 31499002 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:31499002C>T uc002ecf.3 + 7 826 c.807C>T c.(805-807)CCC>CCT p.P269P SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 269 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 TCCGGCACCCCGTGACCGGGG 0.667 NaN 0 0 0 0.010504 0 17 80 ABCC12 94160 broad.mit.edu 37 16 48177916 48177916 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:48177916G>A uc002efc.1 - 2 526 c.180C>T c.(178-180)CTC>CTT p.L60L ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.L60L|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 60 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TCACCGGCGTGAGCCAGGAAA 0.567 NaN 0 0 0 0.00245 0 12 101 NOD2 64127 broad.mit.edu 37 16 50745519 50745519 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:50745519C>G uc002egm.1 + 4 1802 c.1697C>G c.(1696-1698)TCA>TGA p.S566* NOD2_uc010cbk.1_Nonsense_Mutation_p.S539*|NOD2_uc002egl.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbl.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbm.1_Nonsense_Mutation_p.S344*|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 566 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TACGTGTTCTCAGCCCAGCAG 0.647 NaN 0 0 0 0.00308 0 6 52 IRX5 10265 broad.mit.edu 37 16 54967531 54967531 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:54967531C>T uc002ehv.2 + 3 1198 c.1198C>T c.(1198-1200)CGG>TGG p.R400W IRX5_uc002ehw.2_Missense_Mutation_p.R334W NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 400 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 GGTGCTGTCCCGGCCTCTCTA 0.711 NaN 0 0 0 0.006214 0 9 39 GPR56 9289 broad.mit.edu 37 16 57695626 57695626 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:57695626C>G uc002emb.2 + 14 1992 c.1700C>G c.(1699-1701)TCC>TGC p.S567C GPR56_uc002ema.1_Missense_Mutation_p.S392C|GPR56_uc002emc.2_Missense_Mutation_p.S561C|GPR56_uc002emf.2_Missense_Mutation_p.S561C|GPR56_uc010vhs.1_Missense_Mutation_p.S567C|GPR56_uc002emd.2_Missense_Mutation_p.S561C|GPR56_uc002eme.2_Missense_Mutation_p.S561C|GPR56_uc010vht.1_Missense_Mutation_p.S566C|GPR56_uc002emg.3_Missense_Mutation_p.S561C|GPR56_uc010vhu.1_Missense_Mutation_p.S386C NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 567 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 ATCCGGGACTCCCTGGTCAGC 0.552 NaN 0 0 0 0.001168 0 6 32 CDH11 1009 broad.mit.edu 37 16 64981694 64981694 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:64981694G>A uc002eoi.2 - 13 2637 c.2203C>T c.(2203-2205)CCT>TCT p.P735S CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.P609S NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 735 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCATAAGGAGGAGCCGTGGGG 0.567 NaN T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 0 0 0 0.00245 0 14 41 CDH11 1009 broad.mit.edu 37 16 65016069 65016069 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:65016069C>T uc002eoi.2 - 8 1569 c.1135G>A c.(1135-1137)GAG>AAG p.E379K CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E379K|CDH11_uc010vin.1_Missense_Mutation_p.E253K|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 379 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ATAGGGGGCTCATCAGCATCT 0.527 NaN T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 0 0 0 0.001984 0 5 77 CDH16 1014 broad.mit.edu 37 16 66949265 66949265 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:66949265G>T uc002eql.2 - 6 514 c.441C>A c.(439-441)TTC>TTA p.F147L CDH16_uc010cdy.2_Missense_Mutation_p.F147L|CDH16_uc002eqm.2_Intron NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 147 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AAGCCTCAAGGAAGAGGAAGG 0.582 NaN 1 0 4.72057e-08 0.003954 4.96177e-08 18 75 B3GNT9 84752 broad.mit.edu 37 16 67183434 67183434 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:67183434G>C uc002erf.2 - 2 1276 c.955C>G c.(955-957)CTG>GTG p.L319V uc002erg.1_5'UTR NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 319 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 CACATGCCCAGAAAGACGTCG 0.687 NaN 0 0 0 0.00308 0 5 12 B3GNT9 84752 broad.mit.edu 37 16 67183755 67183755 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:67183755G>C uc002erf.2 - 2 955 c.634C>G c.(634-636)CTA>GTA p.L212V uc002erg.1_Missense_Mutation_p.R53T NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 212 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 GCCCAGGCTAGAAAGTGGATC 0.592 NaN 0 0 0 0.009096 0 4 15 ELMO3 79767 broad.mit.edu 37 16 67233112 67233112 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:67233112G>A uc002esa.2 + 1 85 c.42G>A c.(40-42)CCG>CCA p.P14P ELMO3_uc002esb.2_Silent_p.P14P|ELMO3_uc002esc.2_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 Error:Variant_position_missing_in_Q96BJ8_after_alignment apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCGGGACACCGAGGTCAGGTC 0.687 NaN 0 0 0 0.001168 0 4 16 SLC12A4 6560 broad.mit.edu 37 16 67985768 67985768 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:67985768C>T uc002euz.2 - 8 1231 c.1090G>A c.(1090-1092)GAG>AAG p.E364K SLC12A4_uc010ceu.2_Missense_Mutation_p.E358K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E333K|SLC12A4_uc010vki.1_Missense_Mutation_p.E364K|SLC12A4_uc010vkj.1_Missense_Mutation_p.E366K|SLC12A4_uc002eva.2_Missense_Mutation_p.E364K|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 364 Helical; (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCAGGGATCTCGGTCACATTG 0.607 NaN 0 0 0 0.001168 0 6 32 COG4 25839 broad.mit.edu 37 16 70517820 70517820 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:70517820G>A uc002ezc.2 - 14 1774 c.1763C>T c.(1762-1764)GCC>GTC p.A588V COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.A44V|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.A567V|COG4_uc002eze.2_Missense_Mutation_p.A282V NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 584 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) GTCAAACTTGGCCTGGGCCTG 0.582 NaN 0 0 0 0.002299 0 21 120 COG4 25839 broad.mit.edu 37 16 70551628 70551628 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:70551628C>T uc002ezc.2 - 3 281 c.270G>A c.(268-270)CTG>CTA p.L90L COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L90L|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 86 Interacts with STX5. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) CTCCCTCAATCAGCTGCAGAT 0.453 NaN 0 0 0 0.003954 0 20 112 HYDIN 54768 broad.mit.edu 37 16 71220736 71220736 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:71220736G>C uc002ezr.2 - 2 191 c.63C>G c.(61-63)TTC>TTG p.F21L HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Missense_Mutation_p.F21L|HYDIN_uc010vmc.1_Missense_Mutation_p.F38L|HYDIN_uc010vmd.1_Missense_Mutation_p.F48L|HYDIN_uc002ezw.3_Missense_Mutation_p.F38L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 21 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GAAATCCTTTGAACATATTGA 0.383 NaN 0 0 0 0.000602 0 4 33 CHST4 10164 broad.mit.edu 37 16 71571634 71571634 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:71571634G>A uc002fan.2 + 2 1235 c.1054G>A c.(1054-1056)GAT>AAT p.D352N CHST4_uc002fao.2_Missense_Mutation_p.D352N NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 352 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 AGCCTGTGGCGATGCCATGAA 0.512 NaN OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 47 KARS 3735 broad.mit.edu 37 16 75681495 75681495 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:75681495C>T uc002feq.2 - 1 91 c.43G>A c.(43-45)GAG>AAG p.E15K KARS_uc002fer.2_5'UTR|KARS_uc002fes.2_5'UTR|KARS_uc010cha.1_Intron|TERF2IP_uc002fet.1_5'Flank NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 15 Missing: Loss of nuclear localization, but no effect on packaging into HIV-1. interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) AGTTTCGGCTCGCTGCCATCC 0.587 NaN 0 0 0 0.004482 0 7 38 ADAMTS18 170692 broad.mit.edu 37 16 77393224 77393224 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:77393224G>A uc002ffc.3 - 8 1732 c.1313C>T c.(1312-1314)TCA>TTA p.S438L ADAMTS18_uc010chc.1_Missense_Mutation_p.S26L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S134L|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 438 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CTTGTGCCCTGACTCATGAGC 0.463 NaN 0 0 0 0.000602 0 4 22 ZC3H18 124245 broad.mit.edu 37 16 88690429 88690429 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:88690429C>T uc002fky.2 + 11 2057 c.1857C>T c.(1855-1857)ATC>ATT p.I619I ZC3H18_uc010voz.1_Silent_p.I643I|ZC3H18_uc010chw.2_RNA NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 619 Ser-rich. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GACCTTCCATCAGAACCAAGG 0.672 NaN 0 0 0 0.009535 0 23 155 TUBB3 10381 broad.mit.edu 37 16 90002120 90002120 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr16:90002120G>A uc002fph.1 + 4 1326 c.1261G>A c.(1261-1263)GAG>AAG p.E421K TUBB3_uc002fpf.2_Missense_Mutation_p.E768K|TUBB3_uc010ciz.1_Missense_Mutation_p.E349K|TUBB3_uc002fpg.1_Missense_Mutation_p.E275K|TUBB3_uc002fpi.1_Missense_Mutation_p.E349K|TUBB3_uc002fpj.1_Missense_Mutation_p.E349K|TUBB3_uc010cjb.1_Missense_Mutation_p.E275K|TUBB3_uc002fpk.1_Missense_Mutation_p.E275K NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 421 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCTGGTGTCCGAGTACCAGCA 0.632 NaN 0 0 0 0.003954 0 19 106 OR1E2 8388 broad.mit.edu 37 17 3337109 3337109 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:3337109G>A uc010vre.1 - 1 27 c.27C>T c.(25-27)ATC>ATT p.I9I NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 9 Extracellular (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 GGAAGTCTGAGATGCTGGTTT 0.458 NaN 0 0 0 0.002299 0 9 59 P2RX5 5026 broad.mit.edu 37 17 3593966 3593966 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:3593966G>A uc002fwi.2 - 4 653 c.369C>T c.(367-369)GGC>GGT p.G123G P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Silent_p.G123G|P2RX5_uc010vrx.1_Silent_p.G63G|P2RX5_uc002fwj.2_Silent_p.G99G|P2RX5_uc002fwk.2_Silent_p.G123G|P2RX5_uc002fwl.2_Silent_p.G99G|P2RX5_uc002fwm.1_Silent_p.G123G NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 123 Extracellular (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CATCAGGAATGCCTTCATTCT 0.632 NaN 0 0 0 0.003163 0 12 74 ZZEF1 23140 broad.mit.edu 37 17 3936223 3936223 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:3936223C>T uc002fxe.2 - 41 6722 c.6658G>A c.(6658-6660)GAT>AAT p.D2220N ZZEF1_uc002fxh.2_Missense_Mutation_p.D534N|ZZEF1_uc002fxi.2_Missense_Mutation_p.D455N NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2220 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCAATGACATCACGCCACAGT 0.597 NaN 0 0 0 0.00308 0 8 35 TEKT1 83659 broad.mit.edu 37 17 6719158 6719158 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:6719158C>T uc002gdt.2 - 4 590 c.480G>A c.(478-480)CAG>CAA p.Q160Q TEKT1_uc010vth.1_Silent_p.Q14Q NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 160 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) CATACCGAATCTGCTCGGAAG 0.532 NaN 0 0 0 0.000602 0 4 52 TMEM88 92162 broad.mit.edu 37 17 7758849 7758849 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:7758849C>T uc002giy.2 + 2 306 c.297C>T c.(295-297)CTC>CTT p.L99L CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank NM_203411 NP_981956 Q6PEY1 TMM88_HUMAN transmembrane protein 88 99 Helical; (Potential). integral to membrane 0 all_cancers(10;0.00528)|Prostate(122;0.202) TCCTGCTCCTCGTGCCGCTGC 0.682 NaN 0 0 0 0.00632 0 25 136 GUCY2D 3000 broad.mit.edu 37 17 7910802 7910802 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:7910802G>T uc002gjt.2 + 6 1596 c.1522G>T c.(1522-1524)GAC>TAC p.D508Y NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 508 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CCTGACCGTGGACGACATCAC 0.562 NaN 1 0 1.19451e-25 0.00361 1.29115e-25 38 189 MYH2 4620 broad.mit.edu 37 17 10441042 10441042 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:10441042G>C uc010coi.2 - 15 1655 c.1527C>G c.(1525-1527)ATC>ATG p.I509M uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.I509M|MYH2_uc010coj.2_Missense_Mutation_p.I509M NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 509 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ACGTCCACTCGATGCCTTCCT 0.493 NaN 0 0 0 0.012319 0 17 199 C17orf48 56985 broad.mit.edu 37 17 10608412 10608412 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:10608412G>A uc002gmt.2 + 2 244 c.169G>A c.(169-171)GAA>AAA p.E57K C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.E57K NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 57 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 GGGTGCCATTGAAGACTGGAA 0.428 NaN 0 0 0 0.001368 0 13 75 PMP22 5376 broad.mit.edu 37 17 15162452 15162452 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:15162452G>A uc002goj.2 - 2 186 c.137C>T c.(136-138)TCC>TTC p.S46F PMP22_uc002gok.2_Missense_Mutation_p.S46F|PMP22_uc002gol.2_Missense_Mutation_p.S46F NM_153322 NP_696997 Q01453 PMP22_HUMAN peripheral myelin protein 22 46 peripheral nervous system development|synaptic transmission integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) ATTTCCTGAGGAAGAGGTGCT 0.463 NaN 0 0 0 0.001368 0 8 75 TTC19 54902 broad.mit.edu 37 17 15902870 15902870 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:15902870C>G uc002gph.1 + 1 89 c.71C>G c.(70-72)TCA>TGA p.S24* ZSWIM7_uc002gpe.2_Silent_p.L13L|ZSWIM7_uc002gpf.2_Silent_p.L13L|ZSWIM7_uc002gpg.2_RNA|TTC19_uc010cox.1_RNA NM_017775 NP_060245 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 Error:Variant_position_missing_in_Q6DKK2_after_alignment cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCATCTCGCTCAGGAGCTCCT 0.746 NaN 0 0 0 0.001984 0 4 21 NCOR1 9611 broad.mit.edu 37 17 16049769 16049769 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:16049769C>G uc002gpo.2 - 10 1243 c.1003G>C c.(1003-1005)GAA>CAA p.E335Q NCOR1_uc002gpn.2_Missense_Mutation_p.E335Q|NCOR1_uc002gpp.1_Missense_Mutation_p.E226Q|NCOR1_uc002gpr.2_Missense_Mutation_p.E226Q|NCOR1_uc002gps.1_Missense_Mutation_p.E344Q|NCOR1_uc010coz.1_Missense_Mutation_p.E151Q|NCOR1_uc010cpb.1_Missense_Mutation_p.E344Q|NCOR1_uc010cpa.1_Missense_Mutation_p.E335Q NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 335 Interaction with ZBTB33 and HEXIM1. 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) GTTTTGCTTTCTTTAGCTTTC 0.368 NaN 0 0 0 0.008291 0 8 48 RAI1 10743 broad.mit.edu 37 17 17700429 17700429 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:17700429G>A uc002grm.2 + 3 4636 c.4167G>A c.(4165-4167)CAG>CAA p.Q1389Q RAI1_uc002grn.1_Silent_p.Q1389Q NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1389 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GCACCGGGCAGAAGCTCCCAA 0.537 NaN 0 0 0 0.004007 0 13 79 FAM83G 644815 broad.mit.edu 37 17 18881778 18881778 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:18881778G>A uc002guw.2 - 5 1368 c.1201C>T c.(1201-1203)CAC>TAC p.H401Y SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 401 ovary(1)|central_nervous_system(1) 2 CTCTCCAGGTGAAGCAGTCCT 0.637 NaN 0 0 0 0.004672 0 3 13 RNF112 7732 broad.mit.edu 37 17 19316427 19316427 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:19316427C>T uc010vyw.1 + 4 757 c.558C>T c.(556-558)CTC>CTT p.L186L RNF112_uc010vyu.1_Silent_p.L186L|RNF112_uc010vyv.1_Silent_p.L186L|RNF112_uc010vyx.1_Intron NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 186 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 CCTTCCTCCTCAACCATTTGC 0.682 NaN 0 0 0 0.004482 0 5 84 SARM1 23098 broad.mit.edu 37 17 26687798 26687798 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:26687798C>G uc010wah.1 + 5 466 c.459C>G c.(457-459)TTC>TTG p.F153L TMEM199_uc002hba.2_Missense_Mutation_p.F153L NM_152464 NP_689677 Q6SZW1 SARM1_HUMAN transmembrane protein 199 Error:Variant_position_missing_in_Q6SZW1_after_alignment innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TCTTCAATTTCATTGTCACGG 0.502 NaN 0 0 0 0.010504 0 14 108 KIAA0100 9703 broad.mit.edu 37 17 26964034 26964034 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:26964034G>A uc002hbu.2 - 15 2025 c.1926C>T c.(1924-1926)CTC>CTT p.L642L NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 642 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TGGAAAGGCTGAGCACTGGGG 0.547 NaN 0 0 0 0.002836 0 25 155 ERAL1 26284 broad.mit.edu 37 17 27186107 27186107 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:27186107G>A uc002hcy.1 + 8 1096 c.1086G>A c.(1084-1086)CAG>CAA p.Q362Q ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.Q169Q|ERAL1_uc002hdb.1_Silent_p.Q245Q NM_005702 NP_005693 O75616 ERAL1_HUMAN Era-like 1 362 KH type-2. ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding skin(1) 1 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) ACCTGCCCCAGGAGGTGCCTT 0.527 NaN 0 0 0 0.004007 0 13 110 MYO18A 399687 broad.mit.edu 37 17 27419972 27419972 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:27419972C>T uc002hdt.1 - 33 5132 c.4974G>A c.(4972-4974)CTG>CTA p.L1658L MYO18A_uc010wbc.1_Silent_p.L1191L|MYO18A_uc002hds.2_Silent_p.L1200L|MYO18A_uc010csa.1_Silent_p.L1621L|MYO18A_uc002hdu.1_Silent_p.L1658L NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1658 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGGTGCGCTTCAGGTCCTTCC 0.617 NaN 0 0 0 0.001368 0 13 68 CORO6 84940 broad.mit.edu 37 17 27943163 27943163 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:27943163C>T uc002hel.2 - 9 1095 c.1093G>A c.(1093-1095)GAT>AAT p.D365N CORO6_uc002hem.2_Missense_Mutation_p.D131N|CORO6_uc002hen.2_Missense_Mutation_p.D131N NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 365 actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CCTGGCGTATCCGGGTACAGA 0.672 NaN 0 0 0 0.003163 0 14 96 BLMH 642 broad.mit.edu 37 17 28593921 28593921 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:28593921C>T uc002hez.1 - 11 1435 c.1198G>A c.(1198-1200)GAA>AAA p.E400K BLMH_uc010wbn.1_Missense_Mutation_p.E313K NM_000386 NP_000377 Q13867 BLMH_HUMAN bleomycin hydrolase 400 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding ovary(1) 1 CCATGGTCTTCACCCCATGAA 0.493 NaN 0 0 0 0.000602 0 4 70 TBC1D29 26083 broad.mit.edu 37 17 28890294 28890294 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:28890294G>A uc002hfh.2 + 5 453 c.304G>A c.(304-306)GAG>AAG p.E102K TBC1D29_uc002hfi.2_RNA NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 102 intracellular Rab GTPase activator activity 0 Myeloproliferative disorder(56;0.0255) GACAGCCTCAGAGAGCAGCAG 0.597 NaN 0 0 0 0.001984 0 6 45 NF1 4763 broad.mit.edu 37 17 29490350 29490350 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:29490350C>T uc002hgg.2 + 4 768 c.435C>T c.(433-435)CTC>CTT p.L145L NF1_uc002hge.1_Silent_p.L145L|NF1_uc002hgf.1_Silent_p.L145L|NF1_uc002hgh.2_Silent_p.L145L|NF1_uc010csn.1_Missense_Mutation_p.S41L NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 145 L -> P (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(5)|p.?(4) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TATTTTCTCTCAGCTGCAACA 0.418 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.006214 0 7 45 RAB11FIP4 84440 broad.mit.edu 37 17 29849000 29849000 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:29849000C>T uc002hgn.1 + 6 1055 c.826C>T c.(826-828)CAA>TAA p.Q276* RAB11FIP4_uc002hgo.2_Nonsense_Mutation_p.Q174* NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 276 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TTACTGCTCTCAATGCTGCAA 0.527 NaN 0 0 0 0.002299 0 19 141 RHOT1 55288 broad.mit.edu 37 17 30503214 30503214 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:30503214G>A uc002hgz.2 + 6 550 c.311G>A c.(310-312)AGA>AAA p.R104K RHOT1_uc002hgw.2_Missense_Mutation_p.R104K|RHOT1_uc002hgy.2_Missense_Mutation_p.R104K|RHOT1_uc002hha.2_5'UTR|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_5'UTR|RHOT1_uc010wby.1_Missense_Mutation_p.R104K|RHOT1_uc002hhb.2_Missense_Mutation_p.R83K|RHOT1_uc002hgv.2_Missense_Mutation_p.R104K NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 104 Miro 1.|Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) ATAAATGAAAGAACAGACAAA 0.254 NaN 0 0 0 0.009096 0 3 26 ZNF830 91603 broad.mit.edu 37 17 33288630 33288630 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:33288630G>C uc002hih.3 + 1 82 c.45G>C c.(43-45)GTG>GTC p.V15V CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank NM_052857 NP_443089 Q96NB3 ZN830_HUMAN coiled-coil domain containing 16 15 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1) 1 Ovarian(249;0.17) GGAAGCGAGTGATAAATCAGG 0.557 NaN 0 0 0 0.00278 0 21 132 SLFN5 162394 broad.mit.edu 37 17 33586238 33586238 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:33586238G>C uc002hjf.3 + 2 646 c.529G>C c.(529-531)GAT>CAT p.D177H SLFN5_uc002hje.2_Missense_Mutation_p.D177H|SLFN5_uc010wcg.1_Missense_Mutation_p.D177H NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 177 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TGCTTTATTTGATAGAAAGCG 0.398 NaN 0 0 0 0.008291 0 8 74 ACACA 31 broad.mit.edu 37 17 35615184 35615184 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:35615184G>A uc002hnm.2 - 13 1692 c.1501C>T c.(1501-1503)CCA>TCA p.P501S ACACA_uc002hnk.2_Missense_Mutation_p.P423S|ACACA_uc002hnl.2_Missense_Mutation_p.P443S|ACACA_uc002hnn.2_Missense_Mutation_p.P501S|ACACA_uc002hno.2_Missense_Mutation_p.P538S|ACACA_uc010cuz.2_Missense_Mutation_p.P501S NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 501 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGGCCCCTTGGACAAGGAACG 0.408 NaN 0 0 0 0.006214 0 7 55 ACACA 31 broad.mit.edu 37 17 35627678 35627678 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:35627678G>A uc002hnm.2 - 10 1163 c.972C>T c.(970-972)GTC>GTT p.V324V ACACA_uc002hnk.2_Silent_p.V246V|ACACA_uc002hnl.2_Silent_p.V266V|ACACA_uc002hnn.2_Silent_p.V324V|ACACA_uc002hno.2_Silent_p.V361V|ACACA_uc010cuz.2_Silent_p.V324V NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 324 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGCATTGTTGACTTTTCTAA 0.363 NaN 0 0 0 0.007413 0 15 151 STARD3 10948 broad.mit.edu 37 17 37810000 37810000 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:37810000G>C uc002hsd.2 + 2 340 c.216G>C c.(214-216)CTG>CTC p.L72L STARD3_uc010weg.1_Silent_p.L72L|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Silent_p.L72L|STARD3_uc010wei.1_Silent_p.L72L|STARD3_uc002hsf.2_5'UTR NM_006804 NP_006795 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain 72 Helical; (Potential).|MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCATCGAACTGAATGTGAGTG 0.622 NaN OREG0024381 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 12 107 ERBB2 2064 broad.mit.edu 37 17 37884048 37884048 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:37884048C>G uc002hso.2 + 27 3757 c.3519C>G c.(3517-3519)CTC>CTG p.L1173L ERBB2_uc002hsm.2_Silent_p.L1143L|ERBB2_uc010cwa.2_Silent_p.L1158L|ERBB2_uc002hsp.2_Silent_p.L976L|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Silent_p.L897L NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 1173 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CCAAGACTCTCTCCCCAGGGA 0.642 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.008291 0 8 61 ERBB2 2064 broad.mit.edu 37 17 37884180 37884180 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:37884180C>T uc002hso.2 + 27 3889 c.3651C>T c.(3649-3651)TTC>TTT p.F1217F ERBB2_uc002hsm.2_Silent_p.F1187F|ERBB2_uc010cwa.2_Silent_p.F1202F|ERBB2_uc002hsp.2_Silent_p.F1020F|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Silent_p.F941F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 1217 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCCCAGCCTTCGACAACCTCT 0.627 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.00632 0 25 153 IKZF3 22806 broad.mit.edu 37 17 37947692 37947692 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:37947692G>A uc002hsu.2 - 5 631 c.569C>T c.(568-570)ACG>ATG p.T190M IKZF3_uc002htd.2_Missense_Mutation_p.T156M|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.T156M|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.T190M|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.T190M|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.T190M|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.T103M|IKZF3_uc002htc.2_Intron NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 190 C2H2-type 3. B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AAGATGCCCCGTGAGCGCATC 0.463 NaN 0 0 0 0.006122 0 8 141 IKZF3 22806 broad.mit.edu 37 17 37947694 37947694 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:37947694G>A uc002hsu.2 - 5 629 c.567C>T c.(565-567)CTC>CTT p.L189L IKZF3_uc002htd.2_Silent_p.L155L|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.L155L|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.L189L|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Silent_p.L189L|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Silent_p.L189L|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.L102L|IKZF3_uc002htc.2_Intron NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 189 C2H2-type 3. B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GATGCCCCGTGAGCGCATCTC 0.468 NaN 0 0 0 0.008871 0 10 146 CASC3 22794 broad.mit.edu 37 17 38318321 38318321 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:38318321G>A uc010cwt.1 + 5 818 c.523G>A c.(523-525)GAT>AAT p.D175N CASC3_uc010cws.1_Missense_Mutation_p.D175N|CASC3_uc002hue.2_Missense_Mutation_p.D175N NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 175 Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 TGATGATGAAGATCGGAAGAA 0.478 NaN 0 0 0 0.00245 0 13 82 KRT26 353288 broad.mit.edu 37 17 38928361 38928361 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:38928361G>C uc002hvf.2 - 1 51 c.5C>G c.(4-6)TCT>TGT p.S2C NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN keratin 26 2 Head. intermediate filament structural molecule activity 0 Breast(137;0.00526) AAGTCGAAAAGACATGGTGGC 0.547 NaN 0 0 0 0.003163 0 15 92 KRT15 3866 broad.mit.edu 37 17 39671773 39671773 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:39671773C>T uc002hwy.2 - 6 1389 c.1198G>A c.(1198-1200)GAG>AAG p.E400K KRT15_uc002hwz.2_Missense_Mutation_p.E302K|KRT15_uc002hxa.2_Missense_Mutation_p.E235K|KRT15_uc002hxb.1_Missense_Mutation_p.E235K NM_002275 NP_002266 P19012 K1C15_HUMAN keratin 15 400 Rod.|Coil 2. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000286) ATCTCCTGCTCCAGCCGTGTC 0.602 NaN 0 0 0 0.008871 0 15 158 DNAJC7 7266 broad.mit.edu 37 17 40169363 40169363 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:40169363C>T uc002hyo.2 - 1 309 c.72G>A c.(70-72)GCG>GCA p.A24A DNAJC7_uc010wgb.1_5'Flank|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_5'UTR|DNAJC7_uc010cxw.2_5'Flank|NKIRAS2_uc002hyq.2_5'Flank|NKIRAS2_uc010wgd.1_5'Flank|NKIRAS2_uc002hyr.2_5'Flank|NKIRAS2_uc002hys.2_5'Flank|NKIRAS2_uc010wge.1_5'Flank|NKIRAS2_uc002hyt.2_5'Flank NM_003315 NP_003306 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 24 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding ovary(1) 1 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) GTTACCTCTTCGCCTCTTGGT 0.652 NaN 0 0 0 0.00361 0 38 261 NBR1 4077 broad.mit.edu 37 17 41352511 41352511 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:41352511G>T uc010czd.2 + 17 2494 c.2354G>T c.(2353-2355)GGA>GTA p.G785V NBR1_uc010diz.2_Missense_Mutation_p.G785V|NBR1_uc010whu.1_Missense_Mutation_p.G785V|NBR1_uc010whv.1_Missense_Mutation_p.G785V|NBR1_uc010whw.1_Missense_Mutation_p.G764V NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 785 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) AGACTCCCTGGAGGGGAGAAC 0.602 NaN 1 0 1.61879e-10 0.001368 1.71401e-10 12 35 MPP3 4356 broad.mit.edu 37 17 41879098 41879098 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:41879098G>A uc002iei.3 - 20 1895 c.1729C>T c.(1729-1731)CAC>TAC p.H577Y MPP3_uc002ieh.2_Missense_Mutation_p.H602Y|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 577 signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GGTACCCAGTGAGTGTCCTTG 0.363 NaN 0 0 0 0.00278 0 20 162 ADAM11 4185 broad.mit.edu 37 17 42850646 42850646 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:42850646C>G uc002ihh.2 + 11 843 c.843C>G c.(841-843)CTC>CTG p.L281L ADAM11_uc010wjd.1_Silent_p.L81L NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 281 Extracellular (Potential).|Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) AGGAGCAGCTCAACACTCGCA 0.607 NaN 0 0 0 0.007291 0 23 173 KPNB1 3837 broad.mit.edu 37 17 45747074 45747074 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:45747074G>C uc002ilt.1 + 11 1591 c.1255G>C c.(1255-1257)GAC>CAC p.D419H KPNB1_uc010wkw.1_Missense_Mutation_p.D274H|KPNB1_uc010wkx.1_Missense_Mutation_p.D203H NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 419 HEAT 6.|Ran-GTP binding. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 ATTAATGAAAGACCCCAGTGT 0.408 NaN 0 0 0 0.012319 0 15 114 LRRC46 90506 broad.mit.edu 37 17 45909489 45909489 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:45909489G>A uc002ima.2 + 2 290 c.34G>A c.(34-36)GAA>AAA p.E12K MRPL10_uc010wky.1_5'Flank|MRPL10_uc002ilz.2_5'Flank|MRPL10_uc002ily.2_5'Flank|LRRC46_uc002imb.2_5'UTR NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 12 ovary(1) 1 GGGTCCAGAGGAAGGGGGCGT 0.532 NaN 0 0 0 0.008871 0 16 155 SCRN2 90507 broad.mit.edu 37 17 45916235 45916235 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:45916235G>C uc002imd.2 - 5 820 c.694C>G c.(694-696)CTG>GTG p.L232V SCRN2_uc002imc.2_Missense_Mutation_p.L240V|SCRN2_uc002imf.2_Missense_Mutation_p.L232V|SCRN2_uc002ime.2_RNA NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN secernin 2 isoform 1 232 proteolysis dipeptidase activity ovary(1) 1 TGCTGGGTCAGGGAGAAGATC 0.662 NaN 0 0 0 0.007291 0 27 202 IGF2BP1 10642 broad.mit.edu 37 17 47109291 47109291 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:47109291G>A uc002iom.2 + 5 691 c.357G>A c.(355-357)ACG>ACA p.T119T IGF2BP1_uc010dbj.2_Silent_p.T119T NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 119 RRM 2. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 AGAGTGAGACGGCAGTGGTGA 0.577 NaN OREG0024529 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 53 348 MYST2 11143 broad.mit.edu 37 17 47886483 47886483 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:47886483G>A uc002ipm.2 + 6 792 c.666G>A c.(664-666)GTG>GTA p.V222V MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Silent_p.V83V|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Silent_p.V66V|MYST2_uc010wme.1_Intron NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 222 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GGTTGCAGGTGAGAGCACAGA 0.393 NaN 0 0 0 0.00308 0 7 56 ITGA3 3675 broad.mit.edu 37 17 48155409 48155409 + Splice_Site SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:48155409G>A uc010dbl.2 + 17 2604 c.2140_splice c.e17-1 p.M714_splice ITGA3_uc010dbm.2_Splice_Site_p.M714_splice NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 CCTTGTGGCAGATGGAGCTGC 0.592 NaN 0 0 0 0.004007 0 13 158 PPP1R9B 84687 broad.mit.edu 37 17 48218657 48218657 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:48218657G>C uc002iqh.3 - 6 1710 c.1707C>G c.(1705-1707)CTC>CTG p.L569L NM_032595 NP_115984 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 567 PDZ. cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity 0 TGGTGTTCCGGAGCACAGACG 0.627 NaN 0 0 0 0.009096 0 3 16 TOM1L1 10040 broad.mit.edu 37 17 53014503 53014503 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:53014503C>A uc002iud.2 + 10 1124 c.949C>A c.(949-951)CTC>ATC p.L317I TOM1L1_uc002iuc.2_Missense_Mutation_p.L317I|TOM1L1_uc010dca.1_Missense_Mutation_p.L317I|TOM1L1_uc010wnb.1_Missense_Mutation_p.L310I|TOM1L1_uc010wnc.1_Missense_Mutation_p.L240I|TOM1L1_uc010dbz.2_Missense_Mutation_p.L240I|TOM1L1_uc010wnd.1_Missense_Mutation_p.L205I|TOM1L1_uc010dcb.1_RNA NM_005486 NP_005477 O75674 TM1L1_HUMAN target of myb1-like 1 317 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding ovary(1) 1 ATCTCAAGATCTCCTCGACCT 0.433 NaN 1 0 5.16669e-11 0.010729 5.47956e-11 10 81 SFRS1 6426 broad.mit.edu 37 17 56082931 56082931 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:56082931C>G uc002ivi.2 - 4 792 c.583G>C c.(583-585)GAT>CAT p.D195H SFRS1_uc002ivj.2_3'UTR NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 195 RRM 2. Missing: In MR-E; loss of ability to activate splicing.|Missing: In MR-D; loss of ability to activate splicing.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) CTGGGCCCATCAACTTTAACC 0.463 NaN 0 0 0 0.006214 0 7 83 SEPT4 5414 broad.mit.edu 37 17 56606496 56606496 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:56606496C>T uc002iwm.1 - 1 168 c.40G>A c.(40-42)GAG>AAG p.E14K SEPT4_uc002iwk.1_5'Flank|SEPT4_uc010wnw.1_5'Flank|SEPT4_uc002iwl.1_5'Flank|SEPT4_uc002iwn.1_Missense_Mutation_p.E14K|SEPT4_uc002iwo.1_Intron|SEPT4_uc002iwp.1_Intron|SEPT4_uc010wnx.1_Intron|SEPT4_uc010wny.1_Intron|SEPT4_uc010dcy.1_Intron NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 14 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTCCTGTCCTCAGGGACAGAA 0.552 NaN 0 0 0 0.004878 0 24 132 RNFT1 51136 broad.mit.edu 37 17 58040624 58040624 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:58040624C>G uc002iya.2 - 2 171 c.78G>C c.(76-78)AAG>AAC p.K26N uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.K26N|RNFT1_uc002iyd.3_Missense_Mutation_p.K26N NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 26 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) ACCCAGATGTCTTTGCTTCAG 0.433 NaN 0 0 0 0.001368 0 11 75 MARCH10 162333 broad.mit.edu 37 17 60814201 60814201 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:60814201G>C uc010ddr.2 - 6 1266 c.1028C>G c.(1027-1029)TCT>TGT p.S343C MARCH10_uc002jag.3_Missense_Mutation_p.S343C|MARCH10_uc010dds.2_Missense_Mutation_p.S381C|MARCH10_uc002jah.2_Missense_Mutation_p.S342C|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 343 ligase activity|zinc ion binding 0 TCTTCTTGAAGAATGACCTCT 0.458 NaN 0 0 0 0.00499 0 16 71 ACE 1636 broad.mit.edu 37 17 61566065 61566065 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:61566065G>A uc002jau.1 + 16 2384 c.2362G>A c.(2362-2364)GAG>AAG p.E788K ACE_uc002jav.1_Missense_Mutation_p.E214K|ACE_uc010ddv.1_Missense_Mutation_p.E15K|ACE_uc010wpj.1_Missense_Mutation_p.E214K|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.E98K NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 788 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ATGGGCATGGGAGGGCTGGCG 0.562 NaN 0 0 0 0.006122 0 16 146 MAP3K3 4215 broad.mit.edu 37 17 61767079 61767079 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:61767079G>A uc002jbg.2 + 11 1366 c.1047G>A c.(1045-1047)AGG>AGA p.R349R MAP3K3_uc002jbe.2_Silent_p.R380R|MAP3K3_uc002jbf.2_Silent_p.R380R|MAP3K3_uc002jbh.2_Silent_p.R376R|MAP3K3_uc010wpo.1_Silent_p.R264R|MAP3K3_uc010wpp.1_Silent_p.R345R NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 349 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 TGCAGGAGAGGAATGTGCCAA 0.627 NaN 0 0 0 0.000602 0 3 50 CACNG5 27091 broad.mit.edu 37 17 64880760 64880760 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:64880760C>T uc010wqi.1 + 5 789 c.552C>T c.(550-552)ATC>ATT p.I184I CACNG5_uc002jfr.2_Silent_p.I184I|CACNG5_uc010wqj.1_Silent_p.I184I NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 184 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TCGCCGCCATCTCCTTCCTTT 0.552 NaN 0 0 0 0.002299 0 19 108 BPTF 2186 broad.mit.edu 37 17 65925584 65925584 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:65925584G>A uc002jgf.2 + 17 6192 c.6131G>A c.(6130-6132)GGA>GAA p.G2044E BPTF_uc002jge.2_Missense_Mutation_p.G2170E NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2170 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GGCTCTGGAGGAACCACAAGC 0.398 NaN 0 0 0 0.00308 0 8 37 SDK2 54549 broad.mit.edu 37 17 71348646 71348646 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:71348646G>A uc010dfm.2 - 41 5724 c.5724C>T c.(5722-5724)TTC>TTT p.F1908F SDK2_uc002jjt.3_Silent_p.F1048F NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1908 Fibronectin type-III 13.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 TGGGGGTGCCGAAACCATAGT 0.647 NaN 0 0 0 0.000602 0 3 42 KIF19 124602 broad.mit.edu 37 17 72348427 72348427 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:72348427G>A uc002jkm.3 + 14 2066 c.1928G>A c.(1927-1929)GGC>GAC p.G643D KIF19_uc002jkl.2_Missense_Mutation_p.G601D NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 643 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CTGGAGGAGGGCAGCCTGGAG 0.672 NaN 0 0 0 0.009096 0 4 44 GRIN2C 2905 broad.mit.edu 37 17 72846450 72846450 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:72846450G>C uc002jlt.1 - 6 1542 c.1386C>G c.(1384-1386)CTC>CTG p.L462L GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.L462L NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 462 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CCAGCTTCTTGAGGATGTCGA 0.592 NaN 0 0 0 0.003755 0 30 305 FDXR 2232 broad.mit.edu 37 17 72859310 72859310 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:72859310C>T uc002jly.2 - 11 1320 c.1233G>A c.(1231-1233)ATG>ATA p.M411I GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.M359I|FDXR_uc010wrj.1_Missense_Mutation_p.M409I|FDXR_uc002jlw.2_Missense_Mutation_p.M168I|FDXR_uc002jlx.2_Missense_Mutation_p.M417I|FDXR_uc002jmc.2_Missense_Mutation_p.M383I|FDXR_uc010wrk.1_Missense_Mutation_p.M442I|FDXR_uc010wrl.1_Missense_Mutation_p.M454I|FDXR_uc002jma.2_Missense_Mutation_p.M412I|FDXR_uc010wrm.1_Missense_Mutation_p.M371I|FDXR_uc002jlz.2_Missense_Mutation_p.M403I|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 411 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) AGCTGTCAGTCATGGTTGTGG 0.632 NaN 0 0 0 0.001984 0 5 54 SUMO2 6613 broad.mit.edu 37 17 73164461 73164461 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:73164461G>C uc002jne.2 - 4 430 c.261C>G c.(259-261)TTC>TTG p.F87L SUMO2_uc002jnf.2_Missense_Mutation_p.F63L NM_006937 NP_008868 P61956 SUMO2_HUMAN SMT3 suppressor of mif two 3 homolog 2 isoform a 87 Ubiquitin-like. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding 0 all_lung(278;0.14)|Lung NSC(278;0.168) TCTGCTGTTGGAACACATCAA 0.353 NaN 0 0 0 0.009096 0 2 11 SAP30BP 29115 broad.mit.edu 37 17 73663485 73663485 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:73663485C>G uc002jpe.2 + 1 87 c.33C>G c.(31-33)CTC>CTG p.L11L RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Silent_p.L11L|SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Silent_p.L11L NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 11 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGTCGTCTCTCGCAGTTTACG 0.607 NaN 0 0 0 0.006122 0 12 73 ITGB4 3691 broad.mit.edu 37 17 73753570 73753570 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:73753570G>C uc002jpg.2 + 40 5590 c.5403G>C c.(5401-5403)GTG>GTC p.V1801V ITGB4_uc002jph.2_Silent_p.V1731V|ITGB4_uc002jpi.3_Silent_p.V1731V|ITGB4_uc002jpj.2_Silent_p.V1784V|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1801 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGAGTTTGTGAGCCGGACAC 0.637 NaN 0 0 0 0.00632 0 24 143 TRIM47 91107 broad.mit.edu 37 17 73872363 73872363 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:73872363C>T uc002jpw.2 - 3 1009 c.982G>A c.(982-984)GAC>AAC p.D328N TRIM47_uc002jpv.2_Missense_Mutation_p.D90N NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 328 cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGACTGAGTCAGCTTCAGGG 0.662 NaN 0 0 0 0.001855 0 10 26 EVPL 2125 broad.mit.edu 37 17 74005809 74005809 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:74005809G>A uc002jqi.2 - 22 3705 c.3477C>T c.