Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample AGRN 375790 broad.mit.edu 37 1 979601 979601 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:979601C>G uc001ack.1 + 11 2162 c.2112C>G c.(2110-2112)GTC>GTG p.V704V NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 704 Kazal-like 8. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGCCGTGTGTCTGTGACTTCA 0.706 NaN 0 0 0 0.01892 0 24 33 CDK11A 728642 broad.mit.edu 37 1 1636040 1636040 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:1636040C>T uc009vks.2 - 14 1621 c.1513G>A c.(1513-1515)GAG>AAG p.E505K CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Missense_Mutation_p.E12K|CDK11A_uc009vkp.2_Missense_Mutation_p.E122K|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Missense_Mutation_p.E495K|CDK11A_uc010nys.1_Missense_Mutation_p.E495K|CDK11A_uc010nyt.1_3'UTR NM_024011 NP_076916 Q9UQ88 CD11A_HUMAN cell division cycle 2-like 2 isoform 1 508 Protein kinase. apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 AGGTCGTGCTCCACGTAGTTC 0.617 NaN 0 0 0 0.004482 0 8 5 CDK11A 728642 broad.mit.edu 37 1 1636274 1636274 + Nonsense_Mutation SNP C C T rs2179381 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:1636274C>T uc010nyt.1 - 13 1635 c.1527G>A c.(1525-1527)TGG>TGA p.W509* CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Intron|CDK11A_uc009vks.2_Intron|CDK11A_uc010nys.1_Intron Q9UQ88 CD11A_HUMAN SubName: Full=cDNA FLJ56415, highly similar to PITSLRE serine/threonine-protein kinase CDC2L1 (EC 2.7.11.22); Error:Variant_position_missing_in_Q9UQ88_after_alignment apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 GCACCCGGCCCCAGGACAGCA 0.622 NaN 0 0 0 0.014758 0 5 24 CDK11B 984 broad.mit.edu 37 1 1650892 1650892 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:1650892C>G uc001agv.1 - 6 341 c.230G>C c.(229-231)GGA>GCA p.G77A CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.G43A|CDK11B_uc001agw.1_Missense_Mutation_p.G43A|CDK11B_uc001agy.1_Missense_Mutation_p.G77A|CDK11B_uc001agx.1_Missense_Mutation_p.G77A|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_Missense_Mutation_p.G77A|CDK11A_uc009vks.2_Missense_Mutation_p.G77A|CDK11A_uc010nys.1_Missense_Mutation_p.G77A|CDK11A_uc010nyt.1_Missense_Mutation_p.G77A|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_Missense_Mutation_p.G77A|CDK11A_uc009vku.1_Missense_Mutation_p.G77A|CDK11A_uc009vkv.1_Missense_Mutation_p.G77A|CDK11A_uc001aht.1_Missense_Mutation_p.G77A|CDK11B_uc001ahu.1_Missense_Mutation_p.G77A|CDK11B_uc001ahv.1_Missense_Mutation_p.G77A|CDK11B_uc001ahw.1_Missense_Mutation_p.G77A NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 77 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 ATCTTCTTCTCCTCTGAAATA 0.388 NaN 0 0 0 0.00874 0 42 90 ACTRT2 140625 broad.mit.edu 37 1 2938728 2938728 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:2938728G>A uc001ajz.2 + 1 683 c.478G>A c.(478-480)GGG>AGG p.G160R NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 160 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GGTGGACAGCGGGGATGCGGT 0.642 NaN 0 0 0 0.009096 0 4 46 TP73 7161 broad.mit.edu 37 1 3649318 3649318 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:3649318G>C uc001akp.2 + 14 1696 c.1586G>C c.(1585-1587)GGG>GCG p.G529A TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.G480A|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_Missense_Mutation_p.G449R|TP73_uc010nzk.1_Missense_Mutation_p.G458A|TP73_uc010nzl.1_Missense_Mutation_p.G78A NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 529 SAM. 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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CAGGACCTGGGGGCCCTGAAG 0.706 NaN 0 0 0 0.004672 0 3 20 LOC440563 440563 broad.mit.edu 37 1 13183780 13183780 + Silent SNP A A C rs116484938 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:13183780A>C uc010obg.1 - 1 188 c.93T>G c.