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 MIB2 142678 broad.mit.edu 37 1 1564542 1564542 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:1564542G>A uc001agg.2 + 17 2533 c.2406G>A c.(2404-2406)GCG>GCA p.A802A MIB2_uc001agh.2_Silent_p.A788A|MIB2_uc001agi.2_Silent_p.A798A|MIB2_uc001agj.2_Silent_p.A643A|MIB2_uc001agk.2_Silent_p.A737A|MIB2_uc001agl.1_Silent_p.A758A|MIB2_uc001agm.2_Silent_p.A679A|MIB2_uc010nyq.1_Silent_p.A758A|MIB2_uc009vkh.2_Silent_p.A608A|MIB2_uc001agn.2_Silent_p.A434A|MIB2_uc001ago.2_5'UTR NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 802 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCGGCAGCGCGGAGCTGACGG 0.771000 PRDM16 63976 broad.mit.edu 37 1 3328498 3328498 + Missense_Mutation SNP C C G rs35579804 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:3328498C>G uc001akf.2 + 9 1817 c.1737C>G c.(1735-1737)TTC>TTG p.F579L PRDM16_uc001akc.2_Missense_Mutation_p.F579L|PRDM16_uc001akd.2_Missense_Mutation_p.F579L|PRDM16_uc001ake.2_Missense_Mutation_p.F579L|PRDM16_uc009vlh.2_Missense_Mutation_p.F280L NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 579 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGGAGAAGTTCGAGAGCCGCC 0.662000 T EVI1 MDS|AML DNAJC11 55735 broad.mit.edu 37 1 6706039 6706039 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:6706039C>T uc001aof.2 - 8 811 c.705_splice c.e8-1 p.C235_splice DNAJC11_uc010nzt.1_Splice_Site_p.C197_splice|DNAJC11_uc001aog.2_Splice_Site_p.C235_splice|DNAJC11_uc010nzu.1_Splice_Site_p.C145_splice NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TGTCACAAAGCTGGAGAGACA 0.532000 CAMTA1 23261 broad.mit.edu 37 1 7724156 7724156 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:7724156C>T uc001aoi.2 + 9 1756 c.1549C>T c.(1549-1551)CCC>TCC p.P517S NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCACTCGCCACCCGGGGAGCG 0.592000 NBPF3 84224 broad.mit.edu 37 1 21806543 21806543 + Splice_Site SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:21806543G>C uc001ber.2 + 11 1559 c.1209_splice c.e11-1 p.R403_splice NBPF3_uc001bes.2_Splice_Site_p.R347_splice|NBPF3_uc009vqb.2_Splice_Site_p.R391_splice|NBPF3_uc010odm.1_Splice_Site_p.R333_splice NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TACTTTTCCAGGCTCAGCAGG 0.448000 GJA4 2701 broad.mit.edu 37 1 35260778 35260778 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:35260778C>T uc001bya.2 + 2 1052 c.964C>T c.(964-966)CGT>TGT p.R322C GJA4_uc009vul.2_Missense_Mutation_p.R398C|GJA4_uc009vum.1_Missense_Mutation_p.R322C NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 322 Cytoplasmic (Potential). cell-cell junction assembly integral to plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACCCCCAAGTCGTCCCAGCAG 0.592000 RIMS3 9783 broad.mit.edu 37 1 41092239 41092239 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:41092239G>A uc001cfu.1 - 8 1346 c.877C>T c.(877-879)CGC>TGC p.R293C RIMS3_uc001cfv.1_Missense_Mutation_p.R293C NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 293 neurotransmitter transport cell junction|synapse 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;1.47e-17) TGGGACAGGCGCCTGGTGAGG 0.637000 CC2D1B 200014 broad.mit.edu 37 1 52825375 52825375 + Splice_Site SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:52825375A>G uc001ctq.1 - 8 1080 c.942_splice c.e8+1 p.K314_splice CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Splice_Site_p.K5_splice NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B ovary(2) 2 cagatgCCATACCTTCCCAAT 0.403000 TMEM48 55706 broad.mit.edu 37 1 54298164 54298164 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:54298164T>C uc001cvs.2 - 3 520 c.279A>G c.(277-279)GCA>GCG p.A93A TMEM48_uc010onu.1_Silent_p.A93A|TMEM48_uc001cvt.2_5'UTR|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN transmembrane protein 48 93 Cytoplasmic (Potential). mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore ovary(1)|pancreas(1) 2 AAAACTCACCTGCATAGAACT 0.303000 GFI1 2672 broad.mit.edu 37 1 92946613 92946613 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:92946613C>T uc001dou.3 - 4 495 c.331G>A c.(331-333)GAA>AAA p.E111K GFI1_uc001dov.3_Missense_Mutation_p.E111K|GFI1_uc001dow.3_Missense_Mutation_p.E111K NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 111 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) GGCTGGGCTTCGTCCAGCGAT 0.677000 FNDC7 163479 broad.mit.edu 37 1 109271412 109271412 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:109271412C>T uc001dvx.2 + 8 1528 c.1528C>T c.(1528-1530)CGG>TGG p.R510W FNDC7_uc010ova.1_Missense_Mutation_p.R277W NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 511 Fibronectin type-III 6. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTGCACCATGCGGGGCTTGCC 0.577000 CELSR2 1952 broad.mit.edu 37 1 109794328 109794328 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:109794328C>T uc001dxa.3 + 1 1688 c.1627C>T c.(1627-1629)CGC>TGC p.R543C NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 543 Cadherin 4.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCTGGAATACCGCCTTGCTGG 0.557000 RSBN1 54665 broad.mit.edu 37 1 114309057 114309057 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:114309057C>T uc001edq.2 - 7 1990 c.1954G>A c.(1954-1956)GAA>AAA p.E652K RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 652 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) AGTTTAGCTTCATCTACCCAC 0.348000 PDE4DIP 9659 broad.mit.edu 37 1 144906453 144906453 + Silent SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:144906453T>G uc001elw.3 - 18 2695 c.2404A>C c.(2404-2406)AGG>CGG p.R802R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.R868R|PDE4DIP_uc001emc.1_Silent_p.R802R|PDE4DIP_uc001emd.1_Silent_p.R802R|PDE4DIP_uc001emb.1_Silent_p.R965R|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Silent_p.R587R NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 802 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTATGTTCCTGGTCAGAGAC 0.438000 T PDGFRB MPD RPRD2 23248 broad.mit.edu 37 1 150443610 150443610 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:150443610G>A uc009wlr.2 + 11 2387 c.2186G>A c.(2185-2187)CGG>CAG p.R729Q RPRD2_uc010pcc.1_Missense_Mutation_p.R703Q|RPRD2_uc001eup.3_Missense_Mutation_p.R703Q NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 729 Ser-rich. protein binding ovary(1) 1 CGGGATGAACGGAGTGGGACA 0.547000 MUC1 4582 broad.mit.edu 37 1 155161799 155161799 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:155161799T>G uc010pft.1 - 2 400 c.334A>C c.(334-336)ACC>CCC p.T112P RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P P15941 MUC1_HUMAN SubName: Full=MUC1 isoform M13; 112 Extracellular (Potential).|3. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGGGTGGTGGAGCCC 0.711000 T IGH@ B-NHL CLK2 1196 broad.mit.edu 37 1 155234561 155234561 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:155234561C>A uc001fjy.2 - 9 1228 c.938G>T c.(937-939)CGA>CTA p.R313L RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R312L|CLK2_uc001fjx.2_Missense_Mutation_p.R85L|CLK2_uc009wqm.2_Missense_Mutation_p.R313L NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 313 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCGCTCATCTCGCTTCTAGGA 0.507000 Other_conserved_DNA_damage_response_genes OR10K2 391107 broad.mit.edu 37 1 158390237 158390237 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:158390237C>A uc010pii.1 - 1 420 c.420G>T c.(418-420)GTG>GTT p.V140V NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GTCCCATACACACCCCATGTC 0.498000 OR10X1 128367 broad.mit.edu 37 1 158549497 158549497 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:158549497T>G uc010pin.1 - 1 193 c.193A>C c.(193-195)ACT>CCT p.T65P NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 65 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCCACCCAAGTTAGACCCATG 0.478000 SPTA1 6708 broad.mit.edu 37 1 158637761 158637761 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:158637761T>G uc001fst.1 - 15 2124 c.1925A>C c.(1924-1926)AAA>ACA p.K642T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 642 Spectrin 7. 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) TTGGCCAGTTTTCTGTATGTT 0.473000 DDR2 4921 broad.mit.edu 37 1 162741839 162741839 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:162741839C>T uc001gcf.2 + 14 1995 c.1530C>T c.(1528-1530)GTC>GTT p.V510V DDR2_uc001gcg.2_Silent_p.V510V NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 510 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TGAAGCCAGTCCAGCCCAGTG 0.577000 QSOX1 5768 broad.mit.edu 37 1 180163458 180163458 + Missense_Mutation SNP G G T rs143337247 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:180163458G>T uc001gnz.2 + 11 1474 c.1399G>T c.(1399-1401)GTG>TTG p.V467L QSOX1_uc001gny.2_Missense_Mutation_p.V467L|QSOX1_uc001goa.2_Missense_Mutation_p.V467L|QSOX1_uc001goc.2_Missense_Mutation_p.V9L NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 467 ERV/ALR sulfhydryl oxidase. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 CATGCACCGGGTGGGGAGTCC 0.627000 LAMC2 3918 broad.mit.edu 37 1 183190066 183190066 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:183190066G>T uc001gqa.2 + 5 924 c.610G>T c.(610-612)GTC>TTC p.V204F LAMC2_uc001gpz.3_Missense_Mutation_p.V204F|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 204 cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 AGAATACAGTGTCCATAAGAT 0.448000 ATP2B4 493 broad.mit.edu 37 1 203680140 203680140 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:203680140C>T uc001gzw.2 + 12 2819 c.1935C>T c.(1933-1935)TTC>TTT p.F645F ATP2B4_uc001gzv.2_Silent_p.F645F|ATP2B4_uc009xaq.2_Silent_p.F645F NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 645 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) ACCGGGACTTCGATGACACAG 0.532000 CENPF 1063 broad.mit.edu 37 1 214820722 214820722 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:214820722C>A uc001hkm.2 + 13 7983 c.7809C>A c.(7807-7809)GAC>GAA p.D2603E NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2699 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAAAAATGGACAAAATGTCCT 0.348000 GJC2 57165 broad.mit.edu 37 1 228345589 228345589 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:228345589G>A uc001hsk.2 + 2 305 c.130G>A c.(130-132)GAG>AAG p.E44K NM_020435 NP_065168 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 44 Helical; (Potential). cell death connexon complex|integral to membrane 0 Prostate(94;0.0405) TGTGGGCGGCGAGGCCATCTA 0.647000 TTC13 79573 broad.mit.edu 37 1 231047280 231047280 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:231047280A>T uc001huf.3 - 20 2276 c.2245T>A c.(2245-2247)TGC>AGC p.C749S TTC13_uc009xfi.2_Missense_Mutation_p.C696S|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.C695S|TTC13_uc009xfk.1_Missense_Mutation_p.C638S NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 749 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ATTAAGTTGCAGACAGCATCA 0.289000 NID1 4811 broad.mit.edu 37 1 236157005 236157005 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:236157005C>T uc001hxo.2 - 13 2797 c.2695G>A c.(2695-2697)GTG>ATG p.V899M NID1_uc009xgd.2_Missense_Mutation_p.V766M|NID1_uc009xgc.2_Translation_Start_Site NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 899 Thyroglobulin type-1. 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) TCGCGATCCACGCACCAGCAG 0.692000 CHRM3 1131 broad.mit.edu 37 1 240072345 240072345 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:240072345C>A uc001hyp.2 + 5 2373 c.1594C>A c.(1594-1596)CTG>ATG p.L532M NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 532 Helical; Name=7; (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GGGCTACTGGCTGTGCTACAT 0.483000 OR2T3 343173 broad.mit.edu 37 1 248637589 248637589 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:248637589G>C uc001iel.1 + 1 938 c.938G>C c.(937-939)AGA>ACA p.R313T NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGCAGTCAAGAATGAACCAA 0.483000 KIAA1462 57608 broad.mit.edu 37 10 30318557 30318557 + Nonsense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:30318557G>A uc001iux.2 - 2 579 c.520C>T c.(520-522)CGA>TGA p.R174* KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Nonsense_Mutation_p.R36*|KIAA1462_uc009xle.1_Nonsense_Mutation_p.R174* NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 174 ovary(4) 4 CCTGACATTCGCAATTCTTCT 0.547000 AGAP7 653268 broad.mit.edu 37 10 51472611 51472611 + Silent SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:51472611C>G uc001jio.2 - 4 495 c.369G>C c.(367-369)TCG>TCC p.S123S PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 123 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GGAATATTGTCGAACACAAGC 0.378000 AGAP7 653268 broad.mit.edu 37 10 51472618 51472618 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:51472618A>G uc001jio.2 - 4 488 c.362T>C c.(361-363)TTG>TCG p.L121S PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 121 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 TGTCGAACACAAGCTGTATTG 0.383000 BICC1 80114 broad.mit.edu 37 10 60546751 60546751 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:60546751C>T uc001jki.1 + 5 456 c.456C>T c.(454-456)GGC>GGT p.G152G NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 152 KH 1. multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GCAAAGGTGGCAACAATATTA 0.378000 EIF4EBP2 1979 broad.mit.edu 37 10 72179853 72179853 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:72179853T>C uc001jrb.2 + 2 626 c.329T>C c.(328-330)GTT>GCT p.V110A NM_004096 NP_004087 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E 110 negative regulation of translational initiation|translation eukaryotic initiation factor 4E binding 0 AAACATGCAGTTGGTAAGAGA 0.408000 PRF1 5551 broad.mit.edu 37 10 72360440 72360440 + Nonsense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:72360440G>T uc009xqg.2 - 2 380 c.219C>A c.(217-219)TGC>TGA p.C73* PRF1_uc001jrf.3_Nonsense_Mutation_p.C73* NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 73 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CACAGAGGGTGCAGGTGCCGT 0.682000 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis ZCCHC24 219654 broad.mit.edu 37 10 81146114 81146114 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:81146114C>T uc001kak.2 - 4 900 c.713G>A c.(712-714)CGT>CAT p.R238H ZCCHC24_uc010qlr.1_Silent_p.P178P|ZCCHC24_uc009xrw.2_RNA NM_153367 NP_699198 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 238 nucleic acid binding|zinc ion binding breast(1) 1 CTGCACGCGACGGCAGTAGTA 0.697000 ZFYVE27 118813 broad.mit.edu 37 10 99511150 99511150 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:99511150C>T uc001koo.2 + 8 1007 c.807C>T c.(805-807)GAC>GAT p.D269D ZFYVE27_uc001kon.2_Silent_p.D274D|ZFYVE27_uc001koq.2_Silent_p.D183D|ZFYVE27_uc010qpa.1_Silent_p.D151D|ZFYVE27_uc001kop.2_Silent_p.D269D|ZFYVE27_uc010qpb.1_Silent_p.D176D|ZFYVE27_uc010qpc.1_RNA|ZFYVE27_uc010qpd.1_Silent_p.D237D|ZFYVE27_uc001kok.1_RNA|ZFYVE27_uc001kol.1_Silent_p.D269D|ZFYVE27_uc001kom.1_Silent_p.D269D NM_144588 NP_653189 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 isoform 269 Extracellular (Potential). cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding ovary(1) 1 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) CTTCCCAGGACCTCACACCGG 0.582000 FAM178A 55719 broad.mit.edu 37 10 102709894 102709894 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:102709894T>C uc001krt.3 + 16 3724 c.3182T>C c.