(3475-3477)CTC>CTT p.L1159L EVPL_uc010wss.1_Silent_p.L1181L|EVPL_uc010wst.1_Silent_p.L629L NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1159 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TCTCCTCCTCGAGGAGGCTCC 0.627 NaN 0 0 0 0.009096 0 4 63 TNRC6C 57690 broad.mit.edu 37 17 76047219 76047219 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:76047219G>A uc002jud.2 + 4 2676 c.2076G>A c.(2074-2076)TGG>TGA p.W692* TNRC6C_uc002juf.2_Nonsense_Mutation_p.W692*|TNRC6C_uc002jue.2_Nonsense_Mutation_p.W692* NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 692 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GAACAGGGTGGATCGGGGGGC 0.542 NaN 0 0 0 0.00308 0 7 19 TNRC6C 57690 broad.mit.edu 37 17 76089176 76089176 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:76089176C>T uc002jud.2 + 16 4733 c.4133C>T c.(4132-4134)TCA>TTA p.S1378L TNRC6C_uc002juf.2_Missense_Mutation_p.S1375L NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1378 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GATAAAATCTCAAATGGCTCT 0.512 NaN 0 0 0 0.001984 0 5 49 TMC6 11322 broad.mit.edu 37 17 76113906 76113906 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:76113906G>C uc002juj.1 - 15 2124 c.1998C>G c.(1996-1998)GTC>GTG p.V666V TMC6_uc002jui.1_Silent_p.V245V|TMC6_uc010dhf.1_Silent_p.V499V|TMC6_uc002juk.2_Silent_p.V666V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.V666V NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 666 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCAGAGGAAGACAGCGGCGC 0.687 NaN Epidermodysplasia_Verruciformis_Familial_Clustering_of 0 0 0 0.00308 0 5 27 DNAH17 8632 broad.mit.edu 37 17 76540022 76540022 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:76540022C>T uc002jvv.1 - 13 1661 c.1555G>A c.(1555-1557)GAC>AAC p.D519N RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCATCCAAGTCTAACAGGGCC 0.502 NaN 0 0 0 0.00278 0 22 125 CHMP6 79643 broad.mit.edu 37 17 78971126 78971126 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:78971126G>A uc002jyw.3 + 6 558 c.480G>A c.(478-480)CTG>CTA p.L160L NM_024591 NP_078867 Q96FZ7 CHMP6_HUMAN chromatin modifying protein 6 160 cellular membrane organization|endosome transport|protein transport cytosol|endomembrane system|late endosome membrane protein N-terminus binding ovary(1) 1 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGGAGGAGCTGAGCGCAATCA 0.632 NaN 0 0 0 0.001168 0 5 32 ACTG1 71 broad.mit.edu 37 17 79479015 79479015 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:79479015C>A uc002kaj.1 - 2 302 c.277G>T c.(277-279)GAG>TAG p.E93* ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Nonsense_Mutation_p.E50*|ACTG1_uc002kak.1_Nonsense_Mutation_p.E93*|ACTG1_uc010wun.1_Nonsense_Mutation_p.E93*|ACTG1_uc002kal.1_Nonsense_Mutation_p.E93*|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 93 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) ACGCGCAGCTCGTTGTAGAAG 0.617 NaN 1 0 1.30897e-18 0.009535 1.41134e-18 25 113 C17orf90 339229 broad.mit.edu 37 17 79632293 79632293 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:79632293C>G uc002kba.2 - 2 393 c.382G>C c.(382-384)GAT>CAT p.D128H C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank NM_001039842 NP_001034931 Q5BKU9 CQ090_HUMAN hypothetical protein LOC339229 128 0 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGGTTCTCATCAGCCACGTGC 0.667 NaN 0 0 0 0.004482 0 8 93 P4HB 5034 broad.mit.edu 37 17 79817199 79817199 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:79817199C>T uc002kbn.1 - 2 407 c.210G>A c.(208-210)CTG>CTA p.L70L P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 70 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CTTCTGCCTTCAGCTTCCCAG 0.602 NaN 0 0 0 0.004656 0 23 160 RAB40B 10966 broad.mit.edu 37 17 80616443 80616443 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr17:80616443G>A uc002kft.2 - 5 615 c.489C>T c.(487-489)ATC>ATT p.I163I RAB40B_uc002kfs.2_RNA NM_006822 NP_006813 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 163 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1) 1 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) ACGACTCTGTGATGTTGAAAT 0.657 NaN 0 0 0 0.001984 0 7 183 MYOM1 8736 broad.mit.edu 37 18 3131437 3131437 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:3131437G>C uc002klp.2 - 17 2776 c.2442C>G c.(2440-2442)GTC>GTG p.V814V MYOM1_uc002klq.2_Silent_p.V814V NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 814 Fibronectin type-III 3. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CAGCTGCATTGACTGCTCTGA 0.378 NaN 0 0 0 0.00308 0 6 25 ARHGAP28 79822 broad.mit.edu 37 18 6896547 6896547 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:6896547C>G uc010wzi.1 + 15 1659 c.1421C>G c.(1420-1422)TCC>TGC p.S474C ARHGAP28_uc002knc.2_Missense_Mutation_p.S599C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S492C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S492C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S483C B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 474 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) CCACTTCTCTCCAAGGTGTCC 0.443 NaN 0 0 0 0.003163 0 13 67 LAMA3 3909 broad.mit.edu 37 18 21355773 21355773 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:21355773G>A uc002kuq.2 + 10 1377 c.1291G>A c.(1291-1293)GAG>AAG p.E431K LAMA3_uc010dlv.1_Missense_Mutation_p.E431K|LAMA3_uc002kur.2_Missense_Mutation_p.E431K NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 431 Laminin EGF-like 3.|Domain V. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTGACCCTGAGCATGCGGA 0.483 NaN 0 0 0 0.006214 0 8 25 SS18 6760 broad.mit.edu 37 18 23619259 23619259 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:23619259G>T uc002kvm.2 - 6 847 c.769C>A c.(769-771)CAA>AAA p.Q257K SS18_uc002kvn.2_Missense_Mutation_p.Q257K|SS18_uc010xbf.1_Missense_Mutation_p.Q175K|SS18_uc010xbg.1_Missense_Mutation_p.Q205K|SS18_uc010xbh.1_Missense_Mutation_p.Q205K|SS18_uc010xbi.1_Missense_Mutation_p.Q234K|SS18_uc010dlz.1_Missense_Mutation_p.Q205K NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 257 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TTACCCTGTTGAGGAGGTCTA 0.393 NaN T SSX1| SSX2 synovial sarcoma 1 0 2.32078e-09 0.003163 2.45329e-09 13 69 C18orf34 374864 broad.mit.edu 37 18 30926330 30926330 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:30926330G>T uc002kxn.2 - 8 645 c.503C>A c.(502-504)TCA>TAA p.S168* C18orf34_uc010xbr.1_Nonsense_Mutation_p.S168*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.S168*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.S168* NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 168 Potential. ovary(1) 1 AATGGCCTCTGAGAGCAATGT 0.348 NaN 1 0 5.18039e-06 0.00308 5.3926e-06 5 36 KIAA1632 57724 broad.mit.edu 37 18 43467730 43467730 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:43467730C>G uc002lbm.2 - 29 5195 c.5095G>C c.(5095-5097)GAG>CAG p.E1699Q KIAA1632_uc010xcq.1_Missense_Mutation_p.E253Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.E574Q NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1699 autophagy 0 CCCAAGATCTCAATACATGAA 0.433 NaN 0 0 0 0.007413 0 13 54 TCEB3C 162699 broad.mit.edu 37 18 44555295 44555295 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:44555295C>A uc010xdb.1 - 1 1155 c.919G>T c.(919-921)GAG>TAG p.E307* KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 GCAGCTTCCTCCTGGAGCGCT 0.637 NaN 1 0 3.52763e-06 0.00499 3.67509e-06 19 864 LIPG 9388 broad.mit.edu 37 18 47101785 47101785 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:47101785G>C uc002ldv.2 + 5 870 c.618G>C c.(616-618)AAG>AAC p.K206N LIPG_uc002ldu.1_Missense_Mutation_p.K206N|LIPG_uc010xdh.1_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 206 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 ACATCCACAAGAGGCTCTCTC 0.567 NaN 0 0 0 0.010729 0 10 50 MBD1 4152 broad.mit.edu 37 18 47799277 47799277 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:47799277C>G uc010dow.1 - 14 2070 c.1633G>C c.(1633-1635)GAG>CAG p.E545Q MBD1_uc002lef.2_Missense_Mutation_p.E250Q|MBD1_uc002leg.2_Missense_Mutation_p.E495Q|MBD1_uc010xdi.1_Missense_Mutation_p.E596Q|MBD1_uc002leh.3_Missense_Mutation_p.E489Q|MBD1_uc002len.2_Missense_Mutation_p.E499Q|MBD1_uc002lei.3_Missense_Mutation_p.E545Q|MBD1_uc002lej.3_Missense_Mutation_p.E443Q|MBD1_uc002lek.3_Missense_Mutation_p.E496Q|MBD1_uc002lel.3_Missense_Mutation_p.E476Q|MBD1_uc002lem.3_Missense_Mutation_p.E545Q|MBD1_uc010xdj.1_Missense_Mutation_p.E443Q|MBD1_uc010xdk.1_Missense_Mutation_p.E570Q|MBD1_uc010dox.1_Missense_Mutation_p.E476Q|MBD1_uc002leo.2_Missense_Mutation_p.E499Q NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 545 TRD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTGTCCTCCTCTGGGTCAGGT 0.582 NaN 0 0 0 0.010818 0 29 127 NARS 4677 broad.mit.edu 37 18 55273932 55273932 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:55273932C>G uc002lgs.2 - 10 1281 c.1053G>C c.(1051-1053)CTG>CTC p.L351L NARS_uc002lgt.2_Silent_p.L350L|NARS_uc010xea.1_Silent_p.L102L NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 351 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) CCAACCGGTTCAGGAGGTCGT 0.493 NaN 0 0 0 0.004656 0 21 130 ALPK2 115701 broad.mit.edu 37 18 56247584 56247584 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:56247584C>T uc002lhj.3 - 4 638 c.424G>A c.(424-426)GAG>AAG p.E142K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 142 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TGTTCCTTCTCATCAATCTGA 0.493 NaN 0 0 0 0.008871 0 14 93 CBLN2 147381 broad.mit.edu 37 18 70205477 70205477 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:70205477C>T uc002lku.2 - 4 844 c.609G>A c.(607-609)GAG>GAA p.E203E CBLN2_uc002lkv.2_Silent_p.E203E NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 203 C1q. integral to membrane 0 Esophageal squamous(42;0.131) GGTTGCCTCTCTCAAGTTTGA 0.527 NaN 0 0 0 0.00308 0 7 76 ZNF407 55628 broad.mit.edu 37 18 72343136 72343136 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:72343136C>T uc002llw.2 + 1 218 c.161C>T c.(160-162)TCA>TTA p.S54L ZNF407_uc010xfc.1_Missense_Mutation_p.S54L|ZNF407_uc010dqu.1_Missense_Mutation_p.S54L|ZNF407_uc002llu.2_Missense_Mutation_p.S53L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AGAGGTTTTTCAGAATCATCG 0.413 NaN 0 0 0 0.001984 0 7 24 GALR1 2587 broad.mit.edu 37 18 74962762 74962762 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr18:74962762C>G uc002lms.3 + 1 755 c.258C>G c.(256-258)CTC>CTG p.L86L NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 86 Helical; Name=2; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CCTACCTGCTCTTCTGCATCC 0.622 NaN 0 0 0 0.00361 0 55 200 PALM 5064 broad.mit.edu 37 19 746781 746781 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:746781G>A uc002lpm.1 + 9 1325 c.1131G>A c.(1129-1131)AAG>AAA p.K377K PALM_uc002lpn.1_Silent_p.K333K|PALM_uc010xfu.1_Silent_p.K242K NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 377 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) TCGACATGAAGAAGCACCGTT 0.701 NaN 0 0 0 0.001168 0 4 25 LPPR3 79948 broad.mit.edu 37 19 814710 814710 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:814710G>A uc002lpx.1 - 6 703 c.639C>T c.(637-639)TTC>TTT p.F213F LPPR3_uc010dru.1_Silent_p.F125F|LPPR3_uc002lpw.1_Silent_p.F213F|LPPR3_uc002lpy.1_5'UTR NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 213 Helical; (Potential). integral to membrane phosphatidate phosphatase activity 0 AGACCGCGGCGAAGGCTGACA 0.697 NaN 0 0 0 0.001855 0 11 90 SBNO2 22904 broad.mit.edu 37 19 1123979 1123979 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:1123979G>A uc002lrk.3 - 6 722 c.484C>T c.(484-486)CTG>TTG p.L162L SBNO2_uc002lrj.3_Silent_p.L105L|SBNO2_uc010dse.2_Silent_p.L155L|SBNO2_uc010xgj.1_Silent_p.L105L|SBNO2_uc010dsf.2_Silent_p.L105L NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 162 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGAGGGCAGAAAGTCCTCG 0.657 NaN 0 0 0 0.004482 0 6 58 APC2 10297 broad.mit.edu 37 19 1461973 1461973 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:1461973G>A uc002lsr.1 + 14 1858 c.1650G>A c.(1648-1650)CTG>CTA p.L550L APC2_uc002lss.1_Silent_p.L132L|APC2_uc002lst.1_Silent_p.L550L|APC2_uc002lsu.1_Silent_p.L549L|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 550 ARM 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCCACCCTGAAGAGCGTGC 0.632 NaN 0 0 0 0.008291 0 7 60 APC2 10297 broad.mit.edu 37 19 1462069 1462069 + Silent SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:1462069G>T uc002lsr.1 + 14 1954 c.1746G>T c.(1744-1746)GTG>GTT p.V582V APC2_uc002lss.1_Silent_p.V164V|APC2_uc002lst.1_Silent_p.V582V|APC2_uc002lsu.1_Silent_p.V581V|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 582 ARM 4. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCCTGGTGAGCACCCTGA 0.637 NaN 1 0 2.39556e-15 0.00278 2.57008e-15 18 115 ATP8B3 148229 broad.mit.edu 37 19 1811570 1811570 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:1811570C>T uc002ltw.2 - 2 400 c.166G>A c.(166-168)GAC>AAC p.D56N ATP8B3_uc002ltv.2_Missense_Mutation_p.D3N|ATP8B3_uc002ltx.2_Intron|ATP8B3_uc002ltz.1_Missense_Mutation_p.D3N NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 56 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGGGAGTCTCCCATCCCA 0.637 NaN 0 0 0 0.004482 0 3 57 DOT1L 84444 broad.mit.edu 37 19 2222186 2222186 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:2222186C>G uc002lvb.3 + 24 3054 c.3018C>G c.(3016-3018)CTC>CTG p.L1006L DOT1L_uc002lvc.1_Silent_p.L300L|DOT1L_uc002lve.1_3'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 1006 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) CCCACCAGCTCTCCTCCAGTC 0.697 NaN 0 0 0 0.002299 0 19 125 ZNF556 80032 broad.mit.edu 37 19 2876263 2876263 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:2876263G>A uc002lwp.1 + 3 390 c.303G>A c.(301-303)GAG>GAA p.E101E ZNF556_uc002lwq.2_Silent_p.E101E NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 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) ACACCAAGGAGAGACATTTGA 0.264 NaN 0 0 0 0.00245 0 14 79 TLE2 7089 broad.mit.edu 37 19 3017853 3017853 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:3017853C>T uc002lww.2 - 8 818 c.555G>A c.(553-555)GAG>GAA p.E185E TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Silent_p.E186E|TLE2_uc010xhc.1_Intron|TLE2_uc010dti.2_Silent_p.E199E|TLE2_uc010xhd.1_Intron NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 185 Gly/Pro-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) TCGGGGCTCTCTCCACTGACA 0.522 NaN 0 0 0 0.001984 0 6 48 TLE2 7089 broad.mit.edu 37 19 3019709 3019709 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:3019709G>C uc002lww.2 - 6 620 c.357C>G c.(355-357)AAC>AAG p.N119K TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.N119K|TLE2_uc010xhc.1_Missense_Mutation_p.N64K|TLE2_uc010dti.2_Missense_Mutation_p.N132K|TLE2_uc010xhd.1_Intron NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 119 Gln-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) CGATGAGGCTGTTCAGCTCCC 0.647 NaN 0 0 0 0.006214 0 9 43 CREB3L3 84699 broad.mit.edu 37 19 4154998 4154998 + Missense_Mutation SNP G G A rs143652660 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:4154998G>A uc002lzl.2 + 2 246 c.130G>A c.(130-132)GAG>AAG p.E44K CREB3L3_uc002lzm.2_Missense_Mutation_p.E35K|CREB3L3_uc010xib.1_Missense_Mutation_p.E35K|CREB3L3_uc010xic.1_Missense_Mutation_p.E35K NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 44 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCTGGGCGAGGGCTGGGG 0.642 NaN 0 0 0 0.004289 0 28 181 MPND 84954 broad.mit.edu 37 19 4345945 4345945 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:4345945C>G uc002mae.2 + 3 565 c.498C>G c.(496-498)CAC>CAG p.H166Q MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.H166Q|MPND_uc002maf.2_Missense_Mutation_p.H166Q|MPND_uc002mah.2_Missense_Mutation_p.H54Q|MPND_uc002mai.2_Missense_Mutation_p.H54Q NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 166 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGGCTGCACCAGCTGCACA 0.632 NaN 0 0 0 0.004672 0 3 34 UBXN6 80700 broad.mit.edu 37 19 4446589 4446589 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:4446589G>C uc002man.1 - 8 924 c.828C>G c.(826-828)GTC>GTG p.V276V UBXN6_uc010dty.1_Silent_p.V180V|UBXN6_uc002mam.1_Silent_p.V223V NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 276 microtubule organizing center|nucleus protein binding 0 AGGGCTGGAAGACGCGGCGCT 0.672 NaN 0 0 0 0.00245 0 11 111 LRG1 116844 broad.mit.edu 37 19 4538477 4538477 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:4538477C>T uc002mau.2 - 2 530 c.519G>A c.(517-519)GGG>GGA p.G173G PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 173 LRR 4. extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGGCGGTTCCCAGACAGGT 0.622 NaN 0 0 0 0.010771 0 34 218 INSR 3643 broad.mit.edu 37 19 7166277 7166277 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:7166277G>C uc002mgd.1 - 8 1858 c.1749C>G c.(1747-1749)CTC>CTG p.L583L INSR_uc002mge.1_Silent_p.L583L|INSR_uc002mgf.2_Silent_p.L583L NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 583 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCAGGGCTTGAGACCCCGCA 0.557 NaN 0 0 0 0.004482 0 8 70 ARHGEF18 23370 broad.mit.edu 37 19 7523533 7523533 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:7523533G>A uc002mgi.2 + 9 2006 c.1753G>A c.(1753-1755)GAC>AAC p.D585N ARHGEF18_uc010xjm.1_Missense_Mutation_p.D427N|ARHGEF18_uc002mgh.2_Missense_Mutation_p.D427N|ARHGEF18_uc002mgj.1_Missense_Mutation_p.D228N NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 585 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) CTCCAAAGAGGACAGGAACGC 0.582 NaN 0 0 0 0.006214 0 8 46 LRRC8E 80131 broad.mit.edu 37 19 7960596 7960596 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:7960596C>G uc002mir.2 + 2 209 c.108C>G c.(106-108)CTC>CTG p.L36L NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 36 Helical; (Potential). integral to membrane lung(1)|pancreas(1) 2 TGGCCATGCTCATGATTGGGG 0.642 NaN 0 0 0 0.004007 0 14 117 FBN3 84467 broad.mit.edu 37 19 8175799 8175799 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:8175799G>A uc002mjf.2 - 33 4284 c.4263C>T c.(4261-4263)AAC>AAT p.N1421N NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1421 EGF-like 22; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TTCCAGGCAGGTTCTCACAGC 0.622 NaN 0 0 0 0.00874 0 38 205 ANGPTL4 51129 broad.mit.edu 37 19 8438619 8438619 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:8438619C>G uc002mjq.1 + 7 1265 c.1070C>G c.(1069-1071)TCC>TGC p.S357C ANGPTL4_uc002mjr.1_Missense_Mutation_p.S319C|ANGPTL4_uc010xkc.1_Missense_Mutation_p.S190C NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor 357 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 TGCAGCCATTCCAACCTCAAC 0.607 NaN 0 0 0 0.00361 0 66 501 ADAMTS10 81794 broad.mit.edu 37 19 8661945 8661945 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:8661945C>T uc002mkj.1 - 8 1240 c.966G>A c.(964-966)GTG>GTA p.V322V ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 322 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 CGCTGTGGTTCACGATGGATT 0.572 NaN 0 0 0 0.00499 0 15 155 MUC16 94025 broad.mit.edu 37 19 9002669 9002669 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:9002669C>T uc002mkp.2 - 51 40351 c.40147G>A c.(40147-40149)GAG>AAG p.E13383K MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E200K|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13385 Extracellular (Potential).|SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCATCCTTCTCAGGCCTAGGG 0.547 NaN 0 0 0 0.001168 0 5 37 MUC16 94025 broad.mit.edu 37 19 9062124 9062124 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:9062124G>T uc002mkp.2 - 3 25526 c.25322C>A c.(25321-25323)CCC>CAC p.P8441H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8443 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCACCACTGGGCACTTCAGA 0.522 NaN 1 0 3.27435e-08 0.00245 3.44725e-08 14 71 MUC16 94025 broad.mit.edu 37 19 9091500 9091500 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:9091500C>T uc002mkp.2 - 1 519 c.315G>A c.(313-315)CTG>CTA p.L105L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 105 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCTGGGGACTCAGCGATGGGC 0.537 NaN 0 0 0 0.002299 0 22 130 ZNF846 162993 broad.mit.edu 37 19 9873968 9873968 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:9873968G>A uc002mmb.1 - 3 663 c.132C>T c.(130-132)CTC>CTT p.L44L ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTAGTATAATGAGATTCTTGT 0.408 NaN 0 0 0 0.010729 0 8 61 OLFM2 93145 broad.mit.edu 37 19 9967498 9967498 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:9967498G>A uc002mmp.2 - 5 700 c.672C>T c.(670-672)CCC>CCT p.P224P OLFM2_uc002mmo.2_Silent_p.P146P NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 224 Olfactomedin-like. extracellular region large_intestine(1)|skin(1) 2 TATCCGCACTGGGGGCCATCG 0.662 NaN 0 0 0 0.00245 0 10 53 PDE4A 5141 broad.mit.edu 37 19 10577958 10577959 + Missense_Mutation DNP GG GG TA TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:10577958_10577959GG>TA uc002moj.2 + 15 2430_2431 c.2322_2323GG>TA c.(2320-2325)CTGGAG>CTTAAG p.E775K PDE4A_uc002mok.2_Missense_Mutation_p.E749K|PDE4A_uc002mol.2_Missense_Mutation_p.E714K|PDE4A_uc002mom.2_Missense_Mutation_p.E536K|PDE4A_uc002mon.2_Missense_Mutation_p.E230K|PDE4A_uc002moo.2_3'UTR NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 775 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AGGCCGAGCTGGAGGCAGTGTA 0.594 NaN 0 0 0 0.004672 0 19 165 KANK2 25959 broad.mit.edu 37 19 11286644 11286644 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:11286644G>A uc010dxv.2 - 10 2340 c.1782C>T c.(1780-1782)CTC>CTT p.L594L KANK2_uc002mqm.2_Silent_p.L602L|KANK2_uc002mqo.3_Silent_p.L594L|KANK2_uc002mqp.1_Silent_p.L403L NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 594 0 AGGCTGAGATGAGGTCAGGGC 0.607 NaN 0 0 0 0.006122 0 14 152 RAB3D 9545 broad.mit.edu 37 19 11448060 11448060 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:11448060C>T uc002mqy.2 - 2 254 c.16G>A c.(16-18)GAC>AAC p.D6N NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 6 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 GCCTGGGTGTCTCCAGCTGAT 0.498 NaN 0 0 0 0.00278 0 22 170 ZNF564 163050 broad.mit.edu 37 19 12639430 12639430 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:12639430G>C uc002mty.2 - 2 294 c.84C>G c.(82-84)CTC>CTG p.L28L ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATCTCTGTAGAGTTTCTTCT 0.453 NaN 0 0 0 0.010729 0 10 79 ZNF791 163049 broad.mit.edu 37 19 12739580 12739580 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:12739580G>T uc002mua.2 + 4 1399 c.1237G>T c.(1237-1239)GAG>TAG p.E413* ZNF791_uc010xml.1_Nonsense_Mutation_p.E381*|ZNF791_uc010dyu.1_Nonsense_Mutation_p.E304*|ZNF791_uc010xmm.1_Nonsense_Mutation_p.E304* NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 413 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAAACCCTATGAGTGTAAGGA 0.393 NaN 1 0 0.00448238 0.004482 0.00457775 7 75 ZNF791 163049 broad.mit.edu 37 19 12740000 12740000 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:12740000G>A uc002mua.2 + 4 1819 c.1657G>A c.(1657-1659)GAA>AAA p.E553K ZNF791_uc010xml.1_Missense_Mutation_p.E521K|ZNF791_uc010dyu.1_Missense_Mutation_p.E444K|ZNF791_uc010xmm.1_Missense_Mutation_p.E444K NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 553 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GAAACCTCTTGAATGTAAGCA 0.353 NaN 0 0 0 0.004007 0 13 46 MAST1 22983 broad.mit.edu 37 19 12969528 12969528 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:12969528C>T uc002mvm.2 + 12 1469 c.1341C>T c.(1339-1341)CTC>CTT p.L447L MAST1_uc002mvk.2_Silent_p.L443L NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 447 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GGCGCCACCTCTGCATGGTCA 0.622 NaN 0 0 0 0.00499 0 12 69 GCDH 2639 broad.mit.edu 37 19 13007041 13007041 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:13007041G>A uc002mvq.2 + 8 735 c.658G>A c.(658-660)GAT>AAT p.D220N GCDH_uc010xms.1_Missense_Mutation_p.D187N|GCDH_uc002mvp.2_Missense_Mutation_p.D220N|GCDH_uc010xmt.1_Intron|GCDH_uc010xmu.1_Missense_Mutation_p.D176N NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 220 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 GCCTATGGCCGATCTGTTTGT 0.622 NaN 0 0 0 0.011902 0 38 182 CALR 811 broad.mit.edu 37 19 13054368 13054368 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:13054368C>T uc002mvu.2 + 8 1058 c.978C>T c.(976-978)ATC>ATT p.I326I CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor 326 C-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGCACCATCTTTGACAACT 0.527 NaN 0 0 0 0.00499 0 15 106 RAD23A 5886 broad.mit.edu 37 19 13059132 13059132 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:13059132G>C uc002mvw.1 + 3 485 c.376G>C c.(376-378)GAG>CAG p.E126Q RAD23A_uc002mvx.1_Missense_Mutation_p.E126Q|RAD23A_uc002mvz.1_Missense_Mutation_p.E126Q|RAD23A_uc002mwa.1_Missense_Mutation_p.E126Q|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR NM_005053 NP_005044 P54725 RD23A_HUMAN UV excision repair protein RAD23 homolog A 126 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1) 1 GAGCCCATCAGAGGAATCCGC 0.652 NaN NER 0 0 0 0.008291 0 6 106 OR10H3 26532 broad.mit.edu 37 19 15853149 15853149 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:15853149C>G uc010xoq.1 + 1 947 c.947C>G c.(946-948)TCC>TGC p.S316C NM_013938 NP_039226 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTCTAAGCTCCTAATGGCCA 0.299 NaN 0 0 0 0.009096 0 4 32 FCHO1 23149 broad.mit.edu 37 19 17883460 17883460 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:17883460G>A uc010ebb.2 + 10 889 c.700G>A c.(700-702)GAG>AAG p.E234K FCHO1_uc002nhg.3_Missense_Mutation_p.E234K|FCHO1_uc002nhh.2_Missense_Mutation_p.E234K|FCHO1_uc010xpw.1_Missense_Mutation_p.E184K|FCHO1_uc010ebc.1_Missense_Mutation_p.E241K NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 234 breast(1) 1 ACAGGTGCATGAGGAATTTAA 0.587 NaN 0 0 0 0.012319 0 18 115 JUND 3727 broad.mit.edu 37 19 18391519 18391519 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:18391519G>C uc002nip.2 - 1 914 c.776C>G c.(775-777)TCG>TGG p.S259W hsa-mir-3188|MI0014232_5'Flank NM_005354 NP_005345 P17535 JUND_HUMAN jun D proto-oncogene 259 regulation of transcription from RNA polymerase II promoter chromatin|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 GTCGATGGGCGACAACGGCGG 0.721 NaN 0 0 0 0.003163 0 6 38 LRRC25 126364 broad.mit.edu 37 19 18507660 18507660 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:18507660G>A uc002niw.2 - 1 756 c.114C>T c.(112-114)TTC>TTT p.F38F LRRC25_uc002nix.2_Silent_p.F38F NM_145256 NP_660299 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 precursor 38 Extracellular (Potential). integral to membrane 0 ACGTGGCACTGAACTCCGCGT 0.617 NaN 0 0 0 0.003163 0 15 79 ELL 8178 broad.mit.edu 37 19 18632761 18632761 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:18632761C>T uc002njh.2 - 1 177 c.105G>A c.(103-105)CTG>CTA p.L35L ELL_uc010ebq.2_5'UTR NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 35 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) CGAAGGCCCTCAGGGCACTGT 0.701 NaN T MLL AL 0 0 0 0.00308 0 6 24 UBA52 7311 broad.mit.edu 37 19 18684188 18684188 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:18684188C>G uc002njr.2 + 2 192 c.78C>G c.(76-78)GTC>GTG p.V26V UBA52_uc002njs.2_Silent_p.V26V|UBA52_uc002njt.2_Silent_p.V26V NM_001033930 NP_001029102 P62987 RL40_HUMAN ubiquitin and ribosomal protein L40 precursor 26 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome 0 TTGAGAATGTCAAAGCCAAAA 0.552 NaN 0 0 0 0.008291 0 8 47 DDX49 54555 broad.mit.edu 37 19 19033503 19033503 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:19033503C>T uc002nkq.1 + 6 783 c.726C>T c.(724-726)TTC>TTT p.F242F HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Silent_p.F135F|DDX49_uc002nkt.1_Silent_p.F124F NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 242 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Epithelial(12;0.0289) TCCAGCGCTTCCAGGATGAGC 0.627 NaN 0 0 0 0.002299 0 19 143 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:22155896A>C uc002nqp.2 - 5 1789 c.1640T>G c.(1639-1641)ATT>AGT p.I547S ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398 NaN 0 0 0 0.000602 0 3 56 C19orf2 8725 broad.mit.edu 37 19 30505917 30505917 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:30505917G>A uc002nsr.2 + 11 1579 c.1549G>A c.(1549-1551)GAA>AAA p.E517K C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.E477K|C19orf2_uc002nst.2_Missense_Mutation_p.E441K NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 517 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) GGAAGCATCTGAAGAAACTGG 0.433 NaN 0 0 0 0.010729 0 9 60 ANKRD27 84079 broad.mit.edu 37 19 33135288 33135288 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:33135288G>A uc002ntn.1 - 5 624 c.468C>T c.(466-468)ATC>ATT p.I156I ANKRD27_uc002nto.1_Silent_p.I156I NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 156 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) GGAAAGAGGCGATGTTCCTGT 0.532 NaN 0 0 0 0.00361 0 74 281 ZNF792 126375 broad.mit.edu 37 19 35449696 35449696 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:35449696G>A uc002nxh.1 - 4 1450 c.1063C>T c.(1063-1065)CAG>TAG p.Q355* NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 355 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTCTTATGCTGAATGAGGTTG 0.507 NaN 0 0 0 0.001855 0 12 48 LGI4 163175 broad.mit.edu 37 19 35625566 35625566 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:35625566G>T uc002nxx.2 - 1 613 c.19C>A c.(19-21)CTG>ATG p.L7M LGI4_uc002nxy.1_Intron|LGI4_uc002nxz.1_5'Flank|LGI4_uc002nya.2_Missense_Mutation_p.L7M NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 7 extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) AGCAGCAGCAGAATGCCTGCC 0.687 NaN 1 0 0.00198382 0.001984 0.00202762 6 37 MLL4 9757 broad.mit.edu 37 19 36219890 36219890 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:36219890C>T uc010eei.2 + 22 4692 c.4692C>T c.(4690-4692)TTC>TTT p.F1564F NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1564 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) CTTCAGCATTCCAGGGCAAGG 0.602 NaN 0 0 0 0.007413 0 16 151 THAP8 199745 broad.mit.edu 37 19 36545042 36545042 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:36545042G>C uc002oda.1 - 1 623 c.78C>G c.(76-78)TTC>TTG p.F26L WDR62_uc002odd.2_5'Flank|WDR62_uc002odc.2_5'Flank|THAP8_uc010xtb.1_Intron|THAP8_uc010xtc.1_RNA|WDR62_uc010eer.2_5'Flank|WDR62_uc002odb.2_5'Flank NM_152658 NP_689871 Q8NA92 THAP8_HUMAN THAP domain containing 8 26 THAP-type. DNA binding|metal ion binding 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCACTTGTAGAAGCTCACAG 0.672 NaN 0 0 0 0.006214 0 8 58 ZNF260 339324 broad.mit.edu 37 19 37005801 37005801 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:37005801C>T uc002oee.1 - 4 1184 c.340G>A c.(340-342)GAA>AAA p.E114K ZNF260_uc002oed.1_Missense_Mutation_p.E111K|ZNF260_uc010eey.1_Missense_Mutation_p.E111K|ZNF260_uc002oef.1_Missense_Mutation_p.E111K NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 114 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GAAACTTTTTCACATTCATAA 0.388 NaN 0 0 0 0.001855 0 13 60 ZNF529 57711 broad.mit.edu 37 19 37038544 37038544 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:37038544C>T uc002oeh.3 - 5 1118 c.916G>A c.(916-918)GAT>AAT p.D306N ZNF529_uc010xth.1_Missense_Mutation_p.D306N|ZNF529_uc010xti.1_Missense_Mutation_p.D288N|ZNF529_uc002oeg.3_Missense_Mutation_p.D201N NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) GTTTTCTCATCAGTATGGATT 0.388 NaN 0 0 0 0.001855 0 13 57 ZNF607 84775 broad.mit.edu 37 19 38190626 38190626 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:38190626G>A uc002ohc.1 - 5 1002 c.406C>T c.(406-408)CAT>TAT p.H136Y ZNF607_uc002ohb.1_Missense_Mutation_p.H135Y NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 136 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TCACTAGTATGAATTGTTTGA 0.373 NaN 0 0 0 0.00245 0 11 83 SIPA1L3 23094 broad.mit.edu 37 19 38692599 38692599 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:38692599G>T uc002ohk.2 + 20 5591 c.5082G>T c.(5080-5082)GAG>GAT p.E1694D NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1694 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGAGCCTGGAGAGGGGACCCC 0.647 NaN 1 0 1.33834e-09 0.007413 1.41591e-09 14 136 CATSPERG 57828 broad.mit.edu 37 19 38860798 38860798 + Splice_Site SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:38860798G>A uc002oih.3 + 28 3201 c.3114_splice c.e28-1 p.R1038_splice CATSPERG_uc002oig.3_Splice_Site_p.R998_splice|CATSPERG_uc002oif.3_Splice_Site_p.R678_splice|CATSPERG_uc010efw.2_Splice_Site NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 AACCCCTGCAGAGGAGTGGAC 0.607 NaN 0 0 0 0.00333 0 21 79 EIF3K 27335 broad.mit.edu 37 19 39114742 39114742 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:39114742C>T uc002oiz.1 + 3 371 c.184C>T c.(184-186)CAG>TAG p.Q62* EIF3K_uc010xuh.1_Nonsense_Mutation_p.Q62*|EIF3K_uc010xui.1_5'UTR NM_013234 NP_037366 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, 62 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGCCTTCTTTCAGACCACGGT 0.562 NaN 0 0 0 0.001855 0 10 115 LGALS4 3960 broad.mit.edu 37 19 39292471 39292471 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:39292471G>A uc002ojg.2 - 10 1119 c.905C>T c.(904-906)TCG>TTG p.S302L NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 302 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CTGGAAGGCCGAGAGGCGATG 0.532 NaN 0 0 0 0.001855 0 11 85 PAF1 54623 broad.mit.edu 37 19 39879228 39879228 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:39879228C>T uc002old.2 - 10 1004 c.829G>A c.(829-831)GAG>AAG p.E277K PAF1_uc002ole.1_Missense_Mutation_p.E267K|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 277 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCCATCTCCTCCTCCTGGTCC 0.522 NaN 0 0 0 0.008361 0 29 94 PAF1 54623 broad.mit.edu 37 19 39879261 39879261 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:39879261C>T uc002old.2 - 10 971 c.796G>A c.(796-798)GAG>AAG p.E266K PAF1_uc002ole.1_Missense_Mutation_p.E256K|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 266 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TTCAACGTCTCTTCTACAGGC 0.512 NaN 0 0 0 0.00499 0 16 68 DMRTC2 63946 broad.mit.edu 37 19 42354706 42354706 + Missense_Mutation SNP T T C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:42354706T>C uc002ors.2 + 8 1012 c.929T>C c.(928-930)GTG>GCG p.V310A DMRTC2_uc002orr.1_Missense_Mutation_p.V238A|DMRTC2_uc010xwe.1_Missense_Mutation_p.V361A NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 310 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 GCTCCTCGTGTGACCCCTTCT 0.632 NaN 0 0 0 0.003954 0 21 74 GRIK5 2901 broad.mit.edu 37 19 42509942 42509942 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:42509942G>A uc002osj.1 - 16 2231 c.2196C>T c.(2194-2196)CTC>CTT p.L732L GRIK5_uc002osi.1_Silent_p.L304L NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 732 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGTTGCAGTTGAGGCGCCGGT 0.622 NaN 0 0 0 0.001984 0 6 50 ZNF526 116115 broad.mit.edu 37 19 42728868 42728868 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:42728868G>A uc002osz.1 + 3 469 c.313G>A c.(313-315)GAG>AAG p.E105K NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) GCCGGGTGCTGAGGGGCCCTT 0.622 NaN 0 0 0 0.001368 0 10 137 CIC 23152 broad.mit.edu 37 19 42798383 42798383 + Silent SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:42798383C>A uc002otf.1 + 18 4294 c.4254C>A c.(4252-4254)TCC>TCA p.S1418S NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 1418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GAAGACGCTCCAGCTGCAGCT 0.617 NaN T DUX4 soft tissue sarcoma 1 0 2.24893e-16 0.009718 2.41676e-16 39 127 CD177 57126 broad.mit.edu 37 19 43864482 43864482 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:43864482G>A uc002owi.2 + 6 727 c.685G>A c.(685-687)GAT>AAT p.D229N CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 229 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) AGAACCCACTGATTGGACCAC 0.542 NaN 0 0 0 0.001168 0 5 29 PLAUR 5329 broad.mit.edu 37 19 44160637 44160637 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:44160637C>T uc002oxf.1 - 4 696 c.466G>A c.(466-468)GAA>AAA p.E156K PLAUR_uc002oxd.1_Missense_Mutation_p.E156K|PLAUR_uc002oxe.1_Missense_Mutation_p.E151K|PLAUR_uc002oxg.1_Missense_Mutation_p.E156K NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 156 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TCACCTTCTTCACCTTCCTGG 0.478 NaN 0 0 0 0.00874 0 37 295 ZNF221 7638 broad.mit.edu 37 19 44470216 44470216 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:44470216C>T uc002oxx.2 + 6 890 c.562C>T c.(562-564)CAT>TAT p.H188Y ZNF221_uc010ejb.1_Missense_Mutation_p.H188Y|ZNF221_uc010xws.1_Missense_Mutation_p.H188Y NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 188 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) CTTTGATCTTCATCAACAATC 0.408 NaN 0 0 0 0.009535 0 25 88 ZFP112 7771 broad.mit.edu 37 19 44832181 44832181 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:44832181G>A uc010ejj.2 - 5 2260 c.2147C>T c.(2146-2148)TCT>TTT p.S716F ZFP112_uc002ozc.3_Missense_Mutation_p.S710F|ZFP112_uc010xwy.1_Missense_Mutation_p.S733F|ZFP112_uc010xwz.1_Missense_Mutation_p.S715F NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 716 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TCTTTCTCCAGAATGGACACT 0.453 NaN 0 0 0 0.006214 0 7 44 CBLC 23624 broad.mit.edu 37 19 45287647 45287647 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:45287647G>A uc002ozs.2 + 5 969 c.906G>A c.(904-906)CAG>CAA p.Q302Q CBLC_uc010ejt.2_Intron NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Cas-Br-M (murine) ecotropic retroviral 302 SH2-like.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|skin(1) 6 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) TGGAGGGACAGAAGGACGGCT 0.483 NaN M AML OREG0025542 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 21 98 CLPTM1 1209 broad.mit.edu 37 19 45490661 45490661 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:45490661G>A uc002pai.2 + 8 1033 c.1018G>A c.(1018-1020)GAG>AAG p.E340K CLPTM1_uc010ejv.1_Missense_Mutation_p.E238K|CLPTM1_uc010xxf.1_Missense_Mutation_p.E238K|CLPTM1_uc010xxg.1_Missense_Mutation_p.E326K NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 340 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GCAGTCAGATGAGGAGCAGGA 0.632 NaN 0 0 0 0.004007 0 10 84 GPR4 2828 broad.mit.edu 37 19 46094942 46094942 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:46094942G>C uc002pcm.2 - 2 1128 c.183C>G c.(181-183)ATC>ATG p.I61M OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 61 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GCAGGTCGGCGATGCTGAGGT 0.647 NaN 0 0 0 0.003163 0 13 176 GPR4 2828 broad.mit.edu 37 19 46094948 46094948 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:46094948G>A uc002pcm.2 - 2 1122 c.177C>T c.(175-177)CTC>CTT p.L59L OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 59 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CGGCGATGCTGAGGTTCATCA 0.642 NaN 0 0 0 0.001368 0 9 175 GIPR 2696 broad.mit.edu 37 19 46174547 46174547 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:46174547C>T uc002pcu.1 + 4 276 c.177C>T c.(175-177)CTC>CTT p.L59L GIPR_uc002pct.1_Silent_p.L59L|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_RNA NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 59 Extracellular (Potential). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) CCCCAGGCCTCGCCTGTAACG 0.667 NaN 0 0 0 0.004656 0 24 185 EHD2 30846 broad.mit.edu 37 19 48244378 48244378 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:48244378G>A uc002phj.3 + 6 1571 c.1321G>A c.(1321-1323)GAG>AAG p.E441K EHD2_uc010xyu.1_Missense_Mutation_p.E305K|EHD2_uc010xyv.1_Missense_Mutation_p.E124K NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 441 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CTCGGACGACGAGGCCGAGTG 0.657 NaN 0 0 0 0.004007 0 12 89 PPFIA3 8541 broad.mit.edu 37 19 49652018 49652018 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:49652018G>A uc002pmr.2 + 25 3439 c.3107G>A c.(3106-3108)CGA>CAA p.R1036Q PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R895Q|PPFIA3_uc002pmt.2_Missense_Mutation_p.R175Q|PPFIA3_uc002pmu.1_Missense_Mutation_p.R85Q NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 1036 Potential. cell surface|cytoplasm protein binding lung(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;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ACCCAGATCCGAGGTGAGTAG 0.587 NaN 0 0 0 0.001168 0 5 45 CD37 951 broad.mit.edu 37 19 49840236 49840236 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:49840236C>T uc002pnd.2 + 3 334 c.213C>T c.(211-213)ATC>ATT p.I71I uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.I71I|CD37_uc010yan.1_Silent_p.I3I|CD37_uc002pnf.3_Silent_p.I43I|CD37_uc002pne.2_Silent_p.I3I NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 71 Helical; (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) CCATGGGCATCGCCCTCCTGG 0.617 NaN 0 0 0 0.00499 0 16 63 NUP62 23636 broad.mit.edu 37 19 50413062 50413062 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:50413062C>T uc002pqx.2 - 2 107 c.3G>A c.(1-3)ATG>ATA p.M1I IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.M1I|NUP62_uc002pqz.2_Missense_Mutation_p.M1I|NUP62_uc002pra.2_Missense_Mutation_p.M1I|NUP62_uc002prb.2_Missense_Mutation_p.M1I|NUP62_uc002prc.2_Missense_Mutation_p.M1I NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 1 15 X 9 AA approximate repeats.|1. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TAAACCCGCTCATGGCTCCGG 0.547 NaN 0 0 0 0.001368 0 7 58 ETFB 2109 broad.mit.edu 37 19 51848565 51848565 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:51848565G>A uc002pwh.2 - 6 760 c.668C>T c.(667-669)TCT>TTT p.S223F ETFB_uc002pwg.2_Missense_Mutation_p.S314F NM_001985 NP_001976 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 223 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) ACTGATCACAGAGAGCTTGGA 0.592 NaN 0 0 0 0.010729 0 11 88 ZNF808 388558 broad.mit.edu 37 19 53056414 53056414 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:53056414G>C uc010epq.1 + 5 422 c.245G>C c.(244-246)AGA>ACA p.R82T ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 82 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CAAGGCAATAGAGAAGTGATC 0.363 NaN 0 0 0 0.003954 0 23 163 ZNF600 162966 broad.mit.edu 37 19 53270485 53270485 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:53270485G>A uc002qab.3 - 3 810 c.524C>T c.(523-525)TCA>TTA p.S175L NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 175 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CCTTAAGAGTGAGCTACAATT 0.373 NaN 0 0 0 0.006122 0 15 74 ZNF160 90338 broad.mit.edu 37 19 53572607 53572607 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:53572607C>G uc010eqk.2 - 7 1596 c.1180G>C c.(1180-1182)GAG>CAG p.E394Q ZNF160_uc002qaq.3_Missense_Mutation_p.E394Q|ZNF160_uc002qar.3_Missense_Mutation_p.E394Q NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 394 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) TAAGGTTTCTCTCCAGTGTGA 0.398 NaN 0 0 0 0.001855 0 13 149 ZNF347 84671 broad.mit.edu 37 19 53643596 53643596 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:53643596C>G uc002qbb.1 - 5 2554 c.2485G>C c.(2485-2487)GAG>CAG p.E829Q ZNF347_uc010eql.1_Missense_Mutation_p.E830Q|ZNF347_uc002qbc.1_Missense_Mutation_p.E830Q NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 829 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) GGTTTGAACTCTGACTTTAGA 0.398 NaN 0 0 0 0.003755 0 29 112 MBOAT7 79143 broad.mit.edu 37 19 54692090 54692090 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:54692090G>A uc002qdq.2 - 4 453 c.187C>T c.(187-189)CTC>TTC p.L63F MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.L45F|MBOAT7_uc002qdr.2_Missense_Mutation_p.L63F|MBOAT7_uc002qds.2_Missense_Mutation_p.P32L|MBOAT7_uc010yen.1_Missense_Mutation_p.P32L|MBOAT7_uc002qdt.3_Missense_Mutation_p.L63F|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 63 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCTGAATGAGGGCCCAGGTC 0.602 NaN 0 0 0 0.001368 0 10 158 TTYH1 57348 broad.mit.edu 37 19 54942276 54942276 + Splice_Site SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:54942276G>A uc002qfq.2 + 10 1125 c.1033_splice c.e10-1 p.K345_splice TTYH1_uc010yey.1_Splice_Site_p.E375_splice|TTYH1_uc002qfr.2_Splice_Site_p.K345_splice|TTYH1_uc002qft.2_Splice_Site_p.K345_splice|TTYH1_uc002qfu.1_Splice_Site_p.K257_splice NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) TCGCCCCGCAGAAGCCTCTGC 0.403 NaN 0 0 0 0.008361 0 22 104 LILRB1 10859 broad.mit.edu 37 19 55143036 55143036 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:55143036C>G uc002qgj.2 + 5 496 c.156C>G c.(154-156)GGC>GGG p.G52G LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.G52G|LILRB1_uc002qgk.2_Silent_p.G52G|LILRB1_uc002qgm.2_Silent_p.G52G|LILRB1_uc010erq.2_Silent_p.G52G|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 52 Ig-like C2-type 1.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) GTCAGGGGGGCCAGGAGACCC 0.577 NaN HNSCC(37;0.09) 0 0 0 0.004672 0 3 113 KIR2DL1 3802 broad.mit.edu 37 19 55286739 55286739 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:55286739G>A uc002qhb.1 + 4 531 c.493G>A c.(493-495)GAG>AAG p.E165K KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.E165K NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 165 Extracellular (Potential).|Ig-like C2-type 2. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CAGGGAAGGGGAGGCCCATGA 0.612 NaN 0 0 0 0.00632 0 23 54 NLRP7 199713 broad.mit.edu 37 19 55452917 55452917 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:55452917C>T uc002qih.3 - 2 239 c.163G>A c.(163-165)GCA>ACA p.A55T NLRP7_uc002qig.3_Missense_Mutation_p.A55T|NLRP7_uc002qii.3_Missense_Mutation_p.A55T|NLRP7_uc010esk.2_Missense_Mutation_p.A55T|NLRP7_uc010esl.2_Missense_Mutation_p.A83T NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 55 DAPIN. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGAATTTCTGCCAGTTTCTTG 0.443 NaN 0 0 0 0.000602 0 3 70 NLRP7 199713 broad.mit.edu 37 19 55453052 55453052 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:55453052G>A uc002qih.3 - 2 104 c.28C>T c.(28-30)CTG>TTG p.L10L NLRP7_uc002qig.3_Silent_p.L10L|NLRP7_uc002qii.3_Silent_p.L10L|NLRP7_uc010esk.2_Silent_p.L10L|NLRP7_uc010esl.2_Silent_p.L38L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 10 DAPIN. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) AGGGTCTGCAGAGTCCACTCT 0.483 NaN 0 0 0 0.001984 0 5 36 SYT5 6861 broad.mit.edu 37 19 55686641 55686641 + Missense_Mutation SNP G G A rs141073446 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:55686641G>A uc002qjm.1 - 5 1667 c.607C>T c.(607-609)CGC>TGC p.R203C SYT5_uc002qjp.2_Missense_Mutation_p.R200C|SYT5_uc002qjn.1_Missense_Mutation_p.R203C|SYT5_uc002qjo.1_Missense_Mutation_p.R203C NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 203 Cytoplasmic (Potential).|C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GCGTCATTGCGAGAGAAGCGG 0.677 NaN 0 0 0 0.000602 0 3 41 NLRP11 204801 broad.mit.edu 37 19 56329303 56329303 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:56329303C>G uc010ygf.1 - 4 949 c.238G>C c.(238-240)GAT>CAT p.D80H NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 80 DAPIN. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTACAAAGATCTTCCTTACGC 0.463 NaN 0 0 0 0.004482 0 8 84 NLRP4 147945 broad.mit.edu 37 19 56382323 56382323 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:56382323G>A uc002qmd.3 + 7 2907 c.2485G>A c.(2485-2487)GAG>AAG p.E829K NLRP4_uc002qmf.2_Missense_Mutation_p.E754K|NLRP4_uc010etf.2_Missense_Mutation_p.E604K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 829 LRR 5. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AACTCTCTGCGAGGCCTTGAA 0.498 NaN 0 0 0 0.001368 0 9 86 GALP 85569 broad.mit.edu 37 19 56688513 56688513 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:56688513C>T uc002qmo.1 + 2 118 c.36C>T c.(34-36)CTC>CTT p.L12L GALP_uc010eti.2_Silent_p.L12L NM_033106 NP_149097 Q9UBC7 GALP_HUMAN galanin-like peptide isoform 1 precursor 12 neuropeptide signaling pathway extracellular region hormone activity 0 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) TCCTCCTCCTCGTCCTCTTGC 0.622 NaN 0 0 0 0.001168 0 5 49 ZNF582 147948 broad.mit.edu 37 19 56895501 56895501 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:56895501C>T uc002qmz.1 - 5 1444 c.1285G>A c.(1285-1287)GGG>AGG p.G429R ZNF582_uc002qmy.2_Missense_Mutation_p.G460R NM_144690 NP_653291 Q96NG8 ZN582_HUMAN zinc finger protein 582 429 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|large_intestine(1) 4 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) AAAGCCTTCCCACATTCCTTA 0.393 NaN 0 0 0 0.000602 0 5 49 USP29 57663 broad.mit.edu 37 19 57640824 57640824 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:57640824G>C uc002qny.2 + 4 1137 c.781G>C c.(781-783)GAG>CAG p.E261Q NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 261 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTGGAACCAGAGCACAGCCA 0.478 NaN 0 0 0 0.000602 0 4 74 USP29 57663 broad.mit.edu 37 19 57640872 57640872 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:57640872G>A uc002qny.2 + 4 1185 c.829G>A c.(829-831)GAC>AAC p.D277N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 277 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.D277E(1) lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTGCCTCTTGACTCTCATTC 0.473 NaN 0 0 0 0.000602 0 5 30 USP29 57663 broad.mit.edu 37 19 57641088 57641088 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:57641088G>A uc002qny.2 + 4 1401 c.1045G>A c.(1045-1047)GAA>AAA p.E349K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 349 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GATCAAGAGAGAATTACTTGG 0.378 NaN 0 0 0 0.001168 0 5 69 USP29 57663 broad.mit.edu 37 19 57641253 57641253 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:57641253G>A uc002qny.2 + 4 1566 c.1210G>A c.(1210-1212)GAA>AAA p.E404K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 404 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGTGGGGATGAAAATTCATC 0.393 NaN 0 0 0 0.001168 0 6 63 ZNF264 9422 broad.mit.edu 37 19 57723168 57723168 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:57723168G>C uc002qob.2 + 4 1116 c.703G>C c.(703-705)GAA>CAA p.E235Q NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 235 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TGAATGCACAGAATGTGGGAA 0.428 NaN 0 0 0 0.008291 0 9 77 ZNF530 348327 broad.mit.edu 37 19 58117277 58117277 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:58117277G>A uc002qpk.2 + 3 604 c.384G>A c.(382-384)TGG>TGA p.W128* ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAGATTTCTGGATGAGTTCAA 0.458 NaN 0 0 0 0.003163 0 14 35 ZNF606 80095 broad.mit.edu 37 19 58490857 58490857 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:58490857C>G uc002qqw.2 - 7 1809 c.1191G>C c.(1189-1191)GAG>GAC p.E397D ZNF606_uc010yhp.1_Missense_Mutation_p.E307D NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CATAGGGTTTCTCTGCAGTGT 0.378 NaN 0 0 0 0.001984 0 5 55 TRIM28 10155 broad.mit.edu 37 19 59059693 59059693 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:59059693G>A uc002qtg.1 + 8 1423 c.1134G>A c.(1132-1134)ATG>ATA p.M378I TRIM28_uc010eut.1_Missense_Mutation_p.M296I|TRIM28_uc002qth.1_Missense_Mutation_p.M1I NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 378 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CCCTCAAGATGATTGTGGATC 0.532 NaN 0 0 0 0.006214 0 8 102 TAF1B 9014 broad.mit.edu 37 2 10045054 10045054 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:10045054C>T uc002qzz.2 + 9 974 c.874C>T c.(874-876)CGT>TGT p.R292C TAF1B_uc010exc.2_Missense_Mutation_p.R292C|TAF1B_uc002qzy.3_Missense_Mutation_p.R292C|TAF1B_uc010yja.1_Missense_Mutation_p.R37C|TAF1B_uc010exd.2_Missense_Mutation_p.R37C NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 292 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGATTTGCCTCGTTTTCCAGA 0.378 NaN 0 0 0 0.001168 0 6 53 MYCN 4613 broad.mit.edu 37 2 16085691 16085691 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:16085691C>T uc002rci.2 + 3 1167 c.867C>T c.(865-867)TCC>TCT p.S289S MYCN_uc010yjr.1_Silent_p.S281S NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 289 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GTTCCTCCTCCAACACCAAGG 0.458 NaN A neuroblastoma 0 0 0 0.001368 0 12 73 NT5C1B 93034 broad.mit.edu 37 2 18745124 18745124 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:18745124C>T uc002rcz.2 - 10 1875 c.1771G>A c.(1771-1773)GAA>AAA p.E591K NT5C1B_uc002rcy.2_Missense_Mutation_p.E591K|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Missense_Mutation_p.E531K|NT5C1B_uc002rda.2_Missense_Mutation_p.E531K|NT5C1B_uc010yjv.1_Missense_Mutation_p.E608K|NT5C1B_uc010yjw.1_Missense_Mutation_p.E574K|NT5C1B_uc010exs.2_Missense_Mutation_p.E593K NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 591 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TGTGCCCCTTCAATGTGGAAC 0.468 NaN 0 0 0 0.001984 0 7 44 OTOF 9381 broad.mit.edu 37 2 26700125 26700125 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:26700125C>T uc002rhk.2 - 21 2565 c.2438G>A c.(2437-2439)CGG>CAG p.R813Q OTOF_uc002rhh.2_Missense_Mutation_p.R66Q|OTOF_uc002rhi.2_Missense_Mutation_p.R123Q|OTOF_uc002rhj.2_Missense_Mutation_p.R66Q NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 813 Cytoplasmic (Potential).|Potential. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTGGGCCCGCAGCATCCT 0.652 NaN 0 0 0 0.000602 0 5 29 EMILIN1 11117 broad.mit.edu 37 2 27308605 27308605 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:27308605C>T uc002rii.3 + 8 3201 c.2773C>T c.(2773-2775)CGG>TGG p.R925W EMILIN1_uc002rik.3_Missense_Mutation_p.R160W|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 925 C1q. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACTGGGCACCGGCACGAGAA 0.667 NaN 0 0 0 0.003163 0 14 124 GTF3C2 2976 broad.mit.edu 37 2 27550106 27550106 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:27550106G>T uc002rjv.1 - 19 2818 c.2455C>A c.(2455-2457)CAG>AAG p.Q819K MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.Q274K|GTF3C2_uc002rju.1_Missense_Mutation_p.Q830K|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q819K NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 819 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCCTCCTGCATGCGCAGC 0.507 NaN 1 0 0.00621372 0.006214 0.00633594 6 90 KRTCAP3 200634 broad.mit.edu 37 2 27666827 27666827 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:27666827G>A uc002rks.2 + 6 644 c.627G>A c.(625-627)ATG>ATA p.M209I KRTCAP3_uc010ylr.1_Missense_Mutation_p.M209I|KRTCAP3_uc002rkt.2_Missense_Mutation_p.M191I NM_173853 NP_776252 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 209 integral to membrane 0 Acute lymphoblastic leukemia(172;0.155) TAGAGGAAATGACAGAGCTTG 0.363 NaN 0 0 0 0.001984 0 5 45 XDH 7498 broad.mit.edu 37 2 31562480 31562480 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:31562480C>T uc002rnv.1 - 34 3728 c.3649G>A c.(3649-3651)GAG>AAG p.E1217K NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1217 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGGCTCCCCTCGGGGGAATAG 0.612 NaN 0 0 0 0.001984 0 6 58 XDH 7498 broad.mit.edu 37 2 31598300 31598300 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:31598300G>A uc002rnv.1 - 15 1627 c.1548C>T c.(1546-1548)TTC>TTT p.F516F NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 516 FFF -> LLL (in Ref. 3; AAA75287). purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGAACTTGAAGAAGAAGCTGA 0.597 NaN 0 0 0 0.00245 0 12 108 BIRC6 57448 broad.mit.edu 37 2 32640519 32640519 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:32640519G>A uc010ezu.2 + 10 2294 c.2160G>A c.(2158-2160)TTG>TTA p.L720L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 720 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTCAGTGCTTGAGGCTGCCAA 0.483 NaN 0 0 0 0.00308 0 7 20 CRIM1 51232 broad.mit.edu 37 2 36669853 36669853 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:36669853G>T uc002rpd.2 + 4 883 c.844G>T c.(844-846)GAT>TAT p.D282Y NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 282 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) ACTAACTGCAGATGGTTGCTG 0.468 NaN 1 0 6.12954e-19 0.004656 6.61439e-19 21 181 HEATR5B 54497 broad.mit.edu 37 2 37280645 37280645 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:37280645C>G uc002rpp.1 - 17 2601 c.2505G>C c.(2503-2505)AAG>AAC p.K835N NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 835 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) AAGTAAATACCTTTAGTGCAC 0.308 NaN 0 0 0 0.00308 0 7 44 GALM 130589 broad.mit.edu 37 2 38893390 38893390 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:38893390G>C uc002rqy.2 + 1 339 c.87G>C c.(85-87)TTG>TTC p.L29F NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 29 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) CAGACCTCTTGAGAGTGGACA 0.602 NaN 0 0 0 0.008291 0 9 81 ZFP36L2 678 broad.mit.edu 37 2 43452198 43452198 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:43452198C>G uc002rsv.3 - 2 1036 c.745G>C c.(745-747)GAG>CAG p.E249Q LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 249 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGCCGCGGCTCCCGCGGGAAG 0.617 NaN 0 0 0 0.009096 0 3 36 ABCG8 64241 broad.mit.edu 37 2 44102359 44102359 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:44102359G>A uc002rtq.2 + 11 1653 c.1563G>A c.(1561-1563)CTG>CTA p.L521L ABCG8_uc010yoa.1_Silent_p.L520L NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 521 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGCCAACCTGAGGCCAGGCC 0.622 NaN 0 0 0 0.003163 0 12 140 SPTBN1 6711 broad.mit.edu 37 2 54843421 54843421 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:54843421G>A uc002rxu.2 + 5 801 c.552G>A c.(550-552)CAG>CAA p.Q184Q SPTBN1_uc002rxv.1_Silent_p.Q184Q|SPTBN1_uc002rxx.2_Silent_p.Q171Q NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 184 CH 2.|Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TGTGGTGCCAGATGAAGACAG 0.433 NaN 0 0 0 0.006122 0 15 75 REL 5966 broad.mit.edu 37 2 61148963 61148963 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:61148963G>A uc002sam.1 + 11 1377 c.1153G>A c.(1153-1155)GAA>AAA p.E385K REL_uc002san.1_Missense_Mutation_p.E353K NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 385 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) AAGTCAAGCAGAATCCTACTA 0.453 NaN A Hodgkin Lymphoma 0 0 0 0.006214 0 9 82 XPO1 7514 broad.mit.edu 37 2 61721193 61721193 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:61721193C>T uc002sbj.2 - 12 1809 c.1081G>A c.(1081-1083)GAA>AAA p.E361K XPO1_uc010fcl.2_Missense_Mutation_p.E357K|XPO1_uc010ypn.1_Missense_Mutation_p.E357K|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_Missense_Mutation_p.E8K NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 361 HEAT 3.|Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with Ran and nuclear export complex formation. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TCAGTTTCTTCTACTTCAGAT 0.348 NaN 0 0 0 0.000602 0 4 36 B3GNT2 10678 broad.mit.edu 37 2 62450306 62450306 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:62450306G>C uc002sbs.2 + 2 1189 c.951G>C c.(949-951)CTG>CTC p.L317L NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 317 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) ACCTGGCCCTGAGGCTGTACC 0.522 NaN 0 0 0 0.004656 0 23 97 OTX1 5013 broad.mit.edu 37 2 63283012 63283012 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:63283012C>T uc002scd.2 + 5 874 c.626C>T c.(625-627)TCC>TTC p.S209F OTX1_uc010ypt.1_Missense_Mutation_p.S143F NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 209 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) ATGCAGCGCTCCGTAGCTGCA 0.682 NaN 0 0 0 0.00308 0 7 36 CEP68 23177 broad.mit.edu 37 2 65296855 65296855 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:65296855G>A uc002sdl.3 + 2 491 c.277G>A c.(277-279)GAG>AAG p.E93K CEP68_uc002sdj.2_Missense_Mutation_p.E93K|CEP68_uc010yqb.1_Missense_Mutation_p.E93K|CEP68_uc002sdk.3_Missense_Mutation_p.E93K|CEP68_uc010yqc.1_Missense_Mutation_p.E93K|CEP68_uc010yqd.1_Missense_Mutation_p.E93K NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 93 centrosome organization centrosome skin(1) 1 GCCCGTAGCTGAGAGGTCTGA 0.617 NaN 0 0 0 0.008291 0 9 80 PCYOX1 51449 broad.mit.edu 37 2 70485407 70485407 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:70485407C>T uc002sgn.3 + 1 177 c.111C>T c.(109-111)ATC>ATT p.I37I PCYOX1_uc010fdo.2_Intron|PCYOX1_uc010yqu.1_Silent_p.I37I NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 37 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 CAGATAAAATCGGTAGGCGAG 0.607 NaN 0 0 0 0.001168 0 4 17 NAGK 55577 broad.mit.edu 37 2 71302769 71302769 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:71302769G>A uc002shp.3 + 7 1070 c.664G>A c.(664-666)GAA>AAA p.E222K NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.E73K|NAGK_uc002shr.2_Missense_Mutation_p.E171K NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 222 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) GAAAATTGCAGAAGGTACTGG 0.493 NaN 0 0 0 0.001368 0 10 56 ALMS1 7840 broad.mit.edu 37 2 73799556 73799556 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:73799556C>T uc002sje.1 + 18 10666 c.10555C>T c.(10555-10557)CAT>TAT p.H3519Y ALMS1_uc002sjf.1_Missense_Mutation_p.H3475Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H2905Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H2905Y NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3517 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 CTTTCAGCATCATCCAGACAA 0.383 NaN 0 0 0 0.001984 0 6 19 MOBKL1B 55233 broad.mit.edu 37 2 74399752 74399752 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:74399752G>A uc002skh.3 - 2 336 c.142C>T c.(142-144)CCT>TCT p.P48S MOBKL1B_uc002ski.2_Missense_Mutation_p.P48S NM_018221 NP_060691 Q9H8S9 MOL1B_HUMAN Mob4B protein 48 hippo signaling cascade metal ion binding|protein binding 0 TCTCCCTCAGGCAACATAACA 0.373 NaN 0 0 0 0.006214 0 7 99 WDR54 84058 broad.mit.edu 37 2 74650498 74650498 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:74650498G>C uc002slb.2 + 4 398 c.338G>C c.(337-339)GGA>GCA p.G113A NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 113 0 CTGGACTCTGGAGATGCCTCC 0.552 NaN 0 0 0 0.00632 0 25 262 AUP1 550 broad.mit.edu 37 2 74756246 74756246 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:74756246C>T uc010yry.1 - 3 570 c.352G>A c.(352-354)GAG>AAG p.E118K DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Intron|AUP1_uc002smg.2_Intron|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Intron|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1; 118 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 CTCTCGGCCTCGCTCTCACTC 0.602 NaN 0 0 0 0.008291 0 8 51 POLR1A 25885 broad.mit.edu 37 2 86255054 86255054 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:86255054C>T uc002sqs.2 - 33 5395 c.5016G>A c.(5014-5016)ATG>ATA p.M1672I POLR1A_uc010ytb.1_Missense_Mutation_p.M1038I NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1672 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TTTCAAATGTCATCTGCTGTA 0.542 NaN 0 0 0 0.001368 0 11 95 ADRA2B 151 broad.mit.edu 37 2 96780656 96780656 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:96780656G>A uc002svi.2 - 3 1242 c.1242C>T c.(1240-1242)ATC>ATT p.I414I NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 414 Helical; Name=7; (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TGCAGTAGCCGATCCAGAAGA 0.582 NaN 0 0 0 0.004672 0 3 28 CIAO1 9391 broad.mit.edu 37 2 96932160 96932160 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:96932160G>A uc002svs.2 + 1 277 c.72G>A c.(70-72)TGG>TGA p.W24* TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank NM_004804 NP_004795 O76071 CIAO1_HUMAN WD repeat domain 39 24 WD 1. chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding 0 TCCTGGCCTGGAACCCCGCGG 0.741 NaN 0 0 0 0.004482 0 8 27 NPAS2 4862 broad.mit.edu 37 2 101554280 101554280 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:101554280C>T uc002tap.1 + 5 625 c.339C>T c.(337-339)ATC>ATT p.I113I NPAS2_uc010yvt.1_Silent_p.I178I NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 113 PAS 1. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 CTGACAGTATCACGCCTCTCC 0.453 NaN 0 0 0 0.00874 0 31 178 IL18RAP 8807 broad.mit.edu 37 2 103057804 103057804 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:103057804G>A uc002tbx.2 + 7 1247 c.763G>A c.(763-765)GAT>AAT p.D255N IL18RAP_uc010fiz.2_Missense_Mutation_p.D113N NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 255 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 AGATATTCTGGATCCTGTCGA 0.418 NaN 0 0 0 0.009096 0 3 63 BUB1 699 broad.mit.edu 37 2 111419343 111419343 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:111419343G>C uc002tgc.2 - 10 1145 c.1033C>G c.(1033-1035)CAG>GAG p.Q345E BUB1_uc010yxh.1_Missense_Mutation_p.Q325E|BUB1_uc010fkb.2_Missense_Mutation_p.Q345E|BUB1_uc002tgd.2_Missense_Mutation_p.Q345E NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 345 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGTGTCTGCTGATAGGTTACT 0.488 NaN 0 0 0 0.006214 0 7 95 SLC20A1 6574 broad.mit.edu 37 2 113417184 113417184 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:113417184C>G uc002tib.2 + 8 1898 c.1452C>G c.(1450-1452)GTC>GTG p.V484V SLC20A1_uc002tic.1_Silent_p.V296V NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 484 Cytoplasmic (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 ACATGAGTGTCAAGGCAGAGA 0.463 NaN 0 0 0 0.012213 0 26 135 IL1B 3553 broad.mit.edu 37 2 113593149 113593149 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:113593149C>T uc002tii.1 - 3 180 c.93G>A c.(91-93)CAG>CAA p.Q31Q IL1B_uc002tih.1_5'UTR NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 31 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) TTACCTTCATCTGTTTAGGGC 0.423 NaN 0 0 0 0.00308 0 6 61 EN1 2019 broad.mit.edu 37 2 119600619 119600619 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:119600619G>A uc002tlm.2 - 2 2090 c.1074C>T c.(1072-1074)ATC>ATT p.I358I NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 358 Homeobox. skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 TGGCTTTCTTGATCTTGGCGC 0.602 NaN 0 0 0 0.008291 0 10 62 EN1 2019 broad.mit.edu 37 2 119604494 119604494 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:119604494G>C uc002tlm.2 - 1 1266 c.250C>G c.(250-252)CAG>GAG p.Q84E NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 84 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 GCGAGATGCTGAggcggcggg 0.363 NaN 0 0 0 0.00308 0 5 32 DBI 1622 broad.mit.edu 37 2 120125785 120125785 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:120125785G>A uc002tlv.2 + 2 155 c.31G>A c.(31-33)GAG>AAG p.E11K C2orf76_uc002tls.2_5'Flank|C2orf76_uc010flf.1_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyh.1_Missense_Mutation_p.E28K|DBI_uc010yyi.1_Missense_Mutation_p.E28K|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.E53K|DBI_uc010yyl.1_Missense_Mutation_p.E28K|DBI_uc010yym.1_Missense_Mutation_p.E21K|DBI_uc010yyn.1_Missense_Mutation_p.E28K|DBI_uc002tlw.2_Missense_Mutation_p.E28K|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.E12K|DBI_uc010yyp.1_5'Flank NM_001079862 NP_001073331 P07108 ACBP_HUMAN diazepam binding inhibitor isoform 3 11 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding 0 GAAAGCTGCAGAGGAGGTTAG 0.502 NaN 0 0 0 0.003163 0 13 93 PTPN4 5775 broad.mit.edu 37 2 120684226 120684226 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:120684226G>A uc002tmf.1 + 13 1825 c.1054G>A c.(1054-1056)GAC>AAC p.D352N PTPN4_uc010flj.1_Missense_Mutation_p.D65N NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 352 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GGCAAATAAAGACAGGGTATT 0.284 NaN 0 0 0 0.001855 0 9 50 FAM123C 205147 broad.mit.edu 37 2 131520311 131520311 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:131520311C>G uc002trw.2 + 2 856 c.666C>G c.(664-666)CTC>CTG p.L222L FAM123C_uc010fmv.2_Silent_p.L222L|FAM123C_uc010fms.1_Silent_p.L222L|FAM123C_uc010fmt.1_Silent_p.L222L|FAM123C_uc010fmu.1_Silent_p.L222L NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 222 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) ACAGCGAGCTCCTGGCCGATG 0.677 NaN 0 0 0 0.004007 0 15 100 LRP1B 53353 broad.mit.edu 37 2 141093288 141093288 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:141093288C>T uc002tvj.1 - 78 12984 c.12012G>A c.(12010-12012)CTG>CTA p.L4004L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4004 Extracellular (Potential).|LDL-receptor class B 34. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGAGTACCTCAGACTGGTCC 0.458 NaN TSP Lung(27;0.18) 0 0 0 0.006214 0 8 33 MBD5 55777 broad.mit.edu 37 2 149270460 149270460 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:149270460G>A uc002twm.3 + 15 5423 c.4435G>A c.(4435-4437)GAC>AAC p.D1479N MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.D1479N|MBD5_uc002two.2_Missense_Mutation_p.D737N|MBD5_uc002twp.2_Missense_Mutation_p.D529N NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1479 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CCCACAGGGTGACAGACAAAT 0.408 NaN 0 0 0 0.001168 0 5 73 NEB 4703 broad.mit.edu 37 2 152362007 152362007 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:152362007C>G uc010fnx.2 - 137 18815 c.18624G>C c.(18622-18624)CAG>CAC p.Q6208H NEB_uc002txr.2_Missense_Mutation_p.Q2631H|RIF1_uc002txp.2_Intron|NEB_uc002txq.2_5'Flank|NEB_uc010zca.1_Missense_Mutation_p.Q39H|NEB_uc010zcb.1_Missense_Mutation_p.Q39H|NEB_uc002txt.3_Missense_Mutation_p.Q713H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6208 Nebulin 170. 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) TAATGTGCTTCTGCGTCTCCT 0.468 NaN 0 0 0 0.002299 0 20 116 STAM2 10254 broad.mit.edu 37 2 153003708 153003708 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:153003708C>T uc002tyc.3 - 5 765 c.415G>A c.(415-417)GAA>AAA p.E139K STAM2_uc010foa.1_Missense_Mutation_p.E139K|STAM2_uc002tyd.2_Missense_Mutation_p.E139K NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 139 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) GTAATTCCTTCTTCTTTCATA 0.358 NaN 0 0 0 0.000602 0 4 58 BAZ2B 29994 broad.mit.edu 37 2 160289391 160289391 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:160289391C>T uc002uao.2 - 9 2129 c.1777G>A c.(1777-1779)GGA>AGA p.G593R BAZ2B_uc002uap.2_Missense_Mutation_p.G591R|BAZ2B_uc002uas.1_Missense_Mutation_p.G530R|BAZ2B_uc002uaq.1_Missense_Mutation_p.G521R|BAZ2B_uc002uar.1_Missense_Mutation_p.G166R NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GAATCTGTTCCTCTGAATTGT 0.279 NaN 0 0 0 0.003163 0 16 82 LY75 4065 broad.mit.edu 37 2 160667045 160667045 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:160667045G>C uc002ubc.3 - 32 4760 c.4691C>G c.(4690-4692)TCA>TGA p.S1564* LY75_uc002ubb.3_Nonsense_Mutation_p.S1564*|LY75_uc010fos.2_Nonsense_Mutation_p.S1564* NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1564 Extracellular (Potential).|C-type lectin 10. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) ACCATGTTTTGAACACAATTT 0.254 NaN 0 0 0 0.006122 0 15 129 PLA2R1 22925 broad.mit.edu 37 2 160832638 160832638 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:160832638C>T uc002ube.1 - 17 2743 c.2536G>A c.(2536-2538)GAT>AAT p.D846N PLA2R1_uc010zcp.1_Missense_Mutation_p.D846N|PLA2R1_uc002ubf.2_Missense_Mutation_p.D846N NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 846 Extracellular (Potential).|C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 GTGAGAAGATCACTGTGCAGC 0.403 NaN 0 0 0 0.00308 0 7 61 PLA2R1 22925 broad.mit.edu 37 2 160869838 160869838 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:160869838G>A uc002ube.1 - 10 1807 c.1600C>T c.(1600-1602)CGA>TGA p.R534* PLA2R1_uc010zcp.1_Nonsense_Mutation_p.R534*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.R534* NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 534 Extracellular (Potential).|C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TCAAAGCTTCGAAGGACTGTG 0.368 NaN 0 0 0 0.001368 0 8 49 PLA2R1 22925 broad.mit.edu 37 2 160889477 160889477 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:160889477G>C uc002ube.1 - 4 1041 c.834C>G c.(832-834)TTC>TTG p.F278L PLA2R1_uc010zcp.1_Missense_Mutation_p.F278L|PLA2R1_uc002ubf.2_Missense_Mutation_p.F278L NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 278 Extracellular (Potential).|C-type lectin 1. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TACCCCTTATGAAATTTTCTT 0.358 NaN 0 0 0 0.004656 0 18 123 RBMS1 5937 broad.mit.edu 37 2 161141534 161141534 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:161141534C>T uc002ubo.2 - 8 1222 c.778G>A c.(778-780)GAC>AAC p.D260N RBMS1_uc002ubj.2_Missense_Mutation_p.D224N|RBMS1_uc002ubk.2_Missense_Mutation_p.D224N|RBMS1_uc002ubl.2_Missense_Mutation_p.D255N|RBMS1_uc002ubn.2_Missense_Mutation_p.D257N|RBMS1_uc002ubi.3_Missense_Mutation_p.D257N|RBMS1_uc002ubm.2_Missense_Mutation_p.D227N|RBMS1_uc002ubp.2_Missense_Mutation_p.D260N|RBMS1_uc010fox.2_Missense_Mutation_p.D260N NM_016836 NP_058520 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting 260 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding 0 GTAGTTGGGTCGTAAGTAAGT 0.323 NaN 0 0 0 0.010729 0 9 57 FIGN 55137 broad.mit.edu 37 2 164466154 164466154 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:164466154C>T uc002uck.1 - 3 2499 c.2188G>A c.(2188-2190)GAA>AAA p.E730K NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 730 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 AAAGCATTTTCAAAGTCTTGA 0.463 NaN 0 0 0 0.001984 0 6 52 TTC21B 79809 broad.mit.edu 37 2 166797590 166797590 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:166797590C>T uc002udk.2 - 6 790 c.657G>A c.(655-657)ATG>ATA p.M219I TTC21B_uc002udl.2_Missense_Mutation_p.M219I|uc002udm.1_Intron NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 219 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 GTTGTAATTTCATTTTCTTAA 0.403 NaN 0 0 0 0.000602 0 4 21 HOXD13 3239 broad.mit.edu 37 2 176958257 176958257 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:176958257C>T uc002ukf.1 + 1 726 c.639C>T c.(637-639)TTC>TTT p.F213F NM_000523 NP_000514 P35453 HXD13_HUMAN homeobox D13 213 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TGTCCACTTTCGGCTCCGGGG 0.617 NaN T NUP98 AML* 0 0 0 0.001855 0 10 142 HOXD4 3233 broad.mit.edu 37 2 177016457 177016457 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:177016457G>A uc002uks.2 + 1 345 c.96G>A c.(94-96)CAG>CAA p.Q32Q NM_014621 NP_055436 P09016 HXD4_HUMAN homeobox D4 32 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TAGGCGAGCAGGGCGCCGACT 0.627 NaN 0 0 0 0.008291 0 8 71 TTC30A 92104 broad.mit.edu 37 2 178482268 178482268 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:178482268C>G uc002ulo.2 - 1 1427 c.1162G>C c.(1162-1164)GAG>CAG p.E388Q NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 388 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CGAAGCTGCTCAGTCAGCATC 0.463 NaN 0 0 0 0.008871 0 18 129 TTC30A 92104 broad.mit.edu 37 2 178482343 178482343 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:178482343C>G uc002ulo.2 - 1 1352 c.1087G>C c.(1087-1089)GAT>CAT p.D363H NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 363 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ATCAGGGCATCTAAGAAGTCA 0.473 NaN 0 0 0 0.006122 0 16 99 TTN 7273 broad.mit.edu 37 2 179489391 179489391 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:179489391C>T uc010zfg.1 - 191 37136 c.36912G>A c.(36910-36912)CTG>CTA p.L12304L TTN_uc010zfh.1_Silent_p.L5999L|TTN_uc010zfi.1_Silent_p.L5932L|TTN_uc010zfj.1_Silent_p.L5807L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13231 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) CTTCACACTCCAGCACTGCAG 0.458 NaN 0 0 0 0.004672 0 3 13 TTN 7273 broad.mit.edu 37 2 179594559 179594559 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:179594559G>C uc010zfg.1 - 60 14913 c.14689C>G c.(14689-14691)CTA>GTA p.L4897V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1558V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5824 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) TTCCCGTCTAGATACCAAGAC 0.428 NaN 0 0 0 0.000602 0 4 27 GTF3C3 9330 broad.mit.edu 37 2 197664281 197664281 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:197664281C>G uc002uts.2 - 1 145 c.55G>C c.(55-57)GAG>CAG p.E19Q GTF3C3_uc010zgu.1_Missense_Mutation_p.E19Q|GTF3C3_uc002utu.2_Missense_Mutation_p.E19Q NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 19 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 TCGAACTCCTCAAAGGAGATT 0.527 NaN 0 0 0 0.012319 0 13 91 SF3B1 23451 broad.mit.edu 37 2 198263234 198263234 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:198263234C>T uc002uue.2 - 21 3133 c.3085G>A c.(3085-3087)GAA>AAA p.E1029K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1029 HEAT 8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTACTTTTTCATGTCTGTTC 0.343 NaN 0 0 0 0.002299 0 17 94 FZD7 8324 broad.mit.edu 37 2 202900897 202900897 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:202900897G>C uc002uyw.1 + 1 1588 c.1527G>C c.(1525-1527)AAG>AAC p.K509N NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 509 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 AGACGTGCAAGAGCTATGCCG 0.627 NaN OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 20 125 NBEAL1 65065 broad.mit.edu 37 2 204078320 204078320 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:204078320C>G uc002uzt.3 + 54 8260 c.7927C>G c.(7927-7929)CTT>GTT p.L2643V NBEAL1_uc002uzs.3_Missense_Mutation_p.L1284V|NBEAL1_uc002uzu.2_Missense_Mutation_p.L138V NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2643 binding ovary(1)|skin(1) 2 CAGCCATATTCTTGTAGGTTT 0.398 NaN 0 0 0 0.00874 0 30 115 INO80D 54891 broad.mit.edu 37 2 206870253 206870253 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:206870253C>G uc002vaz.3 - 11 2328 c.1923G>C c.(1921-1923)AAG>AAC p.K641N NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 641 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGTCTCCATTCTTCCCTGAGT 0.443 NaN 0 0 0 0.009096 0 4 21 SMARCAL1 50485 broad.mit.edu 37 2 217300156 217300156 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:217300156C>T uc002vgc.3 + 9 1911 c.1581C>T c.(1579-1581)GTC>GTT p.V527V SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.V527V|SMARCAL1_uc010fvg.2_Silent_p.V527V NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 527 Helicase ATP-binding. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TCAACATTGTCAGCTTTGACC 0.463 NaN Schimke_Immuno-Osseous_Dysplasia 0 0 0 0.001984 0 6 60 CCDC108 255101 broad.mit.edu 37 2 219896248 219896248 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:219896248C>T uc002vjl.1 - 7 862 c.778G>A c.(778-780)GAT>AAT p.D260N CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.D249N|CCDC108_uc010zkq.1_Missense_Mutation_p.D195N NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 260 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAGTCGTATCTCCCACAGCA 0.627 NaN 0 0 0 0.00361 0 39 328 ALPP 250 broad.mit.edu 37 2 233243989 233243989 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:233243989G>A uc002vsq.2 + 3 438 c.273G>A c.