(91-93)TCT>TCG p.S31S NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 31 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CCTCCACATCAGATTTCTTGA 0.468 NaN 0 0 0 0.008291 0 5 63 UQCRHL 440567 broad.mit.edu 37 1 16134162 16134162 + Translation_Start_Site SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:16134162G>C uc009vol.1 - 1 33 c.-17C>G c.(-19--15)ATCTA>ATGTA NM_001089591 NP_001083060 ubiquinol-cytochrome c reductase hinge 0 TACGGTTCTAGATTTAACACG 0.269 NaN 0 0 0 0.006214 0 10 20 SLC30A2 7780 broad.mit.edu 37 1 26371526 26371526 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:26371526G>C uc001blh.1 - 2 450 c.233C>G c.(232-234)TCT>TGT p.S78C SLC30A2_uc001blg.1_Missense_Mutation_p.S78C NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 78 Cytoplasmic (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) GCAGATGGCAGAGGCTACATA 0.527 NaN 0 0 0 0.00632 0 28 78 PHACTR4 65979 broad.mit.edu 37 1 28817511 28817511 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:28817511G>C uc001bpw.2 + 11 2147 c.1865G>C c.(1864-1866)CGG>CCG p.R622P PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R606P|PHACTR4_uc001bpy.2_Missense_Mutation_p.R632P|PHACTR4_uc001bpz.2_5'Flank NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 622 RPEL 3. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ATTAAACGTCGGCTCACTAGA 0.343 NaN 0 0 0 0.00308 0 8 25 C1orf91 56063 broad.mit.edu 37 1 32687561 32687561 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:32687561C>T uc009vub.1 - 2 78 c.75G>A c.(73-75)CTG>CTA p.L25L C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA|C1orf91_uc010oha.1_RNA|C1orf91_uc001buq.3_Silent_p.L25L|EIF3I_uc001bur.3_5'UTR|EIF3I_uc009vuc.2_5'Flank|EIF3I_uc001bus.2_5'Flank Q8WY98 TM234_HUMAN RecName: Full=UPF0546 membrane protein C1orf91; 25 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGGCCCGCTTCAGCAGCGGCT 0.642 NaN 0 0 0 0.010729 0 11 25 KIAA0319L 79932 broad.mit.edu 37 1 35915552 35915552 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:35915552C>T uc001byx.2 - 15 2527 c.2269G>A c.(2269-2271)GAG>AAG p.E757K KIAA0319L_uc001byw.2_Missense_Mutation_p.E199K|KIAA0319L_uc010ohv.1_Missense_Mutation_p.E399K NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 757 PKD 5.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAGGTTCCCTCAACCAGGTTT 0.453 NaN 0 0 0 0.015359 0 35 43 HIVEP3 59269 broad.mit.edu 37 1 41990541 41990541 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:41990541C>T uc001cgz.3 - 6 6461 c.5248G>A c.(5248-5250)GGC>AGC p.G1750S HIVEP3_uc001cha.3_Missense_Mutation_p.G1750S|HIVEP3_uc001cgy.2_Intron NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1750 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTCCCTCGGCCGCGGCCTCGC 0.502 NaN 0 0 0 0.00499 0 18 34 NEGR1 257194 broad.mit.edu 37 1 72400821 72400821 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:72400821G>A uc001dfw.2 - 2 450 c.350C>T c.(349-351)ACG>ATG p.T117M NEGR1_uc001dfv.2_Translation_Start_Site|NEGR1_uc010oqs.1_Missense_Mutation_p.T117M NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 117 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AACAGAACACGTGTATGGGCC 0.418 NaN 0 0 0 0.024245 0 16 26 TYW3 127253 broad.mit.edu 37 1 75204401 75204401 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:75204401G>A uc001dgn.2 + 3 372 c.283G>A c.(283-285)GAT>AAT p.D95N TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog isoform 95 tRNA processing methyltransferase activity ovary(2) 2 AGCAAATGGTGATGCCACTTT 0.378 NaN 0 0 0 0.004482 0 9 16 GBP1 2633 broad.mit.edu 37 1 89528910 89528910 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:89528910G>A uc001dmx.2 - 2 228 c.8C>T c.