(3181-3183)GTC>GCC p.V1061A FAM178A_uc001krs.2_Missense_Mutation_p.V1061A NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 1061 0 AAGAAAATGGTCTTGAAGAAA 0.373000 MGEA5 10724 broad.mit.edu 37 10 103563707 103563707 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:103563707G>C uc001ktv.2 - 7 1264 c.821C>G c.(820-822)GCT>GGT p.A274G MGEA5_uc010qqe.1_Missense_Mutation_p.A274G|MGEA5_uc009xws.2_Missense_Mutation_p.A274G|MGEA5_uc001ktw.2_Missense_Mutation_p.A274G|MGEA5_uc009xwt.2_Intron NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 274 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) GATTACTGGAGCTCTCTTAAT 0.398000 PSD 5662 broad.mit.edu 37 10 104173948 104173948 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:104173948C>A uc001kvg.1 - 5 1658 c.1131G>T c.(1129-1131)GGG>GGT p.G377G PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.G377G NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 377 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCATCCGGCTCCCTGGCCTGC 0.587000 GPR26 2849 broad.mit.edu 37 10 125426576 125426576 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:125426576T>C uc001lhh.2 + 1 706 c.653T>C c.(652-654)GTG>GCG p.V218A NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 218 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GTGCTGCTGGTGGACCTGCAC 0.642000 PPP2R2D 55844 broad.mit.edu 37 10 133754196 133754196 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:133754196C>T uc001lks.2 + 3 619 c.376C>T c.(376-378)CGG>TGG p.R126W PPP2R2D_uc001lkr.2_Translation_Start_Site|PPP2R2D_uc001lkt.2_Translation_Start_Site|PPP2R2D_uc009yay.2_Translation_Start_Site NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 159 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) CACGGCGCTACGGGTACACGT 0.423000 APBB1 322 broad.mit.edu 37 11 6432422 6432422 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:6432422G>A uc001mdb.1 - 2 256 c.156C>T c.(154-156)AGC>AGT p.S52S APBB1_uc001mdc.1_Silent_p.S52S|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 52 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCCCATGGCGCTGCGCAGGT 0.697000 EIF3F 8665 broad.mit.edu 37 11 8009011 8009011 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:8009011G>C uc001mfw.2 + 1 145 c.112G>C c.(112-114)GTT>CTT p.V38L EIF3F_uc010rbj.1_5'UTR NM_003754 NP_003745 O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, 38 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(1) 1 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) tgcggctccggttcccgctgc 0.343000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SBF2 81846 broad.mit.edu 37 11 9989983 9989983 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:9989983T>C uc001mib.2 - 14 1643 c.1505A>G c.(1504-1506)CAG>CGG p.Q502R SBF2_uc001mif.3_Missense_Mutation_p.Q258R|SBF2_uc001mih.3_Missense_Mutation_p.Q31R NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 502 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TATTAATTCCTGAACCCGGGC 0.448000 DBX1 120237 broad.mit.edu 37 11 20177850 20177850 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:20177850C>T uc001mpw.1 - 4 1059 c.1059G>A c.(1057-1059)GCG>GCA p.A353A NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 314 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGCTCGAGTGCGCGGGCGAGG 0.706000 SLC17A6 57084 broad.mit.edu 37 11 22380965 22380965 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:22380965C>T uc001mqk.2 + 4 878 c.465C>T c.(463-465)TTC>TTT p.F155F NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 155 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TCAGGGTTTTCGGAGCTGCCA 0.363000 ALX4 60529 broad.mit.edu 37 11 44286723 44286723 + Missense_Mutation SNP G G A rs149897209 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:44286723G>A uc001myb.2 - 4 1021 c.917C>T c.(916-918)CCG>CTG p.P306L NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 306 hair follicle development 0 GAGCCAGGACGGGTTCTGAAT 0.682000 GYLTL1B 120071 broad.mit.edu 37 11 45949133 45949133 + Silent SNP C C T rs139156494 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:45949133C>T uc001nbv.1 + 11 1704 c.1593C>T c.(1591-1593)TAC>TAT p.Y531Y GYLTL1B_uc001nbw.1_Silent_p.Y500Y|GYLTL1B_uc001nbx.1_Silent_p.Y531Y|GYLTL1B_uc001nby.1_Silent_p.Y214Y|GYLTL1B_uc001nbz.1_5'Flank NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 531 Lumenal (Potential). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.226) ATTCTCTCTACGACTACCTCA 0.597000 ARHGAP1 392 broad.mit.edu 37 11 46701257 46701257 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:46701257C>T uc001ndd.2 - 11 1037 c.968G>A c.(967-969)CGG>CAG p.R323Q NM_004308 NP_004299 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 323 Rho-GAP. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity skin(1) 1 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) AGGAAGCTCCCGGAGGAAGGT 0.612000 OR8K1 390157 broad.mit.edu 37 11 56113601 56113601 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:56113601G>A uc010rjg.1 + 1 87 c.87G>A c.(85-87)CTG>CTA p.L29L NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 29 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) ACCCTGGGCTGCAGGCTCCAC 0.463000 HNSCC(65;0.19) OR5M10 390167 broad.mit.edu 37 11 56344314 56344314 + Missense_Mutation SNP C C G rs2852414 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:56344314C>G uc001niz.1 - 1 884 c.884G>C c.(883-885)AGA>ACA p.R295T NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATTACATCTCTGTTCCGTAG 0.398000 GAL3ST3 89792 broad.mit.edu 37 11 65810589 65810589 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:65810589G>A uc001ogv.2 - 2 845 c.685C>T c.(685-687)CGC>TGC p.R229C GAL3ST3_uc001ogw.2_Missense_Mutation_p.R229C NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 229 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 TCCACCTGGCGGATGAGGCCC 0.662000 DNAJB13 374407 broad.mit.edu 37 11 73679403 73679403 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:73679403T>C uc001ouo.2 + 6 1371 c.620T>C c.(619-621)ATC>ACC p.I207T NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein 207 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) CCCAACATCATCCCAGCAGAC 0.393000 GRM5 2915 broad.mit.edu 37 11 88258490 88258490 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:88258490C>G uc001pcq.2 - 8 2913 c.2713G>C c.(2713-2715)GCA>CCA p.A905P GRM5_uc009yvm.2_Intron NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 905 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTCATTGTTGCTCTCCCACCA 0.507000 AKAP3 10566 broad.mit.edu 37 12 4737889 4737889 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:4737889C>T uc001qnb.3 - 4 408 c.179G>A c.(178-180)CGG>CAG p.R60Q NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 60 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 GGGTTTGAACCGAACATCTTG 0.502000 ZNF705A 440077 broad.mit.edu 37 12 8328533 8328533 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:8328533A>G uc001qud.1 + 4 385 c.313A>G c.(313-315)ACA>GCA p.T105A NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Kidney(36;0.0877) CACCAGTATGACAATGGTAAG 0.358000 LRRK2 120892 broad.mit.edu 37 12 40629471 40629471 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:40629471T>C uc001rmg.3 + 4 512 c.391T>C c.(391-393)TTG>CTG p.L131L NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 131 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CAGTGTAAACTTGTCAGTGAT 0.303000 LRRK2 120892 broad.mit.edu 37 12 40761458 40761458 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:40761458G>T uc001rmg.3 + 51 7596 c.7475G>T c.(7474-7476)TGC>TTC p.C2492F LRRK2_uc009zjw.2_Missense_Mutation_p.C1330F|LRRK2_uc001rmi.2_3'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2492 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATACAATCTTGCTTGACCGTT 0.299000 KCNH3 23416 broad.mit.edu 37 12 49948186 49948186 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:49948186T>C uc001ruh.1 + 11 2245 c.1985T>C c.(1984-1986)GTG>GCG p.V662A KCNH3_uc010smj.1_Missense_Mutation_p.V602A NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 662 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 AATGCCGACGTGAAGGGGCTG 0.652000 KRT6B 3854 broad.mit.edu 37 12 52844237 52844237 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:52844237G>A uc001sak.2 - 2 756 c.708C>T c.(706-708)GAC>GAT p.D236D NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 236 Coil 1B.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) TCAGCTCCGAGTCCAGACGAC 0.557000 KRT79 338785 broad.mit.edu 37 12 53225307 53225307 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:53225307A>G uc001sbb.2 - 2 614 c.581T>C c.(580-582)CTC>CCC p.L194P KRT79_uc001sba.2_5'Flank NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 194 Rod.|Linker 1. keratin filament structural molecule activity ovary(2)|skin(2) 4 GGCCTCAAAGAGGGGCTCCAG 0.607000 MFSD5 84975 broad.mit.edu 37 12 53647497 53647497 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:53647497T>C uc001sci.1 + 2 1069 c.878T>C c.(877-879)CTG>CCG p.L293P MFSD5_uc001sch.1_Missense_Mutation_p.L400P NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 293 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 GCAGCCAGCCTGCTTGGCTCT 0.572000 ERBB3 2065 broad.mit.edu 37 12 56481648 56481648 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:56481648A>G uc001sjh.2 + 6 876 c.683A>G c.(682-684)CAT>CGT p.H228R ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169R|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 228 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAGTGCTGCCATGATGAGTGT 0.537000 TMEM5 10329 broad.mit.edu 37 12 64202655 64202655 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:64202655C>A uc001srq.1 + 6 1219 c.1115C>A c.(1114-1116)CCT>CAT p.P372H TMEM5_uc001srr.1_Missense_Mutation_p.P269H|TMEM5_uc001srs.1_Missense_Mutation_p.P112H NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 372 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) CACGGTGCTCCTCTGCAGTTA 0.448000 TMTC2 160335 broad.mit.edu 37 12 83358805 83358805 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:83358805G>C uc001szt.2 + 5 2033 c.1601G>C c.(1600-1602)GGG>GCG p.G534A TMTC2_uc001szr.1_Missense_Mutation_p.G534A|TMTC2_uc001szs.1_Missense_Mutation_p.G534A|TMTC2_uc010suk.1_Missense_Mutation_p.G289A NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 534 TPR 3. endoplasmic reticulum|integral to membrane binding ovary(2) 2 TCATGCAGAGGGCTACTTCTC 0.348000 PRDM4 11108 broad.mit.edu 37 12 108134917 108134917 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:108134917C>T uc001tmp.2 - 10 2167 c.1730G>A c.(1729-1731)AGC>AAC p.S577N PRDM4_uc010sww.1_5'UTR|PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 577 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 ATGGCTGCCGCTATGTCCCTG 0.488000 SSH1 54434 broad.mit.edu 37 12 109182208 109182208 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:109182208G>T uc001tnm.2 - 15 2793 c.2706C>A c.(2704-2706)TTC>TTA p.F902L SSH1_uc001tnl.2_Missense_Mutation_p.F590L NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 902 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 CCAGGCGGTAGAAGAAAGGAG 0.587000 TMEM116 89894 broad.mit.edu 37 12 112374526 112374526 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:112374526G>T uc001ttc.1 - 10 938 c.282C>A c.(280-282)GGC>GGA p.G94G TMEM116_uc001ttd.1_Silent_p.G186G|TMEM116_uc001tte.1_Silent_p.G151G|TMEM116_uc001ttf.1_Silent_p.G94G|TMEM116_uc001ttg.1_Intron|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Silent_p.G186G NM_138341 NP_612350 Q8NCL8 TM116_HUMAN transmembrane protein 116 94 Helical; (Potential). integral to membrane ovary(1) 1 GTACAAAGCTGCCCAGGAAAA 0.483000 TRAFD1 10906 broad.mit.edu 37 12 112587666 112587666 + Nonsense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:112587666A>T uc001ttp.2 + 9 1356 c.1270A>T c.(1270-1272)AGA>TGA p.R424* TRAFD1_uc001tto.2_Nonsense_Mutation_p.R424*|TRAFD1_uc010syj.1_RNA NM_006700 NP_006691 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 424 negative regulation of innate immune response intracellular protein binding|zinc ion binding 0 GAGGCGTGTCAGACACCAGGG 0.577000 NOS1 4842 broad.mit.edu 37 12 117710313 117710313 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:117710313C>T uc001twm.1 - 10 2402 c.1716G>A c.(1714-1716)GTG>GTA p.V572V NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 572 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCATGTTGGACACGGCGGGGA 0.612000 NOS1 4842 broad.mit.edu 37 12 117715775 117715775 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:117715775G>T uc001twm.1 - 9 2339 c.1653C>A c.(1651-1653)ATC>ATA p.I551I NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 551 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGGGGTGCCTGATGGGAACTT 0.607000 GCN1L1 10985 broad.mit.edu 37 12 120599753 120599753 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr12:120599753A>G uc001txo.2 - 21 2286 c.2273T>C c.(2272-2274)GTG>GCG p.V758A NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 758 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCCGCGTCACCAGGCGCAG 0.582000 CSNK1A1L 122011 broad.mit.edu 37 13 37678834 37678834 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr13:37678834T>C uc001uwm.1 - 1 968 c.560A>G c.(559-561)TAT>TGT p.Y187C NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 187 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GATGCTGGCATATCGGACAGT 0.448000 PCDH17 27253 broad.mit.edu 37 13 58209157 58209157 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr13:58209157C>A uc001vhq.1 + 1 3369 c.2477C>A c.(2476-2478)CCT>CAT p.P826H PCDH17_uc010aec.1_Missense_Mutation_p.P826H NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 826 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CTGACTGTCCCTCAGGGGCAC 0.602000 PCDH20 64881 broad.mit.edu 37 13 61988055 61988055 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr13:61988055G>A uc001vid.3 - 2 541 c.177C>T c.(175-177)CTC>CTT p.L59L PCDH20_uc010thj.1_Silent_p.L59L NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 32 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGTAACTCCCGAGGCAGCTGA 0.607000 NALCN 259232 broad.mit.edu 37 13 101910814 101910814 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr13:101910814C>T uc001vox.1 - 11 1435 c.1246G>A c.(1246-1248)GAC>AAC p.D416N NALCN_uc001voy.2_Missense_Mutation_p.D131N|NALCN_uc001voz.2_Missense_Mutation_p.D416N|NALCN_uc001vpa.2_Missense_Mutation_p.D416N NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 416 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGAACTCGTCGTACTGCCTC 0.547000 APEX1 328 broad.mit.edu 37 14 20923813 20923813 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:20923813G>A uc001vxg.2 + 2 341 c.9G>A c.(7-9)AAG>AAA p.K3K OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_Silent_p.K3K|APEX1_uc001vxi.2_Silent_p.K3K|APEX1_uc001vxj.2_Silent_p.K3K NM_001641 NP_001632 P27695 APEX1_HUMAN APEX nuclease 1 3 Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli. base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity ovary(2)|breast(2) 4 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) GAATGCCGAAGCGTGGGAAAA 0.552000 Direct_reversal_of_damage|Other_BER_factors NYNRIN 57523 broad.mit.edu 37 14 24884516 24884516 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:24884516C>A uc001wpf.3 + 9 3879 c.3561C>A c.