(271-273)CTG>CTA p.L91L ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 91 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) AGATACCCCTGGCCATGGACC 0.552 NaN 0 0 0 0.004482 0 7 54 GIGYF2 26058 broad.mit.edu 37 2 233599920 233599920 + Missense_Mutation SNP A A G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:233599920A>G uc002vti.3 + 5 350 c.13A>G c.(13-15)ACG>GCG p.T5A GIGYF2_uc002vte.2_RNA|GIGYF2_uc002vtf.2_RNA|GIGYF2_uc010zmj.1_Missense_Mutation_p.T5A|GIGYF2_uc002vtg.2_Missense_Mutation_p.T5A|GIGYF2_uc002vtj.3_Missense_Mutation_p.T5A|GIGYF2_uc002vtk.3_Missense_Mutation_p.T5A|GIGYF2_uc002vth.3_Missense_Mutation_p.T5A|GIGYF2_uc002vtl.2_RNA|GIGYF2_uc010zmk.1_RNA NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 5 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GGCAGCGGAAACGCAGACACT 0.333 NaN 0 0 0 0.001984 0 4 29 MLPH 79083 broad.mit.edu 37 2 238402155 238402155 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:238402155G>A uc002vwt.2 + 2 313 c.86G>A c.(85-87)CGA>CAA p.R29Q MLPH_uc002vws.2_Missense_Mutation_p.R29Q|MLPH_uc010fyt.1_Missense_Mutation_p.R29Q|MLPH_uc002vwu.2_Missense_Mutation_p.R29Q|MLPH_uc002vwv.2_Missense_Mutation_p.R29Q NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 29 RabBD. metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) TTTGACCTCCGAAGGAAAGAA 0.542 NaN 0 0 0 0.00499 0 16 99 GPC1 2817 broad.mit.edu 37 2 241398601 241398601 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:241398601C>T uc002vyw.3 + 2 542 c.321C>T c.(319-321)TTC>TTT p.F107F PP14571_uc002vyy.1_5'Flank NM_002081 NP_002072 P35052 GPC1_HUMAN glypican 1 precursor 107 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) TGCGCAGCTTCGATGGTGAGT 0.701 NaN 0 0 0 0.004482 0 7 28 GAL3ST2 64090 broad.mit.edu 37 2 242743447 242743447 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:242743447C>T uc002wcj.1 + 4 1194 c.1063C>T c.(1063-1065)CGG>TGG p.R355W NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 355 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTACAACCTCCGGCCGGGCCT 0.667 NaN 0 0 0 0.00308 0 5 11 SOX12 6666 broad.mit.edu 37 20 306825 306825 + Missense_Mutation SNP A A T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:306825A>T uc002wdh.2 + 1 587 c.257A>T c.(256-258)AAG>ATG p.K86M NM_006943 NP_008874 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 86 HMG box. cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding 0 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GACTCGGAGAAGATCCCGTTC 0.612 NaN 0 0 0 0.001168 0 4 37 ANGPT4 51378 broad.mit.edu 37 20 853663 853663 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:853663G>T uc002wei.2 - 9 1555 c.1452C>A c.(1450-1452)TTC>TTA p.F484L ANGPT4_uc010zpn.1_3'UTR NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 484 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 TGGGGCCCTTGAAGTAGTGCC 0.577 NaN 1 0 5.50884e-06 0.001368 5.7299e-06 9 99 UBOX5 22888 broad.mit.edu 37 20 3090835 3090835 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:3090835C>T uc002whw.2 - 5 1713 c.1543G>A c.(1543-1545)GAG>AAG p.E515K uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.E461K|UBOX5_uc002why.1_Silent_p.*513* NM_014948 NP_055763 O94941 RNF37_HUMAN U-box domain containing 5 isoform a 515 RING-type. nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 CGTTGCTTCTCACCCAGGCAG 0.607 NaN 0 0 0 0.008871 0 17 215 CENPB 1059 broad.mit.edu 37 20 3766965 3766965 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:3766965C>G uc002wjk.2 - 1 373 c.166G>C c.(166-168)GAG>CAG p.E56Q CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 56 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 TACTTGCGCTCCGACGCCAGG 0.642 NaN 0 0 0 0.008291 0 11 106 MCM8 84515 broad.mit.edu 37 20 5939338 5939338 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:5939338C>G uc002wmi.2 + 7 1132 c.755C>G c.(754-756)CCT>CGT p.P252R MCM8_uc002wmj.2_Missense_Mutation_p.P252R|MCM8_uc002wmk.2_Missense_Mutation_p.P252R|MCM8_uc002wml.2_Missense_Mutation_p.P252R|MCM8_uc010gbp.2_Missense_Mutation_p.P252R NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 252 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 CAGAGCTTTCCTCTTCCAGAT 0.388 NaN 0 0 0 0.001168 0 4 33 TMX4 56255 broad.mit.edu 37 20 7962990 7962990 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:7962990C>A uc002wmx.1 - 8 1091 c.958G>T c.(958-960)GGC>TGC p.G320C NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 320 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane 0 TCAGAGATGCCTTCTTCAGCC 0.562 NaN 1 0 2.23348e-06 0.004007 2.33059e-06 13 80 SEL1L2 80343 broad.mit.edu 37 20 13830926 13830926 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:13830926G>T uc010gcf.2 - 19 1940 c.1858C>A c.(1858-1860)CAA>AAA p.Q620K SEL1L2_uc002woq.3_Missense_Mutation_p.Q481K|SEL1L2_uc010zrl.1_Missense_Mutation_p.Q507K|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 620 Extracellular (Potential).|Sel1-like 11. integral to membrane binding ovary(2) 2 GGACTCGTTTGAGCAGCCATG 0.453 NaN 1 0 3.07112e-06 0.010729 3.20207e-06 10 74 KIF16B 55614 broad.mit.edu 37 20 16359787 16359787 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:16359787C>T uc002wpg.1 - 19 3018 c.2860G>A c.(2860-2862)GAA>AAA p.E954K KIF16B_uc002wpe.1_Missense_Mutation_p.E336K|KIF16B_uc002wpf.1_Missense_Mutation_p.E336K|KIF16B_uc010gch.1_Missense_Mutation_p.E954K|KIF16B_uc010gci.1_Missense_Mutation_p.E954K|KIF16B_uc010gcj.1_Missense_Mutation_p.E965K NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 954 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GCAAGCTGTTCTTCTTTTTCT 0.438 NaN 0 0 0 0.004482 0 6 80 KIF16B 55614 broad.mit.edu 37 20 16359856 16359856 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:16359856G>A uc002wpg.1 - 19 2949 c.2791C>T c.(2791-2793)CTT>TTT p.L931F KIF16B_uc002wpe.1_Missense_Mutation_p.L313F|KIF16B_uc002wpf.1_Missense_Mutation_p.L313F|KIF16B_uc010gch.1_Missense_Mutation_p.L931F|KIF16B_uc010gci.1_Missense_Mutation_p.L931F|KIF16B_uc010gcj.1_Missense_Mutation_p.L942F NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 931 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CCTCTGTCAAGAATTTCAAAT 0.433 NaN 0 0 0 0.009096 0 4 58 CSRP2BP 57325 broad.mit.edu 37 20 18167964 18167964 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:18167964C>T uc002wqj.2 + 11 2832 c.2210C>T c.(2209-2211)TCA>TTA p.S737L CSRP2BP_uc002wqk.2_Missense_Mutation_p.S609L|CSRP2BP_uc010zru.1_Missense_Mutation_p.S608L NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 737 N-acetyltransferase. histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 CTTCACGTCTCAGCAAGCAAC 0.403 NaN 0 0 0 0.006122 0 14 134 RALGAPA2 57186 broad.mit.edu 37 20 20621418 20621418 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:20621418G>A uc002wrz.2 - 6 620 c.477C>T c.(475-477)TTC>TTT p.F159F RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 159 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGACTGCTGGGAAACCAGGCA 0.498 NaN 0 0 0 0.004482 0 7 58 XRN2 22803 broad.mit.edu 37 20 21309207 21309207 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:21309207C>G uc002wsf.1 + 4 421 c.326C>G c.(325-327)GCT>GGT p.A109G XRN2_uc002wsg.1_Missense_Mutation_p.A33G|XRN2_uc010zsk.1_Missense_Mutation_p.A55G NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 109 A -> V (in Ref. 1; AAD55138/AAQ13577). cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 GCACCACGTGCTAAAATGAAC 0.383 NaN 0 0 0 0.004672 0 3 23 GINS1 9837 broad.mit.edu 37 20 25388508 25388508 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:25388508G>A uc002wuv.1 + 1 186 c.52G>A c.(52-54)GAA>AAA p.E18K GINS1_uc010zte.1_RNA NM_021067 NP_066545 Q14691 PSF1_HUMAN GINS complex subunit 1 18 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm ovary(1)|central_nervous_system(1) 2 TCGCGCGCCCGAAGGGCAACT 0.687 NaN 0 0 0 0.00245 0 9 53 XKR7 343702 broad.mit.edu 37 20 30585240 30585240 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:30585240G>A uc002wxe.2 + 3 1894 c.1720G>A c.(1720-1722)GAG>AAG p.E574K NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 574 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGAGCTGCTGGAGTATGAGAC 0.617 NaN 0 0 0 0.006214 0 9 90 HCK 3055 broad.mit.edu 37 20 30681792 30681792 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:30681792G>A uc002wxh.2 + 11 1390 c.1219G>A c.(1219-1221)GAG>AAG p.E407K HCK_uc010gdy.2_Missense_Mutation_p.E386K|HCK_uc002wxi.2_Missense_Mutation_p.E385K NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 407 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCGGGTCATTGAGGACAACGA 0.552 NaN 0 0 0 0.012319 0 17 213 ASXL1 171023 broad.mit.edu 37 20 31021257 31021257 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:31021257G>A uc002wxs.2 + 11 1682 c.1256G>A c.(1255-1257)AGA>AAA p.R419K ASXL1_uc010geb.2_Missense_Mutation_p.R310K NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 419 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CTCCGAACCAGAGCCAGAAGG 0.517 NaN F|N|Mis MDS|CMML 0 0 0 0.010729 0 10 110 C20orf185 359710 broad.mit.edu 37 20 31661410 31661410 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:31661410G>A uc002wym.1 + 15 1430 c.1430G>A c.(1429-1431)TGA>TAA p.*477* NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 477 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 GTGGCATCCTGAGGCTGAGAC 0.532 NaN 0 0 0 0.008871 0 16 187 ZNF341 84905 broad.mit.edu 37 20 32354821 32354821 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:32354821C>T uc002wzy.2 + 9 1407 c.1387C>T c.(1387-1389)CAC>TAC p.H463Y ZNF341_uc002wzx.2_Missense_Mutation_p.H456Y|ZNF341_uc010geq.2_Missense_Mutation_p.H373Y|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 463 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GCTCAAGTCTCACATGACCCA 0.562 NaN 0 0 0 0.00361 0 45 444 EDEM2 55741 broad.mit.edu 37 20 33722577 33722577 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:33722577C>G uc002xbo.2 - 6 766 c.666G>C c.(664-666)TTG>TTC p.L222F EDEM2_uc010zuv.1_Missense_Mutation_p.L181F|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.L185F|EDEM2_uc010zut.1_Missense_Mutation_p.L181F|EDEM2_uc002xbp.2_Missense_Mutation_p.L70F|EDEM2_uc002xbn.2_Missense_Mutation_p.L70F|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 222 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGAGGCGCATCAAAGCCACTC 0.577 NaN 0 0 0 0.008291 0 11 127 FAM83C 128876 broad.mit.edu 37 20 33875386 33875386 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:33875386G>C uc010zux.1 - 4 1314 c.1196C>G c.(1195-1197)TCA>TGA p.S399* EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 399 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTTAGGGTCTGACAGTTGGCG 0.627 NaN 0 0 0 0.000602 0 4 50 SPAG4 6676 broad.mit.edu 37 20 34203963 34203963 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:34203963C>G uc002xdb.1 + 1 155 c.38C>G c.(37-39)TCG>TGG p.S13W SPAG4_uc010zvi.1_5'UTR NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 13 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GCCTCGTCCTCGCGCAAGCAC 0.677 NaN 0 0 0 0.010729 0 9 85 CPNE1 8904 broad.mit.edu 37 20 34220496 34220496 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:34220496C>A uc002xdf.2 - 5 615 c.252G>T c.(250-252)AAG>AAT p.K84N CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Missense_Mutation_p.K89N|CPNE1_uc002xde.2_Missense_Mutation_p.K84N|CPNE1_uc002xdg.2_Missense_Mutation_p.K84N|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.K84N|CPNE1_uc002xdi.2_Missense_Mutation_p.K84N|CPNE1_uc002xdj.2_Missense_Mutation_p.K84N|CPNE1_uc002xdk.2_Missense_Mutation_p.K84N|CPNE1_uc002xdl.2_Missense_Mutation_p.K84N|CPNE1_uc002xdm.2_Missense_Mutation_p.K84N|CPNE1_uc010gfk.1_Missense_Mutation_p.K84N|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 84 C2 1. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) GCTCTGGCGTCTTGTTGTCTA 0.512 NaN 1 0 2.47316e-13 0.003271 2.63804e-13 26 188 PHF20 51230 broad.mit.edu 37 20 34459608 34459608 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:34459608C>T uc002xek.1 + 9 1250 c.1139C>T c.(1138-1140)TCA>TTA p.S380L PHF20_uc002xei.1_Missense_Mutation_p.S380L|PHF20_uc010gfo.1_Missense_Mutation_p.S380L|PHF20_uc002xej.1_Missense_Mutation_p.S264L NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 380 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) GGCCAGGTCTCATCTGCACTG 0.458 NaN 0 0 0 0.00623 0 31 209 RPRD1B 58490 broad.mit.edu 37 20 36662405 36662405 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:36662405C>G uc002xho.3 + 1 458 c.56C>G c.(55-57)TCT>TGT p.S19C KIAA0406_uc002xhl.2_5'Flank|KIAA0406_uc002xhm.2_5'Flank NM_021215 NP_067038 Q9NQG5 RPR1B_HUMAN Regulation of nuclear pre-mRNA domain containing 19 CID. pancreas(1) 1 CTGAGCAACTCTCAGCAGAGC 0.657 NaN 0 0 0 0.003954 0 25 160 SLC32A1 140679 broad.mit.edu 37 20 37353686 37353686 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:37353686G>A uc002xjc.2 + 1 582 c.319G>A c.(319-321)GAA>AAA p.E107K NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 107 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) AGGTGGTGGCGAATTCGGGGG 0.652 NaN 0 0 0 0.004656 0 18 185 CHD6 84181 broad.mit.edu 37 20 40079711 40079711 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:40079711C>T uc002xka.1 - 23 3736 c.3558G>A c.(3556-3558)GGG>GGA p.G1186G NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1186 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) TCGTCTTCTTCCCCTTCCTCC 0.517 NaN 0 0 0 0.00499 0 15 136 TTPAL 79183 broad.mit.edu 37 20 43113071 43113071 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:43113071G>A uc002xmc.1 + 4 664 c.540G>A c.(538-540)GTG>GTA p.V180V TTPAL_uc002xmd.1_Silent_p.V180V|TTPAL_uc010ggr.1_Intron NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 180 CRAL-TRIO. intracellular transporter activity breast(1) 1 AAACCCAGGTGAATGGAATTG 0.403 NaN 0 0 0 0.001984 0 6 89 SERINC3 10955 broad.mit.edu 37 20 43132467 43132467 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:43132467G>A uc002xme.2 - 8 1178 c.1044C>T c.(1042-1044)CTC>CTT p.L348L SERINC3_uc002xmf.1_Silent_p.L348L|SERINC3_uc010ggs.1_Silent_p.L341L|SERINC3_uc010zwp.1_Silent_p.L293L NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 348 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TAGAATACAAGAGGCAGAGAA 0.378 NaN 0 0 0 0.001168 0 4 61 STK4 6789 broad.mit.edu 37 20 43610474 43610474 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:43610474C>T uc002xnb.2 + 4 340 c.250C>T c.(250-252)CAT>TAT p.H84Y STK4_uc010ggx.2_Missense_Mutation_p.H84Y|STK4_uc010ggy.2_Missense_Mutation_p.H84Y|STK4_uc010ggw.1_Missense_Mutation_p.H84Y NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 84 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) CTCTAGCCCTCATGTAGTCAA 0.348 NaN 0 0 0 0.00308 0 7 43 MATN4 8785 broad.mit.edu 37 20 43933126 43933126 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:43933126C>T uc002xnn.2 - 3 572 c.385G>A c.(385-387)GAG>AAG p.E129K MATN4_uc002xno.2_Missense_Mutation_p.E129K|MATN4_uc002xnp.2_Missense_Mutation_p.E129K|MATN4_uc010zwr.1_Missense_Mutation_p.E77K|MATN4_uc002xnr.1_Missense_Mutation_p.E129K|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 129 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CGCGCGCCCTCGGCCACACTG 0.711 NaN 0 0 0 0.000602 0 4 17 PIGT 51604 broad.mit.edu 37 20 44053141 44053141 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:44053141C>G uc002xoh.1 + 11 1479 c.1406C>G c.(1405-1407)TCT>TGT p.S469C PIGT_uc002xoj.1_Missense_Mutation_p.S402C|PIGT_uc002xok.1_Missense_Mutation_p.S434C|PIGT_uc010zwu.1_Missense_Mutation_p.S207C|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Missense_Mutation_p.S207C|PIGT_uc010zww.1_Missense_Mutation_p.S413C|PIGT_uc010zwx.1_Missense_Mutation_p.S304C|PIGT_uc010zwy.1_Missense_Mutation_p.S367C|PIGT_uc010zwz.1_Missense_Mutation_p.S207C|PIGT_uc010zxa.1_Missense_Mutation_p.S307C|PIGT_uc002xol.1_Missense_Mutation_p.S258C|PIGT_uc010zxb.1_Missense_Mutation_p.S145C|PIGT_uc002xom.1_Missense_Mutation_p.S61C NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 469 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) TGTAGCCCATCTGTCCTCAGC 0.582 NaN 0 0 0 0.00632 0 23 136 SLC12A5 57468 broad.mit.edu 37 20 44671954 44671954 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:44671954C>T uc010zxl.1 + 9 1374 c.1298C>T c.(1297-1299)TCA>TTA p.S433L SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.S410L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 433 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TACTTCCCCTCAGTCACAGGT 0.517 NaN 0 0 0 0.00361 0 43 385 SLC12A5 57468 broad.mit.edu 37 20 44682304 44682304 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:44682304C>G uc010zxl.1 + 20 2780 c.2704C>G c.(2704-2706)CTG>GTG p.L902V SLC12A5_uc002xrb.2_Missense_Mutation_p.L879V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 902 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GACCACATTTCTGTATCATTT 0.552 NaN 0 0 0 0.008361 0 24 267 ELMO2 63916 broad.mit.edu 37 20 45012097 45012097 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:45012097C>T uc002xrt.1 - 10 924 c.714G>A c.(712-714)CTG>CTA p.L238L ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xru.1_Silent_p.L238L|ELMO2_uc010zxr.1_Silent_p.L238L|ELMO2_uc010zxs.1_Silent_p.L55L|ELMO2_uc002xrw.2_Silent_p.L55L|ELMO2_uc002xrx.1_Silent_p.L238L NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 238 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) GTGCATTAATCAGTGCAATGG 0.458 NaN 0 0 0 0.001368 0 10 104 ARFGEF2 10564 broad.mit.edu 37 20 47641868 47641868 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:47641868G>C uc002xtx.3 + 36 4926 c.4774G>C c.(4774-4776)GAT>CAT p.D1592H ARFGEF2_uc010zyf.1_Missense_Mutation_p.D885H NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1592 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GCTGGATGCAGATATCCACAT 0.478 NaN 0 0 0 0.009096 0 3 22 RNF114 55905 broad.mit.edu 37 20 48562721 48562721 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:48562721G>A uc002xux.2 + 4 483 c.447G>A c.(445-447)AAG>AAA p.K149K RNF114_uc010zyo.1_Silent_p.K149K|RNF114_uc002xuy.2_RNA NM_018683 NP_061153 Q9Y508 RN114_HUMAN zinc finger protein 313 149 cell differentiation|multicellular organismal development|spermatogenesis intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 GTCCTGAGAAGAACTTTGATC 0.368 NaN 0 0 0 0.010729 0 6 69 NFATC2 4773 broad.mit.edu 37 20 50051746 50051746 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:50051746G>A uc002xwd.2 - 8 2231 c.2011C>T c.(2011-2013)CAG>TAG p.Q671* NFATC2_uc002xwc.2_Nonsense_Mutation_p.Q671*|NFATC2_uc010zyv.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyw.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyx.1_Nonsense_Mutation_p.Q651*|NFATC2_uc010zyy.1_Nonsense_Mutation_p.Q452*|NFATC2_uc010zyz.1_Nonsense_Mutation_p.Q452*|NFATC2_uc002xwe.2_Nonsense_Mutation_p.Q651* NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 671 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GTAAAGTGCTGAGGCTGACTT 0.338 NaN 0 0 0 0.004656 0 18 175 TSHZ2 128553 broad.mit.edu 37 20 51873094 51873094 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:51873094G>C uc002xwo.2 + 2 4053 c.3097G>C c.(3097-3099)GAA>CAA p.E1033Q NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1033 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGACGTGGATGAAGAATAGCT 0.493 NaN 0 0 0 0.004656 0 20 249 CASS4 57091 broad.mit.edu 37 20 55033555 55033555 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:55033555C>T uc002xxp.2 + 7 2338 c.2113C>T c.(2113-2115)CAG>TAG p.Q705* CASS4_uc002xxr.2_Nonsense_Mutation_p.Q705*|CASS4_uc010zze.1_Nonsense_Mutation_p.Q651*|CASS4_uc010gio.2_Nonsense_Mutation_p.Q268* NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 705 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GATCATCACTCAGAGCAAGCT 0.597 NaN 0 0 0 0.010818 0 27 210 RAE1 8480 broad.mit.edu 37 20 55949817 55949817 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:55949817G>A uc002xyg.2 + 11 1321 c.980G>A c.(979-981)GGA>GAA p.G327E RAE1_uc010gis.1_Missense_Mutation_p.G280E|RAE1_uc010git.1_Missense_Mutation_p.G327E|RAE1_uc002xyh.2_Missense_Mutation_p.G327E|RAE1_uc002xyi.2_Missense_Mutation_p.G327E NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 327 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) AATCACAATGGAAACATATTT 0.433 NaN 0 0 0 0.001168 0 5 95 GNAS 2778 broad.mit.edu 37 20 57429312 57429312 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:57429312C>T uc002xzw.2 + 1 1277 c.992C>T c.(991-993)GCG>GTG p.A331V GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCCCCAATCGCGCTTGACGGC 0.647 NaN Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 0 0 0 0.004482 0 6 47 CDH4 1002 broad.mit.edu 37 20 60448856 60448856 + Missense_Mutation SNP G G A rs147810745 by1000genomes TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:60448856G>A uc002ybn.1 + 7 964 c.950G>A c.(949-951)CGG>CAG p.R317Q CDH4_uc002ybp.1_Missense_Mutation_p.R243Q NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 317 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GTGCGGTACCGGATCGTGACC 0.612 NaN 0 0 0 0.003755 0 31 295 GTPBP5 26164 broad.mit.edu 37 20 60768599 60768599 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:60768599C>T uc002yce.3 + 2 161 c.123C>T c.(121-123)CCC>CCT p.P41P GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Silent_p.P41P|GTPBP5_uc011aag.1_Silent_p.P41P NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 41 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) GGGCTTCTCCCAGGCTGCTCT 0.617 NaN 0 0 0 0.001368 0 12 81 SLCO4A1 28231 broad.mit.edu 37 20 61300307 61300307 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:61300307C>T uc002ydb.1 + 11 2107 c.1902C>T c.(1900-1902)TTC>TTT p.F634F SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Silent_p.F36F NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 634 Helical; Name=11; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CCATCGCCTTCGGCTGGGTGA 0.657 NaN OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 9 83 SLCO4A1 28231 broad.mit.edu 37 20 61303163 61303163 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:61303163C>T uc002ydb.1 + 12 2292 c.2087C>T c.(2086-2088)TCA>TTA p.S696L SLCO4A1_uc002ydc.1_Intron|SLCO4A1_uc002yde.1_Missense_Mutation_p.S98L NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 696 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TCGGAGTCTTCAGATGGCCTG 0.632 NaN 0 0 0 0.00499 0 17 118 DIDO1 11083 broad.mit.edu 37 20 61512150 61512150 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:61512150C>T uc002ydr.1 - 16 5422 c.5158G>A c.(5158-5160)GAG>AAG p.E1720K DIDO1_uc002yds.1_Missense_Mutation_p.E1720K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1720 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTGTCCCCCTCTGTTTCACCT 0.647 NaN 0 0 0 0.007291 0 20 241 RTEL1 51750 broad.mit.edu 37 20 62324221 62324221 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:62324221G>C uc002yfu.1 + 29 3059 c.2716G>C c.(2716-2718)GAG>CAG p.E906Q RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.E906Q|RTEL1_uc011abd.1_Missense_Mutation_p.E930Q|RTEL1_uc011abe.1_Missense_Mutation_p.E683Q|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.E151Q|TNFRSF6B_uc002yfy.2_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 906 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CGTGAAGCAGGAGTTGAGCCA 0.652 NaN 0 0 0 0.007413 0 18 193 ZBTB46 140685 broad.mit.edu 37 20 62421337 62421337 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:62421337C>T uc002ygv.1 - 2 975 c.774G>A c.(772-774)CAG>CAA p.Q258Q ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CACCAGCACTCTGCTCTGAGA 0.577 NaN 0 0 0 0.00245 0 11 85 SOX18 54345 broad.mit.edu 37 20 62680557 62680557 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:62680557G>C uc002yhs.2 - 1 423 c.313C>G c.(313-315)CAG>GAG p.Q105E NM_018419 NP_060889 P35713 SOX18_HUMAN SRY-box 18 105 HMG box. angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis nucleus transcription regulatory region DNA binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GGGTTCTGCTGAGCCAGCCGC 0.493 NaN 0 0 0 0.006122 0 13 148 PCMTD2 55251 broad.mit.edu 37 20 62891502 62891502 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr20:62891502C>G uc002yil.3 + 2 384 c.184C>G c.(184-186)CAC>GAC p.H62D PCMTD2_uc002yim.3_Missense_Mutation_p.H62D NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 62 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGGAAACATTCACCTCTCAGC 0.483 NaN 0 0 0 0.001368 0 12 107 N6AMT1 29104 broad.mit.edu 37 21 30257552 30257552 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:30257552G>A uc002ymo.1 - 1 142 c.116C>T c.(115-117)GCG>GTG p.A39V N6AMT1_uc002ymp.1_Missense_Mutation_p.A39V|N6AMT1_uc002ymq.1_RNA NM_013240 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 39 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity 0 TTCGGCAGCCGCTGCCTCCAG 0.667 NaN 0 0 0 0.011902 0 16 266 SFRS15 57466 broad.mit.edu 37 21 33057990 33057990 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:33057990G>C uc002ypd.2 - 17 2526 c.2100C>G c.(2098-2100)TTC>TTG p.F700L SFRS15_uc002ype.2_Missense_Mutation_p.F700L|SFRS15_uc010glu.2_Missense_Mutation_p.F685L|SFRS15_uc002ypf.1_Missense_Mutation_p.F374L NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 700 nucleus nucleotide binding|RNA binding 0 GAGGAGGCGTGAAAGCAGGCG 0.537 NaN 0 0 0 0.004007 0 13 93 IL10RB 3588 broad.mit.edu 37 21 34655402 34655402 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:34655402C>G uc002yrk.1 + 5 601 c.502C>G c.(502-504)CAA>GAA p.Q168E IL10RB_uc002yrh.1_Missense_Mutation_p.Q238E|IL10RB_uc002yri.1_Missense_Mutation_p.Q121E|IL10RB_uc002yrl.1_Missense_Mutation_p.Q170E NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 168 Fibronectin type-III.|Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 TTACTAGTTTCAAATTACTCC 0.398 NaN 0 0 0 0.00308 0 7 52 DOPEY2 9980 broad.mit.edu 37 21 37617864 37617864 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:37617864G>A uc002yvg.2 + 19 3665 c.3586G>A c.(3586-3588)GAG>AAG p.E1196K DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1196 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CTCCAGCGACGAGGAGGCGGA 0.617 NaN 0 0 0 0.007413 0 18 47 HLCS 3141 broad.mit.edu 37 21 38126565 38126565 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:38126565G>A uc010gnb.2 - 11 3364 c.2163C>T c.(2161-2163)ATC>ATT p.I721I HLCS_uc002yvs.2_Silent_p.I721I NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 721 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GTTTGGGGAGGATGAGGTTTC 0.577 NaN 0 0 0 0.001368 0 9 66 HLCS 3141 broad.mit.edu 37 21 38309074 38309074 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:38309074G>C uc010gnb.2 - 4 1872 c.671C>G c.(670-672)TCC>TGC p.S224C HLCS_uc002yvs.2_Missense_Mutation_p.S224C|HLCS_uc010gnc.1_Missense_Mutation_p.S371C NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 224 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TTCGGGAATGGACTCCCTGGT 0.522 NaN 0 0 0 0.003271 0 31 83 TTC3 7267 broad.mit.edu 37 21 38461129 38461129 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:38461129G>A uc002yvz.2 + 5 474 c.369G>A c.(367-369)AAG>AAA p.K123K TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.K123K|TTC3_uc002ywb.2_Silent_p.K123K|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.K123K NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 123 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TAAATTTGAAGAAACTACAAC 0.323 NaN 0 0 0 0.004482 0 7 36 DSCAM 1826 broad.mit.edu 37 21 41457556 41457556 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:41457556C>T uc002yyq.1 - 23 4557 c.4105G>A c.(4105-4107)GAA>AAA p.E1369K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1369 Extracellular (Potential).|Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AAAATAATTTCATCAGATCCC 0.378 NaN 0 0 0 0.010504 0 15 68 UMODL1 89766 broad.mit.edu 37 21 43557560 43557560 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:43557560C>A uc002zaf.1 + 22 3787 c.3787C>A c.(3787-3789)CAT>AAT p.H1263N UMODL1_uc002zad.1_Missense_Mutation_p.H1191N|UMODL1_uc002zae.1_Missense_Mutation_p.H1319N|UMODL1_uc002zag.1_Missense_Mutation_p.H1391N|UMODL1_uc002zal.1_Missense_Mutation_p.H213N|UMODL1_uc010gpa.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 1263 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGAGCCTCCTCATGCAGAAGC 0.607 NaN 1 0 1.59361e-14 0.006999 1.70546e-14 33 277 ABCG1 9619 broad.mit.edu 37 21 43704787 43704787 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:43704787C>T uc002zaq.2 + 7 958 c.852C>T c.(850-852)TTC>TTT p.F284F ABCG1_uc002zan.2_Silent_p.F286F|ABCG1_uc002zam.2_Silent_p.F262F|ABCG1_uc002zao.2_Silent_p.F281F|ABCG1_uc002zap.2_Silent_p.F284F|ABCG1_uc002zar.2_Silent_p.F295F|ABCG1_uc011aev.1_Silent_p.F295F|ABCG1_uc010gpb.1_5'Flank NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 284 Cytoplasmic (Potential).|ABC transporter. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) TCGAGCTGTTCGACCAGGTAC 0.612 NaN 0 0 0 0.00361 0 42 221 NDUFV3 4731 broad.mit.edu 37 21 44329053 44329053 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:44329053C>G uc002zcn.2 + 3 315 c.249C>G c.(247-249)ACC>ACG p.T83T NDUFV3_uc002zcm.2_Silent_p.T448T NM_001001503 NP_001001503 P56181 NDUV3_HUMAN NADH-ubiquinone oxidoreductase flavoprotein 3 83 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity ovary(2) 2 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) GCACGTACACCTTCTTAGACC 0.557 NaN 0 0 0 0.009535 0 28 360 RRP1B 23076 broad.mit.edu 37 21 45096216 45096216 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:45096216G>T uc002zdk.2 + 7 727 c.613G>T c.(613-615)GAC>TAC p.D205Y NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 205 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) GAAGACGAAGGAGTAAGTGAT 0.473 NaN 1 0 1.67942e-08 0.006122 1.77097e-08 12 121 RRP1B 23076 broad.mit.edu 37 21 45096684 45096684 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:45096684G>A uc002zdk.2 + 8 799 c.685G>A c.(685-687)GAA>AAA p.E229K NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 229 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) TTTTGTGCCTGAAGAGACGAT 0.502 NaN 0 0 0 0.008291 0 8 95 RRP1B 23076 broad.mit.edu 37 21 45096750 45096750 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:45096750G>C uc002zdk.2 + 8 865 c.751G>C c.(751-753)GAA>CAA p.E251Q NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 251 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) GGAGATACCTGAAAATGAGGT 0.453 NaN 0 0 0 0.00308 0 7 89 ITGB2 3689 broad.mit.edu 37 21 46321536 46321536 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:46321536G>A uc002zgd.2 - 5 656 c.612C>T c.(610-612)TTC>TTT p.F204F ITGB2_uc002zge.2_Silent_p.F204F|ITGB2_uc002zgf.3_Silent_p.F204F|ITGB2_uc011afl.1_Silent_p.F126F|ITGB2_uc010gpw.2_Silent_p.F147F|ITGB2_uc002zgg.2_Silent_p.F204F NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 204 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GCACGTGCCTGAAGGCAAACG 0.587 NaN 0 0 0 0.012319 0 18 181 COL18A1 80781 broad.mit.edu 37 21 46898256 46898256 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr21:46898256G>A uc011afs.1 + 8 2503 c.2482G>A c.(2482-2484)GAC>AAC p.D828N COL18A1_uc002zhg.2_Missense_Mutation_p.D413N|COL18A1_uc002zhi.2_Missense_Mutation_p.D593N NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 828 Triple-helical region 2 (COL2). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCCCGGTGAAGACGGAAAGCC 0.527 NaN OREG0026262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001168 0 5 73 BCL2L13 23786 broad.mit.edu 37 22 18209803 18209803 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:18209803G>A uc002zmw.2 + 7 1179 c.961G>A c.(961-963)GAG>AAG p.E321K BCL2L13_uc002zmx.2_Missense_Mutation_p.E159K|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.E159K|BCL2L13_uc011agk.1_Missense_Mutation_p.E197K|BCL2L13_uc010gqz.2_Missense_Mutation_p.E41K|BCL2L13_uc002zmz.2_Missense_Mutation_p.E159K|BCL2L13_uc002zna.2_Missense_Mutation_p.E41K NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 321 Glu-rich. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) GGGCATGGAAGAGGCTGCTGT 0.557 NaN 0 0 0 0.00308 0 5 36 MICAL3 57553 broad.mit.edu 37 22 18324667 18324667 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:18324667C>T uc002zng.3 - 20 3075 c.2722G>A c.(2722-2724)GAG>AAG p.E908K MICAL3_uc011agl.1_Missense_Mutation_p.E908K|MICAL3_uc002znh.2_Missense_Mutation_p.E908K|MICAL3_uc002znj.1_Missense_Mutation_p.E636K|MICAL3_uc002znk.1_Missense_Mutation_p.E908K|MICAL3_uc002znl.1_Missense_Mutation_p.E541K NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 908 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TCCGGTACCTCCTGCAGTGCC 0.682 NaN 0 0 0 0.009096 0 3 15 TRMT2A 27037 broad.mit.edu 37 22 20102529 20102529 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:20102529G>A uc002zrk.1 - 6 1179 c.964C>T c.(964-966)CGC>TGC p.R322C TRMT2A_uc002zrl.1_Missense_Mutation_p.R322C|TRMT2A_uc002zrm.1_Missense_Mutation_p.R144C|TRMT2A_uc002zrn.1_Missense_Mutation_p.R322C|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 322 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 TGGTGGCGGCGGCTGGTGCGC 0.652 NaN 0 0 0 0.004672 0 3 21 CRKL 1399 broad.mit.edu 37 22 21272303 21272303 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:21272303G>A uc002ztf.2 + 1 590 c.81G>A c.(79-81)CGG>CGA p.R27R CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 27 SH2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) CGCAGACCCGGCTCCAGGGCC 0.662 NaN 0 0 0 0.007413 0 15 64 TOP3B 8940 broad.mit.edu 37 22 22330076 22330076 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:22330076C>T uc002zvs.2 - 2 441 c.6G>A c.(4-6)AAG>AAA p.K2K TOP3B_uc010gtl.2_Silent_p.K2K|TOP3B_uc002zvt.3_Silent_p.K2K NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 2 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) TGAGCACAGTCTTCATTTTGT 0.493 NaN 0 0 0 0.000602 0 5 45 RTDR1 27156 broad.mit.edu 37 22 23482428 23482428 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:23482428G>C uc002zwt.2 - 2 338 c.180C>G c.(178-180)ATC>ATG p.I60M RTDR1_uc010gtv.1_Missense_Mutation_p.I60M NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 60 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TGGCCTTGTAGATACACTCGG 0.557 NaN 0 0 0 0.00308 0 6 53 SUSD2 56241 broad.mit.edu 37 22 24579478 24579478 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:24579478C>G uc002zzn.1 + 3 347 c.303C>G c.(301-303)ATC>ATG p.I101M NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 101 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 AGGACAGCATCCAGACCCTCG 0.627 NaN 0 0 0 0.007835 0 30 256 SUSD2 56241 broad.mit.edu 37 22 24579487 24579487 + Silent SNP C C A rs143350390 byFrequency TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:24579487C>A uc002zzn.1 + 3 356 c.312C>A c.(310-312)CTC>CTA p.L104L NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 104 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TCCAGACCCTCGGCCATGTGG 0.627 NaN 1 0 2.52637e-11 0.005524 2.68375e-11 30 264 SUSD2 56241 broad.mit.edu 37 22 24581693 24581693 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:24581693G>A uc002zzn.1 + 8 1179 c.1135G>A c.(1135-1137)GAC>AAC p.D379N NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 379 AMOP.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCTGACAGCTGACTCCAGCGG 0.687 NaN 0 0 0 0.001368 0 11 40 TPST2 8459 broad.mit.edu 37 22 26932283 26932283 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:26932283C>T uc003acv.2 - 3 1180 c.1012G>A c.(1012-1014)GAC>AAC p.D338N TPST2_uc003acw.2_Missense_Mutation_p.D338N|TPST2_uc003acx.2_Missense_Mutation_p.D338N NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 338 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 ACGAAGGGGTCAGGGTTGCCA 0.572 NaN 0 0 0 0.006214 0 7 73 GAS2L1 10634 broad.mit.edu 37 22 29706489 29706489 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:29706489G>A uc003afa.1 + 3 893 c.694G>A c.(694-696)GAG>AAG p.E232K GAS2L1_uc010gvm.1_Missense_Mutation_p.E232K|GAS2L1_uc003afb.1_Missense_Mutation_p.E232K|GAS2L1_uc003afc.1_Missense_Mutation_p.E232K|GAS2L1_uc003afd.1_Missense_Mutation_p.E232K|GAS2L1_uc003afe.1_Missense_Mutation_p.E232K NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 232 GAR. cell cycle arrest cytoplasm|cytoskeleton 0 CAAGGTCTCAGAGGGGAAGTA 0.647 NaN 0 0 0 0.00333 0 19 120 AP1B1 162 broad.mit.edu 37 22 29737585 29737585 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:29737585G>A uc003afj.2 - 13 1885 c.1701C>T c.(1699-1701)ATC>ATT p.I567I AP1B1_uc003afi.2_Silent_p.I567I|AP1B1_uc003afk.2_Silent_p.I567I|AP1B1_uc003afl.2_Silent_p.I567I|AP1B1_uc011ako.1_Silent_p.I120I NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 567 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CCAGCGTGCCGATGTAGCAGA 0.617 NaN 0 0 0 0.00278 0 17 109 SF3A1 10291 broad.mit.edu 37 22 30730592 30730592 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:30730592C>T uc003ahl.2 - 16 2505 c.2373G>A c.(2371-2373)AGG>AGA p.R791R NM_005877 NP_005868 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa isoform 1 791 Ubiquitin-like. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding ovary(3)|large_intestine(1)|pancreas(1) 5 TCTACTTCTTCCTCCCGCCTC 0.562 NaN 0 0 0 0.00333 0 20 158 TCN2 6948 broad.mit.edu 37 22 31019015 31019015 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:31019015C>T uc003aip.1 + 8 1325 c.1167C>T c.(1165-1167)GCC>GCT p.A389A TCN2_uc003aiq.1_Silent_p.A385A|TCN2_uc003air.1_Silent_p.A362A NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 389 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGAAAGCGGCCGGAGAAAGGG 0.562 NaN 0 0 0 0.010729 0 9 96 APOL4 80832 broad.mit.edu 37 22 36587672 36587672 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:36587672C>T uc003aox.2 - 6 732 c.507G>A c.(505-507)CTG>CTA p.L169L APOL4_uc003aow.2_Silent_p.L166L|APOL4_uc010gww.2_Silent_p.L11L NM_145660 NP_663693 Q9BPW4 APOL4_HUMAN apolipoprotein L4 isoform 2 precursor 169 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding 0 CAGTAATGCTCAGGCTCAGCC 0.562 NaN 0 0 0 0.000602 0 5 16 APOL2 23780 broad.mit.edu 37 22 36623580 36623580 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:36623580G>C uc003aoz.2 - 5 1220 c.884C>G c.(883-885)TCA>TGA p.S295* APOL2_uc011amm.1_Nonsense_Mutation_p.S407*|APOL2_uc003apa.2_Nonsense_Mutation_p.S295* NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 295 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 CAAGTGCTTTGACTCATATGC 0.562 NaN 0 0 0 0.00623 0 29 171 APOL2 23780 broad.mit.edu 37 22 36624083 36624084 + Missense_Mutation DNP AG AG TA TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:36624083_36624084AG>TA uc003aoz.2 - 5 716_717 c.380_381CT>TA c.(379-381)TCT>TTA p.S127L APOL2_uc011amm.1_Missense_Mutation_p.S239L|APOL2_uc003apa.2_Missense_Mutation_p.S127L NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 127 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 TCAGGATGCCAGAGGTAGTGCC 0.574 NaN 0 0 0 0.004672 0 14 57 APOL1 8542 broad.mit.edu 37 22 36661542 36661542 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:36661542G>C uc003apf.2 + 6 828 c.660G>C c.(658-660)TTG>TTC p.L220F APOL1_uc011amn.1_Missense_Mutation_p.L97F|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.L236F|APOL1_uc011amo.1_Missense_Mutation_p.L97F|APOL1_uc011amp.1_Missense_Mutation_p.L220F|APOL1_uc011amq.1_Missense_Mutation_p.L202F|APOL1_uc010gwx.2_Missense_Mutation_p.L97F NM_003661 NP_003652 O14791 APOL1_HUMAN apolipoprotein L1 isoform a precursor 220 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|ovary(1) 3 CAGCCGCTTTGACCGGGATTA 0.557 NaN 0 0 0 0.008871 0 18 126 MYH9 4627 broad.mit.edu 37 22 36698620 36698620 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:36698620G>A uc003apg.2 - 20 2724 c.2493C>T c.