(7-9)TCA>TTA p.S3L NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 3 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GTGGATCTCTGATGCCATGTC 0.453 NaN 0 0 0 0.00632 0 28 60 TRIM33 51592 broad.mit.edu 37 1 114940612 114940612 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:114940612T>C uc001eew.2 - 19 3205 c.3121A>G c.(3121-3123)ATG>GTG p.M1041V TRIM33_uc010owr.1_Missense_Mutation_p.M655V|TRIM33_uc010ows.1_Missense_Mutation_p.M673V|TRIM33_uc001eex.2_Intron NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 1041 Bromo. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTTCATCATCTAAAAAGGA 0.343 NaN T RET papillary thyroid 0 0 0 0.010504 0 22 52 NGF 4803 broad.mit.edu 37 1 115829160 115829160 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:115829160C>T uc001efu.1 - 3 426 c.257G>A c.(256-258)CGT>CAT p.R86H NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 86 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) AAACAGCACACGGGGTGAACG 0.632 NaN 0 0 0 0.008291 0 11 30 NOTCH2 4853 broad.mit.edu 37 1 120462189 120462189 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:120462189C>G uc001eik.2 - 31 5783 c.5527G>C c.(5527-5529)GAT>CAT p.D1843H NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1843 Cytoplasmic (Potential).|ANK 1. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACTCAAATCTGAGCTGCCT 0.498 NaN N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 0 0 0 0.00308 0 7 14 RPTN 126638 broad.mit.edu 37 1 152127966 152127966 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:152127966G>T uc001ezs.1 - 3 1674 c.1609C>A c.(1609-1611)CAG>AAG p.Q537K NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 537 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 CTGTCCATCTGACTGTAGTGG 0.532 NaN 1 0 4.53783e-81 0.01441 4.95855e-81 251 468 OR6N2 81442 broad.mit.edu 37 1 158747279 158747279 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:158747279G>A uc010pir.1 - 1 147 c.147C>T c.(145-147)ATC>ATT p.I49I NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) CATCCAGTCGGATGACTGAGA 0.483 NaN 0 0 0 0.01892 0 25 77 FCRLB 127943 broad.mit.edu 37 1 161697272 161697272 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:161697272G>A uc001gbh.2 + 8 1335 c.1101G>A c.(1099-1101)CTG>CTA p.L367L FCRLB_uc009wus.2_Silent_p.L367L|FCRLB_uc001gbj.2_Silent_p.*319*|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.*312*|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.L367L|FCRLB_uc001gbn.3_3'UTR NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 367 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CTGGAGCCCTGAAACCCGACG 0.682 NaN 0 0 0 0.00499 0 16 29 MAEL 84944 broad.mit.edu 37 1 166959001 166959001 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:166959001T>C uc001gdy.1 + 2 231 c.160T>C c.(160-162)TAC>CAC p.Y54H MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 54 HMG box. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 AAAGGAGAAATACGCAGAAAT 0.532 NaN 0 0 0 0.021553 0 5 8 C1orf125 126859 broad.mit.edu 37 1 179399689 179399689 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:179399689G>C uc001gmo.2 + 14 1562 c.1435G>C c.(1435-1437)GAG>CAG p.E479Q C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.E267Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E479Q NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 479 Potential. 0 GTCTACAAGCGAGACACTGAA 0.368 NaN 0 0 0 0.00499 0 18 47 LHX4 89884 broad.mit.edu 37 1 180243439 180243439 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:180243439C>G uc001goe.1 + 6 1121 c.898C>G c.