(3559-3561)GCC>GCA p.A1187A NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1187 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 ACCCCATAGCCTATACCTCAA 0.637000 FOXG1 2290 broad.mit.edu 37 14 29237317 29237317 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:29237317A>G uc001wqe.2 + 1 1031 c.832A>G c.(832-834)ACC>GCC p.T278A NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 278 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCGCCGCTCCACCACCTCGCG 0.697000 CTAGE5 4253 broad.mit.edu 37 14 39818141 39818141 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:39818141A>G uc001wvg.3 + 23 2544 c.2208A>G c.(2206-2208)CCA>CCG p.P736P CTAGE5_uc001wuz.3_Silent_p.P724P|CTAGE5_uc001wuy.3_Silent_p.P656P|CTAGE5_uc001wvb.3_Silent_p.P664P|CTAGE5_uc001wvc.3_Silent_p.P638P|CTAGE5_uc001wva.3_Silent_p.P707P|CTAGE5_uc001wvh.3_Silent_p.P693P|CTAGE5_uc001wvf.3_Silent_p.P661P|CTAGE5_uc001wvi.3_Silent_p.P741P|CTAGE5_uc010amz.2_Silent_p.P352P|CTAGE5_uc001wvj.3_Silent_p.P707P NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 736 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) ATTATTTTCCACCAGGGGATT 0.443000 NRXN3 9369 broad.mit.edu 37 14 79270092 79270092 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:79270092C>T uc001xun.2 + 6 1546 c.1055C>T c.(1054-1056)ACG>ATG p.T352M NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.T486M NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 725 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTGGTGGCTACGACCTCCAGG 0.552000 KIAA1409 57578 broad.mit.edu 37 14 94152946 94152946 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:94152946G>T uc001ybv.1 + 42 6583 c.6500G>T c.(6499-6501)AGG>ATG p.R2167M KIAA1409_uc001ybs.1_Missense_Mutation_p.R2145M NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2322 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) GAGTGTGTGAGGCAGTACATC 0.517000 EML1 2009 broad.mit.edu 37 14 100363543 100363543 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:100363543G>A uc001ygs.2 + 7 808 c.739G>A c.(739-741)GTC>ATC p.V247I EML1_uc010avt.1_Missense_Mutation_p.V234I|EML1_uc010tww.1_Missense_Mutation_p.V235I|EML1_uc001ygq.2_Missense_Mutation_p.V266I|EML1_uc001ygr.2_Missense_Mutation_p.V266I NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 247 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) GGGAGAGACCGTCTACTTCAT 0.488000 AHNAK2 113146 broad.mit.edu 37 14 105406981 105406981 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:105406981G>A uc010axc.1 - 7 14927 c.14807C>T c.(14806-14808)CCT>CTT p.P4936L AHNAK2_uc001ypx.2_Missense_Mutation_p.P4836L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4936 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) GGCTTCTCCAGGGGCCACTAC 0.562000 BMF 90427 broad.mit.edu 37 15 40398015 40398015 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:40398015T>A uc001zkv.2 - 2 359 c.273A>T c.(271-273)GAA>GAT p.E91D BMF_uc001zkt.2_Missense_Mutation_p.E91D|BMF_uc001zku.2_Missense_Mutation_p.E91D|BMF_uc001zkw.2_Missense_Mutation_p.E91D NM_033503 NP_277038 Q96LC9 BMF_HUMAN Bcl2 modifying factor isoform bmf-1 91 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding ovary(1) 1 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) GTCGCTGGGGTTCCTCAGTCA 0.587000 CILP 8483 broad.mit.edu 37 15 65489691 65489691 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:65489691C>T uc002aon.2 - 9 3114 c.2933G>A c.(2932-2934)CGG>CAG p.R978Q NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 978 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CACTGTCTGCCGATGAGTGCC 0.562000 MEGF11 84465 broad.mit.edu 37 15 66190400 66190400 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:66190400C>T uc002apm.2 - 23 3148 c.3007G>A c.(3007-3009)GGT>AGT p.G1003S MEGF11_uc002apl.2_Missense_Mutation_p.G928S NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 1003 basolateral plasma membrane|integral to membrane pancreas(1) 1 GAGTTATGACCGCAACCTTCT 0.458000 PARP6 56965 broad.mit.edu 37 15 72543197 72543197 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:72543197G>T uc002auc.2 - 17 1866 c.1407C>A c.(1405-1407)ACC>ACA p.T469T PARP6_uc002aua.2_Silent_p.T315T|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.T470T NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 469 PARP catalytic. NAD+ ADP-ribosyltransferase activity 0 GGAAGGCAAAGGTGCTGCCAT 0.592000 AKAP13 11214 broad.mit.edu 37 15 86225395 86225395 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:86225395G>A uc002blv.1 + 15 5278 c.5108G>A c.(5107-5109)CGG>CAG p.R1703Q AKAP13_uc002blt.1_Missense_Mutation_p.R1685Q|AKAP13_uc002blu.1_Missense_Mutation_p.R1707Q|AKAP13_uc010bnf.1_Missense_Mutation_p.R325Q|AKAP13_uc002blw.1_Missense_Mutation_p.R170Q|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Missense_Mutation_p.R356Q NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1703 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CTAGATTCACGGCCCTTCCAC 0.338000 VPS33B 26276 broad.mit.edu 37 15 91543197 91543197 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:91543197C>A uc002bqp.1 - 21 1944 c.1590G>T c.(1588-1590)GAG>GAT p.E530D VPS33B_uc002bqq.1_Missense_Mutation_p.E439D|VPS33B_uc010uqu.1_Missense_Mutation_p.E503D NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 530 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) AGCTTCGCCGCTCTAGCACCT 0.527000 LRRK1 79705 broad.mit.edu 37 15 101569258 101569258 + Silent SNP C C T rs137936039 by1000genomes TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr15:101569258C>T uc002bwr.2 + 20 3103 c.2784C>T c.(2782-2784)TCC>TCT p.S928S LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 928 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) TTTGGCTCTCCGAATGTCTGC 0.552000 RAB11FIP3 9727 broad.mit.edu 37 16 539001 539001 + Splice_Site SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:539001G>T uc002chf.2 + 5 1604 c.1265_splice c.e5+1 p.S422_splice RAB11FIP3_uc010uuf.1_Splice_Site_p.S126_splice|RAB11FIP3_uc010uug.1_Splice_Site_p.S112_splice NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) TCACGCCCAGGTAATGACGCC 0.567000 MSLNL 401827 broad.mit.edu 37 16 824912 824912 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:824912G>A uc002cjz.1 - 7 1660 c.1660C>T c.(1660-1662)CGG>TGG p.R554W NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 203 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 GGGCAGCGCCGCAGGTTCTCC 0.697000 EME2 197342 broad.mit.edu 37 16 1825267 1825267 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:1825267G>A uc002cmq.1 + 5 653 c.653G>A c.(652-654)GGC>GAC p.G218D MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Intron NM_001010865 NP_001010865 A4GXA9 EME2_HUMAN essential meiotic endonuclease 1 homolog 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA recombination|DNA repair nucleus DNA binding|endonuclease activity lung(1)|central_nervous_system(1)|pancreas(1) 3 CCAAGCTCGGGCAGGGCAGGC 0.672000 Direct_reversal_of_damage|Homologous_recombination HS3ST6 64711 broad.mit.edu 37 16 1961699 1961699 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:1961699C>T uc002cnf.2 - 2 828 c.828G>A c.(826-828)CGG>CGA p.R276R NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 276 0 GTGGGTGTGGCCGGCCCTTGG 0.677000 ZNF598 90850 broad.mit.edu 37 16 2052336 2052336 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:2052336A>C uc002cof.1 - 7 781 c.766T>G c.(766-768)TTC>GTC p.F256V ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 256 intracellular zinc ion binding lung(1)|breast(1) 2 TCGGTGCGGAAGGCGTGGGTG 0.637000 CCNF 899 broad.mit.edu 37 16 2495531 2495531 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:2495531C>T uc002cqd.1 + 10 1090 c.1002C>T c.(1000-1002)ACC>ACT p.T334T CCNF_uc002cqe.1_Silent_p.T26T NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 334 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) TGCACCTGACCGTGGAGTGTG 0.607000 CORO7 79585 broad.mit.edu 37 16 4457673 4457673 + Nonsense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:4457673G>A uc002cwh.3 - 5 436 c.316C>T c.(316-318)CGA>TGA p.R106* CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.R106*|CORO7_uc002cwg.3_5'UTR|CORO7_uc010uxh.1_Nonsense_Mutation_p.R88*|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_5'UTR|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_RNA NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 106 WD 1. cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CCTGGCAGTCGCCAGAGTTTT 0.652000 CP110 9738 broad.mit.edu 37 16 19548520 19548520 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:19548520G>A uc002dgl.3 + 4 1776 c.1529G>A c.(1528-1530)AGC>AAC p.S510N CP110_uc002dgk.3_Missense_Mutation_p.S510N O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 510 Interaction with CEP76. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 CCATATGCCAGCAGTCAGTGT 0.453000 SCNN1G 6340 broad.mit.edu 37 16 23200994 23200994 + Splice_Site SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:23200994T>A uc002dlm.1 + 3 757 c.618_splice c.e3+2 p.L206_splice NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TTCCAACTGGTAAGATTTCAC 0.517000 SCNN1G 6340 broad.mit.edu 37 16 23205501 23205501 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:23205501G>A uc002dlm.1 + 5 958 c.819G>A c.(817-819)ACG>ACA p.T273T NM_001039 NP_001030 P51170 SCNNG_HUMAN sodium channel, nonvoltage-gated 1, gamma 273 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GGAATTTCACGCTTTTCCACC 0.488000 IRX6 79190 broad.mit.edu 37 16 55360314 55360314 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:55360314G>A uc002ehy.2 + 2 645 c.112G>A c.(112-114)GCA>ACA p.A38T IRX6_uc002ehx.2_Missense_Mutation_p.A38T|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CTCAGATGTGGCATCAGGCTC 0.622000 SLC6A2 6530 broad.mit.edu 37 16 55725948 55725948 + Missense_Mutation SNP G G A rs147833183 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:55725948G>A uc002eif.2 + 6 1013 c.902G>A c.(901-903)CGC>CAC p.R301H SLC6A2_uc010ccd.2_Missense_Mutation_p.R301H|SLC6A2_uc002eig.2_Missense_Mutation_p.R301H|SLC6A2_uc002eih.2_Missense_Mutation_p.R301H|SLC6A2_uc002eii.2_Missense_Mutation_p.R196H|SLC6A2_uc002eij.2_Intron NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 301 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GACTTCTACCGCTTGAAAGAG 0.542000 CDH11 1009 broad.mit.edu 37 16 65032498 65032498 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:65032498A>T uc002eoi.2 - 4 924 c.490T>A c.(490-492)TAT>AAT p.Y164N CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.Y164N|CDH11_uc010vin.1_Missense_Mutation_p.Y38N|CDH11_uc010vio.1_Missense_Mutation_p.Y164N NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 164 Cadherin 2.|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) TTGGCATGATAGGTCTCGTGC 0.592000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) KIAA0182 23199 broad.mit.edu 37 16 85691162 85691162 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:85691162G>A uc002fix.2 + 8 1666 c.1592G>A c.(1591-1593)CGG>CAG p.R531Q KIAA0182_uc002fiw.2_Missense_Mutation_p.R427Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R458Q NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 531 protein binding large_intestine(3)|ovary(1)|skin(1) 5 GATATGGGCCGGCCCCCGGTG 0.682000 ANKRD11 29123 broad.mit.edu 37 16 89350272 89350272 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:89350272C>T uc002fmx.1 - 9 3139 c.2678G>A c.(2677-2679)CGG>CAG p.R893Q ANKRD11_uc002fmy.1_Missense_Mutation_p.R893Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.R893Q|ANKRD11_uc002fnb.1_Missense_Mutation_p.R850Q NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 893 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTCCCGGGCCCGGCTGTCCCG 0.547000 GAS8 2622 broad.mit.edu 37 16 90094048 90094048 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:90094048C>T uc002fqi.1 + 2 130 c.8C>T c.(7-9)CCG>CTG p.P3L GAS8_uc010vps.1_5'UTR|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.P3L|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 3 Regulates microtubule-binding (By similarity). negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) CCAAAGGCACCGAAAAAGAAA 0.527000 GAS8 2622 broad.mit.edu 37 16 90106768 90106768 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:90106768C>T uc002fqi.1 + 9 1194 c.1072C>T c.(1072-1074)CAG>TAG p.Q358* GAS8_uc010vps.1_Nonsense_Mutation_p.Q333*|GAS8_uc002fqh.2_Nonsense_Mutation_p.Q275*|GAS8_uc010vpv.1_Nonsense_Mutation_p.Q329*|GAS8_uc010cjc.1_Nonsense_Mutation_p.Q275*|GAS8_uc010vpw.1_Nonsense_Mutation_p.Q275*|GAS8_uc002fqj.1_Nonsense_Mutation_p.Q166*|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 358 Potential. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) GGAGGTGCAGCAGAAGACAGG 0.622000 DHRS7C 201140 broad.mit.edu 37 17 9674955 9674955 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:9674955C>T uc010vvb.1 - 6 789 c.789G>A c.(787-789)ATG>ATA p.M263I DHRS7C_uc010cof.2_Missense_Mutation_p.M262I NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 263 extracellular region binding|oxidoreductase activity 0 GCACGGTGCGCATCACCTCCT 0.612000 NR1D1 9572 broad.mit.edu 37 17 38252140 38252140 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:38252140A>C uc002htz.1 - 5 1431 c.805T>G c.(805-807)TTT>GTT p.F269V NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 269 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) TGTTGTGGAAACTGGGAGAAG 0.667000 KRT35 3886 broad.mit.edu 37 17 39633826 39633826 + Silent SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:39633826G>C uc002hws.2 - 6 1207 c.1164C>G c.(1162-1164)GCC>GCG p.A388A NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 388 Rod.|Coil 2. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) ACTCCAGCCGGGCCCGGACGT 0.602000 KRT36 8689 broad.mit.edu 37 17 39643639 39643639 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:39643639G>A uc002hwt.2 - 5 951 c.951C>T c.(949-951)AAC>AAT p.N317N NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 317 Rod.|Coil 2. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TCTCTAGCGCGTTGACCGTAC 0.627000 KRT17 3872 broad.mit.edu 37 17 39776787 39776787 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:39776787C>T uc002hxh.2 - 7 1325 c.1204_splice c.e7+1 p.P402_splice JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) CAGATACTTACGTTCTTTCTT 0.572000 Steatocystoma_Multiplex COASY 80347 broad.mit.edu 37 17 40714969 40714970 + Missense_Mutation DNP CG CG TT TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:40714969_40714970CG>TT uc002hzz.2 + 2 486_487 c.329_330CG>TT c.(328-330)CCG>CTT p.P110L COASY_uc010cyj.2_Missense_Mutation_p.P139L|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.P110L|COASY_uc002iac.2_Missense_Mutation_p.P110L|COASY_uc002iae.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 110 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTCGCCCACCCGCCAGAAGTCG 0.554000 WNK4 65266 broad.mit.edu 37 17 40939912 40939912 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:40939912C>A uc002ibj.2 + 8 1879 c.1858C>A c.(1858-1860)CCC>ACC p.P620T WNK4_uc010wgx.1_Missense_Mutation_p.P284T|WNK4_uc002ibk.1_Missense_Mutation_p.P392T|WNK4_uc010wgy.1_Intron NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 620 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCTCTGCCTGCCCTCGGTGAG 0.627000 WNK4 65266 broad.mit.edu 37 17 40946850 40946850 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:40946850C>T uc002ibj.2 + 14 2432 c.2411C>T c.