(2491-2493)TTC>TTT p.F831F MYH9_uc003aph.1_Silent_p.F695F NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 831 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GCACCTTGGTGAAGAGCCGCC 0.373 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.010818 0 23 127 APOBEC3B 9582 broad.mit.edu 37 22 39387537 39387537 + Silent SNP C C T rs144471703 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:39387537C>T uc003awo.1 + 6 978 c.924C>T c.(922-924)TTC>TTT p.F308F APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F283F|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 308 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding ovary(1) 1 Melanoma(58;0.04) TGCGCATCTTCGCTGCCCGCA 0.572 NaN 0 0 0 0.00623 0 32 173 EP300 2033 broad.mit.edu 37 22 41562613 41562613 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:41562613G>A uc003azl.3 + 23 4212 c.3817G>A c.(3817-3819)GAT>AAT p.D1273N NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1273 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 ATTCGTCTGTGATGGCTGTTT 0.254 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.009096 0 3 18 TCF20 6942 broad.mit.edu 37 22 42606365 42606365 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:42606365G>A uc003bcj.1 - 1 5081 c.4947C>T c.(4945-4947)ATC>ATT p.I1649I TCF20_uc003bck.1_Silent_p.I1649I|TCF20_uc003bnt.2_Silent_p.I1649I NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CAGCATTGATGATTGTACAAA 0.478 NaN 0 0 0 0.010771 0 34 146 CELSR1 9620 broad.mit.edu 37 22 46930976 46930976 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:46930976C>T uc003bhw.1 - 1 2092 c.2092G>A c.(2092-2094)GAG>AAG p.E698K NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 698 Extracellular (Potential).|Cadherin 5. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCCGCATCCTCATTCAGACGA 0.637 NaN 0 0 0 0.004482 0 8 45 SBF1 6305 broad.mit.edu 37 22 50893737 50893737 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:50893737G>C uc003blh.2 - 33 4665 c.4470C>G c.(4468-4470)TTC>TTG p.F1490L SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.F1128L NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1464 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CACGGTGGCTGAAGCGATGGC 0.642 NaN 0 0 0 0.003163 0 13 68 ADM2 79924 broad.mit.edu 37 22 50921131 50921131 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:50921131C>T uc003blj.2 + 2 511 c.246C>T c.(244-246)CTC>CTT p.L82L ADM2_uc011ary.1_Silent_p.L82L NM_024866 NP_079142 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 precursor 82 positive regulation of angiogenesis extracellular region hormone activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTCAGCCTCTCCGGGATGGTG 0.716 NaN 0 0 0 0.001984 0 6 34 CHKB 1120 broad.mit.edu 37 22 51017894 51017894 + Silent SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:51017894G>T uc003bms.2 - 10 1292 c.1074C>A c.(1072-1074)ATC>ATA p.I358I CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'UTR|CHKB-CPT1B_uc003bmt.1_Silent_p.I149I|CHKB-CPT1B_uc003bmu.2_Silent_p.I237I|CHKB_uc003bmv.2_Silent_p.I358I NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 358 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) ATGCCTGGAGGATGGACCACA 0.562 NaN 1 0 7.48243e-07 0.006214 7.82034e-07 6 45 ATG7 10533 broad.mit.edu 37 3 11404346 11404346 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:11404346G>A uc003bwc.2 + 15 1860 c.1743G>A c.(1741-1743)GTG>GTA p.V581V ATG7_uc003bwd.2_Silent_p.V581V|ATG7_uc011aum.1_Silent_p.V542V NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 581 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 GACTGGCCGTGATTGCAGGAG 0.488 NaN 0 0 0 0.004482 0 8 73 NUP210 23225 broad.mit.edu 37 3 13401905 13401905 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:13401905G>A uc003bxv.1 - 15 2102 c.2019C>T c.(2017-2019)CTC>CTT p.L673L NUP210_uc003bxx.2_Silent_p.L345L NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 673 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TGGACGGCTCGAGGATCCAAG 0.562 NaN 0 0 0 0.00623 0 37 40 SLC6A6 6533 broad.mit.edu 37 3 14509714 14509714 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:14509714G>A uc010heg.2 + 16 1381 c.1090G>A c.(1090-1092)GAG>AAG p.E364K SLC6A6_uc003byq.2_Missense_Mutation_p.E364K|SLC6A6_uc003byr.2_Intron NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 364 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 TGATGTGGCTGAGTCAGGTAC 0.547 NaN OREG0015421 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 25 COLQ 8292 broad.mit.edu 37 3 15512080 15512080 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:15512080C>T uc003bzx.2 - 11 806 c.680G>A c.(679-681)CGA>CAA p.R227Q COLQ_uc003bzv.2_Missense_Mutation_p.R217Q|COLQ_uc003bzz.2_Missense_Mutation_p.R218Q|COLQ_uc010heo.2_Missense_Mutation_p.R193Q|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.R86Q|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 227 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 TGTGGGTCCTCGGTGTCCTGC 0.552 NaN 0 0 0 0.009535 0 24 83 DPH3 285381 broad.mit.edu 37 3 16306335 16306335 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:16306335C>T uc003cau.2 - 1 162 c.49G>A c.(49-51)GAG>AAG p.E17K DPH3_uc003cat.3_5'Flank|DPH3_uc003cav.2_Missense_Mutation_p.E17K|OXNAD1_uc010her.1_5'Flank|OXNAD1_uc003caw.2_5'Flank|OXNAD1_uc003cax.2_5'Flank NM_206831 NP_996662 Q96FX2 DPH3_HUMAN zinc finger, CSL domain containing 2 isoform 1 17 DPH-type. negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding cytoplasm|nucleus metal ion binding|protein binding 0 TCCGAGTCCTCGTCATATTGG 0.582 NaN 0 0 0 0.000602 0 4 83 NGLY1 55768 broad.mit.edu 37 3 25805781 25805781 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:25805781G>A uc003cdl.2 - 3 376 c.268C>T c.(268-270)CCT>TCT p.P90S NGLY1_uc010hfg.2_Missense_Mutation_p.P90S|NGLY1_uc003cdm.2_Missense_Mutation_p.P90S|NGLY1_uc011awo.1_Missense_Mutation_p.P48S|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 90 PUB. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 GCTTTTTTAGGAAAGATGAGA 0.373 NaN 0 0 0 0.010729 0 10 92 NEK10 152110 broad.mit.edu 37 3 27333022 27333022 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:27333022C>T uc003cdt.1 - 18 1703 c.1429G>A c.(1429-1431)GAT>AAT p.D477N NEK10_uc003cds.1_5'UTR NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 477 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GCACTGATATCACGTACATAA 0.373 NaN 0 0 0 0.004482 0 7 36 FBXL2 25827 broad.mit.edu 37 3 33414612 33414612 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:33414612G>A uc003cfp.2 + 6 390 c.319G>A c.(319-321)GAA>AAA p.E107K FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Missense_Mutation_p.E23K|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 107 LRR 2. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity large_intestine(1) 1 CCGAAACATTGAACATTTGAA 0.423 NaN 0 0 0 0.00361 0 48 112 CLASP2 23122 broad.mit.edu 37 3 33558526 33558526 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:33558526C>T uc003cfu.2 - 34 4282 c.3928G>A c.(3928-3930)GAA>AAA p.E1310K CLASP2_uc003cfs.2_Missense_Mutation_p.E517K|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.E910K NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1319 ovary(3)|central_nervous_system(1) 4 TTGAAGTGTTCATCCCAAACA 0.363 NaN 0 0 0 0.00333 0 16 58 CSPG5 10675 broad.mit.edu 37 3 47619161 47619161 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:47619161C>T uc003crp.3 - 2 531 c.355G>A c.(355-357)GAT>AAT p.D119N CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.D119N|CSPG5_uc011bbb.1_5'UTR NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 119 Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCTGGGCATCGCCGCTGCCC 0.692 NaN 0 0 0 0.00361 0 50 88 MAP4 4134 broad.mit.edu 37 3 47958225 47958225 + Silent SNP T T C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:47958225T>C uc003csb.2 - 7 1618 c.1092A>G c.(1090-1092)TTA>TTG p.L364L MAP4_uc003csc.3_Silent_p.L364L|MAP4_uc011bbf.1_Silent_p.L341L|MAP4_uc003csf.3_Silent_p.L381L NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 364 26 residues 1.|17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGGGCTAAGTCCATTT 0.478 NaN 0 0 0 0.004672 0 3 119 IP6K2 51447 broad.mit.edu 37 3 48726994 48726994 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:48726994C>T uc003cup.2 - 5 1001 c.757G>A c.(757-759)GGT>AGT p.G253S IP6K2_uc003cuq.2_Missense_Mutation_p.G253S NM_001005909 NP_001005909 Q9UHH9 IP6K2_HUMAN inositol hexaphosphate kinase 2 isoform a 253 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 ACACGCACACCAATGACTGCA 0.547 NaN 0 0 0 0.003271 0 25 125 P4HTM 54681 broad.mit.edu 37 3 49039971 49039971 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:49039971G>A uc003cvg.2 + 4 1015 c.666G>A c.(664-666)ATG>ATA p.M222I P4HTM_uc003cvh.2_Missense_Mutation_p.M222I|P4HTM_uc010hkm.1_Missense_Mutation_p.M108I NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 222 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GATGGTGGATGACTCCAGAGA 0.577 NaN 0 0 0 0.00361 0 66 222 SEMA3F 6405 broad.mit.edu 37 3 50214234 50214234 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:50214234G>A uc003cyj.2 + 7 781 c.583G>A c.(583-585)GAG>AAG p.E195K SEMA3F_uc003cyk.2_Missense_Mutation_p.E164K NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 195 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TGAGCGACTCGAGTCAGGGAA 0.597 NaN 0 0 0 0.004656 0 19 263 HYAL3 8372 broad.mit.edu 37 3 50331093 50331093 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:50331093G>C uc003czd.1 - 3 1227 c.954C>G c.(952-954)CTC>CTG p.L318L HYAL3_uc003czc.1_Intron|HYAL3_uc003cze.1_Silent_p.L69L|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 318 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGTCCCCCCAGAGCACCACGC 0.632 NaN 0 0 0 0.00361 0 56 169 STAB1 23166 broad.mit.edu 37 3 52557550 52557550 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:52557550C>T uc003dej.2 + 65 7322 c.7248C>T c.(7246-7248)ATC>ATT p.I2416I STAB1_uc003dek.1_Silent_p.I431I|STAB1_uc003del.2_Silent_p.I303I NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2416 Extracellular (Potential).|FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCAGCCTCATCATCAGTGACG 0.647 NaN 0 0 0 0.010504 0 17 57 CACNA1D 776 broad.mit.edu 37 3 53844150 53844150 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:53844150C>G uc003dgv.3 + 47 6180 c.6017C>G c.(6016-6018)TCA>TGA p.S2006* CACNA1D_uc003dgu.3_Nonsense_Mutation_p.S2026*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.S1982*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.S1673*|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 2006 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTGGAGCAGTCAGAGGCCCTG 0.657 NaN 0 0 0 0.001984 0 6 83 C3orf63 23272 broad.mit.edu 37 3 56657229 56657229 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:56657229G>C uc003did.3 - 23 4767 c.4666C>G c.(4666-4668)CAG>GAG p.Q1556E C3orf63_uc003dib.3_Missense_Mutation_p.Q675E|C3orf63_uc003dic.3_Missense_Mutation_p.Q1180E|C3orf63_uc003die.3_3'UTR NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1617 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) AAAAATGTCTGATGAGTGAGA 0.333 NaN 0 0 0 0.001984 0 6 46 CADM2 253559 broad.mit.edu 37 3 85961684 85961684 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:85961684G>C uc003dqj.2 + 5 1290 c.664G>C c.(664-666)GAA>CAA p.E222Q CADM2_uc003dqk.2_Missense_Mutation_p.E231Q|CADM2_uc003dql.2_Missense_Mutation_p.E224Q NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 222 Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GCAGGTGCTAGAAATACACTG 0.468 NaN 0 0 0 0.004482 0 7 60 OR5K4 403278 broad.mit.edu 37 3 98073347 98073347 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:98073347C>G uc011bgv.1 + 1 650 c.650C>G c.(649-651)TCT>TGT p.S217C NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GTCTTGATCTCTTATCTCTGC 0.353 NaN 0 0 0 0.004672 0 3 22 FAM55C 91775 broad.mit.edu 37 3 101520284 101520284 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:101520284G>A uc003dvn.2 + 5 936 c.299G>A c.(298-300)AGC>AAC p.S100N FAM55C_uc010hpn.2_Missense_Mutation_p.S100N NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 100 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TTTGTGAAGAGCACTGACCCT 0.557 NaN 0 0 0 0.001855 0 11 73 PHLDB2 90102 broad.mit.edu 37 3 111603754 111603754 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:111603754C>G uc010hqa.2 + 2 1241 c.830C>G c.(829-831)TCT>TGT p.S277C PHLDB2_uc003dyc.2_Missense_Mutation_p.S304C|PHLDB2_uc003dyd.2_Missense_Mutation_p.S277C|PHLDB2_uc003dyg.2_Missense_Mutation_p.S277C|PHLDB2_uc003dyh.2_Missense_Mutation_p.S277C|PHLDB2_uc003dye.3_Missense_Mutation_p.S277C|PHLDB2_uc003dyf.3_Missense_Mutation_p.S277C NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 277 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CCAAGAAACTCTCTGGGCAAT 0.473 NaN 0 0 0 0.006214 0 8 21 WDR52 55779 broad.mit.edu 37 3 113128161 113128161 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:113128161C>T uc003eae.1 - 7 728 c.682G>A c.(682-684)GAG>AAG p.E228K NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 228 WD 1. central_nervous_system(1) 1 TATCCCTTCTCAGTCCCATCT 0.398 NaN 0 0 0 0.001984 0 5 33 LSAMP 4045 broad.mit.edu 37 3 115560818 115560818 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:115560818C>G uc003ebt.2 - 6 1293 c.793G>C c.(793-795)GAG>CAG p.E265Q LSAMP_uc011bis.1_Missense_Mutation_p.E265Q NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 265 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CTCTTAATCTCAAGGCCATTG 0.483 NaN 0 0 0 0.00308 0 6 51 FSTL1 11167 broad.mit.edu 37 3 120128498 120128498 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:120128498G>A uc003eds.2 - 6 518 c.343C>T c.(343-345)CAG>TAG p.Q115* FSTL1_uc011bjh.1_Nonsense_Mutation_p.Q80* NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 115 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) CGGTTGGACTGATAGCAAACA 0.542 NaN 0 0 0 0.006122 0 13 52 HSPBAP1 79663 broad.mit.edu 37 3 122459618 122459618 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:122459618C>T uc003efu.1 - 8 1164 c.1041G>A c.(1039-1041)CTG>CTA p.L347L HSPBAP1_uc003eft.1_Silent_p.L58L NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 347 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) CATCTGTTCTCAGTGCTTGGA 0.448 NaN 0 0 0 0.00278 0 21 152 SEMA5B 54437 broad.mit.edu 37 3 122667551 122667551 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:122667551G>A uc003efz.1 - 3 434 c.130C>T c.(130-132)CTC>TTC p.L44F SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.L44F|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 44 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) AGACAGGGGAGAAGACCTGCA 0.592 NaN 0 0 0 0.001168 0 5 46 ADCY5 111 broad.mit.edu 37 3 123014973 123014973 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:123014973C>T uc003egh.1 - 17 3021 c.3021G>A c.(3019-3021)CAG>CAA p.Q1007Q ADCY5_uc003egg.1_Silent_p.Q665Q NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 1007 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) TGGACTCCACCTGCTGGGCGT 0.632 NaN 0 0 0 0.00278 0 19 126 KALRN 8997 broad.mit.edu 37 3 124181431 124181431 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:124181431G>C uc003ehg.2 + 25 4103 c.3976G>C c.(3976-3978)GAG>CAG p.E1326Q KALRN_uc010hrv.1_Missense_Mutation_p.E1317Q|KALRN_uc003ehf.1_Missense_Mutation_p.E1326Q|KALRN_uc011bjy.1_Missense_Mutation_p.E1317Q|KALRN_uc003ehh.1_Missense_Mutation_p.E672Q NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1326 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CCTCAATAAAGAGCATATCAT 0.473 NaN 0 0 0 0.004482 0 5 42 KALRN 8997 broad.mit.edu 37 3 124211637 124211637 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:124211637G>A uc003ehg.2 + 32 4861 c.4734G>A c.(4732-4734)GTG>GTA p.V1578V KALRN_uc010hrv.1_Silent_p.V1569V|KALRN_uc003ehf.1_Silent_p.V1578V|KALRN_uc011bjy.1_Silent_p.V1569V NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1578 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TTCGAGAAGTGATTCAAGAAA 0.468 NaN 0 0 0 0.004482 0 7 87 UMPS 7372 broad.mit.edu 37 3 124456651 124456651 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:124456651C>T uc003ehl.3 + 3 653 c.547C>T c.(547-549)CTC>TTC p.L183F UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Intron|UMPS_uc011bkb.1_Missense_Mutation_p.L91F|UMPS_uc011bkc.1_Missense_Mutation_p.L5F|UMPS_uc003ehn.3_Missense_Mutation_p.L5F|UMPS_uc011bkd.1_Missense_Mutation_p.L5F NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 183 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) GCTGGAGATTCTCGAGCAGCA 0.498 NaN 0 0 0 0.006214 0 7 33 UMPS 7372 broad.mit.edu 37 3 124456779 124456779 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:124456779C>G uc003ehl.3 + 3 781 c.675C>G c.(673-675)CTC>CTG p.L225L UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.L47L|UMPS_uc011bkb.1_Silent_p.L133L|UMPS_uc011bkc.1_Silent_p.L47L|UMPS_uc003ehn.3_Silent_p.L47L|UMPS_uc011bkd.1_Silent_p.L47L NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 225 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) CCAAAGAACTCAGCTTCGGTG 0.483 NaN 0 0 0 0.000602 0 4 32 UMPS 7372 broad.mit.edu 37 3 124456864 124456864 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:124456864C>T uc003ehl.3 + 3 866 c.760C>T c.(760-762)CTG>TTG p.L254L UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.L76L|UMPS_uc011bkb.1_Silent_p.L162L|UMPS_uc011bkc.1_Silent_p.L76L|UMPS_uc003ehn.3_Silent_p.L76L|UMPS_uc011bkd.1_Silent_p.L76L NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 254 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) GGAGACCAATCTGTGTCTATC 0.488 NaN 0 0 0 0.001368 0 9 74 CCDC37 348807 broad.mit.edu 37 3 126135240 126135240 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:126135240C>T uc003eiu.1 + 5 406 c.307C>T c.(307-309)CGG>TGG p.R103W CCDC37_uc010hsg.1_Missense_Mutation_p.R103W NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 103 Potential. ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) CACCAGCCTGCGGCGGCAGCT 0.662 NaN 0 0 0 0.006214 0 7 68 ZXDC 79364 broad.mit.edu 37 3 126193835 126193835 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:126193835C>G uc003eiv.2 - 1 928 c.874G>C c.(874-876)GAG>CAG p.E292Q ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.E292Q NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 292 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) CGCTCGGGCTCGAAGTGGCTG 0.687 NaN 0 0 0 0.004672 0 2 11 COPG 22820 broad.mit.edu 37 3 128991687 128991687 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:128991687C>G uc003els.2 + 21 2296 c.2196C>G c.(2194-2196)GTC>GTG p.V732V COPG_uc010htb.2_Silent_p.V638V NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 732 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 AGTTCACTGTCAAGGACTGTG 0.547 NaN 0 0 0 0.00245 0 11 67 DNAJC13 23317 broad.mit.edu 37 3 132215491 132215491 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:132215491C>T uc003eor.2 + 36 4205 c.4140C>T c.(4138-4140)TTC>TTT p.F1380F NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1380 heat shock protein binding ovary(1)|breast(1) 2 GCATCCTCTTCAACCGTCATA 0.338 NaN 0 0 0 0.001168 0 5 27 EPHB1 2047 broad.mit.edu 37 3 134873013 134873013 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:134873013C>G uc003eqt.2 + 6 1537 c.1317C>G c.(1315-1317)ATC>ATG p.I439M EPHB1_uc003equ.2_Translation_Start_Site NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 439 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CCGTTCCCATCATGCACCAAG 0.537 NaN 0 0 0 0.00874 0 34 278 TMEM22 80723 broad.mit.edu 37 3 136574265 136574265 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:136574265C>G uc003erf.3 + 2 1177 c.963C>G c.(961-963)CTC>CTG p.L321L TMEM22_uc003erg.3_Silent_p.L321L|TMEM22_uc010hub.2_Silent_p.L321L NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 321 DUF6 2.|Helical; (Potential). Golgi apparatus|integral to membrane ovary(1) 1 GGAGTTATCTCATTGCTATAT 0.388 NaN 0 0 0 0.003954 0 22 208 DZIP1L 199221 broad.mit.edu 37 3 137790534 137790534 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:137790534C>T uc003erq.2 - 12 1929 c.1566G>A c.(1564-1566)GAG>GAA p.E522E DZIP1L_uc003err.1_Silent_p.E522E NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 522 intracellular zinc ion binding ovary(1)|pancreas(1) 2 TCTCCTGTCTCTCCTTCGCTC 0.582 NaN 0 0 0 0.003163 0 12 96 PRR23A 729627 broad.mit.edu 37 3 138724388 138724388 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:138724388C>T uc011bms.1 - 1 723 c.723G>A c.(721-723)GGG>GGA p.G241G NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 241 Pro-rich. 0 GACCTGGACTCCCCACGCGCG 0.652 NaN 0 0 0 0.004672 0 2 1 HLTF 6596 broad.mit.edu 37 3 148773120 148773120 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:148773120G>C uc003ewq.1 - 14 1661 c.1443C>G c.(1441-1443)ATC>ATG p.I481M HLTF_uc003ewr.1_Missense_Mutation_p.I481M|HLTF_uc003ews.1_Missense_Mutation_p.I480M|HLTF_uc010hve.1_Missense_Mutation_p.I480M NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 481 Helicase ATP-binding. chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AAAGCGGACAGATGATCAGTG 0.363 NaN 0 0 0 0.00245 0 10 62 CLRN1 7401 broad.mit.edu 37 3 150659542 150659542 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:150659542G>A uc003eyk.1 - 2 551 c.260C>T c.(259-261)CCA>CTA p.P87L CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.P11L|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 87 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GAGCAAATCTGGAAAAACTGA 0.368 NaN 0 0 0 0.009096 0 3 21 MED12L 116931 broad.mit.edu 37 3 150903167 150903167 + Silent SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:150903167G>T uc003eyp.2 + 11 1583 c.1545G>T c.(1543-1545)GTG>GTT p.V515V MED12L_uc011bnz.1_Silent_p.V375V|MED12L_uc003eyn.2_Silent_p.V515V|MED12L_uc003eyo.2_Silent_p.V515V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 515 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATGGGCCGTGAGCTGCAAAC 0.517 NaN 1 0 2.27111e-07 0.001368 2.37751e-07 10 96 IGSF10 285313 broad.mit.edu 37 3 151155890 151155890 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:151155890G>A uc011bod.1 - 6 6459 c.6459C>T c.(6457-6459)ATC>ATT p.I2153I IGSF10_uc011bob.1_Silent_p.I180I|IGSF10_uc011boc.1_Silent_p.I132I NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2153 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTCCAGCTTTGATTCTCTTGT 0.453 NaN 0 0 0 0.010729 0 9 42 IGSF10 285313 broad.mit.edu 37 3 151166756 151166756 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:151166756G>C uc011bod.1 - 4 1013 c.1013C>G c.(1012-1014)TCA>TGA p.S338* NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 338 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGATGTCCTTGAGGGCTTTTG 0.413 NaN 0 0 0 0.001855 0 11 76 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:184870595G>A uc003fpd.2 - 1 208 c.17C>T c.(16-18)TCG>TTG p.S6L NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 6 0 CGACGCCGGCGAGGCCGCCGC 0.716 NaN 0 0 0 0.004482 0 6 35 LPP 4026 broad.mit.edu 37 3 188327106 188327106 + Missense_Mutation SNP T T C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:188327106T>C uc003frs.1 + 6 833 c.587T>C c.(586-588)ATC>ACC p.I196T LPP_uc011bsg.1_Missense_Mutation_p.I196T|LPP_uc011bsi.1_Missense_Mutation_p.I196T|LPP_uc003frt.2_Missense_Mutation_p.I196T|LPP_uc011bsj.1_Missense_Mutation_p.I33T NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 196 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GTGGCTCCAATCGGAACACTC 0.562 NaN T HMGA2|MLL|C12orf9 lipoma|leukemia 0 0 0 0.008361 0 28 132 CCDC50 152137 broad.mit.edu 37 3 191100573 191100573 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:191100573G>A uc003fsw.2 + 9 1343 c.753G>A c.(751-753)GAG>GAA p.E251E CCDC50_uc003fsv.2_Silent_p.E427E NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 251 cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AGTCAAAAGAGAGTGATGAAC 0.373 NaN 0 0 0 0.001168 0 3 30 PYDC2 152138 broad.mit.edu 37 3 191178959 191178959 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:191178959C>T uc011bso.1 + 1 8 c.8C>T c.(7-9)TCT>TTT p.S3F NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN pyrin domain containing 2 3 DAPIN. cytoplasm|nucleus 0 AAGATGGCATCTTCTGCAGAG 0.428 NaN 0 0 0 0.001855 0 8 63 ATP13A4 84239 broad.mit.edu 37 3 193130105 193130105 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:193130105G>A uc003ftd.2 - 27 3178 c.3070C>T c.(3070-3072)CCA>TCA p.P1024S ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 1024 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATTTTTTCTGGAGCAGTTGGA 0.408 NaN 0 0 0 0.00333 0 18 139 HES1 3280 broad.mit.edu 37 3 193855682 193855682 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:193855682C>T uc003ftq.1 + 4 739 c.503C>T c.(502-504)CCG>CTG p.P168L NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 168 Pro-rich. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1) 2 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) GCGCCGCCACCGCCCCCACCG 0.627 NaN 0 0 0 0.001855 0 7 106 ATP13A3 79572 broad.mit.edu 37 3 194146180 194146180 + Missense_Mutation SNP T T C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:194146180T>C uc003fty.3 - 29 3606 c.3204A>G c.(3202-3204)ATA>ATG p.I1068M ATP13A3_uc003ftx.3_Translation_Start_Site NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 1068 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CATAATTTTGTATATTATGTT 0.358 NaN 0 0 0 0.00308 0 6 35 ACAP2 23527 broad.mit.edu 37 3 195053852 195053852 + Missense_Mutation SNP T T A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr3:195053852T>A uc003fun.3 - 8 815 c.574A>T c.(574-576)ATG>TTG p.M192L NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 192 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 AATGACAACATCTAATAGGGA 0.279 NaN 0 0 0 0.001855 0 12 57 PIGG 54872 broad.mit.edu 37 4 499636 499636 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:499636G>A uc003gak.3 + 3 626 c.490G>A c.(490-492)GAA>AAA p.E164K PIGG_uc003gaj.3_Missense_Mutation_p.E164K|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.E75K|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.E42K|PIGG_uc003gam.2_Missense_Mutation_p.E75K|PIGG_uc003gan.2_Missense_Mutation_p.E75K NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 164 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 TTATGGAGATGAAACCTGGGT 0.383 NaN 0 0 0 0.00308 0 7 54 KIAA1530 57654 broad.mit.edu 37 4 1343568 1343568 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:1343568G>A uc003gde.3 + 3 802 c.355G>A c.(355-357)GGG>AGG p.G119R NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 119 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GGCCGTGGAAGGGTGGAATGA 0.612 NaN 0 0 0 0.00308 0 5 31 WHSC1 7468 broad.mit.edu 37 4 1940246 1940246 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:1940246C>G uc003gdz.3 + 8 1919 c.1743C>G c.(1741-1743)CTC>CTG p.L581L WHSC1_uc003geb.3_Silent_p.L581L|WHSC1_uc003gec.3_Silent_p.L581L|WHSC1_uc003ged.3_Silent_p.L581L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'Flank|WHSC1_uc003gdy.1_Silent_p.L581L|WHSC1_uc010icd.1_Silent_p.L581L|WHSC1_uc003gea.1_Silent_p.L581L|WHSC1_uc010ice.1_Silent_p.L581L|WHSC1_uc003geh.1_Silent_p.L581L NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 581 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CCTCCTCGCTCAAGAGCCAGG 0.498 NaN T IGH@ MM 0 0 0 0.001855 0 10 86 FAM193A 8603 broad.mit.edu 37 4 2673965 2673965 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:2673965G>C uc010icl.2 + 11 1675 c.1324G>C c.(1324-1326)GAG>CAG p.E442Q FAM193A_uc010ick.2_Missense_Mutation_p.E642Q|FAM193A_uc003gfd.2_Missense_Mutation_p.E442Q|FAM193A_uc011bvm.1_Missense_Mutation_p.E464Q|FAM193A_uc011bvn.1_Missense_Mutation_p.E442Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E296Q NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 442 ovary(3) 3 CTTGAGCCCAGAGAAGCCCAC 0.552 NaN 0 0 0 0.001368 0 11 85 LRPAP1 4043 broad.mit.edu 37 4 3516565 3516565 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:3516565C>G uc003ghi.2 - 7 1010 c.925G>C c.(925-927)GAG>CAG p.E309Q NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 309 LDL receptor binding (Potential).|Potential. negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) CCCACGCTCTCTGCGTGCCTC 0.632 NaN 0 0 0 0.010504 0 19 148 CRMP1 1400 broad.mit.edu 37 4 5827255 5827255 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:5827255G>A uc003gip.2 - 14 1694 c.1593C>T c.(1591-1593)ATC>ATT p.I531I EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Silent_p.I443I|CRMP1_uc003giq.2_Silent_p.I531I|CRMP1_uc003gir.2_Silent_p.I526I|CRMP1_uc003gis.2_Silent_p.I645I NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 531 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) GGAGGTTTCTGATGGGTGGGG 0.547 NaN 0 0 0 0.004007 0 13 80 GRPEL1 80273 broad.mit.edu 37 4 7062677 7062677 + Missense_Mutation SNP C C T rs144832422 byFrequency TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:7062677C>T uc003gjy.1 - 4 607 c.566G>A c.(565-567)GGC>GAC p.G189D GRPEL1_uc003gjz.1_3'UTR NM_025196 NP_079472 Q9HAV7 GRPE1_HUMAN GrpE-like 1, mitochondrial precursor 189 protein folding|protein import into mitochondrial matrix mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding 0 GGCCACTGTGCCTGGCTCCTT 0.567 NaN 0 0 0 0.011902 0 43 255 ANAPC4 29945 broad.mit.edu 37 4 25395483 25395483 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:25395483G>C uc003gro.2 + 11 975 c.846G>C c.(844-846)CAG>CAC p.Q282H ANAPC4_uc003grp.2_Missense_Mutation_p.Q167H|ANAPC4_uc010iet.1_Intron|ANAPC4_uc010ieu.1_Missense_Mutation_p.Q91H NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 282 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) TACTAATGCAGATGGATTCTC 0.333 NaN 0 0 0 0.001984 0 4 43 RBPJ 3516 broad.mit.edu 37 4 26432520 26432520 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:26432520C>T uc003grx.1 + 12 1630 c.1394C>T c.(1393-1395)TCA>TTA p.S465L RBPJ_uc003gry.1_Missense_Mutation_p.S450L|RBPJ_uc003grz.1_Missense_Mutation_p.S465L|RBPJ_uc003gsa.1_Missense_Mutation_p.S451L|RBPJ_uc003gsb.1_Missense_Mutation_p.S452L|RBPJ_uc003gsc.1_3'UTR|uc003gsd.2_5'Flank NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 465 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) CGAGCCAATTCAAGCCAGGTG 0.507 NaN 0 0 0 0.010729 0 10 69 FAM114A1 92689 broad.mit.edu 37 4 38910248 38910248 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:38910248G>A uc003gtn.2 + 7 869 c.693G>A c.(691-693)TTG>TTA p.L231L FAM114A1_uc011byh.1_Silent_p.L24L NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN hypothetical protein LOC92689 231 cytoplasm ovary(1) 1 TTGATGCGTTGGAATTCATCG 0.468 NaN 0 0 0 0.001984 0 7 64 KLHL5 51088 broad.mit.edu 37 4 39116803 39116803 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:39116803G>A uc003gts.2 + 10 2139 c.2064G>A c.(2062-2064)TGG>TGA p.W688* KLHL5_uc003gtp.2_Nonsense_Mutation_p.W642*|KLHL5_uc003gtq.2_Nonsense_Mutation_p.W501*|KLHL5_uc003gtr.1_Nonsense_Mutation_p.W688*|KLHL5_uc003gtt.2_Nonsense_Mutation_p.W627* NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 688 Kelch 5. cytoplasm|cytoskeleton actin binding ovary(1) 1 CAGACATGTGGACTGCAGTAG 0.398 NaN 0 0 0 0.008291 0 7 82 KLB 152831 broad.mit.edu 37 4 39448748 39448748 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:39448748C>G uc003gua.2 + 4 2499 c.2402C>G c.(2401-2403)TCG>TGG p.S801W KLB_uc011byj.1_Missense_Mutation_p.S792W NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 801 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 CTTTCCAGCTCGGCCCTGCCG 0.647 NaN 0 0 0 0.00499 0 16 74 RHOH 399 broad.mit.edu 37 4 40245012 40245012 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:40245012G>C uc003guz.2 + 3 730 c.6G>C c.(4-6)CTG>CTC p.L2L NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 2 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 GGAAGATGCTGAGTTCCATCA 0.582 NaN 0 0 0 0.007413 0 16 88 KDR 3791 broad.mit.edu 37 4 55968637 55968637 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:55968637G>A uc003has.2 - 14 2328 c.2026C>T c.(2026-2028)CAG>TAG p.Q676* KDR_uc003hat.1_Nonsense_Mutation_p.Q676* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 676 Ig-like C2-type 7.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTGTCGTCTGATTCTCCAGG 0.438 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.000602 0 4 15 KIAA1211 57482 broad.mit.edu 37 4 57179512 57179512 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:57179512G>A uc003hbk.2 + 7 895 c.504G>A c.(502-504)CAG>CAA p.Q168Q KIAA1211_uc010iha.2_Silent_p.Q161Q|KIAA1211_uc011bzz.1_Silent_p.Q78Q|KIAA1211_uc003hbm.1_Silent_p.Q54Q NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 168 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CAAAAAAACAGAGGGTGTCAA 0.567 NaN 0 0 0 0.001855 0 12 102 SPINK2 6691 broad.mit.edu 37 4 57677932 57677932 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:57677932C>T uc003hcg.1 - 3 193 c.128G>A c.(127-129)GGA>GAA p.G43E NM_021114 NP_066937 P20155 ISK2_HUMAN serine protease inhibitor, Kazal type 2 43 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity 0 Glioma(25;0.08)|all_neural(26;0.181) TCTGGGACATCCTGGTAATCT 0.393 NaN 0 0 0 0.00278 0 19 134 C4orf14 84273 broad.mit.edu 37 4 57829640 57829640 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:57829640C>A uc003hck.2 - 7 2148 c.2073G>T c.(2071-2073)AAG>AAT p.K691N NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 691 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) TTCCTTTCTTCTTCCTCACGT 0.358 NaN 1 0 2.39556e-15 0.00278 2.57008e-15 21 88 ANKRD17 26057 broad.mit.edu 37 4 74019627 74019627 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:74019627C>G uc003hgp.2 - 6 1321 c.1204G>C c.(1204-1206)GAG>CAG p.E402Q ANKRD17_uc003hgo.2_Missense_Mutation_p.E289Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.E402Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.E402Q|ANKRD17_uc011cbd.1_Missense_Mutation_p.E31Q NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 402 ANK 6. 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) AGGGCACTCTCTTTAAATTCA 0.348 NaN 0 0 0 0.004482 0 6 57 PPEF2 5470 broad.mit.edu 37 4 76817437 76817437 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:76817437C>T uc003hix.2 - 2 399 c.42G>A c.(40-42)CAG>CAA p.Q14Q PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.Q14Q NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 14 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTCTGCATTCTGGAAAGCAA 0.527 NaN OREG0016229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00278 0 16 105 SDAD1 55153 broad.mit.edu 37 4 76882204 76882204 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:76882204G>A uc003hje.3 - 16 1452 c.1333C>T c.(1333-1335)CAG>TAG p.Q445* SDAD1_uc003hjf.3_Nonsense_Mutation_p.Q348*|SDAD1_uc011cbr.1_Nonsense_Mutation_p.Q408* NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 445 protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGCAGCATCTGAGGATTCAGT 0.363 NaN 0 0 0 0.007413 0 14 99 PRKG2 5593 broad.mit.edu 37 4 82065388 82065388 + Silent SNP C C T rs112801782 byFrequency TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:82065388C>T uc003hmh.2 - 9 1265 c.1251G>A c.(1249-1251)GCG>GCA p.A417A PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.A417A NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 417 cGMP 2. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 CCACTTACTTCGCATGTCTTT 0.428 NaN 0 0 0 0.004482 0 7 34 PTPN13 5783 broad.mit.edu 37 4 87730928 87730928 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:87730928G>C uc003hpz.2 + 46 7570 c.7090G>C c.(7090-7092)GAG>CAG p.E2364Q PTPN13_uc003hpy.2_Missense_Mutation_p.E2369Q|PTPN13_uc003hqa.2_Missense_Mutation_p.E2345Q|PTPN13_uc003hqb.2_Missense_Mutation_p.E2173Q NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 2364 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAGACCAGAGAGGTGCGCCA 0.323 NaN 0 0 0 0.003163 0 11 70 DSPP 1834 broad.mit.edu 37 4 88534227 88534227 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:88534227C>G uc003hqu.2 + 4 1009 c.889C>G c.(889-891)CAA>GAA p.Q297E NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 297 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TAGCATAGGTCAAAATTCAGA 0.428 NaN 0 0 0 0.00308 0 6 30 HERC6 55008 broad.mit.edu 37 4 89334244 89334244 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:89334244G>A uc011cdi.1 + 12 1567 c.1384G>A c.(1384-1386)GAG>AAG p.E462K HERC6_uc011cdj.1_Missense_Mutation_p.E462K|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 462 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) TACGTGTCTCGAGGATGATCT 0.433 NaN 0 0 0 0.00623 0 26 150 SMARCAD1 56916 broad.mit.edu 37 4 95201922 95201922 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:95201922G>A uc003htc.3 + 20 2853 c.2598G>A c.(2596-2598)TTG>TTA p.L866L SMARCAD1_uc003htb.3_Silent_p.L868L|SMARCAD1_uc003htd.3_Silent_p.L868L|SMARCAD1_uc010ila.2_Silent_p.L731L|SMARCAD1_uc011cdw.1_Silent_p.L436L NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 866 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TGTCTGAATTGAAACAGAAGG 0.323 NaN 0 0 0 0.001368 0 10 67 ADH1A 124 broad.mit.edu 37 4 100200605 100200605 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:100200605C>G uc003hur.1 - 8 1152 c.1081G>C c.(1081-1083)GAC>CAC p.D361H uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.D361H NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 361 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TGAAGCAGGTCAAATCCTTCA 0.338 NaN 0 0 0 0.001168 0 6 11 MTTP 4547 broad.mit.edu 37 4 100512501 100512501 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:100512501C>T uc003hvc.3 + 6 867 c.611C>T c.(610-612)CCA>CTA p.P204L MTTP_uc011cej.1_Missense_Mutation_p.P231L NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 204 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TTTACGACCCCAAATCAGGTA 0.328 NaN 0 0 0 0.009096 0 3 22 BANK1 55024 broad.mit.edu 37 4 102981531 102981531 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:102981531G>C uc003hvy.3 + 12 2407 c.2133G>C c.(2131-2133)CTG>CTC p.L711L BANK1_uc003hvx.3_Silent_p.L696L|BANK1_uc010ill.2_Silent_p.L578L|BANK1_uc003hvz.3_Silent_p.L681L NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 711 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AAAGTGGCCTGGAAATGATTC 0.413 NaN 0 0 0 0.00308 0 6 39 RRH 10692 broad.mit.edu 37 4 110757312 110757312 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:110757312G>A uc003hzv.2 + 4 581 c.547G>A c.(547-549)GAT>AAT p.D183N NM_006583 NP_006574 O14718 OPSX_HUMAN peropsin 183 Extracellular. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GAGGAAAAATGATAGGTAAGA 0.398 NaN 0 0 0 0.001168 0 5 42 ENPEP 2028 broad.mit.edu 37 4 111430911 111430911 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:111430911C>G uc003iab.3 + 5 1484 c.1142C>G c.(1141-1143)TCA>TGA p.S381* NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 381 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GAATCAGCCTCATCAAACCAA 0.453 NaN 0 0 0 0.006214 0 7 70 SYNPO2 171024 broad.mit.edu 37 4 119947939 119947939 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:119947939G>A uc003icm.3 + 3 611 c.415G>A c.(415-417)GAA>AAA p.E139K SYNPO2_uc010ina.2_Missense_Mutation_p.E139K|SYNPO2_uc010inb.2_Missense_Mutation_p.E139K|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.E67K NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 139 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TGTCAAGACTGAAGTTCCCCT 0.542 NaN 0 0 0 0.006214 0 7 41 MAD2L1 4085 broad.mit.edu 37 4 120987847 120987847 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:120987847C>T uc003idl.2 - 1 167 c.43G>A c.