(898-900)CAG>GAG p.Q300E uc001gof.1_Intron NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 300 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ACAATCCTATCAGGACTTGAG 0.542 NaN 0 0 0 0.025465 0 40 81 RGL1 23179 broad.mit.edu 37 1 183895257 183895257 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:183895257C>T uc001gqo.2 + 18 2295 c.2138C>T c.(2137-2139)TCA>TTA p.S713L RGL1_uc001gqm.2_Missense_Mutation_p.S748L|RGL1_uc010pog.1_Missense_Mutation_p.S711L|RGL1_uc010poh.1_Missense_Mutation_p.S711L|RGL1_uc010poi.1_Missense_Mutation_p.S684L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 713 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 ATTCCAGACTCAGCAAATGTC 0.443 NaN 0 0 0 0.016723 0 14 47 PTGS2 5743 broad.mit.edu 37 1 186643532 186643532 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:186643532C>T uc001gsb.2 - 10 1905 c.1768G>A c.(1768-1770)GAT>AAT p.D590N PTGS2_uc009wyo.2_Missense_Mutation_p.D437N NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 590 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GGATTGATATCATCTAGTCCG 0.368 NaN 0 0 0 0.01892 0 26 52 FAM58B 339521 broad.mit.edu 37 1 200183226 200183226 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:200183226C>T uc009wzi.1 + 1 571 c.535C>T c.(535-537)CGG>TGG p.R179W NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 179 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) GGCCCTGCTGCGGGACAGCTA 0.637 NaN 0 0 0 0.006214 0 10 37 SPATA17 128153 broad.mit.edu 37 1 217804728 217804728 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:217804728C>G uc001hlh.1 + 1 34 c.8C>G c.(7-9)ACG>AGG p.T3R GPATCH2_uc001hlf.1_5'Flank|SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.T3R|GPATCH2_uc001hlg.3_5'Flank NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 3 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) ACCATGGCCACGTTAGCCCGG 0.527 NaN 0 0 0 0.014758 0 5 20 PCNXL2 80003 broad.mit.edu 37 1 233363102 233363102 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:233363102G>C uc001hvl.2 - 10 2609 c.2374C>G c.(2374-2376)CTG>GTG p.L792V PCNXL2_uc009xfu.2_Intron|PCNXL2_uc009xfv.1_Intron|PCNXL2_uc001hvq.1_Missense_Mutation_p.L91V NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 792 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GAGGCTTCCAGATCCTGACTC 0.343 NaN 0 0 0 0.020292 0 15 20 OR2M7 391196 broad.mit.edu 37 1 248487244 248487244 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:248487244G>A uc010pzk.1 - 1 627 c.627C>T c.(625-627)TTC>TTT p.F209F NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 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) TTGCAACAGGGAAAACAAGCA 0.418 NaN 0 0 0 0.01441 0 87 201 CELF2 10659 broad.mit.edu 37 10 11367804 11367804 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:11367804G>C uc001iki.3 + 12 1353 c.1261G>C c.(1261-1263)GAG>CAG p.E421Q CELF2_uc010qbj.1_Missense_Mutation_p.E427Q|CELF2_uc001ikk.2_Missense_Mutation_p.E446Q|CELF2_uc001ikl.3_Missense_Mutation_p.E434Q|CELF2_uc010qbl.1_Missense_Mutation_p.E397Q|CELF2_uc010qbm.1_Missense_Mutation_p.E193Q|CELF2_uc001iko.3_Missense_Mutation_p.E401Q|CELF2_uc001ikp.3_Missense_Mutation_p.E403Q|CELF2_uc010qbn.1_Missense_Mutation_p.E409Q|CELF2_uc010qbo.1_Missense_Mutation_p.E316Q|CELF2_uc010qbp.1_Missense_Mutation_p.E193Q NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 421 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 CTTAGGTCCAGAGGGGGCAAA 0.418 NaN 0 0 0 0.008291 0 11 36 TRDMT1 1787 broad.mit.edu 37 10 17216603 17216603 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:17216603C>T uc001iop.2 - 2 169 c.121G>A c.