(2410-2412)TCA>TTA p.S804L WNK4_uc010wgx.1_Missense_Mutation_p.S468L|WNK4_uc002ibk.1_Missense_Mutation_p.S576L NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 804 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCCACCTCCTCATCTTCTCCT 0.567000 AARSD1 80755 broad.mit.edu 37 17 41116247 41116247 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:41116247G>C uc002icc.2 - 2 50 c.47C>G c.(46-48)ACC>AGC p.T16S AARSD1_uc002icd.2_Missense_Mutation_p.T129S|AARSD1_uc002ice.2_Missense_Mutation_p.T99S|AARSD1_uc002icf.2_Missense_Mutation_p.T190S|AARSD1_uc010whg.1_Missense_Mutation_p.T190S|AARSD1_uc010cyu.1_Missense_Mutation_p.T16S NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 16 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GACCACGGTGGTGGTGAACTG 0.468000 IMP5 162540 broad.mit.edu 37 17 43922821 43922821 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:43922821C>T uc010wka.1 + 1 549 c.549C>T c.(547-549)ATC>ATT p.I183I LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 183 Extracellular (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) AGCCCATCATCGACTACAACA 0.637000 MAPT 4137 broad.mit.edu 37 17 44101420 44101420 + Silent SNP G G A rs116567476 by1000genomes TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:44101420G>A uc002ijr.3 + 14 2480 c.2160G>A c.(2158-2160)ACG>ACA p.T720T MAPT_uc010dau.2_Silent_p.T738T|MAPT_uc002ijs.3_Silent_p.T403T|MAPT_uc002ijx.3_Silent_p.T374T|MAPT_uc002ijt.3_Silent_p.T345T|MAPT_uc002iju.3_Silent_p.T314T|MAPT_uc002ijv.3_Silent_p.T321T NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 720 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CTGGGGACACGTCTCCACGGC 0.607000 CD79B 974 broad.mit.edu 37 17 62007664 62007664 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:62007664A>G uc002jdq.1 - 3 283 c.200T>C c.(199-201)ATG>ACG p.M67T CD79B_uc002jdo.1_Missense_Mutation_p.M41T|CD79B_uc002jdp.1_Missense_Mutation_p.M68T|CD79B_uc002jdr.1_Intron NM_000626 NP_000617 P40259 CD79B_HUMAN CD79B antigen isoform 1 precursor 67 Extracellular (Potential).|Ig-like V-type. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity 0 GGCGCTGTTCATGTAGCAGTG 0.582000 Mis|O DLBCL MAP2K6 5608 broad.mit.edu 37 17 67519770 67519770 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:67519770A>G uc002jij.2 + 8 939 c.651A>G c.(649-651)AAA>AAG p.K217K NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 217 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) CAGGTTGCAAACCATACATGG 0.453000 AANAT 15 broad.mit.edu 37 17 74464954 74464954 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:74464954G>T uc002jro.2 + 2 360 c.126G>T c.(124-126)CCG>CCT p.P42P AANAT_uc010wte.1_RNA NM_001088 NP_001079 Q16613 SNAT_HUMAN arylalkylamine N-acetyltransferase 42 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity 0 GCCTCACCCCGGAGGACGCTG 0.647000 TBC1D16 125058 broad.mit.edu 37 17 77926603 77926603 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:77926603G>A uc002jxj.2 - 4 910 c.794C>T c.(793-795)TCC>TTC p.S265F TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 265 Ser-rich. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GCCGGCGTCGGAGCTGGACGG 0.672000 DCC 1630 broad.mit.edu 37 18 50994306 50994306 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr18:50994306A>G uc002lfe.1 + 25 4249 c.3662A>G c.(3661-3663)GAG>GGG p.E1221G DCC_uc010dpf.1_Missense_Mutation_p.E856G NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1221 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCACTCTGGAGAGGTCGCTG 0.522000 MKNK2 2872 broad.mit.edu 37 19 2046617 2046617 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:2046617C>T uc002lus.2 - 3 370 c.125G>A c.(124-126)TGC>TAC p.C42Y MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Missense_Mutation_p.C42Y NM_199054 NP_951009 Q9HBH9 MKNK2_HUMAN MAP kinase-interacting serine/threonine kinase 2 42 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity lung(1)|breast(1) 2 Ovarian(11;2.11e-07)|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) GCGGGCTGAGCACTGCAGGCC 0.706000 THOP1 7064 broad.mit.edu 37 19 2807486 2807486 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:2807486G>A uc002lwj.2 + 8 1088 c.933G>A c.(931-933)GCG>GCA p.A311A THOP1_uc010xgz.1_Silent_p.A190A|THOP1_uc002lwk.2_5'Flank NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 311 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGAGCGTGCGGTGATTCTGG 0.682000 ZNF560 147741 broad.mit.edu 37 19 9578389 9578389 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:9578389C>G uc002mlp.1 - 10 1444 c.1234G>C c.(1234-1236)GCC>CCC p.A412P ZNF560_uc010dwr.1_Missense_Mutation_p.A306P NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 412 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 GTACCAAAGGCTTTACCACAT 0.448000 RYR1 6261 broad.mit.edu 37 19 39008073 39008073 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:39008073G>A uc002oit.2 + 66 9890 c.9760G>A c.(9760-9762)GGG>AGG p.G3254R RYR1_uc002oiu.2_Missense_Mutation_p.G3254R|RYR1_uc002oiv.1_Missense_Mutation_p.G174R|RYR1_uc010xuf.1_Missense_Mutation_p.G174R NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3254 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCAGACATTGGGGGGCTGGC 0.652000 DLL3 10683 broad.mit.edu 37 19 39998199 39998199 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:39998199C>T uc002olx.2 + 7 1672 c.1614C>T c.(1612-1614)CAC>CAT p.H538H DLL3_uc002olw.2_Silent_p.H538H NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 538 Cytoplasmic (Potential). Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGTCAGTCCACGCACTCCCGG 0.692000 CCDC8 83987 broad.mit.edu 37 19 46915929 46915929 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:46915929C>T uc002pep.2 - 1 991 c.139G>A c.(139-141)GAA>AAA p.E47K NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 47 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) cggccctcttcttccaggaac 0.169000 ZNF615 284370 broad.mit.edu 37 19 52496650 52496650 + Missense_Mutation SNP C C T rs147205148 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:52496650C>T uc002pye.1 - 6 1971 c.1679G>A c.(1678-1680)CGC>CAC p.R560H ZNF615_uc002pyf.1_Missense_Mutation_p.R571H|ZNF615_uc002pyg.1_Missense_Mutation_p.R452H|ZNF615_uc002pyh.1_Missense_Mutation_p.R571H|ZNF615_uc010epi.1_Missense_Mutation_p.R567H|ZNF615_uc010ydg.1_Missense_Mutation_p.R565H NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 560 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGTATGAGTGCGCCGATGTAC 0.448000 AURKC 6795 broad.mit.edu 37 19 57743527 57743527 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:57743527G>A uc002qoe.2 + 3 420 c.231G>A c.(229-231)TCG>TCA p.S77S AURKC_uc002qoc.2_Silent_p.S58S|AURKC_uc002qod.2_Silent_p.S43S|AURKC_uc010etv.2_Silent_p.S74S NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 77 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 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;0.0122) TCTTCAAGTCGCAGATAGAGA 0.517000 GREB1 9687 broad.mit.edu 37 2 11770190 11770190 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:11770190T>C uc002rbk.1 + 26 4866 c.4566T>C c.(4564-4566)CCT>CCC p.P1522P GREB1_uc002rbp.1_Silent_p.P520P NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1522 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCAGCCAACCTGGAGGCCAGC 0.552000 NTSR2 23620 broad.mit.edu 37 2 11802131 11802131 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:11802131C>T uc002rbq.3 - 2 934 c.860G>A c.(859-861)CGC>CAC p.R287H NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 287 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GCGGATCCGGCGCACGTCTTT 0.488000 TRIB2 28951 broad.mit.edu 37 2 12880542 12880542 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:12880542C>T uc002rbv.3 + 3 2090 c.654C>T c.(652-654)TAC>TAT p.Y218Y TRIB2_uc010yjp.1_Silent_p.Y82Y NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 218 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCCCGGCTTACGTAAGCCCAG 0.582000 NT5C1B 93034 broad.mit.edu 37 2 18757571 18757571 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:18757571C>T uc002rcz.2 - 9 1492 c.1388G>A c.(1387-1389)CGT>CAT p.R463H NT5C1B_uc002rcy.2_Missense_Mutation_p.R463H|NT5C1B_uc010exr.2_Missense_Mutation_p.R405H|NT5C1B_uc010yju.1_Missense_Mutation_p.R403H|NT5C1B_uc002rda.2_Missense_Mutation_p.R403H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R480H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R446H|NT5C1B_uc010exs.2_Missense_Mutation_p.R465H NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 463 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) AAAGGCTACACGGAGCTGAGT 0.443000 APOB 338 broad.mit.edu 37 2 21250815 21250815 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:21250815G>T uc002red.2 - 14 2080 c.1952C>A c.(1951-1953)GCC>GAC p.A651D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 651 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGGCTGAGGCTGGGTCAAG 0.398000 SIX3 6496 broad.mit.edu 37 2 45171770 45171770 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:45171770G>A uc002run.1 + 2 1077 c.870G>A c.(868-870)ACG>ACA p.T290T NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 290 visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCTGCCCCACGCACGGCTCGG 0.716000 ALMS1 7840 broad.mit.edu 37 2 73677634 73677634 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:73677634C>T uc002sje.1 + 10 4094 c.3983C>T c.(3982-3984)CCA>CTA p.P1328L ALMS1_uc002sjf.1_Missense_Mutation_p.P1284L|ALMS1_uc002sjg.2_Missense_Mutation_p.P714L|ALMS1_uc002sjh.1_Missense_Mutation_p.P714L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1326 17.|34 X 47 AA approximate tandem repeat. 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 ACTGTGATACCAATTTTACCC 0.443000 SNRNP200 23020 broad.mit.edu 37 2 96953698 96953698 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:96953698G>A uc002svu.2 - 25 3354 c.3268C>T c.(3268-3270)CGG>TGG p.R1090W SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.R162W NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1090 SEC63 1. R -> L (in RP33). catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CGCATCAACCGGCCAGCCGAC 0.507000 CNTNAP5 129684 broad.mit.edu 37 2 125262120 125262120 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:125262120T>C uc002tno.2 + 8 1675 c.1311T>C c.(1309-1311)GCT>GCC p.A437A CNTNAP5_uc010flu.2_Silent_p.A438A NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 437 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AACGCGTAGCTGAAATCCTCA 0.493000 UGGT1 56886 broad.mit.edu 37 2 128932357 128932357 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:128932357A>C uc002tps.2 + 31 3642 c.3464A>C c.(3463-3465)CAG>CCG p.Q1155P UGGT1_uc002tpr.2_Missense_Mutation_p.Q1131P NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1155 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 GGCTACTTTCAGCTGAAAGCC 0.393000 LRP1B 53353 broad.mit.edu 37 2 141027915 141027915 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:141027915G>T uc002tvj.1 - 86 14115 c.13143C>A c.(13141-13143)AAC>AAA p.N4381K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4381 Extracellular (Potential). 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) CATTAGTGCAGCTGCAACAAC 0.398000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141356374 141356374 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:141356374T>G uc002tvj.1 - 43 7992 c.7020A>C c.(7018-7020)CAA>CAC p.Q2340H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2340 Extracellular (Potential).|LDL-receptor class B 25. 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) TACTTGGATGTTGTTCATTCC 0.338000 TSP Lung(27;0.18) GALNT13 114805 broad.mit.edu 37 2 155115555 155115555 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:155115555C>A uc002tyr.3 + 8 1446 c.879C>A c.(877-879)GGC>GGA p.G293G GALNT13_uc002tyt.3_Silent_p.G293G|GALNT13_uc010foc.1_Silent_p.G112G|GALNT13_uc010fod.2_Silent_p.G46G NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 293 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGGCTGGTGGCCTATTTTCTA 0.358000 SCN3A 6328 broad.mit.edu 37 2 166010963 166010963 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:166010963T>C uc002ucx.2 - 11 1871 c.1379A>G c.(1378-1380)CAG>CGG p.Q460R SCN3A_uc002ucy.2_Missense_Mutation_p.Q460R|SCN3A_uc002ucz.2_Missense_Mutation_p.Q460R|SCN3A_uc002uda.1_Missense_Mutation_p.Q329R|SCN3A_uc002udb.1_Missense_Mutation_p.Q329R NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 460 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ACTCAGTACCTGAGCTTCTTC 0.368000 SCN1A 6323 broad.mit.edu 37 2 166848165 166848165 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:166848165G>A uc010zcz.1 - 26 5605 c.5587C>T c.(5587-5589)CGG>TGG p.R1863W NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1874 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCTAGAACCCGCTTTGTAAAA 0.473000 SCN9A 6335 broad.mit.edu 37 2 167089905 167089905 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:167089905C>T uc010fpl.2 - 21 4177 c.3836G>A c.(3835-3837)CGG>CAG p.R1279Q uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1290 Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).|III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTCAGTGTCCGAAGGGATTT 0.343000 FASTKD1 79675 broad.mit.edu 37 2 170411638 170411638 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:170411638G>A uc002uev.3 - 7 1598 c.1210C>T c.(1210-1212)CTT>TTT p.L404F FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.L390F NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 404 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 TCTTACCTAAGCAGTAATTCT 0.318000 MAP1D 254042 broad.mit.edu 37 2 172945099 172945099 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:172945099G>A uc002uhk.2 + 10 1046 c.973G>A c.(973-975)GCG>ACG p.A325T MAP1D_uc010zdw.1_Missense_Mutation_p.A207T NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 325 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) GTCGAGGGGCGCGCAGATCCT 0.602000 AGPS 8540 broad.mit.edu 37 2 178386012 178386012 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:178386012C>T uc002ull.2 + 18 1760 c.1713C>T c.(1711-1713)TAC>TAT p.Y571Y AGPS_uc010zfb.1_Silent_p.Y481Y NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 571 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) CGCAGACTTACGATGCAGGTG 0.398000 TTN 7273 broad.mit.edu 37 2 179430415 179430415 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:179430415T>C uc010zfg.1 - 275 72964 c.72740A>G c.(72739-72741)TAC>TGC p.Y24247C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y17942C|TTN_uc010zfi.1_Missense_Mutation_p.Y17875C|TTN_uc010zfj.1_Missense_Mutation_p.Y17750C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25174 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) TTCAACAACGTACCCCAGGAC 0.473000 ZNF385B 151126 broad.mit.edu 37 2 180634389 180634389 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:180634389G>T uc002unn.3 - 3 698 c.94C>A c.(94-96)CTT>ATT p.L32I NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 32 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) AAGGAGAAAAGAATTTTCTTT 0.473000 MARCH4 57574 broad.mit.edu 37 2 217234856 217234856 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:217234856C>T uc002vgb.2 - 1 1895 c.128G>A c.(127-129)CGC>CAC p.R43H NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 43 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GAAGAGCATGCGGCAGCGGCA 0.652000 CCDC108 255101 broad.mit.edu 37 2 219894339 219894339 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:219894339A>C uc002vjl.1 - 11 1520 c.1436T>G c.