(43-45)GGG>AGG p.G15R MAD2L1_uc003idm.2_Missense_Mutation_p.G15R NM_002358 NP_002349 Q13257 MD2L1_HUMAN MAD2-like 1 15 HORMA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity 0 TCGGCGCTCCCGCGCAGGGTG 0.637 NaN 0 0 0 0.008291 0 8 63 PLK4 10733 broad.mit.edu 37 4 128811324 128811324 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:128811324G>C uc003ifo.2 + 7 2008 c.1763G>C c.(1762-1764)AGA>ACA p.R588T PLK4_uc011cgs.1_Missense_Mutation_p.R556T|PLK4_uc011cgt.1_Missense_Mutation_p.R547T NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 588 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CGTACATTAAGAAGCATTACA 0.393 NaN 0 0 0 0.006214 0 8 40 MAML3 55534 broad.mit.edu 37 4 140646942 140646942 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:140646942C>G uc003ihz.1 - 6 3116 c.2364G>C c.(2362-2364)CGG>CGC p.R788R MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.R256R NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 789 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) GGTATGGATTCCGCTGTGGCT 0.512 NaN 0 0 0 0.008871 0 15 115 PET112L 5188 broad.mit.edu 37 4 152682052 152682052 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:152682052C>T uc003iml.2 - 1 95 c.83G>A c.(82-84)AGA>AAA p.R28K PET112L_uc003imm.3_Missense_Mutation_p.R28K NM_004564 NP_004555 O75879 GATB_HUMAN PET112-like precursor 28 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGGAGCCCCTCTTCGGTGGCA 0.622 NaN 0 0 0 0.006214 0 8 69 KIAA0922 23240 broad.mit.edu 37 4 154517430 154517430 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:154517430C>T uc003inm.3 + 20 2065 c.2013C>T c.(2011-2013)TCC>TCT p.S671S KIAA0922_uc010ipp.2_Silent_p.S672S|KIAA0922_uc010ipq.2_Silent_p.S440S NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 671 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CTGAGGAATCCAGGTTTGGCA 0.413 NaN 0 0 0 0.00245 0 12 89 PALLD 23022 broad.mit.edu 37 4 169602528 169602528 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:169602528C>G uc011cjx.1 + 4 1344 c.1133C>G c.(1132-1134)TCA>TGA p.S378* PALLD_uc003iru.2_Nonsense_Mutation_p.S378*|PALLD_uc003irv.2_Translation_Start_Site NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 378 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCTTTCAAATCAAGAGCTGGA 0.373 NaN Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.008291 0 8 54 GALNTL6 442117 broad.mit.edu 37 4 173269825 173269825 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:173269825G>A uc003isv.2 + 5 1274 c.538G>A c.(538-540)GAC>AAC p.D180N NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 180 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 TCTAGTAGATGACTTCAGTGA 0.383 NaN 0 0 0 0.001984 0 5 46 MORF4 10934 broad.mit.edu 37 4 174537452 174537452 + Missense_Mutation SNP A A G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:174537452A>G uc011cke.1 - 1 343 c.343T>C c.(343-345)TCT>CCT p.S115P NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TTTCCATGAGATTTCTTGTAA 0.398 NaN 0 0 0 0.001855 0 13 104 SNX25 83891 broad.mit.edu 37 4 186274687 186274687 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:186274687G>A uc003ixh.2 + 15 2212 c.2023G>A c.(2023-2025)GAT>AAT p.D675N SNX25_uc010ish.2_Missense_Mutation_p.D391N|SNX25_uc003ixi.2_Missense_Mutation_p.D179N NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 675 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGATGATGTGGATGGGAGGAA 0.418 NaN 0 0 0 0.010729 0 10 72 LRP2BP 55805 broad.mit.edu 37 4 186295477 186295477 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr4:186295477C>T uc003ixj.1 - 4 1281 c.469G>A c.(469-471)GAA>AAA p.E157K LRP2BP_uc003ixk.1_Missense_Mutation_p.E131K|LRP2BP_uc011ckr.1_Missense_Mutation_p.E157K NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 157 Sel1-like 2. cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GATTACCTTTCAGCTTCCTCA 0.413 NaN 0 0 0 0.001984 0 5 72 PLEKHG4B 153478 broad.mit.edu 37 5 155046 155046 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:155046G>A uc003jak.2 + 6 1031 c.981G>A c.(979-981)CTG>CTA p.L327L NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 327 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GCTGCCAGCTGACCGCAGACC 0.572 NaN 0 0 0 0.005443 0 24 92 ADAMTS16 170690 broad.mit.edu 37 5 5239963 5239963 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:5239963C>T uc003jdl.2 + 16 2586 c.2448C>T c.(2446-2448)TTC>TTT p.F816F ADAMTS16_uc003jdk.1_Silent_p.F816F NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 816 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GCACTACTTTCGACTACAGAC 0.517 NaN 0 0 0 0.00278 0 19 131 NSUN2 54888 broad.mit.edu 37 5 6605470 6605470 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:6605470C>T uc003jdu.2 - 15 1718 c.1653G>A c.(1651-1653)CGG>CGA p.R551R NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Silent_p.R315R|NSUN2_uc011cmk.1_Silent_p.R516R|NSUN2_uc003jdv.2_Silent_p.R315R NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 551 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 CTTCTGTAGTCCGAGTTAACA 0.413 NaN 0 0 0 0.001368 0 13 126 FAM105A 54491 broad.mit.edu 37 5 14601215 14601215 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:14601215C>T uc003jfj.2 + 2 319 c.206C>T c.(205-207)TCA>TTA p.S69L NM_019018 NP_061891 Q9NUU6 F105A_HUMAN hypothetical protein LOC54491 69 ovary(1) 1 Lung NSC(4;0.00592) CATTTATATTCAGGGCACAAG 0.398 NaN 0 0 0 0.004656 0 22 208 RNASEN 29102 broad.mit.edu 37 5 31515224 31515224 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:31515224G>C uc003jhg.2 - 7 1520 c.1161C>G c.(1159-1161)ATC>ATG p.I387M RNASEN_uc003jhh.2_Missense_Mutation_p.I350M|RNASEN_uc003jhi.2_Missense_Mutation_p.I350M|RNASEN_uc010iui.1_Missense_Mutation_p.I310M NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 387 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 CTTTTTCCTTGATTGAGGTAT 0.468 NaN 0 0 0 0.001984 0 7 65 MTMR12 54545 broad.mit.edu 37 5 32229910 32229910 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:32229910C>G uc003jhq.2 - 16 2388 c.2218G>C c.(2218-2220)GAG>CAG p.E740Q MTMR12_uc010iuk.2_Missense_Mutation_p.E686Q|MTMR12_uc010iul.2_Missense_Mutation_p.E630Q NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 740 cytoplasm phosphatase activity ovary(1) 1 TCCACGAACTCATCTTCTCGT 0.507 NaN 0 0 0 0.003163 0 14 104 RXFP3 51289 broad.mit.edu 37 5 33937059 33937059 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:33937059G>C uc003jic.1 + 1 571 c.214G>C c.(214-216)GAG>CAG p.E72Q NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 72 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CGGCGGGGCAGAGAGCGCGGA 0.692 NaN 0 0 0 0.001368 0 10 142 UGT3A2 167127 broad.mit.edu 37 5 36035959 36035959 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:36035959G>A uc003jjz.1 - 7 1506 c.1413C>T c.(1411-1413)CTC>CTT p.L471L UGT3A2_uc011cos.1_Silent_p.L437L|UGT3A2_uc011cot.1_Silent_p.L169L NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 471 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATAGGGCTTGAGGTGCGTCG 0.617 NaN 0 0 0 0.00499 0 13 54 SLC1A3 6507 broad.mit.edu 37 5 36677231 36677231 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:36677231G>C uc003jkj.3 + 6 1281 c.805G>C c.(805-807)GAG>CAG p.E269Q SLC1A3_uc011cox.1_Missense_Mutation_p.E162Q|SLC1A3_uc010iuy.2_Missense_Mutation_p.E269Q NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 269 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GGCCCTGAGAGAGTTCTTTGA 0.413 NaN 0 0 0 0.000602 0 4 57 C5orf42 65250 broad.mit.edu 37 5 37174003 37174003 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:37174003G>A uc011cpa.1 - 32 6256 c.6025C>T c.(6025-6027)CTG>TTG p.L2009L C5orf42_uc011coy.1_Silent_p.L509L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.L1084L|C5orf42_uc003jkr.1_Silent_p.L42L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2009 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTTGATATCAGAAGTGGAACT 0.373 NaN 0 0 0 0.000602 0 3 55 SNX18 112574 broad.mit.edu 37 5 53813855 53813855 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:53813855G>A uc003jpj.3 + 1 263 c.73G>A c.(73-75)GAG>AAG p.E25K SNX18_uc011cqg.1_Missense_Mutation_p.E25K|SNX18_uc003jpi.3_Missense_Mutation_p.E25K NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 25 SH3. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) GCGAGAGCACGAGGTGCTGAG 0.706 NaN 0 0 0 0.004672 0 3 14 ANKRD55 79722 broad.mit.edu 37 5 55407501 55407501 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:55407501C>T uc003jqu.2 - 10 1226 c.1074G>A c.(1072-1074)CAG>CAA p.Q358Q ANKRD55_uc003jqt.2_Silent_p.Q70Q NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 357 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GATGGGCTCTCTGCTCTTCTT 0.522 NaN 0 0 0 0.00245 0 13 130 MAP3K1 4214 broad.mit.edu 37 5 56178366 56178366 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:56178366C>T uc003jqw.3 + 14 3840 c.3339C>T c.(3337-3339)TTC>TTT p.F1113F NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1113 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AGACAGTGTTCACCCCAGTAG 0.433 NaN 0 0 0 0.004482 0 6 48 ELOVL7 79993 broad.mit.edu 37 5 60050591 60050591 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:60050591G>T uc003jsi.3 - 9 906 c.706C>A c.(706-708)CCA>ACA p.P236T ELOVL7_uc011cqo.1_Missense_Mutation_p.P149T|ELOVL7_uc010iwk.2_Missense_Mutation_p.P236T|ELOVL7_uc003jsj.3_Missense_Mutation_p.P223T NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN elongation of very long chain fatty acids-like 236 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GCAAAGACTGGAAACTGATAC 0.393 NaN 1 0 0.00116845 0.001168 0.00119519 5 23 HTR1A 3350 broad.mit.edu 37 5 63257087 63257087 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:63257087C>T uc011cqt.1 - 1 460 c.460G>A c.(460-462)GCT>ACT p.A154T NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 154 Helical; Name=4; (By similarity). RAA -> PR (in Ref. 1; AAA36440/CAA31908). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ATGAGCGCAGCGGCGCGCCGG 0.647 NaN 0 0 0 0.004007 0 17 60 BDP1 55814 broad.mit.edu 37 5 70860685 70860685 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:70860685C>G uc003kbp.1 + 39 8111 c.7848C>G c.(7846-7848)ATC>ATG p.I2616M BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2616 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCAATGATATCTTCATTGAAG 0.368 NaN 0 0 0 0.00308 0 8 73 MAP1B 4131 broad.mit.edu 37 5 71492567 71492567 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:71492567G>A uc003kbw.3 + 5 3626 c.3385G>A c.(3385-3387)GAG>AAG p.E1129K MAP1B_uc010iyw.1_Missense_Mutation_p.E1146K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1003K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1003K NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1129 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GATATCCAGTGAGCCCACCCC 0.512 NaN 0 0 0 0.004482 0 6 42 S100Z 170591 broad.mit.edu 37 5 76171199 76171199 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:76171199C>T uc003kep.1 + 3 345 c.15C>T c.(13-15)CTC>CTT p.L5L S100Z_uc003keq.3_Silent_p.L5L NM_130772 NP_570128 Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z 5 calcium ion binding ovary(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) CCACCCAGCTCGAGATGGCCA 0.522 NaN 0 0 0 0.001168 0 5 27 SPZ1 84654 broad.mit.edu 37 5 79616517 79616517 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:79616517C>G uc003kgn.2 + 1 728 c.483C>G c.(481-483)ATC>ATG p.I161M uc011ctk.1_Intron NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAGAAAATATCAGAGGACTTG 0.373 NaN 0 0 0 0.001168 0 4 35 APC 324 broad.mit.edu 37 5 112174757 112174757 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:112174757G>T uc010jby.2 + 16 3846 c.3466G>T c.(3466-3468)GAA>TAA p.E1156* APC_uc011cvt.1_Nonsense_Mutation_p.E1138*|APC_uc003kpz.3_Nonsense_Mutation_p.E1156*|APC_uc003kpy.3_Nonsense_Mutation_p.E1156*|APC_uc010jbz.2_Nonsense_Mutation_p.E873*|APC_uc010jca.2_Nonsense_Mutation_p.E456* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1156 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.|Asp/Glu-rich (acidic). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1156fs*8(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GCATGAAGAAGAAGAGAGACC 0.338 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 1 0 3.59834e-05 0.001168 3.71589e-05 6 20 ZNF608 57507 broad.mit.edu 37 5 124036729 124036729 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:124036729G>A uc003ktq.1 - 2 1263 c.1140C>T c.(1138-1140)ATC>ATT p.I380I ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.I380I|ZNF608_uc003ktt.1_Silent_p.I380I NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 380 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CATGCCACACGATCCCTTCCA 0.443 NaN 0 0 0 0.009096 0 3 71 CDKN2AIPNL 91368 broad.mit.edu 37 5 133747454 133747454 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:133747454G>C uc011cxs.1 - 1 136 c.92C>G c.(91-93)TCA>TGA p.S31* CDKN2AIPNL_uc003kzi.1_Nonsense_Mutation_p.S31* NM_080656 NP_542387 Q96HQ2 C2AIL_HUMAN CDKN2A interacting protein N-terminal like 31 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCGCTCTCTGAGTAGGAGCG 0.697 NaN OREG0016789 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 6 33 SEC24A 10802 broad.mit.edu 37 5 134022530 134022530 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:134022530C>G uc003kzs.2 + 10 1830 c.1542C>G c.(1540-1542)CAC>CAG p.H514Q SEC24A_uc011cxu.1_Missense_Mutation_p.H278Q NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 514 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTGTCTCACAATGCAGTCG 0.333 NaN 0 0 0 0.001168 0 4 73 SEC24A 10802 broad.mit.edu 37 5 134032871 134032871 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:134032871C>G uc003kzs.2 + 14 2330 c.2042C>G c.(2041-2043)TCT>TGT p.S681C SEC24A_uc011cxu.1_Missense_Mutation_p.S445C NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 681 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGGACTGTTCTGGTCAGCAA 0.328 NaN 0 0 0 0.003163 0 12 89 MATR3 9782 broad.mit.edu 37 5 138643642 138643642 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:138643642G>A uc003ldu.2 + 5 965 c.538G>A c.(538-540)GAA>AAA p.E180K MATR3_uc003lds.2_Missense_Mutation_p.E180K|MATR3_uc010jfb.2_Missense_Mutation_p.E180K|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.E180K|MATR3_uc003ldx.2_Missense_Mutation_p.E180K|MATR3_uc010jfc.2_Missense_Mutation_p.E180K|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.E180K|MATR3_uc003lea.2_Missense_Mutation_p.E180K NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 180 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGATTGGGAAGAAAAAAGGCA 0.453 NaN 0 0 0 0.00308 0 6 30 PCDHB1 29930 broad.mit.edu 37 5 140432123 140432123 + Silent SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:140432123C>A uc003lik.1 + 1 1145 c.1068C>A c.(1066-1068)CTC>CTA p.L356L NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 356 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGCCCACTCCCTGAAGACT 0.537 NaN 1 0 4.3838e-07 0.001855 4.58548e-07 11 80 PCDHB13 56123 broad.mit.edu 37 5 140594403 140594403 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:140594403C>T uc003lja.1 + 1 895 c.708C>T c.(706-708)GTC>GTT p.V236V NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 236 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGGATGTCAACGATAATG 0.532 NaN 0 0 0 0.004656 0 20 189 PCDHGA4 56111 broad.mit.edu 37 5 140736611 140736611 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:140736611G>A uc003ljq.1 + 1 1844 c.1844G>A c.(1843-1845)GGA>GAA p.G615E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G615E NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 615 Extracellular (Potential).|Cadherin 6. 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) AGCGAGCCGGGACTATTTGCA 0.617 NaN 0 0 0 0.00499 0 14 68 PCDHGB3 56102 broad.mit.edu 37 5 140750571 140750571 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:140750571G>A uc003ljw.1 + 1 610 c.610G>A c.(610-612)GAG>AAG p.E204K 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_uc011dat.1_Missense_Mutation_p.E204K NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 204 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACAGGGAAGAGCAGCCACA 0.552 NaN 0 0 0 0.006214 0 10 48 PCDHGA6 56109 broad.mit.edu 37 5 140753992 140753992 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:140753992G>A uc003ljy.1 + 1 342 c.342G>A c.(340-342)CTG>CTA p.L114L 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_uc011dau.1_Silent_p.L114L NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 114 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGATAAACTGAATCTTTATC 0.483 NaN 0 0 0 0.008871 0 16 70 PCDHGB5 56101 broad.mit.edu 37 5 140779098 140779098 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:140779098G>A uc003lkf.1 + 1 1404 c.1404G>A c.(1402-1404)GCG>GCA p.A468A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.A468A NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 468 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) CCTCCATCGCGCAAGTCTGCG 0.567 NaN 0 0 0 0.000602 0 4 37 PCDH12 51294 broad.mit.edu 37 5 141325351 141325351 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:141325351C>T uc003llx.2 - 4 4361 c.3150G>A c.(3148-3150)CTG>CTA p.L1050L NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 1050 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGGGCGCTCAGCCGGTCCA 0.677 NaN 0 0 0 0.007413 0 16 116 FGF1 2246 broad.mit.edu 37 5 141974881 141974881 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:141974881G>A uc003lmm.2 - 4 522 c.442C>T c.(442-444)CTC>TTC p.L148F FGF1_uc011dbi.1_3'UTR|FGF1_uc003lmn.3_Missense_Mutation_p.L148F|FGF1_uc003lmp.3_3'UTR|FGF1_uc003lmq.2_Missense_Mutation_p.L148F|FGF1_uc010jgj.2_Missense_Mutation_p.L147F|FGF1_uc003lmr.2_Missense_Mutation_p.L148F|FGF1_uc003lms.3_Missense_Mutation_p.L148F NM_001144892 NP_001138364 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) isoform 1 148 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding 0 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) GGCAGGGGGAGAAACAAGATT 0.493 NaN 0 0 0 0.008291 0 7 37 SH3TC2 79628 broad.mit.edu 37 5 148411215 148411215 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:148411215C>T uc003lpu.2 - 9 1189 c.1037G>A c.(1036-1038)AGA>AAA p.R346K SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.R339K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.R231K NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 346 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGGAGCATCTCTCCTCATC 0.522 NaN 0 0 0 0.001368 0 10 52 TCOF1 6949 broad.mit.edu 37 5 149754546 149754546 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:149754546C>T uc003lry.2 + 10 1416 c.1308C>T c.(1306-1308)GTC>GTT p.V436V TCOF1_uc003lrw.2_Silent_p.V436V|TCOF1_uc011dch.1_Silent_p.V436V|TCOF1_uc003lrz.2_Silent_p.V436V|TCOF1_uc003lrx.2_Silent_p.V359V|TCOF1_uc003lsa.2_Silent_p.V359V|TCOF1_uc011dci.1_5'Flank NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 436 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCCCAGGTCAGAGCCGCCT 0.662 NaN 0 0 0 0.001168 0 5 31 DCTN4 51164 broad.mit.edu 37 5 150110697 150110697 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:150110697C>T uc003lsv.2 - 7 735 c.633G>A c.(631-633)CAG>CAA p.Q211Q DCTN4_uc003lsu.2_Silent_p.Q154Q|DCTN4_uc010jhi.2_Silent_p.Q218Q|DCTN4_uc010jhj.2_RNA NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b 211 centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTATCTCTTTCTGATCCTCTC 0.343 NaN 0 0 0 0.004482 0 8 33 FAT2 2196 broad.mit.edu 37 5 150947809 150947809 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:150947809C>T uc003lue.3 - 1 697 c.684G>A c.(682-684)CGG>CGA p.R228R GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.R228R NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 228 Cadherin 2.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGAGATTTTCCGCATGCGGT 0.597 NaN 0 0 0 0.004482 0 8 34 GEMIN5 25929 broad.mit.edu 37 5 154308188 154308188 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:154308188C>T uc003lvx.3 - 6 896 c.813G>A c.(811-813)AAG>AAA p.K271K GEMIN5_uc011ddk.1_Silent_p.K270K NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 271 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCCTCTTCTCTTCAGAAAGG 0.473 NaN 0 0 0 0.001855 0 11 63 GABRP 2568 broad.mit.edu 37 5 170222427 170222427 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:170222427C>G uc003mau.2 + 5 654 c.456C>G c.(454-456)CTC>CTG p.L152L GABRP_uc011dev.1_Silent_p.L152L NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 152 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGTATGCCCTCAGGTACGCGG 0.532 NaN 0 0 0 0.004482 0 9 79 BOD1 91272 broad.mit.edu 37 5 173040145 173040145 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:173040145C>T uc003mcq.2 - 2 578 c.351G>A c.(349-351)CAG>CAA p.Q117Q BOD1_uc003mcr.2_Silent_p.Q117Q NM_138369 NP_612378 Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 117 cell division|mitosis condensed chromosome kinetochore|microtubule organizing center ovary(2) 2 GAACCACACTCTGCCTCAGAC 0.423 NaN 0 0 0 0.003954 0 22 166 RAB24 53917 broad.mit.edu 37 5 176730193 176730193 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr5:176730193G>C uc003mfv.2 - 2 466 c.97C>G c.(97-99)CTG>GTG p.L33V RAB24_uc003mfu.2_5'UTR|RAB24_uc003mfw.2_Missense_Mutation_p.L33V|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank NM_130781 NP_570137 Q969Q5 RAB24_HUMAN RAB24 gene product 33 autophagy|protein transport|small GTPase mediated signal transduction cytosol|membrane GTP binding|protein binding 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCCCACCAGAAAGCGGTCG 0.647 NaN 0 0 0 0.009535 0 25 156 FOXQ1 94234 broad.mit.edu 37 6 1313343 1313343 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:1313343C>T uc003mtl.3 + 1 669 c.404C>T c.(403-405)TCG>TTG p.S135L NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 135 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ATCCGCGACTCGGCGGGCGGG 0.592 NaN 0 0 0 0.006214 0 7 71 SLC22A23 63027 broad.mit.edu 37 6 3285315 3285315 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:3285315G>C uc003mvm.3 - 8 1577 c.1577C>G c.(1576-1578)TCA>TGA p.S526* uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Nonsense_Mutation_p.S245*|SLC22A23_uc003mvo.3_Nonsense_Mutation_p.S245*|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Nonsense_Mutation_p.S526* NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 526 ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) GGACTCACCTGAGTCTGGGTG 0.527 NaN 0 0 0 0.009096 0 3 32 SYCP2L 221711 broad.mit.edu 37 6 10911094 10911094 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:10911094G>A uc003mzo.2 + 12 1206 c.910G>A c.(910-912)GAG>AAG p.E304K SYCP2L_uc011din.1_Missense_Mutation_p.E145K|SYCP2L_uc010jow.2_Intron NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 304 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TTTTGCTGATGAGCATGAGGT 0.403 NaN 0 0 0 0.00632 0 20 303 NEDD9 4739 broad.mit.edu 37 6 11190713 11190713 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:11190713G>C uc003mzv.2 - 5 1556 c.1389C>G c.(1387-1389)CTC>CTG p.L463L NEDD9_uc010joz.2_Silent_p.L463L|NEDD9_uc003mzw.3_Silent_p.L317L NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 463 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGACAAAGTGGAGGTACTCCT 0.522 NaN 0 0 0 0.001984 0 5 67 JARID2 3720 broad.mit.edu 37 6 15512483 15512483 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:15512483G>C uc003nbj.2 + 14 3241 c.2997G>C c.(2995-2997)AGG>AGC p.R999S JARID2_uc011div.1_Missense_Mutation_p.R827S NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 999 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGGTGCACAGGACCGTGCAGC 0.607 NaN 0 0 0 0.001368 0 12 87 FAM8A1 51439 broad.mit.edu 37 6 17600696 17600696 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:17600696G>A uc003ncc.2 + 1 179 c.56G>A c.(55-57)GGA>GAA p.G19E NM_016255 NP_057339 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 19 integral to membrane 0 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GACGATGGCGGAGGGGACCAC 0.736 NaN 0 0 0 0.008291 0 10 14 NUP153 9972 broad.mit.edu 37 6 17675981 17675981 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:17675981C>T uc003ncd.1 - 3 555 c.355G>A c.(355-357)GCT>ACT p.A119T NUP153_uc011dje.1_Missense_Mutation_p.A119T|NUP153_uc010jpl.1_Missense_Mutation_p.A119T NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 119 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TAATTTGAAGCAGTACTAGTT 0.358 NaN 0 0 0 0.000602 0 5 69 FAM65B 9750 broad.mit.edu 37 6 24865637 24865637 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:24865637G>C uc003neo.1 - 7 632 c.456C>G c.(454-456)CTC>CTG p.L152L FAM65B_uc011djs.1_Silent_p.L181L|FAM65B_uc011dju.1_Silent_p.L186L|FAM65B_uc003nep.2_Silent_p.L152L|FAM65B_uc011djt.1_Silent_p.L152L NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 152 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 CACCATCCTGGAGGCGTCGCT 0.468 NaN 0 0 0 0.000602 0 5 55 FAM65B 9750 broad.mit.edu 37 6 24873898 24873898 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:24873898G>C uc003neo.1 - 3 407 c.231C>G c.(229-231)GTC>GTG p.V77V FAM65B_uc011djs.1_Silent_p.V106V|FAM65B_uc011dju.1_Silent_p.V111V|FAM65B_uc003nep.2_Silent_p.V77V|FAM65B_uc011djt.1_Silent_p.V77V NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 77 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 AGGCCCTGTAGACTTCTTCCA 0.438 NaN 0 0 0 0.001368 0 9 68 LRRC16A 55604 broad.mit.edu 37 6 25466165 25466165 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:25466165G>A uc011djw.1 + 9 1055 c.679G>A c.(679-681)GAT>AAT p.D227N LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 227 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GTCCTCTAAGGATCTAAAACT 0.363 NaN 0 0 0 0.008871 0 19 171 TRIM38 10475 broad.mit.edu 37 6 25967132 25967132 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:25967132C>T uc003nfm.2 + 3 817 c.382C>T c.(382-384)CTT>TTT p.L128F TRIM38_uc003nfn.2_Missense_Mutation_p.L128F NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 128 B box-type. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 CACCACAGCTCTTGTTGAAGA 0.572 NaN 0 0 0 0.010504 0 17 132 HIST1H1C 3006 broad.mit.edu 37 6 26056380 26056380 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:26056380G>A uc003nfw.2 - 1 320 c.277C>T c.(277-279)CTG>TTG p.L93L NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 93 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GTTTGCACCAGAGTGCCCTTG 0.547 NaN 0 0 0 0.010729 0 11 105 HIST1H2AD 3013 broad.mit.edu 37 6 26199108 26199108 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:26199108C>T uc003ngw.2 - 1 364 c.364G>A c.(364-366)GAG>AAG p.E122K HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 122 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) TGGTGACTCTCAGTCTTCTTG 0.488 NaN 0 0 0 0.00245 0 11 100 HIST1H2AD 3013 broad.mit.edu 37 6 26199439 26199439 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:26199439G>A uc003ngw.2 - 1 33 c.33C>T c.(31-33)GCC>GCT p.A11A HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 11 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) CCTTAGCTCGGGCCTTTCCGC 0.527 NaN 0 0 0 0.009096 0 4 38 BTN3A1 11119 broad.mit.edu 37 6 26407997 26407997 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:26407997C>A uc003nhv.2 + 4 900 c.532C>A c.(532-534)CAG>AAG p.Q178K BTN3A1_uc011dkj.1_Missense_Mutation_p.Q178K|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Missense_Mutation_p.Q178K NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 178 Ig-like V-type 2.|Extracellular (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 ACCCCAAATACAGTGGAGCAA 0.537 NaN 1 0 8.58068e-18 0.007291 9.24403e-18 25 119 BTN3A1 11119 broad.mit.edu 37 6 26411782 26411782 + Splice_Site SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:26411782G>A uc003nhv.2 + 9 1360 c.992_splice c.e9-1 p.E331_splice BTN3A1_uc011dkj.1_Splice_Site_p.E331_splice|BTN3A1_uc011dkk.1_Splice_Site_p.E279_splice|BTN3A1_uc010jqj.2_Splice_Site_p.E331_splice NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CTTCCTTTCAGAATGGAAAAA 0.438 NaN 0 0 0 0.004007 0 13 61 HIST1H2AM 8336 broad.mit.edu 37 6 27860615 27860615 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:27860615G>A uc003nkb.1 - 1 349 c.313C>T c.(313-315)CAG>TAG p.Q105* HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 105 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 ACACCGCCCTGAGCGATGGTA 0.542 NaN 0 0 0 0.004878 0 35 209 ZNF165 7718 broad.mit.edu 37 6 28056346 28056346 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:28056346G>C uc003nkg.2 + 5 1640 c.556G>C c.(556-558)GAG>CAG p.E186Q ZNF165_uc003nkh.2_Missense_Mutation_p.E186Q|ZNF165_uc003nki.3_Missense_Mutation_p.E186Q|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 186 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTTAGATAATGAGAGTGAAAA 0.318 NaN 0 0 0 0.009096 0 3 30 ZNF165 7718 broad.mit.edu 37 6 28056916 28056916 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:28056916G>A uc003nkg.2 + 5 2210 c.1126G>A c.(1126-1128)GAA>AAA p.E376K ZNF165_uc003nkh.2_Missense_Mutation_p.E376K|ZNF165_uc003nki.3_Missense_Mutation_p.E376K|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 376 C2H2-type 3. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGAATGTAATGAATGTGGGAA 0.443 NaN 0 0 0 0.006214 0 6 70 MAS1L 116511 broad.mit.edu 37 6 29454596 29454596 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:29454596G>A uc011dlq.1 - 1 1084 c.1084C>T c.(1084-1086)CAG>TAG p.Q362* NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 362 Cytoplasmic (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 TCCACATGCTGAGTAGAGTGT 0.517 NaN 0 0 0 0.012319 0 16 100 OR2H2 7932 broad.mit.edu 37 6 29556417 29556417 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:29556417G>A uc003nmr.1 + 1 735 c.696G>A c.(694-696)CGG>CGA p.R232R GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 232 Cytoplasmic (Potential). KGR -> TAW (in Ref. 1; AAB36567). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAAAAGGGCGGAGGAAAGCTT 0.527 NaN 0 0 0 0.001368 0 12 98 RNF39 80352 broad.mit.edu 37 6 30043525 30043525 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:30043525C>G uc003npe.2 - 1 104 c.42G>C c.(40-42)AAG>AAC p.K14N RNF39_uc003npd.2_Missense_Mutation_p.K14N NM_025236 NP_079512 Q9H2S5 RNF39_HUMAN ring finger protein 39 isoform 1 14 cytoplasm zinc ion binding 0 TTGCCTCTCTCTTCAACCAGA 0.577 NaN 0 0 0 0.001368 0 11 117 TRIM15 89870 broad.mit.edu 37 6 30131831 30131831 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:30131831C>T uc010jrx.2 + 1 849 c.370C>T c.(370-372)CAG>TAG p.Q124* NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 124 mesodermal cell fate determination intracellular zinc ion binding 0 CGAGGCCATTCAGCCCTACCG 0.577 NaN 0 0 0 0.010504 0 14 96 GTF2H4 2968 broad.mit.edu 37 6 30881724 30881724 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:30881724C>T uc003nsa.1 + 14 1560 c.1353C>T c.(1351-1353)GTC>GTT p.V451V GTF2H4_uc003nsb.1_Silent_p.V289V|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 451 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 ACAGCGACGTCAAGCGCTTTT 0.677 NaN NER 0 0 0 0.004482 0 7 44 CCHCR1 54535 broad.mit.edu 37 6 31110790 31110790 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:31110790G>A uc003nsr.3 - 17 2297 c.2174C>T c.(2173-2175)TCA>TTA p.S725L CCHCR1_uc011dne.1_Missense_Mutation_p.S711L|CCHCR1_uc003nsq.3_Missense_Mutation_p.S778L|CCHCR1_uc003nsp.3_Missense_Mutation_p.S814L NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 725 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 TGCAGATGCTGAACACTCTGG 0.547 NaN 0 0 0 0.00623 0 32 353 C6orf26 401251 broad.mit.edu 37 6 31731217 31731217 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:31731217G>A uc003nxa.3 + 2 199 c.140G>A c.(139-141)AGA>AAA p.R47K MSH5_uc003nwz.3_RNA NM_001039651 NP_001034740 Q5SSQ6 G7D_HUMAN hypothetical protein LOC401251 47 0 GCTCTGGAGAGAGAACAGGAT 0.592 NaN 0 0 0 0.001368 0 10 88 CYP21A2 1589 broad.mit.edu 37 6 32008204 32008204 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:32008204G>A uc003nze.1 + 8 1079 c.961G>A c.(961-963)GAG>AAG p.E321K CYP21A2_uc003nzf.1_Missense_Mutation_p.E291K NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 320 E -> K (in AH3; simple virilizing form; 4% activity). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 ACTGCAGGAGGAGCTAGACCA 0.662 NaN 0 0 0 0.004482 0 7 43 TNXB 7148 broad.mit.edu 37 6 32053680 32053680 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:32053680C>T uc003nzl.2 - 7 3197 c.2995G>A c.(2995-2997)GAG>AAG p.E999K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1086 Fibronectin type-III 3. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCCGGCCCCTCGGGCACCCGC 0.662 NaN 0 0 0 0.004878 0 26 185 AGER 177 broad.mit.edu 37 6 32150064 32150064 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:32150064G>A uc003oal.1 - 8 948 c.924C>T c.(922-924)CAC>CAT p.H308H AGER_uc003oak.1_Silent_p.H37H|AGER_uc003oar.2_Silent_p.H207H|AGER_uc011dpm.1_Silent_p.H207H|AGER_uc011dpn.1_Missense_Mutation_p.T190M|AGER_uc010jtv.1_Intron|AGER_uc011dpo.1_Intron|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Intron|AGER_uc003oap.1_Silent_p.H324H|AGER_uc003oat.1_Silent_p.H324H|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Silent_p.H294H|AGER_uc010jtw.1_Intron|AGER_uc003oas.1_Missense_Mutation_p.T291M|AGER_uc003oau.1_Silent_p.H308H|AGER_uc011dpp.1_Silent_p.H308H NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 308 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 CCTGGGGCCCGTGGCTGGAAT 0.637 NaN 0 0 0 0.00361 0 65 98 BRD2 6046 broad.mit.edu 37 6 32945290 32945290 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:32945290C>G uc003ocn.3 + 8 2973 c.1272C>G c.(1270-1272)AAC>AAG p.N424K BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.N424K|BRD2_uc003ocp.3_Missense_Mutation_p.N304K|BRD2_uc010juh.2_Missense_Mutation_p.N424K NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 424 Bromo 2. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TGTTCTCCAACTGCTATAAGT 0.488 NaN 0 0 0 0.005524 0 31 221 RPS18 6222 broad.mit.edu 37 6 33244179 33244179 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:33244179G>A uc003odp.1 + 6 440 c.395G>A c.(394-396)CGA>CAA p.R132Q RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN ribosomal protein S18 132 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome 0 CTTCGTGTCCGAGGCCAGCAC 0.493 NaN 0 0 0 0.001984 0 5 33 GRM4 2914 broad.mit.edu 37 6 34101145 34101145 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:34101145G>A uc003oir.3 - 1 299 c.129C>T c.(127-129)ATC>ATT p.I43I GRM4_uc011dsn.1_Silent_p.I43I|GRM4_uc010jvh.2_Silent_p.I43I|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 43 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CATCTATGCGGATGGAATTCA 0.617 NaN 0 0 0 0.004482 0 5 86 SNRPC 6631 broad.mit.edu 37 6 34741334 34741334 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:34741334G>A uc003ojt.1 + 6 482 c.467G>A c.(466-468)CGA>CAA p.R156Q NM_003093 NP_003084 P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 156 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding pancreas(1) 1 GGAATGACTCGACCAGACAGA 0.537 NaN 0 0 0 0.010729 0 9 115 SCUBE3 222663 broad.mit.edu 37 6 35216389 35216389 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:35216389C>T uc003okf.1 + 22 2895 c.2889C>T c.(2887-2889)TTC>TTT p.F963F SCUBE3_uc003okg.1_Silent_p.F962F|SCUBE3_uc003okh.1_Silent_p.F850F NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 963 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AGAACTACTTCAAGTACACAG 0.522 NaN 0 0 0 0.007413 0 18 115 SCUBE3 222663 broad.mit.edu 37 6 35216431 35216431 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:35216431C>A uc003okf.1 + 22 2937 c.2931C>A c.(2929-2931)TTC>TTA p.F977L SCUBE3_uc003okg.1_Missense_Mutation_p.F976L|SCUBE3_uc003okh.1_Missense_Mutation_p.F864L NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 977 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CAAAATCCTTCATCAAGCTGC 0.493 NaN 1 0 1.5739e-10 0.004007 1.66784e-10 16 89 C6orf81 221481 broad.mit.edu 37 6 35706280 35706280 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:35706280C>T uc003ola.2 + 3 537 c.510C>T c.(508-510)TTC>TTT p.F170F LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Silent_p.F143F NM_145028 NP_659465 Q5T9G4 CF081_HUMAN hypothetical protein LOC221481 143 binding ovary(1) 1 TCAGAAAATTCAGGCTCAAAA 0.458 NaN 0 0 0 0.001368 0 9 97 RNF8 9025 broad.mit.edu 37 6 37328321 37328321 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:37328321G>A uc003onq.3 + 2 404 c.211G>A c.(211-213)GAG>AAG p.E71K RNF8_uc003onr.3_Missense_Mutation_p.E71K|RNF8_uc011dtx.1_5'UTR NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 71 FHA. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 GCAGAATCCTGAGGGCCAATG 0.373 NaN 0 0 0 0.006214 0 9 62 FTSJD2 23070 broad.mit.edu 37 6 37426534 37426534 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:37426534C>T uc003ons.2 + 9 1177 c.924C>T c.(922-924)TTC>TTT p.F308F FTSJD2_uc010jwu.2_Silent_p.F252F NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 308 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CTAATGACTTCAAGCTGGAGG 0.522 NaN 0 0 0 0.008291 0 9 119 TFEB 7942 broad.mit.edu 37 6 41655745 41655745 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:41655745G>T uc003oqs.1 - 6 873 c.571C>A c.(571-573)CTG>ATG p.L191M TFEB_uc003oqt.1_Missense_Mutation_p.L191M|TFEB_uc003oqu.1_Missense_Mutation_p.L205M|TFEB_uc003oqv.1_Missense_Mutation_p.L191M|TFEB_uc010jxo.1_Missense_Mutation_p.L191M|TFEB_uc003oqr.1_Missense_Mutation_p.L106M NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 191 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TACACATTCAGGTGGCTGCTG 0.657 NaN T ALPHA renal (childhood epithelioid) 1 0 1.06801e-11 0.009535 1.13641e-11 30 153 TAF8 129685 broad.mit.edu 37 6 42034150 42034150 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:42034150C>G uc003ors.2 + 6 619 c.590C>G c.(589-591)ACA>AGA p.T197R TAF8_uc003ort.2_Missense_Mutation_p.T197R|TAF8_uc003oru.1_Missense_Mutation_p.T197R|TAF8_uc003orv.1_Missense_Mutation_p.T197R|TAF8_uc011dun.1_Missense_Mutation_p.T134R NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 197 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) ATGGCCAAGACAGGCGAGACT 0.537 NaN 0 0 0 0.004007 0 15 80 TRERF1 55809 broad.mit.edu 37 6 42236470 42236470 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:42236470C>G uc003osd.2 - 5 1422 c.859G>C c.(859-861)GAA>CAA p.E287Q TRERF1_uc011duq.1_Missense_Mutation_p.E287Q|TRERF1_uc003osb.2_Missense_Mutation_p.E126Q|TRERF1_uc003osc.2_Missense_Mutation_p.E126Q|TRERF1_uc003ose.2_Missense_Mutation_p.E287Q NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 287 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTCTGTATTTCTTGCATGGAG 0.453 NaN 0 0 0 0.007835 0 32 223 YIPF3 25844 broad.mit.edu 37 6 43481347 43481347 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:43481347G>C uc003ovl.1 - 4 577 c.420C>G c.(418-420)ATC>ATG p.I140M C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.I105M|YIPF3_uc010jyr.1_Missense_Mutation_p.I146M|YIPF3_uc010jys.1_Intron|YIPF3_uc003ovm.1_Missense_Mutation_p.I14M|YIPF3_uc010jyt.1_Intron NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 140 cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) TGACCATCTTGATAGGGATCA 0.458 NaN 0 0 0 0.009096 0 4 95 NFKBIE 4794 broad.mit.edu 37 6 44227806 44227806 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:44227806C>T uc003oxe.1 - 5 1436 c.1411G>A c.