(1435-1437)CTT>CGT p.L479R CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.L468R|CCDC108_uc010zkq.1_Missense_Mutation_p.L414R NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 479 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) GCGCTCCCCAAGGTTGACCCA 0.557000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) EPHA4 2043 broad.mit.edu 37 2 222301249 222301249 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:222301249T>A uc002vmq.2 - 13 2258 c.2216A>T c.(2215-2217)GAT>GTT p.D739V EPHA4_uc002vmr.2_Missense_Mutation_p.D739V|EPHA4_uc010zlm.1_Missense_Mutation_p.D680V|EPHA4_uc010zln.1_Missense_Mutation_p.D739V NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 739 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ATAGCTCATATCAGATAAATA 0.478000 COL4A3 1285 broad.mit.edu 37 2 228173944 228173944 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:228173944G>A uc002vom.1 + 50 4827 c.4665G>A c.(4663-4665)GCG>GCA p.A1555A COL4A3_uc002von.1_Silent_p.A1555A|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1555 Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAGGTCCTGCGATCGCCATAG 0.468000 SPHKAP 80309 broad.mit.edu 37 2 228860405 228860405 + Missense_Mutation SNP C C G rs141675542 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:228860405C>G uc002vpq.2 - 8 4501 c.4454G>C c.(4453-4455)AGC>ACC p.S1485T SPHKAP_uc002vpp.2_Missense_Mutation_p.S1485T|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1485 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGTATCAAGGCTGTCACTGTA 0.537000 SP110 3431 broad.mit.edu 37 2 231077646 231077646 + Missense_Mutation SNP G G A rs114017623 by1000genomes TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:231077646G>A uc002vqh.3 - 4 653 c.413C>T c.(412-414)GCG>GTG p.A138V SP110_uc002vqg.3_Missense_Mutation_p.A138V|SP110_uc002vqi.3_Missense_Mutation_p.A138V|SP110_uc010fxk.2_Missense_Mutation_p.A138V NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 138 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TGGGGGCAGCGCCAGTGGGGT 0.572000 SIGLEC1 6614 broad.mit.edu 37 20 3670819 3670819 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:3670819C>T uc002wja.2 - 18 4684 c.4684G>A c.(4684-4686)GCC>ACC p.A1562T SIGLEC1_uc002wjb.1_Missense_Mutation_p.A201T|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1562T NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1562 Ig-like C2-type 16.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GTCAGGCTGGCGAGCGGCTCG 0.657000 LRRN4 164312 broad.mit.edu 37 20 6033406 6033406 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:6033406G>A uc002wmo.2 - 2 264 c.40C>T c.(40-42)CGC>TGC p.R14C LRRN4_uc002wmp.2_Missense_Mutation_p.R14C NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 14 integral to membrane skin(3) 3 CAGCTGGGGCGCAGCACCGTC 0.672000 PLCB1 23236 broad.mit.edu 37 20 8665706 8665706 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:8665706G>A uc002wnb.2 + 10 993 c.990G>A c.(988-990)TCG>TCA p.S330S PLCB1_uc010zrb.1_Silent_p.S229S|PLCB1_uc002wna.2_Silent_p.S330S|PLCB1_uc002wnc.1_Silent_p.S229S NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 330 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TTAATTCCTCGCACAACACCT 0.418000 ISM1 140862 broad.mit.edu 37 20 13279607 13279607 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:13279607G>A uc010gce.1 + 6 902 c.896G>A c.(895-897)CGC>CAC p.R299H TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 299 AMOP. extracellular region 0 AGCTGTGAGCGCTGGATGAGC 0.557000 KIF3B 9371 broad.mit.edu 37 20 30919058 30919058 + Missense_Mutation SNP C C T rs141907829 by1000genomes TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:30919058C>T uc002wxq.2 + 9 2347 c.2180C>T c.(2179-2181)TCC>TTC p.S727F KIF3B_uc010ztw.1_Missense_Mutation_p.S665F NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 727 Poly-Ser.|Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGATCCTCCTCCTCTTCCTCA 0.498000 C20orf117 140710 broad.mit.edu 37 20 35467810 35467810 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:35467810T>C uc002xgd.1 - 2 335 c.8A>G c.(7-9)GAG>GGG p.E3G NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 3 0 Myeloproliferative disorder(115;0.00874) GTCCCGCATCTCCAGCATCTC 0.627000 SLC32A1 140679 broad.mit.edu 37 20 37356767 37356767 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:37356767G>A uc002xjc.2 + 2 1326 c.1063G>A c.(1063-1065)GCG>ACG p.A355T NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 355 Helical; (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) GGGCCTCTTCGCGCTCGTCGC 0.622000 MMP9 4318 broad.mit.edu 37 20 44640827 44640827 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:44640827C>A uc002xqz.2 + 7 1068 c.1049C>A c.(1048-1050)CCC>CAC p.P350H NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 350 Fibronectin type-II 3. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TGCGTCTTCCCCTTCACTTTC 0.607000 ZNFX1 57169 broad.mit.edu 37 20 47866105 47866105 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:47866105G>A uc002xui.2 - 14 3703 c.3456C>T c.(3454-3456)TCC>TCT p.S1152S NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1152 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGGTGATCTGGGAAGGCAGGT 0.527000 PPP1R3D 5509 broad.mit.edu 37 20 58514447 58514447 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:58514447C>T uc002ybb.2 - 1 906 c.540G>A c.(538-540)GAG>GAA p.E180E C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 180 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) AAGTGACACGCTCCAGGCACA 0.662000 NTSR1 4923 broad.mit.edu 37 20 61341129 61341129 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr20:61341129C>T uc002ydf.2 + 1 941 c.570C>T c.(568-570)AGC>AGT p.S190S NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 190 Helical; Name=4; (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) AGTTCATCAGCGCCATCTGGC 0.662000 NCAM2 4685 broad.mit.edu 37 21 22782720 22782720 + Nonsense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr21:22782720T>A uc002yld.1 + 10 1571 c.1322T>A c.(1321-1323)TTA>TAA p.L441* NCAM2_uc011acb.1_Nonsense_Mutation_p.L299* NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 441 Ig-like C2-type 5.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAATTAGTCTTACCTGCTAAA 0.313000 SEC14L3 266629 broad.mit.edu 37 22 30857304 30857304 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:30857304G>A uc003ahy.2 - 11 1163 c.1074C>T c.(1072-1074)GCC>GCT p.A358A SEC14L3_uc003ahz.2_Silent_p.A281A|SEC14L3_uc003aia.2_Silent_p.A299A|SEC14L3_uc003aib.2_Silent_p.A299A NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 358 GOLD. integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) TACAGACGCCGGCCTCTGAGC 0.607000 TST 7263 broad.mit.edu 37 22 37407215 37407215 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:37407215G>A uc003aqg.2 - 2 1447 c.747C>T c.(745-747)CGC>CGT p.R249R TST_uc003aqh.2_Silent_p.R249R NM_003312 NP_003303 Q16762 THTR_HUMAN thiosulfate sulfurtransferase 249 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity 0 TGACTCCCTTGCGGCACGTGG 0.627000 TMPRSS6 164656 broad.mit.edu 37 22 37499393 37499393 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:37499393G>A uc003aqs.1 - 2 206 c.92C>T c.(91-93)GCG>GTG p.A31V TMPRSS6_uc003aqt.1_Missense_Mutation_p.A22V|TMPRSS6_uc003aqu.2_Missense_Mutation_p.A22V NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 31 Cytoplasmic (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 CTCCGGCTCCGCTTCCTCGCC 0.662000 ELFN2 114794 broad.mit.edu 37 22 37769679 37769679 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:37769679C>T uc003asq.3 - 3 2682 c.1896G>A c.(1894-1896)TCG>TCA p.S632S NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 632 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) AACCACTGGACGACACGCTGC 0.642000 SOX10 6663 broad.mit.edu 37 22 38373971 38373971 + Silent SNP G G A rs143057951 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:38373971G>A uc003aun.1 - 3 878 c.600C>T c.(598-600)ACC>ACT p.T200T POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.T200T NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 200 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) GGATGGCGGCGGTCCCACCTT 0.701000 ZBED4 9889 broad.mit.edu 37 22 50280130 50280130 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:50280130C>T uc003bix.2 + 2 3290 c.2820C>T c.(2818-2820)TTC>TTT p.F940F NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 940 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TAAAGCCCTTCGAGGCTGCGA 0.592000 MLC1 23209 broad.mit.edu 37 22 50506890 50506890 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr22:50506890A>T uc003bjg.1 - 10 1139 c.866T>A c.(865-867)ATG>AAG p.M289K MLC1_uc011arl.1_Missense_Mutation_p.M237K|MLC1_uc003bjh.1_Missense_Mutation_p.M289K|MLC1_uc011arm.1_Missense_Mutation_p.M259K|MLC1_uc011arn.1_Missense_Mutation_p.M210K|MLC1_uc011aro.1_Missense_Mutation_p.M255K NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 289 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) ATCCTTAAACATCTCCACGAT 0.512000 NCKIPSD 51517 broad.mit.edu 37 3 48718855 48718855 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:48718855C>T uc003cun.2 - 5 1051 c.957G>A c.(955-957)CTG>CTA p.L319L NCKIPSD_uc003cum.2_Silent_p.L312L|NCKIPSD_uc010hkh.1_Silent_p.L319L NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 319 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TTCTCCGCACCAGCTCCATCA 0.637000 CISH 1154 broad.mit.edu 37 3 50645297 50645297 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:50645297C>T uc003dax.2 - 3 699 c.518G>A c.(517-519)AGC>AAC p.S173N CISH_uc010hlq.2_Missense_Mutation_p.S190N NM_145071 NP_659508 Q9NSE2 CISH_HUMAN cytokine-inducible SH2-containing protein 173 intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GGGGCTGTCGCTTCGGGTATC 0.627000 PRICKLE2 166336 broad.mit.edu 37 3 64139012 64139012 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:64139012C>T uc003dmf.2 - 6 1219 c.633G>A c.(631-633)GAG>GAA p.E211E NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 211 LIM zinc-binding 2. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) AGTGTCGCCCCTCAGCTTCTG 0.498000 ROBO2 6092 broad.mit.edu 37 3 77542474 77542474 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:77542474A>G uc003dpy.3 + 5 1390 c.747A>G c.(745-747)CAA>CAG p.Q249Q ROBO2_uc003dpz.2_Silent_p.Q249Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.Q249Q NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 249 Ig-like C2-type 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GTCAAGTCCAAGGAGATCCTC 0.418000 GABRR3 200959 broad.mit.edu 37 3 97731269 97731269 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:97731269T>C uc011bgr.1 - 4 449 c.449A>G c.(448-450)AAA>AGA p.K150R NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 150 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 GAAGGATCTTTTAGAGTGGAC 0.438000 DPPA4 55211 broad.mit.edu 37 3 109046852 109046852 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:109046852T>G uc003dxq.3 - 7 953 c.898A>C c.(898-900)AGC>CGC p.S300R DPPA4_uc011bho.1_3'UTR NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 300 nucleus protein binding upper_aerodigestive_tract(1) 1 CATTGGAGGCTTTTTATTAAG 0.368000 PHLDB2 90102 broad.mit.edu 37 3 111603429 111603429 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:111603429G>C uc010hqa.2 + 2 916 c.505G>C c.(505-507)GGT>CGT p.G169R PHLDB2_uc003dyc.2_Missense_Mutation_p.G196R|PHLDB2_uc003dyd.2_Missense_Mutation_p.G169R|PHLDB2_uc003dyg.2_Missense_Mutation_p.G169R|PHLDB2_uc003dyh.2_Missense_Mutation_p.G169R|PHLDB2_uc003dye.3_Missense_Mutation_p.G169R|PHLDB2_uc003dyf.3_Missense_Mutation_p.G169R NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 169 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGGGCTGGAAGGTCGGAAGGC 0.552000 MYLK 4638 broad.mit.edu 37 3 123375981 123375981 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:123375981T>G uc003ego.2 - 24 4562 c.4280A>C c.(4279-4281)AAA>ACA p.K1427T MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.K227T|MYLK_uc011bjw.1_Missense_Mutation_p.K1427T|MYLK_uc003egp.2_Missense_Mutation_p.K1358T|MYLK_uc003egq.2_Missense_Mutation_p.K1427T|MYLK_uc003egr.2_Missense_Mutation_p.K1358T|MYLK_uc003egs.2_Missense_Mutation_p.K1251T NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1427 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACCTTCAGGTTTCTCTCCTAC 0.478000 ALDH1L1 10840 broad.mit.edu 37 3 125877314 125877314 + Missense_Mutation SNP C C T rs139977408 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:125877314C>T uc003eim.1 - 3 486 c.296G>A c.(295-297)CGG>CAG p.R99Q ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.R99Q|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.R125Q|ALDH1L1_uc003eip.1_Missense_Mutation_p.R8Q|ALDH1L1_uc011bkj.1_Intron NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 99 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GGAGCCATGCCGGGGGGCACT 0.597000 ZIC1 7545 broad.mit.edu 37 3 147127956 147127956 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:147127956G>A uc003ewe.2 + 1 776 c.57G>A c.(55-57)GCG>GCA p.A19A NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 19 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A19A(1) ovary(1)|central_nervous_system(1) 2 CCTTTGGCGCGTCCCGCCACC 0.731000 MED12L 116931 broad.mit.edu 37 3 151082925 151082925 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:151082925C>T uc003eyp.2 + 20 3049 c.3011C>T c.(3010-3012)GCG>GTG p.A1004V MED12L_uc011bnz.1_Missense_Mutation_p.A864V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A167V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1004 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) AGTGACAATGCGGCCAATCGC 0.473000 IFT80 57560 broad.mit.edu 37 3 159995162 159995162 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:159995162T>C uc011boy.1 - 18 2464 c.2031A>G c.(2029-2031)ATA>ATG p.I677M IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.I540M|IFT80_uc003fdd.1_Missense_Mutation_p.I360M|IFT80_uc003fde.1_Missense_Mutation_p.I540M NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 677 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAAGAAGTACTATTTCAGCCT 0.353000 USP13 8975 broad.mit.edu 37 3 179462842 179462842 + Missense_Mutation SNP G G A rs144016604 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:179462842G>A uc003fkh.2 + 13 1627 c.1546G>A c.(1546-1548)GCT>ACT p.A516T USP13_uc003fkf.2_Missense_Mutation_p.A516T NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 516 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TGAACTGATCGCTTATGAACT 0.483000 TP63 8626 broad.mit.edu 37 3 189584565 189584565 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:189584565G>A uc003fry.2 + 6 950 c.861G>A c.(859-861)CTG>CTA p.L287L TP63_uc003frx.2_Silent_p.L287L|TP63_uc003frz.2_Silent_p.L287L|TP63_uc010hzc.1_Silent_p.L287L|TP63_uc003fsa.2_Silent_p.L193L|TP63_uc003fsb.2_Silent_p.L193L|TP63_uc003fsc.2_Silent_p.L193L|TP63_uc003fsd.2_Silent_p.L193L|TP63_uc010hzd.1_Silent_p.L108L|TP63_uc003fse.1_Silent_p.L168L NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 287 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGAGTGTGCTGGTACCTTATG 0.463000 Hay-Wells_syndrome HNSCC(45;0.13) FGF12 2257 broad.mit.edu 37 3 191888291 191888291 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:191888291T>C uc003fsx.2 - 4 1395 c.569A>G c.(568-570)AAG>AGG p.K190R FGF12_uc003fsy.2_Missense_Mutation_p.K128R NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 190 K -> E (in Ref. 2; AAB18786). cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) CTTGGTTTTCTTCACTCTGTT 0.428000 C3orf43 255798 broad.mit.edu 37 3 196242124 196242124 + Translation_Start_Site SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:196242124A>T uc003fws.2 - 1 114 c.-43T>A c.(-45--41)TTTTG>TTATG C3orf43_uc003fwr.2_Translation_Start_Site NM_001077657 NP_001071125 Q147U7 CC043_HUMAN hypothetical protein LOC255798 integral to membrane ovary(1) 1 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00298) aagcaaaacaaaaaaagcaaT 0.348000 PDS5A 23244 broad.mit.edu 37 4 39910138 39910138 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:39910138A>G uc003guv.3 - 11 1650 c.1110T>C c.(1108-1110)CAT>CAC p.H370H PDS5A_uc010ifo.2_Silent_p.H330H|PDS5A_uc003guw.3_Silent_p.H370H NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 370 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 CTTCTGGATCATGTGATCTAA 0.343000 ANKRD17 26057 broad.mit.edu 37 4 73984530 73984530 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:73984530T>C uc003hgp.2 - 22 4180 c.4063A>G c.(4063-4065)ACT>GCT p.T1355A ANKRD17_uc003hgo.2_Missense_Mutation_p.T1242A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1104A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1354A|ANKRD17_uc011cbd.1_Missense_Mutation_p.T920A NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1355 ANK 24. 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) CACAATGGAGTGTTCCCCTTC 0.393000 SEC31A 22872 broad.mit.edu 37 4 83784523 83784523 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:83784523C>T uc003hnf.2 - 12 1621 c.1457G>A c.(1456-1458)CGT>CAT p.R486H SEC31A_uc003hne.2_Missense_Mutation_p.R258H|SEC31A_uc011ccl.1_Missense_Mutation_p.R486H|SEC31A_uc003hnl.2_Missense_Mutation_p.R486H|SEC31A_uc003hng.2_Missense_Mutation_p.R486H|SEC31A_uc003hnh.2_Missense_Mutation_p.R486H|SEC31A_uc003hni.2_Missense_Mutation_p.R486H|SEC31A_uc003hnj.2_Missense_Mutation_p.R486H|SEC31A_uc011ccm.1_Missense_Mutation_p.R481H|SEC31A_uc011ccn.1_Missense_Mutation_p.R486H|SEC31A_uc003hnk.2_Missense_Mutation_p.R486H|SEC31A_uc003hnm.2_Missense_Mutation_p.R486H|SEC31A_uc003hnn.1_Missense_Mutation_p.R486H|SEC31A_uc003hno.2_Missense_Mutation_p.R486H NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 486 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) GTATTTTCCACGAGAATCATC 0.308000 FAT4 79633 broad.mit.edu 37 4 126336957 126336957 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:126336957T>A uc003ifj.3 + 5 6839 c.6839T>A c.(6838-6840)CTT>CAT p.L2280H FAT4_uc011cgp.1_Missense_Mutation_p.L578H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2280 Extracellular (Potential).|Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGAACAATTCTTCAGGTCAGT 0.358000 LRAT 9227 broad.mit.edu 37 4 155665763 155665763 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:155665763G>C uc003iom.1 + 1 612 c.285G>C c.(283-285)AAG>AAC p.K95N uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.K95N NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 95 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) TCTCCAACAAGCGTCTCATCC 0.577000 CPE 1363 broad.mit.edu 37 4 166385547 166385547 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:166385547C>T uc003irg.3 + 2 590 c.313C>T c.(313-315)CCT>TCT p.P105S NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 105 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTAGGTGAGCCTGAATTTAA 0.378000 OREG0016390 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HAND2 9464 broad.mit.edu 37 4 174450016 174450016 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr4:174450016C>T uc003ith.1 - 1 1363 c.425G>A c.(424-426)CGC>CAC p.R142H NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 142 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGTGGCCAGGCGCAGGGTCTT 0.612000 LPCAT1 79888 broad.mit.edu 37 5 1466949 1466949 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:1466949G>A uc003jcm.2 - 13 1452 c.1335C>T c.(1333-1335)CTC>CTT p.L445L LPCAT1_uc003jcl.2_Silent_p.L19L NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 445 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) GGGCCGTCTTGAGGATGCAGG 0.622000 IRX2 153572 broad.mit.edu 37 5 2748955 2748955 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:2748955G>A uc003jda.2 - 3 1109 c.867C>T c.(865-867)ACC>ACT p.T289T IRX2_uc003jdb.2_Silent_p.T289T NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 289 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CCTCCAAGCCGGTAAGCGGCG 0.552000 HMGCS1 3157 broad.mit.edu 37 5 43298855 43298855 + Silent SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:43298855A>G uc003jnr.3 - 3 420 c.213T>C c.(211-213)ACT>ACC p.T71T HMGCS1_uc003jnq.3_Silent_p.T71T NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 71 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 TCTGAACCACAGTCATGCAAA 0.428000 CMYA5 202333 broad.mit.edu 37 5 79025857 79025857 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:79025857G>T uc003kgc.2 + 2 1341 c.1269G>T c.(1267-1269)AAG>AAT p.K423N NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 423 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATGAGGTAAAGAAGGAAGATG 0.478000 EPB41L4A 64097 broad.mit.edu 37 5 111504783 111504783 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:111504783G>A uc003kpv.1 - 21 2033 c.1759C>T c.(1759-1761)CGC>TGC p.R587C EPB41L4A_uc003kpp.1_Missense_Mutation_p.R214C|EPB41L4A_uc003kpu.1_RNA NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 587 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TGCCTGATGCGGATTGGGTCA 0.473000 SEMA6A 57556 broad.mit.edu 37 5 115783307 115783307 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:115783307T>C uc010jck.2 - 19 2804 c.2095A>G c.(2095-2097)ATG>GTG p.M699V SEMA6A_uc003krx.3_Missense_Mutation_p.M716V|SEMA6A_uc011cwe.1_Missense_Mutation_p.M78V|SEMA6A_uc003krv.3_Missense_Mutation_p.M126V|SEMA6A_uc003krw.3_Missense_Mutation_p.M176V|SEMA6A_uc010jcj.2_Missense_Mutation_p.M243V NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 699 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) ACGCTGCTCATGGAGCCCCGG 0.617000 DMXL1 1657 broad.mit.edu 37 5 118580164 118580164 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:118580164C>T uc003ksd.2 + 42 8933 c.8752C>T c.(8752-8754)CGA>TGA p.R2918* DMXL1_uc010jcl.1_Nonsense_Mutation_p.R2939*|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Nonsense_Mutation_p.R92* NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2918 WD 14. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCTTTGTCAACGACAACAGAG 0.433000 SLC12A2 6558 broad.mit.edu 37 5 127522312 127522312 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:127522312T>G uc003kus.2 + 27 3792 c.3628T>G c.(3628-3630)TTC>GTC p.F1210V SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.F1194V NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 1210 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGTCCTTACCTTCTATTCATA 0.423000 VDAC1 7416 broad.mit.edu 37 5 133309533 133309533 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:133309533C>T uc003kyp.1 - 8 808 c.709G>A c.(709-711)GTG>ATG p.V237M VDAC1_uc003kyq.1_Missense_Mutation_p.V237M|VDAC1_uc003kyr.1_Missense_Mutation_p.V237M NM_003374 NP_003365 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 237 Beta stranded. apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) GAGTTGTTCACTTTAGCCTAA 0.358000 FAM13B 51306 broad.mit.edu 37 5 137278591 137278591 + Missense_Mutation SNP C C T rs142996518 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:137278591C>T uc003lbz.2 - 21 3029 c.2495G>A c.(2494-2496)CGA>CAA p.R832Q FAM13B_uc003lcb.2_Missense_Mutation_p.R708Q|FAM13B_uc003lca.2_Missense_Mutation_p.R804Q NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 832 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 ACTTGACAATCGGAGATCCAG 0.328000 PCDHA3 56145 broad.mit.edu 37 5 140183159 140183159 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:140183159G>A uc003lhf.2 + 1 2377 c.2377G>A c.(2377-2379)GTT>ATT p.V793I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.V793I NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 793 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATGTGGACGTTGATCTCTC 0.428000 PCDHB11 56125 broad.mit.edu 37 5 140581715 140581715 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:140581715C>T uc003liy.2 + 1 2368 c.2368C>T c.(2368-2370)CGA>TGA p.R790* PCDHB11_uc011daj.1_Nonsense_Mutation_p.R425* NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 790 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCACCTTTCGAAATAGCTT 0.323000 PCDHGA11 56105 broad.mit.edu 37 5 140802438 140802438 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:140802438G>A uc003lkq.1 + 1 1902 c.1644G>A c.(1642-1644)TCG>TCA p.S548S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.S548S|PCDHGA11_uc003lkp.1_Silent_p.S548S NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 548 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) GCAACGTGTCGCTGAGCCTGT 0.607000 PCDHGA12 26025 broad.mit.edu 37 5 140812049 140812049 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:140812049G>A uc003lkt.1 + 1 1892 c.1723G>A c.(1723-1725)GTG>ATG p.V575M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.V575M NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 575 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCACTGGCGTGGAGCTGGC 0.662000 TBC1D9B 23061 broad.mit.edu 37 5 179297278 179297278 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:179297278A>T uc003mlh.2 - 16 2739 c.2702T>A c.(2701-2703)TTC>TAC p.F901Y TBC1D9B_uc003mli.2_Missense_Mutation_p.F901Y|TBC1D9B_uc003mlj.2_Missense_Mutation_p.F901Y|TBC1D9B_uc003mlg.2_Missense_Mutation_p.F77Y|TBC1D9B_uc011dgv.1_Missense_Mutation_p.F77Y|TBC1D9B_uc011dgw.1_Missense_Mutation_p.F77Y|TBC1D9B_uc003mlk.1_Missense_Mutation_p.F59Y NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 901 EF-hand. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAACTCCTTGAAGTTGATCAG 0.597000 SCGN 10590 broad.mit.edu 37 6 25665223 25665223 + Missense_Mutation SNP G G A rs151030217 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:25665223G>A uc003nfb.2 + 4 502 c.299G>A c.(298-300)CGG>CAG p.R100Q SCGN_uc010jpz.2_Missense_Mutation_p.G10R NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 100 extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 CTCTTTCGCCGGGAAAACCCA 0.483000 HIST1H2BF 8343 broad.mit.edu 37 6 26199793 26199793 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:26199793G>A uc003ngx.2 + 1 7 c.7G>A c.(7-9)GAA>AAA p.E3K HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 3 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) TATCATGCCTGAACCTGCTAA 0.488000 BTN2A2 10385 broad.mit.edu 37 6 26392925 26392925 + Missense_Mutation SNP G G T rs139419531 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:26392925G>T uc003nhq.2 + 8 1388 c.1302G>T c.(1300-1302)GAG>GAT p.E434D BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.E318D|BTN2A2_uc011dkh.1_Missense_Mutation_p.E224D|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.E434D|BTN2A2_uc011dki.1_3'UTR NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 434 B30.2/SPRY.|Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 CCTCCCCTGAGAGGATTCTCC 0.542000 GABBR1 2550 broad.mit.edu 37 6 29591187 29591187 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:29591187C>T uc003nmt.3 - 8 1194 c.858G>A c.(856-858)ACG>ACA p.T286T GABBR1_uc003nmp.3_Silent_p.T169T|GABBR1_uc003nms.3_Silent_p.T169T|GABBR1_uc003nmu.3_Silent_p.T224T|GABBR1_uc011dlr.1_Silent_p.T109T|GABBR1_uc011dls.1_Silent_p.T286T NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 286 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) CTGATGGGTGCGTTCGGAAGA 0.562000 GTF2H4 2968 broad.mit.edu 37 6 30878477 30878477 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:30878477G>T uc003nsa.1 + 5 617 c.410G>T c.(409-411)GGA>GTA p.G137V GTF2H4_uc010jsf.2_Missense_Mutation_p.G137V|GTF2H4_uc011dmv.1_Missense_Mutation_p.G81V|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.G143V NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 137 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 AGTCAGCTGGGACCAGACAAG 0.498000 NER VARS2 57176 broad.mit.edu 37 6 30886684 30886684 + Nonsense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:30886684C>T uc003nsc.1 + 10 1698 c.1066C>T c.(1066-1068)CGA>TGA p.R356* VARS2_uc011dmx.1_Nonsense_Mutation_p.R356*|VARS2_uc011dmy.1_Nonsense_Mutation_p.R216*|VARS2_uc011dmz.1_Nonsense_Mutation_p.R386*|VARS2_uc011dna.1_Nonsense_Mutation_p.R356*|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 356 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 AGACGACTCGCGATACACAGT 0.527000 GRM4 2914 broad.mit.edu 37 6 34101106 34101106 + Silent SNP C C T rs140904979 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:34101106C>T uc003oir.3 - 1 338 c.168G>A c.(166-168)CCG>CCA p.P56P GRM4_uc011dsn.1_Silent_p.P56P|GRM4_uc010jvh.2_Silent_p.P56P|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 56 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) GGCCATGCACCGGGAACAGGC 0.607000 MAPK13 5603 broad.mit.edu 37 6 36104269 36104269 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:36104269G>A uc003ols.2 + 6 554 c.456G>A c.(454-456)AAG>AAA p.K152K MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 152 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 AGGACCTGAAGCCAGGCAACC 0.383000 ZNF318 24149 broad.mit.edu 37 6 43322584 43322584 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:43322584G>A uc003oux.2 - 4 2566 c.2488C>T c.(2488-2490)CGT>TGT p.R830C ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 830 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GGACGGCTACGAGTAGCTTGT 0.522000 PHIP 55023 broad.mit.edu 37 6 79711671 79711671 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:79711671G>A uc003pir.2 - 17 2050 c.1824C>T c.(1822-1824)GGC>GGT p.G608G PHIP_uc011dyp.1_Silent_p.G608G NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 608 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AATTTTCACGGCCAGGAACTA 0.443000 TBX18 9096 broad.mit.edu 37 6 85446530 85446530 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:85446530C>T uc003pkl.1 - 8 1697 c.1697G>A c.(1696-1698)CGG>CAG p.R566Q TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 566 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CAACATCTGCCGATCCGTCAT 0.527000 HTR1E 3354 broad.mit.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:87725488G>A uc003pli.2 + 2 1139 c.436G>A c.(436-438)GTC>ATC p.V146I NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 146 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GATCCTTACCGTCTGGACCAT 0.582000 LAMA2 3908 broad.mit.edu 37 6 129513974 129513974 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:129513974G>A uc003qbn.2 + 12 1863 c.1758G>A c.(1756-1758)GCG>GCA p.A586A LAMA2_uc003qbo.2_Silent_p.A586A NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 586 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACTGGAGCGCGCCGGCTCCCT 0.547000 EPB41L2 2037 broad.mit.edu 37 6 131190857 131190857 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:131190857A>G uc003qch.2 - 15 2635 c.2453T>C c.