(1411-1413)GAG>AAG p.E471K SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 471 cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGGGCGTCTCATCCTCCACA 0.567 NaN 0 0 0 0.008871 0 16 103 GPR116 221395 broad.mit.edu 37 6 46851331 46851331 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:46851331G>A uc003oyo.3 - 6 866 c.577C>T c.(577-579)CTC>TTC p.L193F GPR116_uc003oyp.3_Missense_Mutation_p.L193F|GPR116_uc003oyq.3_Missense_Mutation_p.L193F|GPR116_uc003oyr.2_Missense_Mutation_p.L193F NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 193 SEA.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GACCTATAGAGGGCGGAGGAA 0.428 NaN 0 0 0 0.00308 0 6 36 TFAP2B 7021 broad.mit.edu 37 6 50805697 50805697 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:50805697G>A uc003pag.2 + 5 997 c.831G>A c.(829-831)TCG>TCA p.S277S NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 277 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) GAGCCAAATCGAAAAATGGGG 0.433 NaN 0 0 0 0.00308 0 7 85 DST 667 broad.mit.edu 37 6 56464987 56464987 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:56464987C>G uc003pdf.2 - 39 5245 c.5217G>C c.(5215-5217)GAG>GAC p.E1739D DST_uc003pcz.3_Missense_Mutation_p.E1561D|DST_uc011dxj.1_Missense_Mutation_p.E1590D|DST_uc011dxk.1_Missense_Mutation_p.E1601D|DST_uc003pcy.3_Missense_Mutation_p.E1235D|DST_uc010kaa.1_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3647 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTGGAGTTTCTCTTTATACT 0.403 NaN 0 0 0 0.00308 0 8 22 DST 667 broad.mit.edu 37 6 56479189 56479189 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:56479189C>G uc003pdf.2 - 36 4952 c.4924G>C c.(4924-4926)GAG>CAG p.E1642Q DST_uc003pcz.3_Missense_Mutation_p.E1464Q|DST_uc011dxj.1_Missense_Mutation_p.E1493Q|DST_uc011dxk.1_Missense_Mutation_p.E1504Q|DST_uc003pcy.3_Missense_Mutation_p.E1138Q|DST_uc003pdb.2_Missense_Mutation_p.E1138Q NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3540 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCAGCCTTCTCTGCATCTTTC 0.373 NaN 0 0 0 0.009096 0 4 13 KCNQ5 56479 broad.mit.edu 37 6 73843259 73843259 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:73843259G>T uc003pgk.2 + 10 1710 c.1363G>T c.(1363-1365)GAG>TAG p.E455* KCNQ5_uc011dyh.1_Nonsense_Mutation_p.E474*|KCNQ5_uc011dyi.1_Nonsense_Mutation_p.E465*|KCNQ5_uc010kat.2_Nonsense_Mutation_p.E446*|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Nonsense_Mutation_p.E205* NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 455 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CATCACAGCCGAGGGCAGTCC 0.592 NaN 1 0 0.00621372 0.006214 0.00633594 9 106 DOPEY1 23033 broad.mit.edu 37 6 83841961 83841961 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:83841961G>C uc003pjs.1 + 18 2943 c.2683G>C c.(2683-2685)GAA>CAA p.E895Q DOPEY1_uc011dyy.1_Missense_Mutation_p.E886Q|DOPEY1_uc010kbl.1_Missense_Mutation_p.E886Q NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 895 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GAAGAGTGTGGAACTATTTTA 0.368 NaN 0 0 0 0.008291 0 9 57 SNX14 57231 broad.mit.edu 37 6 86256945 86256945 + Splice_Site SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:86256945C>G uc003pkr.2 - 12 1187 c.994_splice c.e12-1 p.V332_splice SNX14_uc003pkp.2_Splice_Site_p.V195_splice|SNX14_uc003pkq.2_Splice_Site|SNX14_uc011dzg.1_Splice_Site_p.V280_splice|SNX14_uc003pks.2_Splice_Site_p.V288_splice|SNX14_uc003pkt.2_Splice_Site_p.V332_splice NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) ACTTCAGCACCTTGATATAAG 0.318 NaN 0 0 0 0.004672 0 3 18 ZNF292 23036 broad.mit.edu 37 6 87969858 87969858 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:87969858G>C uc003plm.3 + 8 6552 c.6511G>C c.(6511-6513)GAA>CAA p.E2171Q NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AACTTTGAAAGAATTTCGATG 0.368 NaN 0 0 0 0.001168 0 5 38 NR2E1 7101 broad.mit.edu 37 6 108496093 108496093 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:108496093G>A uc003psg.2 + 3 980 c.225G>A c.(223-225)CTG>CTA p.L75L NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 75 Nuclear receptor.|NR C4-type. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) CGTGTCGGCTGAAGAAGTGTT 0.483 NaN 0 0 0 0.00333 0 18 86 LAMA4 3910 broad.mit.edu 37 6 112476811 112476811 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:112476811C>T uc003pvu.2 - 15 2224 c.1915G>A c.(1915-1917)GAA>AAA p.E639K LAMA4_uc003pvv.2_Missense_Mutation_p.E632K|LAMA4_uc003pvt.2_Missense_Mutation_p.E632K NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 639 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCTGCTGTTTCATTGGCTTCA 0.388 NaN 0 0 0 0.002299 0 18 91 HDAC2 3066 broad.mit.edu 37 6 114274470 114274470 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:114274470C>T uc003pwd.1 - 6 892 c.892G>A c.(892-894)GAA>AAA p.E298K HDAC2_uc003pwc.1_Missense_Mutation_p.E174K|HDAC2_uc003pwe.1_Missense_Mutation_p.E174K NM_001527 NP_001518 Q92769 HDAC2_HUMAN histone deacetylase 2 204 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding skin(2)|ovary(1)|central_nervous_system(1) 4 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGAAAGTATTCCCCATATTTA 0.348 NaN 0 0 0 0.008871 0 17 120 RFX6 222546 broad.mit.edu 37 6 117245835 117245835 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:117245835C>G uc003pxm.2 + 15 1622 c.1559C>G c.(1558-1560)TCT>TGT p.S520C NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 520 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 AAACAAGGTTCTTTTCATTTG 0.393 NaN 0 0 0 0.001168 0 5 48 PTPRK 5796 broad.mit.edu 37 6 128410865 128410865 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:128410865C>A uc003qbk.2 - 8 1802 c.1435G>T c.(1435-1437)GAA>TAA p.E479* PTPRK_uc003qbj.2_Nonsense_Mutation_p.E479*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.E479*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.E479*|PTPRK_uc003qbl.1_Nonsense_Mutation_p.E349*|PTPRK_uc011ebv.1_Nonsense_Mutation_p.E479* NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 479 Extracellular (Potential).|Fibronectin type-III 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ATTGTCTCTTCACTCTCCTTC 0.408 NaN 1 0 0.000151284 0.001855 0.000155607 10 104 PTPRK 5796 broad.mit.edu 37 6 128505838 128505838 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:128505838G>A uc003qbk.2 - 7 1268 c.901C>T c.(901-903)CTT>TTT p.L301F PTPRK_uc003qbj.2_Missense_Mutation_p.L301F|PTPRK_uc010kfc.2_Missense_Mutation_p.L301F|PTPRK_uc011ebu.1_Missense_Mutation_p.L301F|PTPRK_uc003qbl.1_Missense_Mutation_p.L171F|PTPRK_uc011ebv.1_Missense_Mutation_p.L301F NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 301 Fibronectin type-III 1.|Extracellular (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCAACACCAAGAAGCTGAGGA 0.408 NaN 0 0 0 0.003163 0 11 23 CTGF 1490 broad.mit.edu 37 6 132271489 132271489 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:132271489C>T uc003qcz.2 - 3 690 c.484G>A c.(484-486)GAG>AAG p.E162K NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 162 VWFC. 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) ACCCACTCCTCGCAGCATTTC 0.652 NaN OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005524 0 35 213 TAAR8 83551 broad.mit.edu 37 6 132874133 132874133 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:132874133C>T uc011ecj.1 + 1 302 c.302C>T c.(301-303)GCC>GTC p.A101V NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 101 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TATTTTGGAGCCAAATTTTGT 0.468 NaN 0 0 0 0.004482 0 9 55 CCDC28A 25901 broad.mit.edu 37 6 139101069 139101069 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:139101069G>C uc003qie.2 + 3 694 c.539G>C c.(538-540)AGA>ACA p.R180T NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 180 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GAGATGGAGAGAGGGCTGCTC 0.443 NaN 0 0 0 0.006122 0 12 60 ECT2L 345930 broad.mit.edu 37 6 139186275 139186275 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:139186275C>T uc003qif.1 + 10 1537 c.1434C>T c.(1432-1434)TTC>TTT p.F478F ECT2L_uc011edq.1_Silent_p.F409F NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 478 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TGTATCCTTTCTTCAAGGAAC 0.443 NaN 0 0 0 0.000602 0 3 38 TXLNB 167838 broad.mit.edu 37 6 139564283 139564283 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:139564283C>G uc011eds.1 - 10 1600 c.1435G>C c.(1435-1437)GAG>CAG p.E479Q NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 479 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) ACGTTTGACTCTGGCTCTTCA 0.433 NaN 0 0 0 0.008871 0 14 78 UTRN 7402 broad.mit.edu 37 6 144858794 144858794 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:144858794G>A uc003qkt.2 + 43 6402 c.6310G>A c.(6310-6312)GAG>AAG p.E2104K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2104 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACAAAGGCTGAGCATGCTAT 0.368 NaN 0 0 0 0.001168 0 4 42 FBXO30 84085 broad.mit.edu 37 6 146127160 146127160 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:146127160C>G uc003qla.2 - 2 581 c.382G>C c.(382-384)GAC>CAC p.D128H uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 128 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) ATCCTTTGGTCTTGAAGAGCC 0.408 NaN 0 0 0 0.004482 0 8 33 SYNE1 23345 broad.mit.edu 37 6 152651320 152651320 + Nonsense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:152651320G>A uc010kiw.2 - 78 15102 c.14500C>T c.(14500-14502)CGA>TGA p.R4834* SYNE1_uc003qot.3_Nonsense_Mutation_p.R4763*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R4834*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.R589* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4834 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGGTTACTCGTTTCAGTACA 0.498 NaN HNSCC(10;0.0054) 0 0 0 0.001368 0 9 39 SYNE1 23345 broad.mit.edu 37 6 152651534 152651534 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:152651534C>T uc010kiw.2 - 78 14888 c.14286G>A c.(14284-14286)CTG>CTA p.L4762L SYNE1_uc003qot.3_Silent_p.L4691L|SYNE1_uc003qou.3_Silent_p.L4762L|SYNE1_uc010kiz.2_Silent_p.L517L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4762 Spectrin 14.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTGTCGCTTCAGCCTGTGAT 0.483 NaN HNSCC(10;0.0054) 0 0 0 0.009096 0 4 61 IGF2R 3482 broad.mit.edu 37 6 160477479 160477479 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:160477479C>G uc003qta.2 + 20 2866 c.2718C>G c.(2716-2718)CTC>CTG p.L906L NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 906 6.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TCTTTTCTCTCAACTGGGAGT 0.488 NaN 0 0 0 0.012319 0 19 137 IGF2R 3482 broad.mit.edu 37 6 160479137 160479137 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:160479137G>C uc003qta.2 + 21 3027 c.2879G>C c.(2878-2880)GGC>GCC p.G960A NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 960 7.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AACGTCTCTGGCATTGGGAAG 0.418 NaN 0 0 0 0.001368 0 10 68 T 6862 broad.mit.edu 37 6 166580899 166580899 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:166580899C>G uc003quu.1 - 2 674 c.181G>C c.(181-183)GAG>CAG p.E61Q T_uc003qut.1_Missense_Mutation_p.E61Q|T_uc003quv.1_Missense_Mutation_p.E61Q NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 61 T-box. anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) ACGATCATCTCATTGGTGAGC 0.701 NaN Chordoma_Familial_Clustering_of 0 0 0 0.010729 0 8 77 ZFAND2A 90637 broad.mit.edu 37 7 1197336 1197336 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:1197336G>T uc003skc.2 - 3 407 c.106C>A c.(106-108)CAT>AAT p.H36N ZFAND2A_uc003skd.3_Missense_Mutation_p.H36N|uc003skf.1_5'Flank NM_182491 NP_872297 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 36 AN1-type 1. cytoplasm|nucleus zinc ion binding ovary(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) TATGGAAAATGATCTTTACAG 0.328 NaN 1 0 1.55811e-20 0.008361 1.68276e-20 25 276 INTS1 26173 broad.mit.edu 37 7 1515921 1515921 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:1515921C>G uc003skn.2 - 38 5423 c.5322G>C c.(5320-5322)GAG>GAC p.E1774D INTS1_uc003skm.1_5'Flank NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1774 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCCTGACACTCTCATCGTCCC 0.692 NaN 0 0 0 0.001984 0 5 23 INTS1 26173 broad.mit.edu 37 7 1521036 1521036 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:1521036G>A uc003skn.2 - 28 3893 c.3792C>T c.(3790-3792)TTC>TTT p.F1264F NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1264 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCTGGTCCAGGAACTGGAGGA 0.612 NaN 0 0 0 0.00308 0 7 107 ACTB 60 broad.mit.edu 37 7 5569265 5569265 + Silent SNP G G T rs151181948 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:5569265G>T uc003sos.3 - 1 60 c.24C>A c.(22-24)CTC>CTA p.L8L ACTB_uc003sor.3_5'Flank|ACTB_uc003sot.3_Silent_p.L8L|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron|ACTB_uc011jwi.1_5'Flank NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 8 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGTCGACGACGAGCGCGGCGA 0.721 NaN 1 0 1.75199e-13 0.007291 1.87032e-13 20 125 FSCN1 6624 broad.mit.edu 37 7 5633134 5633134 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:5633134G>C uc003sou.2 + 1 681 c.567G>C c.(565-567)CAG>CAC p.Q189H NM_003088 NP_003079 Q16658 FSCN1_HUMAN fascin 1 189 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging ovary(1) 1 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) ACAGCGTGCAGACCGCCGACC 0.741 NaN 0 0 0 0.001984 0 5 59 C7orf28A 51622 broad.mit.edu 37 7 5949692 5949692 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:5949692G>C uc003spf.2 + 8 815 c.725G>C c.(724-726)AGA>ACA p.R242T NM_015622 NP_056437 P86791 CCZ1_HUMAN hypothetical protein LOC51622 242 lysosomal membrane 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15) GATGACATGAGAATTTTATAC 0.438 NaN 0 0 0 0.010729 0 8 32 USP42 84132 broad.mit.edu 37 7 6189333 6189333 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:6189333C>T uc011jwo.1 + 13 1629 c.1506C>T c.(1504-1506)GTC>GTT p.V502V USP42_uc010kth.1_Silent_p.V435V|USP42_uc011jwp.1_Silent_p.V502V|USP42_uc011jwq.1_Silent_p.V309V|USP42_uc011jwr.1_Silent_p.V347V NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 502 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAGCTTCTGTCCAAAACTGGT 0.453 NaN 0 0 0 0.008291 0 10 113 ZDHHC4 55146 broad.mit.edu 37 7 6624735 6624735 + Silent SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:6624735C>A uc003sqi.2 + 8 943 c.585C>A c.(583-585)CTC>CTA p.L195L ZDHHC4_uc003sql.2_Silent_p.L195L|ZDHHC4_uc003sqh.2_Silent_p.L195L|ZDHHC4_uc003sqj.2_Silent_p.L195L|ZDHHC4_uc003sqk.2_Silent_p.L195L|ZDHHC4_uc003sqm.2_Silent_p.L195L NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 195 DHHC-type.|Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GGTACTTCCTCATCTACGTCT 0.527 NaN 1 0 2.44723e-14 0.004656 2.61684e-14 20 81 ZNF12 7559 broad.mit.edu 37 7 6730899 6730899 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:6730899G>A uc003sqt.1 - 5 2228 c.1674C>T c.(1672-1674)TTC>TTT p.F558F ZNF12_uc011jxa.1_Silent_p.F396F|ZNF12_uc003sqs.1_Silent_p.F520F NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 558 C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) ACATCTGAGAGAAGAATTTTC 0.413 NaN 0 0 0 0.004672 0 3 28 ZNF12 7559 broad.mit.edu 37 7 6732258 6732258 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:6732258G>A uc003sqt.1 - 5 869 c.315C>T c.(313-315)TTC>TTT p.F105F ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Silent_p.F105F NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 105 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GGGTCTCAATGAACACAGTTT 0.363 NaN 0 0 0 0.006122 0 16 125 C7orf28B 221960 broad.mit.edu 37 7 6854450 6854450 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:6854450C>G uc003sqx.1 - 8 758 c.725G>C c.(724-726)AGA>ACA p.R242T C7orf28B_uc011jxd.1_Missense_Mutation_p.R99T NM_198097 NP_932765 P86791 CCZ1_HUMAN hypothetical protein LOC221960 242 lysosomal membrane 0 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.175) GTATAAAATTCTCATGTCATC 0.438 NaN 0 0 0 0.002299 0 17 201 ICA1 3382 broad.mit.edu 37 7 8198207 8198207 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:8198207G>A uc003srm.2 - 7 722 c.655C>T c.(655-657)CTT>TTT p.L219F ICA1_uc010ktr.2_Missense_Mutation_p.L219F|ICA1_uc003srl.2_Missense_Mutation_p.L207F|ICA1_uc003srn.3_Missense_Mutation_p.L145F|ICA1_uc003srp.3_Missense_Mutation_p.L218F|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L219F|ICA1_uc003srr.2_Missense_Mutation_p.L218F|ICA1_uc003sro.3_Missense_Mutation_p.L219F|ICA1_uc011jxg.1_Missense_Mutation_p.L219F|ICA1_uc003srs.1_Missense_Mutation_p.L219F NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 219 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CTCGCTCCAAGAAGATCCACT 0.373 NaN 0 0 0 0.009096 0 4 58 IL6 3569 broad.mit.edu 37 7 22771127 22771127 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:22771127C>T uc011jyn.1 + 6 1033 c.574C>T c.(574-576)CAT>TAT p.H192Y IL6_uc003svj.3_Missense_Mutation_p.H192Y NM_000600 NP_000591 P05231 IL6_HUMAN interleukin 6 precursor 192 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding 0 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) CATGACAACTCATCTCATTCT 0.512 NaN 0 0 0 0.000602 0 5 50 TAX1BP1 8887 broad.mit.edu 37 7 27856100 27856100 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:27856100C>G uc003szl.2 + 14 2055 c.1897C>G c.(1897-1899)CTG>GTG p.L633V TAX1BP1_uc011jzo.1_Intron|TAX1BP1_uc003szk.2_Intron|TAX1BP1_uc011jzp.1_Intron NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 633 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) ACAACCAGTTCTGCAATATGG 0.363 NaN 0 0 0 0.00333 0 20 91 TRIL 9865 broad.mit.edu 37 7 28996953 28996953 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:28996953G>A uc003szt.2 - 3 1077 c.710C>T c.(709-711)TCG>TTG p.S237L uc003szu.1_5'Flank NM_014817 NP_055632 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine rich repeats 237 Extracellular (Potential).|LRR 8. inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding 0 GTTGTTGGCCGAGAGGATGAG 0.677 NaN 0 0 0 0.006122 0 17 148 NOD1 10392 broad.mit.edu 37 7 30492526 30492526 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:30492526G>A uc003tav.2 - 6 1030 c.507C>T c.(505-507)TTC>TTT p.F169F NOD1_uc010kvs.2_Silent_p.F169F NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 169 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TCTCATTGCTGAAGCCAACCA 0.587 NaN 0 0 0 0.002299 0 18 169 BBS9 27241 broad.mit.edu 37 7 33392470 33392470 + Splice_Site SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:33392470G>C uc003tdn.1 + 15 2051 c.1538_splice c.e15-1 p.D513_splice BBS9_uc003tdo.1_Splice_Site_p.N478_splice|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_Splice_Site_p.D37_splice|BBS9_uc003tds.1_Splice_Site|BBS9_uc011kao.1_Splice_Site_p.D391_splice NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) GTGATGGACAGATCGAAATCC 0.323 NaN Bardet-Biedl_syndrome 0 0 0 0.001855 0 11 48 HERPUD2 64224 broad.mit.edu 37 7 35674914 35674914 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:35674914G>C uc003tet.2 - 6 1577 c.772C>G c.(772-774)CAA>GAA p.Q258E HERPUD2_uc003tes.3_Missense_Mutation_p.Q258E NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 258 response to unfolded protein integral to membrane ovary(3) 3 GCATTCATTTGAACATTCTCA 0.468 NaN 0 0 0 0.005443 0 24 170 GCK 2645 broad.mit.edu 37 7 44193018 44193018 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:44193018C>T uc003tkl.2 - 2 560 c.90G>A c.(88-90)CTG>CTA p.L30L GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 30 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 TCACCTTCTTCAGGTCCTCCT 0.632 NaN 0 0 0 0.00361 0 54 480 CAMK2B 816 broad.mit.edu 37 7 44259671 44259671 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:44259671G>A uc003tkq.2 - 23 2201 c.1991C>T c.(1990-1992)CCG>CTG p.P664L CAMK2B_uc003tkp.2_Missense_Mutation_p.P540L|CAMK2B_uc003tkx.2_Missense_Mutation_p.P500L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.P516L|CAMK2B_uc003tks.2_Missense_Mutation_p.P515L|CAMK2B_uc003tku.2_Missense_Mutation_p.P501L|CAMK2B_uc003tkv.2_Missense_Mutation_p.P477L|CAMK2B_uc003tkt.2_Missense_Mutation_p.P490L|CAMK2B_uc003tkw.2_Missense_Mutation_p.P447L|CAMK2B_uc010kyc.2_Missense_Mutation_p.P540L|CAMK2B_uc003tkn.2_Missense_Mutation_p.P297L NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 664 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 TCACTGCAGCGGGGCCACAGG 0.692 NaN 0 0 0 0.000602 0 4 19 CAMK2B 816 broad.mit.edu 37 7 44281927 44281927 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:44281927C>T uc003tkq.2 - 10 919 c.709G>A c.(709-711)GAG>AAG p.E237K CAMK2B_uc003tkp.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkx.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.E237K|CAMK2B_uc003tks.2_Missense_Mutation_p.E237K|CAMK2B_uc003tku.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkv.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkt.2_Missense_Mutation_p.E237K|CAMK2B_uc003tkw.2_Missense_Mutation_p.E237K|CAMK2B_uc010kyc.2_Missense_Mutation_p.E237K NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 237 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 GTGTCCCACTCAGGGGACGGG 0.607 NaN 0 0 0 0.006122 0 16 127 ABCA13 154664 broad.mit.edu 37 7 48311969 48311969 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:48311969C>G uc003toq.2 + 17 2731 c.2706C>G c.(2704-2706)CTC>CTG p.L902L ABCA13_uc010kyr.2_Silent_p.L405L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 902 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TAACTAGTCTCCATGAATTTG 0.393 NaN 0 0 0 0.008291 0 10 33 ABCA13 154664 broad.mit.edu 37 7 48318381 48318381 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:48318381G>C uc003toq.2 + 18 7615 c.7590G>C c.(7588-7590)AAG>AAC p.K2530N ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2530 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AGCTGGTCAAGAAAGTTTCGG 0.413 NaN 0 0 0 0.00361 0 41 113 HIP1 3092 broad.mit.edu 37 7 75172284 75172284 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:75172284C>T uc003uds.1 - 28 2817 c.2776G>A c.(2776-2778)GAT>AAT p.D926N HIP1_uc011kfz.1_Missense_Mutation_p.D752N NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 926 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CTGTCCTTATCAGCTTTCACC 0.507 NaN T PDGFRB CMML 0 0 0 0.004007 0 12 78 HIP1 3092 broad.mit.edu 37 7 75172291 75172291 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:75172291C>T uc003uds.1 - 28 2810 c.2769G>A c.(2767-2769)GTG>GTA p.V923V HIP1_uc011kfz.1_Silent_p.V749V NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 923 Important for actin binding (By similarity).|I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 TATCAGCTTTCACCTACCAGG 0.522 NaN T PDGFRB CMML 0 0 0 0.00245 0 10 79 SRCRB4D 136853 broad.mit.edu 37 7 76027118 76027118 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:76027118C>T uc003ufb.2 - 6 933 c.585G>A c.(583-585)GCG>GCA p.A195A ZP3_uc003ufc.3_Intron NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 195 SRCR 2. extracellular region|membrane scavenger receptor activity pancreas(1) 1 GACACAGGTTCGCGCCCCCTA 0.706 NaN 0 0 0 0.000602 0 4 30 AKAP9 10142 broad.mit.edu 37 7 91631200 91631200 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:91631200G>C uc003ulg.2 + 8 2194 c.1969G>C c.(1969-1971)GAT>CAT p.D657H AKAP9_uc003ule.2_Missense_Mutation_p.D669H|AKAP9_uc003ulf.2_Missense_Mutation_p.D657H|AKAP9_uc003uli.2_Missense_Mutation_p.D282H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 669 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAACTTAAAGATAATTTAGG 0.323 NaN T BRAF papillary thyroid 0 0 0 0.000602 0 4 21 AKAP9 10142 broad.mit.edu 37 7 91722446 91722446 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:91722446C>G uc003ulg.2 + 39 9619 c.9394C>G c.(9394-9396)CAA>GAA p.Q3132E AKAP9_uc003ulf.2_Missense_Mutation_p.Q3124E|AKAP9_uc003uli.2_Missense_Mutation_p.Q2755E|AKAP9_uc003ulj.2_Missense_Mutation_p.Q902E|AKAP9_uc003ull.2_Missense_Mutation_p.Q28E NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3136 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAAGCAGTCTCAAATGCTGGA 0.378 NaN T BRAF papillary thyroid 0 0 0 0.00308 0 6 36 ANKIB1 54467 broad.mit.edu 37 7 92027928 92027928 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:92027928G>C uc003ulw.2 + 20 3311 c.2935G>C c.(2935-2937)GAC>CAC p.D979H ANKIB1_uc010lew.1_Missense_Mutation_p.D248H NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 979 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGGTTTCATGACATGAACCC 0.478 NaN 0 0 0 0.003954 0 20 96 PEX1 5189 broad.mit.edu 37 7 92118624 92118624 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:92118624C>A uc003uly.2 - 23 3846 c.3750G>T c.(3748-3750)TGG>TGT p.W1250C PEX1_uc011khr.1_Missense_Mutation_p.W1042C|PEX1_uc010ley.2_Missense_Mutation_p.W1193C|PEX1_uc011khs.1_Missense_Mutation_p.W928C NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 1250 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CAAAATTCTTCCAGTCATCTT 0.378 NaN 1 0 3.59834e-05 0.001168 3.71589e-05 5 25 PEX1 5189 broad.mit.edu 37 7 92147127 92147127 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:92147127C>T uc003uly.2 - 5 798 c.702G>A c.(700-702)GAG>GAA p.E234E PEX1_uc011khr.1_Silent_p.E26E|PEX1_uc010ley.2_Silent_p.E234E|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 234 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CAACTGGAATCTCTGACTCGT 0.373 NaN 0 0 0 0.004672 0 3 23 CALCR 799 broad.mit.edu 37 7 93055834 93055834 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:93055834C>T uc003umv.1 - 15 1622 c.1361G>A c.(1360-1362)CGC>CAC p.R454H CALCR_uc011kia.1_Missense_Mutation_p.R234H|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R420H|CALCR_uc003umw.2_Missense_Mutation_p.R420H NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 436 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTTGGAGGGGCGCCTCCCCCA 0.562 NaN 0 0 0 0.010729 0 10 79 LMTK2 22853 broad.mit.edu 37 7 97821789 97821789 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:97821789C>T uc003upd.1 + 11 2305 c.2012C>T c.(2011-2013)TCC>TTC p.S671F NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 671 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ACTTTAAGTTCCAGTTTGGAT 0.413 NaN 0 0 0 0.007413 0 17 99 CYP3A4 1576 broad.mit.edu 37 7 99364028 99364028 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:99364028C>T uc003urv.1 - 9 941 c.837G>A c.(835-837)CAG>CAA p.Q279Q CYP3A4_uc003urw.1_Silent_p.Q278Q|CYP3A4_uc011kiz.1_Silent_p.Q238Q|CYP3A4_uc011kja.1_Silent_p.Q230Q|CYP3A4_uc011kjb.1_Silent_p.Q129Q NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 279 Q -> HK (in Ref. 1; BAA00001/AAA35742). alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTTTTGAATTCTGAGAGTCAA 0.448 NaN 0 0 0 0.001984 0 5 32 ZSCAN21 7589 broad.mit.edu 37 7 99654714 99654714 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:99654714G>A uc003uso.2 + 2 229 c.85G>A c.(85-87)GAG>AAG p.E29K ZSCAN21_uc011kje.1_Missense_Mutation_p.E28K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E28K NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 29 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GGTAAAAGTCGAGGAGAAAGA 0.557 NaN 0 0 0 0.002299 0 22 111 GATS 352954 broad.mit.edu 37 7 99869490 99869490 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:99869490G>C uc003uua.3 - 1 366 c.117C>G c.(115-117)ATC>ATG p.I39M GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc010lgu.2_RNA NM_178831 NP_849153 Q8NAP1 GATS_HUMAN GATS, stromal antigen 3 opposite strand 39 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGGCAAGTTTGATCAGGCCCG 0.677 NaN 0 0 0 0.006122 0 15 122 MOSPD3 64598 broad.mit.edu 37 7 100212805 100212805 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:100212805G>A uc003uvq.2 + 6 909 c.707G>A c.(706-708)TGA>TAA p.*236* MOSPD3_uc003uvr.2_Silent_p.*236*|MOSPD3_uc003uvs.2_Silent_p.*236*|MOSPD3_uc003uvt.2_Silent_p.*226* NM_001040097 NP_001035186 O75425 MSPD3_HUMAN motile sperm domain containing 3 isoform a 236 integral to membrane structural molecule activity ovary(2) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTCCGGACCTGAGCTCCGTGC 0.622 NaN 0 0 0 0.012319 0 16 103 EPHB4 2050 broad.mit.edu 37 7 100404054 100404054 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:100404054C>T uc003uwn.1 - 14 2963 c.2472G>A c.(2470-2472)ATG>ATA p.M824I EPHB4_uc003uwm.1_Missense_Mutation_p.M731I|EPHB4_uc010lhj.1_Missense_Mutation_p.M824I NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 824 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) CCTGATTGCTCATGTCCCAGT 0.547 NaN 0 0 0 0.012319 0 18 78 PSMC2 5701 broad.mit.edu 37 7 103008184 103008184 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:103008184C>T uc003vbs.2 + 11 1142 c.1072C>T c.(1072-1074)CAC>TAC p.H358Y SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.H221Y NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 358 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 ATTTAAGATTCACGCTCGTTC 0.338 NaN 0 0 0 0.001855 0 13 48 LAMB1 3912 broad.mit.edu 37 7 107599732 107599732 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:107599732C>T uc003vew.2 - 20 2987 c.2652G>A c.(2650-2652)TTG>TTA p.L884L LAMB1_uc003vev.2_Silent_p.L908L NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 884 Laminin EGF-like 8. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGGCAGTTCAAGCACTCCC 0.542 NaN 0 0 0 0.013114 0 35 238 DOCK4 9732 broad.mit.edu 37 7 111509670 111509670 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:111509670G>A uc003vfx.2 - 21 2338 c.2069C>T c.(2068-2070)ACA>ATA p.T690I DOCK4_uc003vfw.2_Missense_Mutation_p.T131I|DOCK4_uc003vfy.2_Missense_Mutation_p.T690I|DOCK4_uc003vga.1_Missense_Mutation_p.T295I NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 690 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTCTGCTTCTGTGATCCGGTC 0.423 NaN 0 0 0 0.00499 0 12 47 PTPRZ1 5803 broad.mit.edu 37 7 121652246 121652246 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:121652246G>A uc003vjy.2 + 12 3541 c.3146G>A c.(3145-3147)GGA>GAA p.G1049E PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1049 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ATAATATATGGAAATGAGACT 0.333 NaN 0 0 0 0.000602 0 4 20 TAS2R16 50833 broad.mit.edu 37 7 122635052 122635052 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:122635052C>T uc003vkl.1 - 1 703 c.637G>A c.(637-639)GGT>AGT p.G213S NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 213 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 TTGCAGTGACCAGTGCTATGA 0.463 NaN 0 0 0 0.006214 0 7 44 FLNC 2318 broad.mit.edu 37 7 128490515 128490515 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:128490515G>A uc003vnz.3 + 32 5585 c.5376G>A c.(5374-5376)GCG>GCA p.A1792A FLNC_uc003voa.3_Silent_p.A1759A NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1792 Filamin 16. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCCCCTTCGCGGTGCAGAAAG 0.527 NaN 0 0 0 0.010818 0 27 142 CPA2 1358 broad.mit.edu 37 7 129912983 129912983 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:129912983C>T uc003vpq.2 + 5 471 c.452C>T c.(451-453)TCT>TTT p.S151F CPA2_uc011kpc.1_Missense_Mutation_p.S151F NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 151 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) AATATTGGCTCTTCTTTTGAG 0.473 NaN 0 0 0 0.004482 0 7 53 OR2F2 135948 broad.mit.edu 37 7 143632802 143632802 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:143632802G>A uc011ktv.1 + 1 477 c.477G>A c.(475-477)CAG>CAA p.Q159Q NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CTCTTGTGCAGACTGCTATCA 0.527 NaN 0 0 0 0.00499 0 14 93 GIMAP6 474344 broad.mit.edu 37 7 150327201 150327201 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:150327201G>C uc003whn.2 - 2 454 c.30C>G c.(28-30)CCC>CCG p.P10P GIMAP6_uc003whm.2_Missense_Mutation_p.P5R NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 10 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATTCTCCTGGGGAATTTGTT 0.423 NaN 0 0 0 0.012319 0 20 136 GIMAP5 55340 broad.mit.edu 37 7 150439547 150439547 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr7:150439547C>G uc003whr.1 + 3 672 c.320C>G c.(319-321)TCT>TGT p.S107C GIMAP5_uc010lpu.2_5'UTR NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 107 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TACCTGCTCTCTGCCCCGGGG 0.582 NaN 0 0 0 0.00499 0 12 117 RP1L1 94137 broad.mit.edu 37 8 10468839 10468839 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:10468839G>A uc003wtc.2 - 4 2998 c.2769C>T c.(2767-2769)TCC>TCT p.S923S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 923 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCTTCTCCTCGGACAGCCCCC 0.697 NaN 0 0 0 0.00308 0 7 44 XPO7 23039 broad.mit.edu 37 8 21848409 21848409 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:21848409C>T uc003xaa.3 + 18 2122 c.2020C>T c.(2020-2022)CGT>TGT p.R674C XPO7_uc010lti.2_Missense_Mutation_p.R683C|XPO7_uc010ltk.2_Missense_Mutation_p.R675C NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 674 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) AGCACTTGGGCGTCTCCTCAT 0.418 NaN 0 0 0 0.008361 0 23 173 FAM160B2 64760 broad.mit.edu 37 8 21958231 21958231 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:21958231G>A uc011kyx.1 + 11 1519 c.1468G>A c.(1468-1470)GAG>AAG p.E490K FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 490 0 ACCAGAGCCTGAGAGCTATGA 0.617 NaN 0 0 0 0.003271 0 29 176 PRKDC 5591 broad.mit.edu 37 8 48690357 48690357 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:48690357C>T uc003xqi.2 - 85 11989 c.11932G>A c.(11932-11934)GGC>AGC p.G3978S PRKDC_uc003xqj.2_Missense_Mutation_p.G3947S|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3978 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TACATAAGGCCCGTTTCTTTC 0.498 NaN NHEJ 0 0 0 0.001855 0 13 102 PRKDC 5591 broad.mit.edu 37 8 48772207 48772207 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:48772207C>T uc003xqi.2 - 47 6229 c.6172G>A c.(6172-6174)GAC>AAC p.D2058N PRKDC_uc003xqj.2_Missense_Mutation_p.D2058N|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2058 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGTCTAGGGTCTTGGGAGCTG 0.443 NaN NHEJ 0 0 0 0.012213 0 23 173 LYN 4067 broad.mit.edu 37 8 56922538 56922538 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:56922538G>C uc003xsk.3 + 13 1690 c.1408G>C c.(1408-1410)GAT>CAT p.D470H LYN_uc003xsl.3_Missense_Mutation_p.D449H NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 470 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) GAACTGCCCAGATGAGCTCTA 0.483 NaN 0 0 0 0.008291 0 10 73 ASPH 444 broad.mit.edu 37 8 62438579 62438579 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:62438579C>T uc003xuj.2 - 22 2126 c.1857G>A c.(1855-1857)CTG>CTA p.L619L ASPH_uc011leg.1_Silent_p.L590L NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 619 Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTTTTTCCCTCAGGTTTTCAT 0.493 NaN 0 0 0 0.004482 0 7 55 VCPIP1 80124 broad.mit.edu 37 8 67547599 67547599 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:67547599C>T uc003xwn.2 - 3 3065 c.2806G>A c.(2806-2808)GAT>AAT p.D936N NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 936 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TGCTTGCCATCAGCCATACCT 0.323 NaN 0 0 0 0.006214 0 6 36 SULF1 23213 broad.mit.edu 37 8 70515500 70515500 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:70515500G>A uc010lza.1 + 11 1852 c.1135G>A c.(1135-1137)GAT>AAT p.D379N SULF1_uc003xyd.2_Missense_Mutation_p.D379N|SULF1_uc003xye.2_Missense_Mutation_p.D379N|SULF1_uc003xyf.2_Missense_Mutation_p.D379N|SULF1_uc003xyg.2_Missense_Mutation_p.D379N|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 379 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CACACCTCCTGATGTGGACGG 0.542 NaN 0 0 0 0.007291 0 29 110 SLCO5A1 81796 broad.mit.edu 37 8 70585257 70585257 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:70585257G>A uc003xyl.2 - 10 3101 c.2394C>T c.(2392-2394)TTC>TTT p.F798F SLCO5A1_uc010lzb.2_Silent_p.F743F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 798 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCTGGGTGCTGAAAGCTGGGC 0.577 NaN 0 0 0 0.001368 0 11 135 C8orf84 157869 broad.mit.edu 37 8 73979650 73979650 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:73979650G>C uc003xzf.2 - 5 926 c.721C>G c.(721-723)CAA>GAA p.Q241E NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN RPE-spondin precursor 241 immune response extracellular region polysaccharide binding|scavenger receptor activity 0 CAAGTTCCTTGACACCGAGGA 0.373 NaN 0 0 0 0.004482 0 6 80 JPH1 56704 broad.mit.edu 37 8 75227753 75227753 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:75227753G>C uc003yae.2 - 2 522 c.482C>G c.(481-483)ACC>AGC p.T161S JPH1_uc003yaf.2_Missense_Mutation_p.T161S|JPH1_uc003yag.1_Missense_Mutation_p.T25S NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 161 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GGCCAGCGAGGTACGCAGCGG 0.731 NaN 0 0 0 0.00308 0 5 48 E2F5 1875 broad.mit.edu 37 8 86121423 86121423 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:86121423C>T uc003ycz.3 + 6 699 c.662C>T c.(661-663)TCA>TTA p.S221L E2F5_uc003yda.3_Missense_Mutation_p.S221L|E2F5_uc010mab.2_Missense_Mutation_p.S60L|E2F5_uc003ydb.3_Missense_Mutation_p.S40L NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 221 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 AAGAGTCATTCAGGACCTATC 0.393 NaN 0 0 0 0.001984 0 5 38 DECR1 1666 broad.mit.edu 37 8 91029411 91029411 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:91029411C>G uc003yek.1 + 2 270 c.129C>G c.(127-129)TTC>TTG p.F43L DECR1_uc011lgc.1_Missense_Mutation_p.F34L|DECR1_uc011lgd.1_Intron NM_001359 NP_001350 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1 precursor 43 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH 0 BRCA - Breast invasive adenocarcinoma(11;0.00953) AATCTAAATTCTTTTCACCTC 0.333 NaN 0 0 0 0.001168 0 6 32 TMEM67 91147 broad.mit.edu 37 8 94767349 94767349 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:94767349G>C uc011lgk.1 + 1 278 c.207G>C c.(205-207)CAG>CAC p.Q69H TMEM67_uc010mau.2_Missense_Mutation_p.Q69H|TMEM67_uc010mav.2_Missense_Mutation_p.Q69H|TMEM67_uc010mat.1_5'UTR|TMEM67_uc010maw.2_Missense_Mutation_p.Q69H|TMEM67_uc003yga.3_5'UTR NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 69 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GAGCTAACCAGAGGCAAGATG 0.527 NaN 0 0 0 0.003954 0 19 196 INTS8 55656 broad.mit.edu 37 8 95892357 95892357 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:95892357C>T uc003yhb.2 + 27 3009 c.2883C>T c.(2881-2883)ATC>ATT p.I961I INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.I771I NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 961 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TCAAAGCCATCGGCCAGACAG 0.388 NaN 0 0 0 0.00308 0 5 76 TSPYL5 85453 broad.mit.edu 37 8 98288992 98288992 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:98288992C>T uc003yhy.2 - 1 1185 c.1081G>A c.(1081-1083)GAG>AAG p.E361K NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 361 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) TTGTCAGACTCAATGGAGCTG 0.478 NaN 0 0 0 0.010504 0 19 153 POP1 10940 broad.mit.edu 37 8 99135698 99135698 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:99135698C>G uc003yij.3 + 2 233 c.133C>G c.(133-135)CAA>GAA p.Q45E POP1_uc011lgv.1_Missense_Mutation_p.Q45E|POP1_uc003yik.2_Missense_Mutation_p.Q45E NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 45 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TTTCCAAGCTCAAAAACAAGG 0.274 NaN 0 0 0 0.000602 0 4 22 POP1 10940 broad.mit.edu 37 8 99170408 99170408 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:99170408C>T uc003yij.3 + 16 3084 c.2984C>T c.