(2452-2454)GTA>GCA p.V818A EPB41L2_uc003qce.1_Missense_Mutation_p.V196A|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.V215A NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 818 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TTGGGCACCTACATTTTCCTG 0.512000 SYNE1 23345 broad.mit.edu 37 6 152671429 152671429 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:152671429T>G uc010kiw.2 - 72 12377 c.11775A>C c.(11773-11775)GAA>GAC p.E3925D SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.E3925D|SYNE1_uc010kja.1_Missense_Mutation_p.E630D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3925 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) TGTTGTAGTCTTCATGGTCTT 0.498000 HNSCC(10;0.0054) MYCT1 80177 broad.mit.edu 37 6 153019200 153019200 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:153019200A>C uc003qpd.3 + 1 171 c.163A>C c.(163-165)AGT>CGT p.S55R MYCT1_uc010kjc.1_Missense_Mutation_p.S55R|MYCT1_uc003qpc.3_Missense_Mutation_p.S55R NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 55 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TAACACAACAAGTTTAGGGAG 0.313000 DLL1 28514 broad.mit.edu 37 6 170597377 170597377 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:170597377C>T uc003qxm.2 - 4 1090 c.620G>A c.(619-621)CGT>CAT p.R207H DLL1_uc011ehc.1_Missense_Mutation_p.R207H NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 207 Extracellular (Potential).|DSL. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TTTCTCCCCACGCTCCCCACA 0.622000 TMEM195 392636 broad.mit.edu 37 7 15405188 15405188 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:15405188C>T uc003stb.1 - 12 1384 c.1214G>A c.(1213-1215)CGA>CAA p.R405Q NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 405 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 GTGACCAAATCGGTACAGCAT 0.408000 ABCB5 340273 broad.mit.edu 37 7 20793081 20793081 + Missense_Mutation SNP T T G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:20793081T>G uc003suw.3 + 18 2739 c.2193T>G c.(2191-2193)ATT>ATG p.I731M ABCB5_uc010kuh.2_Missense_Mutation_p.I1176M NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 731 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AACCCAAAATTTTATTGTTGG 0.393000 LANCL2 55915 broad.mit.edu 37 7 55493072 55493072 + Silent SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:55493072G>T uc003tqp.2 + 7 1712 c.1134G>T c.(1132-1134)CTG>CTT p.L378L NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 378 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) ATTCCTTCCTGTCCCTTTACC 0.552000 AUTS2 26053 broad.mit.edu 37 7 70231287 70231287 + Silent SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:70231287C>A uc003tvw.3 + 9 2399 c.1656C>A c.(1654-1656)CCC>CCA p.P552P AUTS2_uc003tvx.3_Silent_p.P552P|AUTS2_uc011keg.1_5'UTR NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 552 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCATCCCACCCACCGCCATCA 0.448000 AUTS2 26053 broad.mit.edu 37 7 70254894 70254894 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:70254894T>C uc003tvw.3 + 19 3435 c.2692T>C c.(2692-2694)TCG>CCG p.S898P AUTS2_uc003tvx.3_Missense_Mutation_p.S874P|AUTS2_uc011keg.1_Missense_Mutation_p.S350P NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 898 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GAGAGACCACTCGGAATCCCG 0.657000 ABCB4 5244 broad.mit.edu 37 7 87069090 87069090 + Missense_Mutation SNP C C T rs140631210 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:87069090C>T uc003uiv.1 - 14 1700 c.1624G>A c.(1624-1626)GCC>ACC p.A542T ABCB4_uc003uiw.1_Missense_Mutation_p.A542T|ABCB4_uc003uix.1_Missense_Mutation_p.A542T NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 542 ABC transporter 1.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CGTGCAATGGCGATCCTCTGC 0.532000 CYP3A4 1576 broad.mit.edu 37 7 99377613 99377613 + Splice_Site SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:99377613A>G uc003urv.1 - 2 269 c.165_splice c.e2+1 p.K55_splice CYP3A4_uc003urw.1_Splice_Site_p.K55_splice|CYP3A4_uc011kiz.1_Splice_Site_p.K55_splice|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 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) AAAAACACTCACCTTATGGTA 0.418000 AZGP1 563 broad.mit.edu 37 7 99565777 99565777 + Splice_Site SNP C C T rs112067579 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:99565777C>T uc003ush.2 - 3 657 c.613_splice c.e3+1 p.D205_splice NM_001185 NP_001176 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GCAGTGAGTACCTTGCCGGTC 0.542000 AP4M1 9179 broad.mit.edu 37 7 99700524 99700524 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:99700524G>T uc003utb.3 + 4 500 c.292G>T c.(292-294)GGC>TGC p.G98C MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.G98C|AP4M1_uc010lgl.1_Missense_Mutation_p.G98C|AP4M1_uc003utc.3_Missense_Mutation_p.G105C|AP4M1_uc010lgm.2_Intron|AP4M1_uc003utd.2_Missense_Mutation_p.G98C|AP4M1_uc011kjh.1_Missense_Mutation_p.G50C|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 98 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGCTCCCTGGGCGAGGGGAC 0.562000 C7orf51 222950 broad.mit.edu 37 7 100086295 100086295 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:100086295G>C uc003uvd.1 + 4 1110 c.951G>C c.(949-951)AAG>AAC p.K317N C7orf51_uc003uve.1_Missense_Mutation_p.K99N NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 317 Pro-rich. skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGCCCACCAAGACCACTCCTT 0.687000 CUX1 1523 broad.mit.edu 37 7 101844897 101844897 + Missense_Mutation SNP G G A rs141755950 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:101844897G>A uc003uyx.3 + 18 2358 c.2320G>A c.(2320-2322)GGT>AGT p.G774S CUX1_uc003uys.3_Missense_Mutation_p.G785S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 774 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 TCCTGAGGCCGGTGCCTCTGC 0.682000 SLC26A4 5172 broad.mit.edu 37 7 107350529 107350529 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:107350529G>A uc003vep.2 + 19 2344 c.2120G>A c.(2119-2121)GGG>GAG p.G707E SLC26A4_uc011kmb.1_Missense_Mutation_p.G294E|SLC26A4_uc011kmc.1_Missense_Mutation_p.G268E|SLC26A4_uc011kmd.1_Missense_Mutation_p.G276E NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 707 STAS.|Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 GAGCAATGCGGGTTCTTTGAC 0.333000 Pendred_syndrome ATP6V0A4 50617 broad.mit.edu 37 7 138453530 138453530 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:138453530G>T uc003vuf.2 - 4 524 c.286C>A c.(286-288)CTG>ATG p.L96M ATP6V0A4_uc003vug.2_Missense_Mutation_p.L96M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L96M NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 96 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 CTTACCTCCAGGGTAATCATT 0.512000 OR2F1 26211 broad.mit.edu 37 7 143657472 143657472 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:143657472C>T uc003wds.1 + 1 453 c.409C>T c.(409-411)CAT>TAT p.H137Y NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) GGCCATCATGCATGGAGGGCT 0.572000 ZNF398 57541 broad.mit.edu 37 7 148851197 148851197 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:148851197G>A uc003wfl.2 + 2 460 c.185G>A c.(184-186)CGG>CAG p.R62Q ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.R67Q NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 62 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) ATCCACAGCCGGCGACTCCTA 0.577000 SSPO 23145 broad.mit.edu 37 7 149486358 149486358 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:149486358C>T uc010lpk.2 + 30 4334 c.4334C>T c.(4333-4335)ACG>ATG p.T1445M NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1445 LDL-receptor class A 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAGATGGCACGGATGAGCCG 0.692000 RARRES2 5919 broad.mit.edu 37 7 150036113 150036113 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:150036113G>A uc003wha.2 - 4 454 c.337C>T c.(337-339)CGG>TGG p.R113W RARRES2_uc010lpp.1_Missense_Mutation_p.R113W NM_002889 NP_002880 Q99969 RARR2_HUMAN chemerin preproprotein 113 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.011) TGGACCAACCGGCCCAGAACT 0.597000 CSMD1 64478 broad.mit.edu 37 8 2964055 2964055 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:2964055C>T uc011kwk.1 - 46 7337 c.6947G>A c.(6946-6948)TGT>TAT p.C2316Y CSMD1_uc011kwj.1_Missense_Mutation_p.C1708Y|CSMD1_uc010lrg.2_Missense_Mutation_p.C384Y NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2316 Extracellular (Potential).|Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATACCTTCACATGTTGGGAG 0.433000 CSMD1 64478 broad.mit.edu 37 8 2976048 2976048 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:2976048C>T uc011kwk.1 - 42 6696 c.6306G>A c.(6304-6306)TCG>TCA p.S2102S CSMD1_uc011kwj.1_Silent_p.S1494S|CSMD1_uc010lrg.2_Silent_p.S170S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2102 Extracellular (Potential).|Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGCTGTAATCCGAGTTGATCA 0.418000 CSMD1 64478 broad.mit.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:3087592A>C uc011kwk.1 - 27 4708 c.4318T>G c.(4318-4320)TTT>GTT p.F1440V CSMD1_uc011kwj.1_Missense_Mutation_p.F832V|CSMD1_uc003wqe.2_Missense_Mutation_p.F596V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1440 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTTGCCAAAAGAACCGGTTA 0.473000 DCTN6 10671 broad.mit.edu 37 8 30038094 30038094 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:30038094C>T uc003xhy.2 + 6 509 c.422C>T c.(421-423)ACG>ATG p.T141M NM_006571 NP_006562 O00399 DCTN6_HUMAN dynactin 6 141 centrosome transferase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) CCTGAGAATACGGTGATCTAT 0.438000 C8orf41 80185 broad.mit.edu 37 8 33369638 33369638 + Missense_Mutation SNP G G T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:33369638G>T uc003xjl.3 - 1 1019 c.494C>A c.(493-495)ACT>AAT p.T165N C8orf41_uc003xjk.3_Missense_Mutation_p.T165N|C8orf41_uc010lvv.2_Missense_Mutation_p.T165N|C8orf41_uc003xjm.3_Missense_Mutation_p.T165N|C8orf41_uc003xjn.1_Missense_Mutation_p.T165N NM_025115 NP_079391 Q6NXR4 CH041_HUMAN hypothetical protein LOC80185 165 binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) AGATCTCGGAGTGGTCCATGG 0.522000 CYP7A1 1581 broad.mit.edu 37 8 59410926 59410926 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:59410926C>A uc003xtm.3 - 2 246 c.183G>T c.(181-183)AGG>AGT p.R61S NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 61 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GACCATGTTTCCTTTGATTTG 0.413000 Neonatal_Giant_Cell_Hepatitis CSPP1 79848 broad.mit.edu 37 8 67988734 67988734 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:67988734G>A uc003xxi.2 + 3 256 c.225G>A c.(223-225)AAG>AAA p.K75K CSPP1_uc003xxg.1_Silent_p.K75K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.K75K NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 75 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGTCAGCGAAGCTTTCTGAAA 0.348000 JPH1 56704 broad.mit.edu 37 8 75157411 75157411 + Splice_Site SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:75157411C>T uc003yae.2 - 4 1299 c.1259_splice c.e4-1 p.G420_splice JPH1_uc003yaf.2_Splice_Site_p.G420_splice|JPH1_uc003yag.1_Splice_Site_p.G284_splice NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 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) TAATCAGGGCCTGGCCaaaaa 0.313000 TRPS1 7227 broad.mit.edu 37 8 116427261 116427261 + Missense_Mutation SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:116427261T>C uc003ynz.2 - 6 3295 c.2836A>G c.(2836-2838)AGG>GGG p.R946G TRPS1_uc011lhy.1_Missense_Mutation_p.R950G|TRPS1_uc003yny.2_Missense_Mutation_p.R959G|TRPS1_uc010mcy.2_Missense_Mutation_p.R946G NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 946 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GTTCTCCTCCTAATAATCTGC 0.433000 Langer-Giedion_syndrome WISP1 8840 broad.mit.edu 37 8 134232990 134232990 + Silent SNP C C T rs150221105 byFrequency TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:134232990C>T uc003yub.2 + 3 592 c.516C>T c.(514-516)CGC>CGT p.R172R WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 172 VWFC. 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) ACCCGCGGCGCGTGAGCATAC 0.672000 ARC 23237 broad.mit.edu 37 8 143694717 143694717 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:143694717G>A uc003ywn.1 - 1 1117 c.916C>T c.(916-918)CGG>TGG p.R306W NM_015193 NP_056008 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated 306 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1) 1 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TACAGGTCCCGCTTGCGCCAC 0.662000 CYP11B1 1584 broad.mit.edu 37 8 143958607 143958607 + Missense_Mutation SNP G G A rs140336749 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:143958607G>A uc003yxi.2 - 3 434 c.427C>T c.(427-429)CGG>TGG p.R143W CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R143W|CYP11B1_uc010mey.2_Missense_Mutation_p.R214W NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 143 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GGATTCAGCCGCAATCGGTTG 0.612000 Familial_Hyperaldosteronism_type_I CYP11B2 1585 broad.mit.edu 37 8 143999227 143999227 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:143999227G>A uc003yxk.1 - 1 33 c.30C>T c.(28-30)TGC>TGT p.C10C NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 10 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCGCTGCCACGCACACCTCTG 0.612000 Familial_Hyperaldosteronism_type_I NAPRT1 93100 broad.mit.edu 37 8 144659548 144659548 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr8:144659548C>T uc003yym.3 - 4 484 c.459G>A c.(457-459)GCG>GCA p.A153A NAPRT1_uc003yyn.3_Silent_p.A153A|NAPRT1_uc011lkh.1_Silent_p.A153A|NAPRT1_uc003yyo.3_Silent_p.A153A NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 153 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGCGAAGCCGCGCTGCGTTGG 0.677000 PTPRD 5789 broad.mit.edu 37 9 8518099 8518099 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr9:8518099G>A uc003zkk.2 - 20 2003 c.1292C>T c.(1291-1293)TCG>TTG p.S431L PTPRD_uc003zkp.2_Missense_Mutation_p.S431L|PTPRD_uc003zkq.2_Missense_Mutation_p.S431L|PTPRD_uc003zkr.2_Missense_Mutation_p.S425L|PTPRD_uc003zks.2_Missense_Mutation_p.S421L|PTPRD_uc003zkl.2_Missense_Mutation_p.S431L|PTPRD_uc003zkm.2_Missense_Mutation_p.S418L|PTPRD_uc003zkn.2_Missense_Mutation_p.S431L|PTPRD_uc003zko.2_Missense_Mutation_p.S428L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 431 Fibronectin type-III 2.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATGGTGGTCGAACTCAACAT 0.502000 TSP Lung(15;0.13) SPTLC1 10558 broad.mit.edu 37 9 94808310 94808310 + Missense_Mutation SNP C C G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr9:94808310C>G uc004arl.1 - 12 1145 c.1107G>C c.(1105-1107)AAG>AAC p.K369N SPTLC1_uc011ltv.1_Missense_Mutation_p.K369N NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 369 Cytoplasmic (Potential). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTTGTCCGCACTTTTCCTTCA 0.299000 SPTAN1 6709 broad.mit.edu 37 9 131329031 131329031 + Silent SNP T T C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr9:131329031T>C uc004bvl.3 + 2 125 c.12T>C c.(10-12)AGT>AGC p.S4S SPTAN1_uc011mbg.1_Silent_p.S4S|SPTAN1_uc011mbh.1_Silent_p.S16S|SPTAN1_uc004bvm.3_Silent_p.S4S|SPTAN1_uc004bvn.3_Silent_p.S4S NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 4 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGGACCCAAGTGGGGTCAAAG 0.468000 DOLK 22845 broad.mit.edu 37 9 131708026 131708026 + Silent SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr9:131708026G>A uc004bwr.2 - 1 1987 c.1557C>T c.(1555-1557)TAC>TAT p.Y519Y NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 519 Cytoplasmic (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 TCTGTGTAGTGTATGCTTCCA 0.478000 CSF2RA 1438 broad.mit.edu 37 X 1407666 1407666 + Missense_Mutation SNP G G A rs148928173 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:1407666G>A uc010nct.2 + 7 680 c.358G>A c.(358-360)GCT>ACT p.A120T CSF2RA_uc011mhb.1_Missense_Mutation_p.A120T|CSF2RA_uc004cpq.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpn.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpo.2_Missense_Mutation_p.A120T|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.A120T|CSF2RA_uc010ncv.2_Missense_Mutation_p.A120T|CSF2RA_uc004cpr.2_Missense_Mutation_p.A120T NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 120 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGAGGGTACCGCTGCTCAGAA 0.512000 MAGEB3 4114 broad.mit.edu 37 X 30254145 30254145 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:30254145A>T uc004dca.1 + 5 841 c.104A>T c.(103-105)AAG>ATG p.K35M NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 35 0 GCAACTAACAAGAAAAAAGTA 0.517000 FAM47C 442444 broad.mit.edu 37 X 37028749 37028749 + Missense_Mutation SNP G G C TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:37028749G>C uc004ddl.1 + 1 2280 c.2266G>C c.(2266-2268)GAG>CAG p.E756Q NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 756 ovary(3) 3 AGAGCCTCTTGAGACTCGCGT 0.622000 SSX5 6758 broad.mit.edu 37 X 48054788 48054788 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:48054788C>T uc004dja.1 - 2 60 c.7G>A c.(7-9)GGA>AGA p.G3R SSX5_uc004diz.1_Missense_Mutation_p.G3R NM_175723 NP_783729 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 isoform b 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 GCATCGTCTCCGTTCATGGCA 0.532000 CACNA1F 778 broad.mit.edu 37 X 49076976 49076976 + Missense_Mutation SNP C C A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:49076976C>A uc004dnb.2 - 19 2437 c.2375G>T c.(2374-2376)GGT>GTT p.G792V CACNA1F_uc010nip.2_Missense_Mutation_p.G781V NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 792 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) TTTCTCCACACCAGGCACCTG 0.572000 TRO 7216 broad.mit.edu 37 X 54957106 54957106 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:54957106G>A uc004dtq.2 + 12 4056 c.3949G>A c.(3949-3951)GAT>AAT p.D1317N TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D848N|TRO_uc004dtw.2_Missense_Mutation_p.D920N|TRO_uc004dtx.2_Missense_Mutation_p.D700N NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1317 51.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CAGCACCAGCGATGGCTTTGG 0.557000 ZC3H12B 340554 broad.mit.edu 37 X 64722868 64722868 + Missense_Mutation SNP G G A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:64722868G>A uc010nko.2 + 5 2266 c.2257G>A c.(2257-2259)GTG>ATG p.V753M NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 753 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 GGTACGGAGCGTGCCTGAAAA 0.507000 OPHN1 4983 broad.mit.edu 37 X 67339099 67339099 + Missense_Mutation SNP A A T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:67339099A>T uc004dww.3 - 16 1646 c.1352T>A c.(1351-1353)TTC>TAC p.F451Y OPHN1_uc011mpg.1_Missense_Mutation_p.F451Y NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 451 Rho-GAP. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 CCTGAGGTAGAATTTCAAGGA 0.398000 DACH2 117154 broad.mit.edu 37 X 86069814 86069814 + Missense_Mutation SNP A A G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:86069814A>G uc004eew.2 + 10 1831 c.1661A>G c.(1660-1662)GAC>GGC p.D554G DACH2_uc004eex.2_Missense_Mutation_p.D541G|DACH2_uc010nmq.2_Missense_Mutation_p.D420G|DACH2_uc011mra.1_Missense_Mutation_p.D387G|DACH2_uc010nmr.2_Missense_Mutation_p.D335G|DACH2_uc004eey.2_Missense_Mutation_p.D247G|DACH2_uc004eez.2_Missense_Mutation_p.D237G NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 554 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ACCACTAGTGACAGTGGCCTG 0.378000 GUCY2F 2986 broad.mit.edu 37 X 108631760 108631760 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:108631760T>A uc004eod.3 - 15 3190 c.2914A>T c.(2914-2916)ATG>TTG p.M972L GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 972 Guanylate cyclase.|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 lung(4)|breast(3)|central_nervous_system(1) 8 ACTTCTGGCATGTGCCGCATC 0.468000 ACSL4 2182 broad.mit.edu 37 X 108911351 108911351 + Missense_Mutation SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:108911351C>T uc004eoi.2 - 12 1922 c.1417G>A c.(1417-1419)GGT>AGT p.G473S ACSL4_uc004eoj.2_Missense_Mutation_p.G432S|ACSL4_uc004eok.2_Missense_Mutation_p.G432S|ACSL4_uc010npp.1_Missense_Mutation_p.G473S NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 473 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) GTCCCAGCACCACATGATTCT 0.453000 GLUD2 2747 broad.mit.edu 37 X 120181760 120181760 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:120181760C>T uc004eto.2 + 1 299 c.222C>T c.(220-222)TTC>TTT p.F74F NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 74 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) AGGGCTTCTTCGATCGCGGCG 0.662000 ARHGAP36 158763 broad.mit.edu 37 X 130222707 130222707 + Missense_Mutation SNP G G A rs145932994 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:130222707G>A uc004evz.2 + 12 1937 c.1592G>A c.(1591-1593)CGT>CAT p.R531H ARHGAP36_uc004ewa.2_Missense_Mutation_p.R519H|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R500H|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R395H NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 531 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CCATTGCTCCGTGTGCCCCGG 0.577000 ZNF75D 7626 broad.mit.edu 37 X 134426208 134426208 + Missense_Mutation SNP T T A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:134426208T>A uc004eyp.2 - 4 3258 c.603A>T c.(601-603)AGA>AGT p.R201S ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 201 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCTCCTCACCTCTTTCATATA 0.458000 MAGEC2 51438 broad.mit.edu 37 X 141291507 141291507 + Silent SNP C C T TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chrX:141291507C>T uc004fbu.1 - 3 615 c.267G>A c.(265-267)CAG>CAA p.Q89Q NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 89 Ser-rich. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) gtggaggaccctgtggaggac 0.423000 HNSCC(46;0.14) ALOX12 239 broad.mit.edu 37 17 6905132 6905133 + Splice_Site INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:6905132_6905133insA uc002gdx.3 + 8 1214 c.1161_splice c.e8+2 p.K387_splice uc002gdy.1_RNA NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 ATCTTCAAGGTACTTATTAATC 0.480 ALOX12 239 broad.mit.edu 37 17 6905133 6905134 + Splice_Site INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:6905132_6905133T>TA uc002gdx.4 + 8 1214 c.1161_splice c.e8+2 p.K387_splice LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Non-coding_Transcript NM_000697 NP_000688 P18054 LOX12_HUMAN Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA. 387 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATCTTCAAGGTACTTATTAATC 0.480 KIAA1217 56243 broad.mit.edu 37 10 24832909 24832910 + Frame_Shift_Ins INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:24832909_24832910insA uc001iru.3 + 19 5113_5114 c.4710_4711insA c.(4708-4713)AAGAAAfs p.K1570fs KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1570_1571 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AAAGCCCCAAGAAAAAGTTTAA 0.465 TMEM41B 440026 broad.mit.edu 37 11 9335967 9335967 + Frame_Shift_Del DEL C C - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr11:9335967delC uc001mhm.2 - 1 330 c.22delG c.(22-24)GAAfs p.E8fs TMEM41B_uc001mhn.1_Frame_Shift_Del_p.E8fs NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN transmembrane protein 41B isoform 1 8 integral to membrane 0 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) TGCGATCGTTCGGCGACTCTG 0.672 NAGPA 51172 broad.mit.edu 37 16 5080423 5080423 + Frame_Shift_Del DEL C C - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr16:5080423delC uc002cyg.2 - 4 775 c.754delG c.(754-756)GTGfs p.V252fs NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Frame_Shift_Del_p.V110fs|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 252 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) TGAAAGAGCACCAGCTGCCCT 0.597 ALOX12 239 broad.mit.edu 37 17 6905132 6905133 + Splice_Site INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:6905132_6905133insA uc002gdx.3 + 8 1214 c.1161_splice c.e8+2 p.K387_splice uc002gdy.1_RNA NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 ATCTTCAAGGTACTTATTAATC 0.480 THOC1 9984 broad.mit.edu 37 18 225119 225119 + Frame_Shift_Del DEL G G - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr18:225119delG uc002kkj.3 - 14 1147 c.1107delC c.(1105-1107)CCCfs p.P369fs THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.3_5'UTR NM_005131 NP_005122 Q96FV9 THOC1_HUMAN THO complex 1 369 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding ovary(1) 1 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TTTCTCCATCGGGGGGGTTTT 0.388 TRIP12 9320 broad.mit.edu 37 2 230652221 230652221 + Frame_Shift_Del DEL T T - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:230652221delT uc002vpw.1 - 32 4879 c.4770delA c.(4768-4770)AAAfs p.K1590fs TRIP12_uc002vpx.1_Frame_Shift_Del_p.K1638fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.K1320fs NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1590 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AGAAACTTACTTTTTTTCTAT 0.358 ZDHHC11 79844 broad.mit.edu 37 5 850680 850680 + Frame_Shift_Del DEL G G - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:850680delG uc011cma.1 - 1 422 c.38delC c.(37-39)CCAfs p.P13fs ZDHHC11_uc003jbj.2_5'Flank NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 13 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TATGGCTTCTGGGGTGACGGA 0.627 TMEM168 64418 broad.mit.edu 37 7 112424808 112424811 + Frame_Shift_Del DEL TATT TATT - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr7:112424808_112424811delTATT uc003vgn.2 - 2 462_465 c.70_73delAATA c.(70-75)AATAGAfs p.N24fs TMEM168_uc010lju.2_Frame_Shift_Del_p.N24fs|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 24_25 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 TTCACTTCTCTATTTACTTCTTCC 0.382 CDC73 79577 broad.mit.edu 37 1 193111146 193111147 + Frame_Shift_Del DEL AG AG - rs80356649 TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr1:193111145_193111146CAG>C uc001gtb.3 + 6 921_922 c.678_679CAG>C c.(676-681)agcagafs p.S226fs NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA. 226 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 ATATTGTCAGCAGAGAGAGAGT 0.396 SLC4A5 57835 broad.mit.edu 37 2 74452025 74452025 + Frame_Shift_Del DEL T T - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr2:74452024_74452024CT>C uc002sko.1 - 23 3239 c.3237_3237AG>G c.(3235-3237)aagfs p.K1079fs SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Frame_Shift_Del_p.K1063fs|SLC4A5_uc010ffc.1_Frame_Shift_Del_p.K982fs|SLC4A5_uc002skp.1_Frame_Shift_Del_p.K961fs|SLC4A5_uc002sks.1_Frame_Shift_Del_p.R971fs NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 1079 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGTCTGTCTCCTTTTTTTCCT 0.517 CD96 10225 broad.mit.edu 37 3 111264137 111264145 + In_Frame_Del DEL TCTGCACTT TCTGCACTT - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr3:111264136_111264144CTCTGCACTT>C uc003dxw.3 + 1 475_483 c.305_313CTCTGCACTT>C c.(304-315)actctgcactta>aCta p.LHL103del CD96_uc003dxv.3_In_Frame_Del_p.LHL103del|CD96_uc003dxx.3_In_Frame_Del_p.LHL103del|CD96_uc010hpy.1_In_Frame_Del_p.LHL103del NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 103 Ig-like V-type 1. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TCAAAATGGACTCTGCACTTAAGGAATAT 0.450 Opitz Trigonocephaly syndrome ZDHHC11 79844 broad.mit.edu 37 5 850567 850587 + In_Frame_Del DEL CCACGAAGACAGCCCAGGTCA CCACGAAGACAGCCCAGGTCA - rs147806046 by1000genomes TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr5:850566_850586CCCACGAAGACAGCCCAGGTCA>C uc011cma.1 - 0 516_536 c.132_152TGACCTGGGCTGTCTTCGTGGG>G c.(130-153)gtgacctgggctgtcttcgtgggc>gtGc p.TWAVFVG45del NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA. 45 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CGAGGAAAGGCCCACGAAGACAGCCCAGGTCACCACCTGGA 0.552 FILIP1 27145 broad.mit.edu 37 6 76124567 76124569 + In_Frame_Del DEL TTC TTC - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr6:76124566_76124568TTTC>T uc010kbe.3 - 2 660_662 c.130_132GAAA>A c.(130-132)aaa>A p.K44del FILIP1_uc003phy.1_In_Frame_Del_p.K41del|FILIP1_uc003pia.3_In_Frame_Del_p.K41del NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 41 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCCTATTTGATTTCTTCTTCTTT 0.433 KIAA1217 56243 broad.mit.edu 37 10 24832910 24832911 + Frame_Shift_Ins INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr10:24832909_24832910G>GA uc001iru.4 + 18 5113_5114 c.4710_4711G>GA c.(4708-4713)aagaaafs p.K1570fs KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1570 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAAGCCCCAAGAAAAAGTTTAA 0.465 RBM25 58517 broad.mit.edu 37 14 73572625 73572630 + In_Frame_Del DEL CGAGAG CGAGAG - TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:73572624_73572629ACGAGAG>A uc010ttu.2 + 11 1488_1493 c.1212_1217ACGAGAG>A c.(1210-1218)gaacgagag>gaAg p.404_406ERE>E RBM25_uc001xno.3_In_Frame_Del_p.404_406ERE>E|RBM25_uc001xnp.3_In_Frame_Del_p.199_201ERE>E NM_021239 NP_067062 P49756 RBM25_HUMAN Homo sapiens RNA binding motif protein 25 (RBM25), mRNA. 404 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) gagagagagaacgagagcgagaacga 0.447 NRXN3 9369 broad.mit.edu 37 14 79432747 79432748 + Frame_Shift_Ins INS - - G TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr14:79432746_79432747A>AG uc001xun.3 + 8 2146_2147 c.1655_1656A>AG c.(1654-1656)aagfs p.K552fs NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Frame_Shift_Ins_p.K677fs NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 145 angiogenesis|cell adhesion integral to membrane p.V551V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAGCTTGTCAAGGGGTAAGTAG 0.421 ALOX12 239 broad.mit.edu 37 17 6905133 6905134 + Splice_Site INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr17:6905132_6905133T>TA uc002gdx.4 + 8 1214 c.1161_splice c.e8+2 p.K387_splice LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Non-coding_Transcript NM_000697 NP_000688 P18054 LOX12_HUMAN Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA. 387 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATCTTCAAGGTACTTATTAATC 0.480 ZNF471 57573 broad.mit.edu 37 19 57035986 57035987 + Frame_Shift_Ins INS - - A TCGA-CD-8527-01A-11D-2340-08 TCGA-CD-8527-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 461de0ab-b8ff-4b90-bbc0-8a1ef2d248f1 e67a786e-eae8-4bf5-b3e7-7e8fe1083c98 g.chr19:57035985_57035986T>TA uc002qnh.3 + 4 682_683 c.549_550T>TA c.(547-552)gataaafs p.D183fs NM_020813 NP_065864 Q9BX82 ZN471_HUMAN Homo sapiens zinc finger protein 471 (ZNF471), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ACACATCAGATAAAAAAAGCTT 0.297