(2983-2985)TCC>TTC p.S995F POP1_uc011lgv.1_Missense_Mutation_p.S995F|POP1_uc003yik.2_Missense_Mutation_p.S995F NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 995 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GATATGCTGTCCAGCCAGCCT 0.547 NaN 0 0 0 0.007413 0 20 167 KCNS2 3788 broad.mit.edu 37 8 99440621 99440621 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:99440621G>C uc003yin.2 + 2 764 c.414G>C c.(412-414)CAG>CAC p.Q138H NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 138 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GGGACGAGCAGAGTGACCAGG 0.577 NaN 0 0 0 0.001984 0 5 57 RGS22 26166 broad.mit.edu 37 8 101014551 101014551 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:101014551C>G uc003yjb.1 - 18 2864 c.2669G>C c.(2668-2670)AGA>ACA p.R890T RGS22_uc003yja.1_Missense_Mutation_p.R709T|RGS22_uc003yjc.1_Missense_Mutation_p.R878T|RGS22_uc011lgz.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 890 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GTAAGTTATTCTCCGGAACTG 0.323 NaN 0 0 0 0.00308 0 6 29 PKHD1L1 93035 broad.mit.edu 37 8 110510690 110510690 + Splice_Site SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:110510690G>C uc003yne.2 + 66 10704 c.10600_splice c.e66-1 p.S3534_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTCCAAACAGAGCTCATTAA 0.289 NaN HNSCC(38;0.096) 0 0 0 0.008291 0 11 39 COL14A1 7373 broad.mit.edu 37 8 121383405 121383405 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:121383405C>T uc003yox.2 + 48 5591 c.5326C>T c.(5326-5328)CAG>TAG p.Q1776* NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1776 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCATCCAGATCAGCCAGAGTT 0.522 NaN 0 0 0 0.004656 0 18 199 MTBP 27085 broad.mit.edu 37 8 121514760 121514760 + Silent SNP A A G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:121514760A>G uc003ypc.1 + 15 1683 c.1638A>G c.(1636-1638)TCA>TCG p.S546S NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 546 Interaction with MDM2 (By similarity). cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) CTAATTCCTCAAGTCTAATGG 0.299 NaN 0 0 0 0.004672 0 3 14 RNF139 11236 broad.mit.edu 37 8 125487428 125487428 + Silent SNP C C G rs147204700 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:125487428C>G uc003yrc.2 + 1 421 c.78C>G c.(76-78)CTC>CTG p.L26L uc003yrb.2_5'Flank NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 26 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAGTGGCGCTCCGGGTGCCCT 0.662 NaN Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 0 0 0 0.00245 0 12 102 RNF139 11236 broad.mit.edu 37 8 125487452 125487452 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:125487452C>G uc003yrc.2 + 1 445 c.102C>G c.(100-102)ATC>ATG p.I34M uc003yrb.2_5'Flank NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 34 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTTACATCATCGACGCCATCT 0.637 NaN Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 0 0 0 0.004656 0 20 169 RNF139 11236 broad.mit.edu 37 8 125487527 125487527 + Silent SNP C C G rs142523795 TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:125487527C>G uc003yrc.2 + 1 520 c.177C>G c.(175-177)CTC>CTG p.L59L uc003yrb.2_5'Flank NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 59 Helical; (Potential). negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TCCTCCGGCTCTTTGGTAAGG 0.627 NaN Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 0 0 0 0.010504 0 16 167 EFR3A 23167 broad.mit.edu 37 8 132982779 132982779 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:132982779G>C uc003yte.2 + 10 1249 c.1048G>C c.(1048-1050)GAA>CAA p.E350Q NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 350 plasma membrane binding p.S348fs*15(1) ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TCTCAGCGTTGAATTCGAAGC 0.393 NaN 0 0 0 0.004672 0 3 30 PHF20L1 51105 broad.mit.edu 37 8 133848934 133848934 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:133848934G>C uc003ytt.2 + 16 2384 c.2059G>C c.(2059-2061)GAG>CAG p.E687Q PHF20L1_uc011lja.1_Missense_Mutation_p.E661Q NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 687 PHD-type. nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ATGTATTTGTGAGATGGATGA 0.408 NaN 0 0 0 0.004482 0 6 54 WISP1 8840 broad.mit.edu 37 8 134225348 134225348 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:134225348G>A uc003yub.2 + 2 387 c.311G>A c.(310-312)AGC>AAC p.S104N WISP1_uc003yuc.2_Missense_Mutation_p.S104N|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.S104N|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 104 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGTGACTACAGCGGGGACCGC 0.612 NaN 0 0 0 0.00361 0 32 252 PTK2 5747 broad.mit.edu 37 8 141810664 141810664 + Silent SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:141810664C>A uc003yvu.2 - 12 1217 c.987G>T c.(985-987)GTG>GTT p.V329V PTK2_uc011ljq.1_5'UTR|PTK2_uc003yvp.2_5'UTR|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.V228V|PTK2_uc003yvs.2_Silent_p.V329V|PTK2_uc003yvt.2_Silent_p.V351V|PTK2_uc003yvv.2_Silent_p.V216V|PTK2_uc011ljr.1_Silent_p.V329V NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 329 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ATGGTGCCGTCACTGTCAGAG 0.468 NaN 1 0 3.59834e-05 0.001168 3.71589e-05 6 66 EEF1D 1936 broad.mit.edu 37 8 144668986 144668986 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:144668986C>T uc011lki.1 - 2 299 c.30G>A c.(28-30)AAG>AAA p.K10K EEF1D_uc003yyp.1_Silent_p.K376K|EEF1D_uc003yyq.1_Silent_p.K426K|EEF1D_uc011lkj.1_Silent_p.K375K|EEF1D_uc003yyr.2_Silent_p.K376K|EEF1D_uc003yyt.2_Silent_p.K376K|EEF1D_uc011lkk.1_Silent_p.K10K|EEF1D_uc003yys.2_Silent_p.K10K|EEF1D_uc003yyv.2_Silent_p.K10K|EEF1D_uc003yyu.2_Silent_p.K10K|EEF1D_uc011lkl.1_Silent_p.K10K NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 10 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGAACCAGATCTTCTCATGTG 0.547 NaN 0 0 0 0.00499 0 13 251 ZNF623 9831 broad.mit.edu 37 8 144733392 144733392 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:144733392G>C uc003yzd.2 + 1 1439 c.1350G>C c.(1348-1350)CAG>CAC p.Q450H ZNF623_uc011lkp.1_Missense_Mutation_p.Q410H|ZNF623_uc003yzc.2_Missense_Mutation_p.Q410H NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 450 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCTGCACCAGATTATTCACA 0.463 NaN 0 0 0 0.00499 0 13 96 EPPK1 83481 broad.mit.edu 37 8 144947098 144947098 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:144947098C>T uc003zaa.1 - 1 337 c.324G>A c.(322-324)CTG>CTA p.L108L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 108 Plectin 2. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTTCTCCTTCAGCTCCAGCC 0.677 NaN 0 0 0 0.001168 0 5 78 PLEC 5339 broad.mit.edu 37 8 144995185 144995185 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:144995185G>T uc003zaf.1 - 32 9385 c.9215C>A c.(9214-9216)GCA>GAA p.A3072E PLEC_uc003zab.1_Missense_Mutation_p.A2935E|PLEC_uc003zac.1_Missense_Mutation_p.A2939E|PLEC_uc003zad.2_Missense_Mutation_p.A2935E|PLEC_uc003zae.1_Missense_Mutation_p.A2903E|PLEC_uc003zag.1_Missense_Mutation_p.A2913E|PLEC_uc003zah.2_Missense_Mutation_p.A2921E|PLEC_uc003zaj.2_Missense_Mutation_p.A2962E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3072 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCGCTGCTCTGCCGTGAAGTA 0.597 NaN 1 0 3.76054e-38 0.00361 4.07156e-38 64 160 PLEC 5339 broad.mit.edu 37 8 144998327 144998327 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:144998327C>T uc003zaf.1 - 31 6351 c.6181G>A c.(6181-6183)GAG>AAG p.E2061K PLEC_uc003zab.1_Missense_Mutation_p.E1924K|PLEC_uc003zac.1_Missense_Mutation_p.E1928K|PLEC_uc003zad.2_Missense_Mutation_p.E1924K|PLEC_uc003zae.1_Missense_Mutation_p.E1892K|PLEC_uc003zag.1_Missense_Mutation_p.E1902K|PLEC_uc003zah.2_Missense_Mutation_p.E1910K|PLEC_uc003zaj.2_Missense_Mutation_p.E1951K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2061 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ATCTCCTCCTCCACCTGCCGC 0.697 NaN 0 0 0 0.006214 0 8 78 PLEC 5339 broad.mit.edu 37 8 145007044 145007044 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:145007044C>G uc003zaf.1 - 14 2235 c.2065G>C c.(2065-2067)GAG>CAG p.E689Q PLEC_uc003zab.1_Missense_Mutation_p.E552Q|PLEC_uc003zac.1_Missense_Mutation_p.E556Q|PLEC_uc003zad.2_Missense_Mutation_p.E552Q|PLEC_uc003zae.1_Missense_Mutation_p.E520Q|PLEC_uc003zag.1_Missense_Mutation_p.E530Q|PLEC_uc003zah.2_Missense_Mutation_p.E538Q|PLEC_uc003zaj.2_Missense_Mutation_p.E579Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 689 Spectrin 1.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGCTGCGCCTCCACGCTGGGC 0.677 NaN 0 0 0 0.001984 0 5 77 PLEC 5339 broad.mit.edu 37 8 145007080 145007080 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:145007080C>T uc003zaf.1 - 14 2199 c.2029G>A c.(2029-2031)GAT>AAT p.D677N PLEC_uc003zab.1_Missense_Mutation_p.D540N|PLEC_uc003zac.1_Missense_Mutation_p.D544N|PLEC_uc003zad.2_Missense_Mutation_p.D540N|PLEC_uc003zae.1_Missense_Mutation_p.D508N|PLEC_uc003zag.1_Missense_Mutation_p.D518N|PLEC_uc003zah.2_Missense_Mutation_p.D526N|PLEC_uc003zaj.2_Missense_Mutation_p.D567N NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 677 Spectrin 1.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCAGCGCCATCCACACGGTGC 0.662 NaN 0 0 0 0.006214 0 6 81 PARP10 84875 broad.mit.edu 37 8 145057596 145057596 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:145057596C>T uc003zal.3 - 8 2269 c.2161G>A c.(2161-2163)GAG>AAG p.E721K PARP10_uc003zak.3_Missense_Mutation_p.E418K|PARP10_uc011lku.1_Missense_Mutation_p.E733K|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.E712K NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 721 Myc binding. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGTCCAGCTCCTCCACATCC 0.692 NaN 0 0 0 0.008291 0 6 38 GRINA 2907 broad.mit.edu 37 8 145065951 145065951 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:145065951C>G uc003zan.1 + 3 637 c.471C>G c.(469-471)ATC>ATG p.I157M GRINA_uc003zao.1_Missense_Mutation_p.I157M|GRINA_uc003zap.1_Missense_Mutation_p.I157M NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 157 integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAAGAGCATCCGACAGGCCT 0.612 NaN 0 0 0 0.008871 0 15 138 SPATC1 375686 broad.mit.edu 37 8 145095934 145095934 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr8:145095934C>T uc011lkw.1 + 3 1334 c.1232C>T c.(1231-1233)TCG>TTG p.S411L SPATC1_uc011lkx.1_Missense_Mutation_p.S411L NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 411 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAGAACCGTCGACGAAGAGC 0.632 NaN 0 0 0 0.010504 0 21 164 VLDLR 7436 broad.mit.edu 37 9 2652822 2652822 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:2652822G>A uc003zhk.1 + 18 2856 c.2459G>A c.(2458-2460)CGG>CAG p.R820Q VLDLR_uc003zhl.1_Missense_Mutation_p.R792Q|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.R751Q NM_003383 NP_003374 P98155 VLDLR_HUMAN very low density lipoprotein receptor isoform a 820 Cytoplasmic (Potential). cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) TTGATGTGGCGGAATTGGCAA 0.423 NaN 0 0 0 0.001855 0 10 80 NFIB 4781 broad.mit.edu 37 9 14313493 14313493 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:14313493G>A uc003zle.2 - 1 453 c.18C>T c.(16-18)ATC>ATT p.I6I NFIB_uc003zlf.2_Silent_p.I6I|NFIB_uc011lmo.1_Silent_p.I6I NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 6 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GAGTGAGACAGATGGGAGAAT 0.443 NaN T MYB|HGMA2 adenoid cystic carcinoma|lipoma 0 0 0 0.00499 0 12 120 NFIB 4781 broad.mit.edu 37 9 14313500 14313500 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:14313500G>A uc003zle.2 - 1 446 c.11C>T c.(10-12)TCT>TTT p.S4F NFIB_uc003zlf.2_Missense_Mutation_p.S4F|NFIB_uc011lmo.1_Missense_Mutation_p.S4F NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 4 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) ACAGATGGGAGAATACATCAT 0.448 NaN T MYB|HGMA2 adenoid cystic carcinoma|lipoma 0 0 0 0.004007 0 11 113 CNTLN 54875 broad.mit.edu 37 9 17484452 17484452 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:17484452G>A uc003zmz.2 + 24 4038 c.4012G>A c.(4012-4014)GAA>AAA p.E1338K CNTLN_uc003zmy.2_Missense_Mutation_p.E1339K|CNTLN_uc010mio.2_Missense_Mutation_p.E1018K NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1339 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AGATTTAGAGGAAATATTAGA 0.323 NaN 0 0 0 0.001168 0 5 34 IFNA4 3441 broad.mit.edu 37 9 21187338 21187338 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:21187338C>G uc003zon.2 - 1 261 c.193G>C c.(193-195)GAG>CAG p.E65Q NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 65 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCATCAAACTCCTCCTCGGGG 0.512 NaN 0 0 0 0.00308 0 8 100 KLHL9 55958 broad.mit.edu 37 9 21334174 21334174 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:21334174G>A uc003zoy.2 - 1 1256 c.685C>T c.(685-687)CGG>TGG p.R229W KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 229 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) TAATCCATCCGAGGGTCTTCC 0.428 NaN 0 0 0 0.00245 0 14 78 TOPORS 10210 broad.mit.edu 37 9 32541498 32541498 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:32541498C>T uc003zrb.2 - 3 3192 c.3025G>A c.(3025-3027)GAG>AAG p.E1009K TOPORS_uc003zrc.2_Missense_Mutation_p.E942K NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 1009 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GGCTGGTTCTCCAAATCAGAA 0.428 NaN 0 0 0 0.001168 0 6 100 UBAP2 55833 broad.mit.edu 37 9 33948389 33948389 + Nonsense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:33948389G>T uc003ztq.1 - 13 1366 c.1253C>A c.(1252-1254)TCA>TAA p.S418* UBAP2_uc011loc.1_Nonsense_Mutation_p.S327*|UBAP2_uc011lod.1_Nonsense_Mutation_p.S151*|UBAP2_uc011loe.1_Nonsense_Mutation_p.S173*|UBAP2_uc011lof.1_Nonsense_Mutation_p.S343*|UBAP2_uc011log.1_Nonsense_Mutation_p.S364*|UBAP2_uc003ztr.2_Nonsense_Mutation_p.S290*|UBAP2_uc003zts.2_Nonsense_Mutation_p.S51* NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 418 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ACTGAGGACTGAGGACTGGGA 0.483 NaN 1 0 4.68919e-08 0.008291 4.93278e-08 9 139 KIF24 347240 broad.mit.edu 37 9 34257247 34257247 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:34257247C>T uc003zua.3 - 11 2478 c.2358G>A c.(2356-2358)CTG>CTA p.L786L KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 786 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) AAGACCTTTTCAGTGGTTGGT 0.517 NaN 0 0 0 0.008291 0 9 80 FANCG 2189 broad.mit.edu 37 9 35076535 35076535 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:35076535C>G uc003zwb.1 - 8 1462 c.970G>C c.(970-972)GAG>CAG p.E324Q FANCG_uc003zwa.1_Missense_Mutation_p.E66Q|FANCG_uc010mkj.1_Missense_Mutation_p.E66Q|FANCG_uc011lot.1_Missense_Mutation_p.E324Q NM_004629 NP_004620 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 324 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding ovary(2)|large_intestine(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AATTCTACCTCAATGAGAAAC 0.463 NaN Mis|N|F|S AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.001368 0 10 70 FANCG 2189 broad.mit.edu 37 9 35077090 35077090 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:35077090C>G uc003zwb.1 - 6 1147 c.655G>C c.(655-657)GAG>CAG p.E219Q FANCG_uc003zwa.1_5'UTR|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.E219Q NM_004629 NP_004620 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 219 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding ovary(2)|large_intestine(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTGATCAGCTCCTGGAGACCT 0.567 NaN Mis|N|F|S AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.006122 0 15 67 UNC13B 10497 broad.mit.edu 37 9 35310490 35310490 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:35310490C>T uc003zwq.2 + 9 1080 c.788C>T c.(787-789)TCC>TTC p.S263F UNC13B_uc010mkl.1_Missense_Mutation_p.S263F|UNC13B_uc003zwr.2_Missense_Mutation_p.S263F NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 263 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGGTATGGCTCCTCCTGTAAT 0.468 NaN 0 0 0 0.004007 0 14 107 FRMPD1 22844 broad.mit.edu 37 9 37744481 37744481 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:37744481G>A uc004aag.1 + 16 2496 c.2452G>A c.(2452-2454)GAT>AAT p.D818N FRMPD1_uc004aah.1_Missense_Mutation_p.D818N NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 818 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) TTGTGGGCCAGATGGAAGACA 0.547 NaN 0 0 0 0.010729 0 12 124 PGM5 5239 broad.mit.edu 37 9 71080072 71080072 + Missense_Mutation SNP T T A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:71080072T>A uc004agr.2 + 7 1336 c.1107T>A c.(1105-1107)AAT>AAA p.N369K NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 369 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 TCTTCTCAAATCTGATGGACT 0.453 NaN 0 0 0 0.008291 0 9 73 SMC5 23137 broad.mit.edu 37 9 72930435 72930435 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:72930435C>G uc004ahr.2 + 13 1864 c.1747C>G c.(1747-1749)CAG>GAG p.Q583E NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 583 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 CCTTTGCTGTCAGTATCATAT 0.343 NaN 0 0 0 0.000602 0 4 27 PRUNE2 158471 broad.mit.edu 37 9 79322056 79322056 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:79322056C>T uc010mpk.2 - 8 5258 c.5134G>A c.(5134-5136)GAT>AAT p.D1712N NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1712 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTGGATTCATCCTCAGCAACG 0.443 NaN 0 0 0 0.001984 0 5 39 ZNF462 58499 broad.mit.edu 37 9 109694815 109694815 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:109694815C>G uc004bcz.2 + 5 6390 c.6101C>G c.(6100-6102)TCT>TGT p.S2034C ZNF462_uc010mto.2_Missense_Mutation_p.S1943C|ZNF462_uc004bda.2_Missense_Mutation_p.S1942C|ZNF462_uc011lvz.1_5'Flank NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2034 C2H2-type 19. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TCGTTTGTTTCTGCTTTCAGG 0.517 NaN 0 0 0 0.001855 0 10 98 CTNNAL1 8727 broad.mit.edu 37 9 111755015 111755015 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:111755015G>C uc004bdo.1 - 3 458 c.416C>G c.(415-417)ACA>AGA p.T139R CTNNAL1_uc010mtt.1_Missense_Mutation_p.T139R|CTNNAL1_uc004bdp.1_Missense_Mutation_p.T139R NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 139 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) TATCACTCCTGTTTTGTCTGT 0.378 NaN 0 0 0 0.009096 0 3 27 C9orf84 158401 broad.mit.edu 37 9 114454446 114454446 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:114454446G>C uc004bfr.2 - 25 3754 c.3619C>G c.(3619-3621)CTA>GTA p.L1207V C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L1168V|C9orf84_uc010mug.2_Missense_Mutation_p.L1118V NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 1207 ovary(2) 2 ATATTAATTAGAAAAGGAGTA 0.373 NaN 0 0 0 0.001168 0 6 28 NDUFA8 4702 broad.mit.edu 37 9 124906608 124906608 + Nonsense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:124906608G>C uc004blv.2 - 4 573 c.431C>G c.(430-432)TCA>TGA p.S144* NM_014222 NP_055037 P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 144 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1) 1 NADH(DB00157) TCTTGGTCTTGAGTGATAGGG 0.517 NaN 0 0 0 0.004482 0 6 84 RC3H2 54542 broad.mit.edu 37 9 125621301 125621301 + Nonsense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:125621301C>A uc010mwc.1 - 12 2171 c.1930G>T c.(1930-1932)GAG>TAG p.E644* RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Nonsense_Mutation_p.E644*|RC3H2_uc004bne.3_Nonsense_Mutation_p.E644* NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 644 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 AGGGAGGACTCTGGAACGTTA 0.507 NaN 1 0 3.27435e-08 0.00245 3.44725e-08 15 62 RC3H2 54542 broad.mit.edu 37 9 125642878 125642878 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:125642878C>G uc010mwc.1 - 6 1196 c.955G>C c.(955-957)GAT>CAT p.D319H RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.D319H|RC3H2_uc004bne.3_Missense_Mutation_p.D319H|RC3H2_uc011lzf.1_Missense_Mutation_p.D56H|RC3H2_uc011lzg.1_Missense_Mutation_p.D319H|SNORD90_uc004bnf.1_5'Flank NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 319 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 CAAACCTTATCAATGATAGAC 0.368 NaN 0 0 0 0.004672 0 3 48 ANGPTL2 23452 broad.mit.edu 37 9 129870633 129870633 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:129870633C>T uc004bqr.1 - 2 878 c.378G>A c.(376-378)GAG>GAA p.E126E RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 precursor 126 multicellular organismal development|signal transduction extracellular space receptor binding 0 TGTTGCGGCTCTCCTTGCGCA 0.612 NaN 0 0 0 0.001368 0 10 41 STXBP1 6812 broad.mit.edu 37 9 130434372 130434372 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:130434372C>T uc004brl.2 + 12 1203 c.1006C>T c.(1006-1008)CAG>TAG p.Q336* STXBP1_uc004brk.2_Nonsense_Mutation_p.Q336* NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 336 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 GAAGATGCCTCAGTACCAGAA 0.473 NaN 0 0 0 0.00333 0 20 69 TOR2A 27433 broad.mit.edu 37 9 130494388 130494388 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:130494388G>A uc004brs.3 - 5 946 c.891C>T c.(889-891)TTC>TTT p.F297F TOR2A_uc004brt.3_3'UTR|TOR2A_uc004brw.3_3'UTR|TOR2A_uc011maj.1_3'UTR|TOR2A_uc004bru.3_Silent_p.F135F|TOR2A_uc004brv.3_RNA|TOR2A_uc004brx.1_3'UTR NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN torsin family 2, member A isoform a 297 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity 0 CTTCAGGGAAGAAGGTGGTGC 0.637 NaN 0 0 0 0.009535 0 28 117 COQ4 51117 broad.mit.edu 37 9 131087436 131087436 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:131087436C>T uc004bur.3 + 3 564 c.217C>T c.(217-219)CTA>TTA p.L73L TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.L73L|COQ4_uc004bus.2_Silent_p.L49L|COQ4_uc010mxy.2_Silent_p.L49L NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 73 ubiquinone biosynthetic process mitochondrial inner membrane 0 GGTCGCAGTTCTAGGGGAGAC 0.438 NaN 0 0 0 0.006214 0 7 35 WDR34 89891 broad.mit.edu 37 9 131396209 131396209 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:131396209C>G uc004bvq.1 - 9 1549 c.1425G>C c.(1423-1425)TTG>TTC p.L475F WDR34_uc004bvs.1_Missense_Mutation_p.L466F|WDR34_uc004bvr.1_Missense_Mutation_p.L447F NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 475 cytoplasm central_nervous_system(2)|skin(1) 3 TTTGCTTGATCAAAACTGTGG 0.517 NaN 0 0 0 0.001168 0 5 52 USP20 10868 broad.mit.edu 37 9 132630421 132630421 + Silent SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:132630421G>C uc004bys.2 + 11 1039 c.828G>C c.(826-828)CGG>CGC p.R276R USP20_uc004byr.2_Silent_p.R276R|USP20_uc004byt.1_Silent_p.R276R NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 276 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) AGGGTGACCGGAGCCCATCAG 0.662 NaN 0 0 0 0.007291 0 24 166 USP20 10868 broad.mit.edu 37 9 132630629 132630629 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:132630629G>A uc004bys.2 + 11 1247 c.1036G>A c.(1036-1038)GAG>AAG p.E346K USP20_uc004byr.2_Missense_Mutation_p.E346K|USP20_uc004byt.1_Missense_Mutation_p.E346K NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 346 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) GCAAGTGGACGAGGACGCTGA 0.667 NaN 0 0 0 0.007413 0 18 133 BAT2L1 84726 broad.mit.edu 37 9 134308165 134308165 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:134308165C>T uc004can.3 + 2 332 c.277C>T c.(277-279)CAG>TAG p.Q93* BAT2L1_uc004cam.1_Nonsense_Mutation_p.Q93* NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 93 protein binding 0 CAAGCAGGATCAGCAAGACCC 0.562 NaN 0 0 0 0.001368 0 10 74 DBH 1621 broad.mit.edu 37 9 136501627 136501627 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:136501627G>A uc004cel.2 + 1 143 c.134G>A c.(133-135)AGC>AAC p.S45N NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 45 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCCCGTGAGAGCCCCCTCCCC 0.647 NaN 0 0 0 0.001855 0 13 58 DBH 1621 broad.mit.edu 37 9 136507468 136507468 + Nonsense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:136507468C>G uc004cel.2 + 3 635 c.626C>G c.(625-627)TCA>TGA p.S209* NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 209 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GAGTTGCCCTCAGACGCGTGC 0.602 NaN 0 0 0 0.004672 0 3 45 GPSM1 26086 broad.mit.edu 37 9 139250941 139250941 + Missense_Mutation SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:139250941G>T uc004chd.2 + 13 1980 c.1760G>T c.(1759-1761)CGA>CTA p.R587L GPSM1_uc011mdu.1_Missense_Mutation_p.R78L|GPSM1_uc004che.2_Missense_Mutation_p.R78L NM_001145638 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 (AGS3-like, C. 587 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GGGCACCTCCGAGGCCACGGC 0.716 NaN 1 0 8.60227e-14 0.004007 9.19089e-14 14 56 TRAF2 7186 broad.mit.edu 37 9 139794080 139794080 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr9:139794080G>A uc010nbu.2 + 4 396 c.223G>A c.(223-225)GAG>AAG p.E75K TRAF2_uc010nbv.1_Missense_Mutation_p.E75K|TRAF2_uc004cjv.2_Missense_Mutation_p.E75K|TRAF2_uc011mek.1_Missense_Mutation_p.E64K|TRAF2_uc010nbw.2_Missense_Mutation_p.E75K NM_021138 NP_066961 Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 75 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CTGTGTTCACGAGGGCATATA 0.383 NaN 0 0 0 0.006122 0 15 78 WWC3 55841 broad.mit.edu 37 X 10106775 10106775 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:10106775C>T uc004csx.3 + 21 3081 c.2883C>T c.(2881-2883)CTC>CTT p.L961L WWC3_uc010nds.2_Silent_p.L625L|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 961 ovary(4) 4 TGGCTGAGCTCATGGCCCGCA 0.597 NaN 0 0 0 0.001984 0 6 33 GLRA2 2742 broad.mit.edu 37 X 14708969 14708969 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:14708969G>A uc010nep.2 + 9 1400 c.1068G>A c.(1066-1068)AAG>AAA p.K356K GLRA2_uc010neq.2_Silent_p.K356K|GLRA2_uc004cwe.3_Silent_p.K356K|GLRA2_uc011mio.1_Silent_p.K267K|GLRA2_uc011mip.1_Silent_p.K334K NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 356 Cytoplasmic (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GAAGACAGAAGAGGCAGAATA 0.468 NaN 0 0 0 0.006214 0 7 48 NHS 4810 broad.mit.edu 37 X 17749980 17749980 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:17749980C>T uc004cxx.2 + 8 4627 c.4289C>T c.(4288-4290)TCC>TTC p.S1430F NHS_uc011mix.1_Missense_Mutation_p.S1451F|NHS_uc004cxy.2_Missense_Mutation_p.S1274F|NHS_uc004cxz.2_Missense_Mutation_p.S1253F|NHS_uc004cya.2_Missense_Mutation_p.S1153F NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1430 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) TCTCAAAGATCCAAGAGGAAA 0.448 NaN 0 0 0 0.010771 0 37 48 PDHA1 5160 broad.mit.edu 37 X 19369482 19369482 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:19369482C>T uc004czg.3 + 4 520 c.375C>T c.(373-375)TTC>TTT p.F125F PDHA1_uc004czh.3_Silent_p.F160F|PDHA1_uc011mjc.1_Silent_p.F129F|PDHA1_uc011mjd.1_Silent_p.F122F|PDHA1_uc010nfk.2_Silent_p.F122F NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 125 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) GCTTTACTTTCACCCGGGGCC 0.502 NaN 0 0 0 0.004878 0 26 67 DDX3X 1654 broad.mit.edu 37 X 41202027 41202027 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:41202027G>C uc004dfe.2 + 6 1336 c.481G>C c.(481-483)GAG>CAG p.E161Q DDX3X_uc010nhf.1_Missense_Mutation_p.E145Q|DDX3X_uc004dff.2_Missense_Mutation_p.E161Q|DDX3X_uc011mkq.1_Missense_Mutation_p.E145Q|DDX3X_uc011mkr.1_Missense_Mutation_p.E161Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 161 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 GATTAATTTTGAGAAATACGA 0.373 NaN HNSCC(61;0.18) 0 0 0 0.008871 0 14 55 DDX3X 1654 broad.mit.edu 37 X 41203033 41203033 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:41203033G>A uc004dfe.2 + 8 1578 c.723G>A c.(721-723)CAG>CAA p.Q241Q DDX3X_uc010nhf.1_Silent_p.Q225Q|DDX3X_uc004dff.2_Silent_p.Q241Q|DDX3X_uc011mkq.1_Silent_p.Q225Q|DDX3X_uc011mkr.1_Silent_p.Q241Q|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 241 Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TCTTGAGTCAGATTTATTCAG 0.403 NaN HNSCC(61;0.18) 0 0 0 0.003163 0 12 40 PHF16 9767 broad.mit.edu 37 X 46913947 46913947 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:46913947G>A uc004dgx.2 + 9 1411 c.1360G>A c.(1360-1362)GAA>AAA p.E454K PHF16_uc004dgy.2_Missense_Mutation_p.E454K NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 454 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 GGAGGATGAAGAAAATGGGCT 0.458 NaN 0 0 0 0.009096 0 4 11 GATA1 2623 broad.mit.edu 37 X 48650256 48650256 + Nonsense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:48650256C>T uc004dkq.3 + 3 317 c.226C>T c.(226-228)CAG>TAG p.Q76* NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 76 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1)|p.V74fs*60(1)|p.Q76E(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 AACAGTCTTTCAGGTGTACCC 0.587 NaN Mis|F megakaryoblastic leukemia of Downs Syndrome 0 0 0 0.006122 0 14 85 GATA1 2623 broad.mit.edu 37 X 48650377 48650377 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:48650377C>G uc004dkq.3 + 3 438 c.347C>G c.(346-348)TCT>TGT p.S116C NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 116 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 CGCGAGGACTCTCCTCCCCAG 0.627 NaN Mis|F megakaryoblastic leukemia of Downs Syndrome 0 0 0 0.008871 0 16 49 GATA1 2623 broad.mit.edu 37 X 48650546 48650546 + Missense_Mutation SNP C C A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:48650546C>A uc004dkq.3 + 3 607 c.516C>A c.(514-516)TTC>TTA p.F172L NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 172 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 CCAGTACCTTCTTTTCTCCCA 0.567 NaN Mis|F megakaryoblastic leukemia of Downs Syndrome 1 0 9.31168e-06 0.001855 9.66208e-06 12 33 GATA1 2623 broad.mit.edu 37 X 48650590 48650590 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:48650590C>T uc004dkq.3 + 3 651 c.560C>T c.(559-561)TCT>TTT p.S187F NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 187 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GCCTATTCCTCTCCCAAGCTT 0.542 NaN Mis|F megakaryoblastic leukemia of Downs Syndrome 0 0 0 0.003163 0 11 35 DGKK 139189 broad.mit.edu 37 X 50129585 50129585 + Splice_Site SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:50129585C>G uc010njr.1 - 15 2179 c.2119_splice c.e15-1 p.S707_splice NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TTAAGTCACTCTATATAGAAA 0.483 NaN 0 0 0 0.004672 0 2 9 SSX7 280658 broad.mit.edu 37 X 52681310 52681310 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:52681310C>T uc004dqx.1 - 4 431 c.272G>A c.(271-273)GGG>GAG p.G91E NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) ACCCTGATTCCCTTGGTTACG 0.517 NaN 0 0 0 0.002299 0 19 77 PFKFB1 5207 broad.mit.edu 37 X 54975561 54975561 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:54975561C>T uc004dty.1 - 9 1011 c.940G>A c.(940-942)GAG>AAG p.E314K PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.E249K NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 314 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 CCCAGGGCCTCAGCTGTCTGG 0.557 NaN 0 0 0 0.00499 0 15 46 ALAS2 212 broad.mit.edu 37 X 55051212 55051212 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:55051212C>T uc004dua.3 - 3 381 c.243G>A c.(241-243)AAG>AAA p.K81K ALAS2_uc004dub.3_Silent_p.K105K|ALAS2_uc004dud.3_Silent_p.K81K NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 81 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) CAATCTTGCTCTTCCCATCCT 0.488 NaN 0 0 0 0.004007 0 14 42 HNRNPH2 3188 broad.mit.edu 37 X 100667669 100667669 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:100667669G>A uc004ehm.2 + 2 863 c.693G>A c.(691-693)ATG>ATA p.M231I HNRNPH2_uc004ehn.2_Missense_Mutation_p.M231I NM_019597 NP_062543 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 231 nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding 0 TTGAAAGGATGAGGCGTGGTG 0.522 NaN 0 0 0 0.003954 0 24 58 MID2 11043 broad.mit.edu 37 X 107169434 107169434 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:107169434G>C uc004enl.2 + 9 2281 c.1708G>C c.(1708-1710)GAG>CAG p.E570Q MID2_uc004enk.2_Missense_Mutation_p.E540Q NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 570 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CCACACCCCAGAGAGGTTTAG 0.468 NaN 0 0 0 0.010729 0 11 30 TMEM164 84187 broad.mit.edu 37 X 109416484 109416484 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:109416484G>A uc004eom.2 + 7 1018 c.699G>A c.(697-699)GTG>GTA p.V233V TMEM164_uc004eol.2_Silent_p.V84V|TMEM164_uc010npq.2_Silent_p.V194V|TMEM164_uc004eon.1_5'Flank NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 233 integral to membrane large_intestine(1)|lung(1)|skin(1) 3 TCACCGAAGTGAATTTGAACA 0.557 NaN 0 0 0 0.00632 0 23 79 DCX 1641 broad.mit.edu 37 X 110653275 110653275 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:110653275C>T uc004epd.2 - 2 767 c.595G>A c.(595-597)GAA>AAA p.E199K DCX_uc011msv.1_Missense_Mutation_p.E199K|DCX_uc004epe.2_Missense_Mutation_p.E118K|DCX_uc004epf.2_Missense_Mutation_p.E118K|DCX_uc004epg.2_Missense_Mutation_p.E118K NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 199 Doublecortin 1. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 TCCTCCAGTTCATCCATGCTT 0.468 NaN 0 0 0 0.003163 0 13 50 GPC4 2239 broad.mit.edu 37 X 132440162 132440162 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:132440162C>G uc004exc.1 - 5 1110 c.898G>C c.(898-900)GAG>CAG p.E300Q GPC4_uc011mvg.1_Missense_Mutation_p.E230Q NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 300 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) TCTAGCCTCTCTGCCACCATC 0.393 NaN 0 0 0 0.006122 0 17 82 MAGEC2 51438 broad.mit.edu 37 X 141291072 141291072 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:141291072C>T uc004fbu.1 - 3 1050 c.702G>A c.(700-702)CTG>CTA p.L234L NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 234 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGATCACACTCAGAATAATAA 0.512 NaN HNSCC(46;0.14) 0 0 0 0.010504 0 16 94 AFF2 2334 broad.mit.edu 37 X 148037319 148037319 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:148037319G>A uc004fcp.2 + 11 2223 c.1744G>A c.(1744-1746)GAA>AAA p.E582K AFF2_uc004fcq.2_Missense_Mutation_p.E572K|AFF2_uc004fcr.2_Missense_Mutation_p.E543K|AFF2_uc011mxb.1_Missense_Mutation_p.E547K|AFF2_uc004fcs.2_Missense_Mutation_p.E549K|AFF2_uc011mxc.1_Missense_Mutation_p.E223K NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 582 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) GGTCCCAGCTGAACCCAAAGA 0.478 NaN 0 0 0 0.012319 0 19 74 SLC6A8 6535 broad.mit.edu 37 X 152958597 152958597 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:152958597C>G uc004fib.3 + 5 1157 c.879C>G c.(877-879)CTC>CTG p.L293L SLC6A8_uc004fic.3_Silent_p.L293L|SLC6A8_uc011myx.1_Silent_p.L178L|SLC6A8_uc010nuj.2_RNA NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 293 Extracellular (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TTTACTATCTCAAGCCTGACT 0.632 NaN 0 0 0 0.000602 0 5 9 FAM50A 9130 broad.mit.edu 37 X 153674218 153674218 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:153674218G>C uc004fll.3 + 3 353 c.255G>C c.(253-255)GAG>GAC p.E85D NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 85 spermatogenesis nucleus ovary(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGAGCGGGAGAAGCAGCTGG 0.607 NaN 0 0 0 0.010729 0 9 25 F8 2157 broad.mit.edu 37 X 154088779 154088779 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrX:154088779C>T uc004fmt.2 - 25 6999 c.6828G>A c.(6826-6828)GTG>GTA p.V2276V F8_uc004fms.2_Silent_p.V141V NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2276 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGAACTCCTTCACATACATGC 0.418 NaN 0 0 0 0.004007 0 14 60 TBL1Y 90665 broad.mit.edu 37 Y 6954349 6954349 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrY:6954349G>A uc004frb.2 + 16 1818 c.1171G>A c.(1171-1173)GAT>AAT p.D391N TBL1Y_uc004frc.2_Missense_Mutation_p.D391N|TBL1Y_uc004frd.2_Missense_Mutation_p.D391N|TBL1Y_uc011nap.1_Missense_Mutation_p.D233N NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 391 WD 5. transcription, DNA-dependent 0 TATGAAGCAGGATGCATGCGT 0.547 NaN 0 0 0 0.00499 0 15 43 KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr1:154680586_154680588delGCT uc001ffp.2 - 8 2374_2376 c.2060_2062delAGC c.(2059-2064)CAGCTC>CTC p.Q687del KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 692 Poly-Gln. integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.64 NaN NaN NaN NaN NaN NaN 7 174 --- --- GLTSCR1 29998 broad.mit.edu 37 19 48197472 48197473 + Frame_Shift_Ins INS - - C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr19:48197472_48197473insC uc002phh.3 + 8 2578_2579 c.2384_2385insC c.(2383-2385)CACfs p.H795fs GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.H553fs NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 795 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CCCTCCCCACACCCCACCCGGC 0.748 NaN NaN NaN NaN NaN NaN 2 4 --- --- C2orf16 84226 broad.mit.edu 37 2 27804926 27804927 + Frame_Shift_Ins INS - - TC TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr2:27804926_27804927insTC uc002rkz.3 + 1 5538_5539 c.5487_5488insTC c.(5485-5490)AGATCTfs p.R1829fs 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 1829_1830 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CTGAGAGGAGATCTCACAGGTC 0.55 NaN NaN NaN NaN NaN NaN 11 49 --- --- EP300 2033 broad.mit.edu 37 22 41560132 41560133 + Frame_Shift_Ins INS - - G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr22:41560132_41560133insG uc003azl.3 + 22 4199_4200 c.3804_3805insG c.(3802-3807)GCTGGAfs p.A1268fs NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1268_1269 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 TCTGGCCTGCTGGGTAAGTCTT 0.371 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome NaN NaN NaN NaN NaN 20 164 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652207 36652208 + Frame_Shift_Ins INS - - T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:36652207_36652208insT uc003omm.3 + 2 451_452 c.329_330insT c.(328-330)CATfs p.H110fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.H144fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.H110fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.H110fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 110 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 GAGGAAGACCATGTGGACCTGT 0.658 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 14 16 --- --- EZR 7430 broad.mit.edu 37 6 159210405 159210406 + Splice_Site INS - - A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chr6:159210405_159210406insA uc003qrt.3 - 2 228 c.13_splice c.e2-1 p.I5_splice EZR_uc011efs.1_Splice_Site_p.I5_splice|EZR_uc003qru.3_Splice_Site_p.I5_splice NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GACATTGATCTGAAAAACAGAA 0.426 NaN NaN NaN NaN NaN NaN 8 40 --- --- KDM5D 8284 broad.mit.edu 37 Y 21868143 21868143 + Frame_Shift_Del DEL T T - TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9 6e6b0a28-322f-43a0-8abe-bff1727ae6b7 g.chrY:21868143delT uc004fug.2 - 27 4646 c.4358delA c.(4357-4359)AACfs p.N1453fs KDM5D_uc011naz.1_Frame_Shift_Del_p.N1484fs|KDM5D_uc010nwy.2_Frame_Shift_Del_p.N1396fs|KDM5D_uc004fuf.2_Frame_Shift_Del_p.N628fs NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 1453 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) ATTCTCAACGTTTCTACCCTG 0.512 NaN NaN NaN NaN NaN NaN 2 4 --- ---