(121-123)GAA>AAA p.E41K TRDMT1_uc001ioq.2_Missense_Mutation_p.E41K|TRDMT1_uc001ior.2_Missense_Mutation_p.E41K|TRDMT1_uc001ios.2_5'UTR|TRDMT1_uc009xjt.2_Missense_Mutation_p.M7I|TRDMT1_uc010qcd.1_Missense_Mutation_p.E41K|TRDMT1_uc009xjs.1_Missense_Mutation_p.M7I|TRDMT1_uc009xju.1_RNA NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 41 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 TTGTATACTTCATTAGCGACA 0.363 NaN 0 0 0 0.024245 0 16 47 ANKRD26 22852 broad.mit.edu 37 10 27332447 27332447 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:27332447G>A uc001ith.2 - 20 2238 c.2066C>T c.(2065-2067)TCA>TTA p.S689L ANKRD26_uc001itg.2_Missense_Mutation_p.S376L|ANKRD26_uc009xku.1_Missense_Mutation_p.S690L NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 689 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGTTTCAGATGACTGAGTTAA 0.373 NaN 0 0 0 0.008291 0 11 12 SVIL 6840 broad.mit.edu 37 10 29776225 29776225 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:29776225C>G uc001iut.1 - 24 5105 c.4352G>C c.(4351-4353)AGA>ACA p.R1451T LOC387647_uc001iuq.1_RNA|SVIL_uc010qdw.1_Missense_Mutation_p.R365T|SVIL_uc001iuu.1_Missense_Mutation_p.R1025T|SVIL_uc009xlc.2_Missense_Mutation_p.R243T NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1451 Gelsolin-like 1.|Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CACATGTCTTCTTCCTGAACA 0.582 NaN 0 0 0 0.006214 0 9 23 MAP3K8 1326 broad.mit.edu 37 10 30727904 30727904 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:30727904G>C uc001ivi.1 + 3 733 c.37G>C c.(37-39)GAG>CAG p.E13Q MAP3K8_uc009xlf.1_Missense_Mutation_p.E13Q|MAP3K8_uc001ivj.1_Missense_Mutation_p.E13Q NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 13 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) CAATAAAGAAGAGATTGATTT 0.323 NaN 0 0 0 0.001984 0 7 15 MAP3K8 1326 broad.mit.edu 37 10 30727994 30727994 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:30727994G>C uc001ivi.1 + 3 823 c.127G>C c.(127-129)GAA>CAA p.E43Q MAP3K8_uc009xlf.1_Missense_Mutation_p.E43Q|MAP3K8_uc001ivj.1_Missense_Mutation_p.E43Q NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 43 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) AGCAGTTTATGAACCCAGTCT 0.363 NaN 0 0 0 0.016723 0 14 40 BMS1 9790 broad.mit.edu 37 10 43292616 43292616 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:43292616G>C uc001jaj.2 + 10 2282 c.1924G>C c.(1924-1926)GAA>CAA p.E642Q NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 642 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 CAGTGATATAGAAAATTTACT 0.373 NaN 0 0 0 0.008871 0 13 38 BMS1 9790 broad.mit.edu 37 10 43292652 43292652 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:43292652G>C uc001jaj.2 + 10 2318 c.1960G>C c.(1960-1962)GAA>CAA p.E654Q NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 654 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TTACAAGGAAGAAAATAATGA 0.383 NaN 0 0 0 0.013537 0 5 37 GDF2 2658 broad.mit.edu 37 10 48413880 48413880 + Missense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:48413880T>A uc001jfa.1 - 2 1151 c.988A>T c.(988-990)ACC>TCC p.T330S NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 330 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.T330I(1) ovary(2)|skin(1) 3 CGCAGGGAGGTCTTTTGACAG 0.607 NaN 0 0 0 0.016522 0 24 36 ANK3 288 broad.mit.edu 37 10 61830481 61830481 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:61830481C>T uc001jky.2 - 37 10350 c.10158G>A c.(10156-10158)GGG>GGA p.G3386G ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3386 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GGTCGTTGTTCCCATTCTGGG 0.468 NaN 0 0 0 0.015359 0 36 67 ANK3 288 broad.mit.edu 37 10 61831191 61831191 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:61831191C>G uc001jky.2 - 37 9640 c.9448G>C c.(9448-9450)GAT>CAT p.D3150H ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3150 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AGAGTATCATCTTCTGGACTA 0.428 NaN 0 0 0 0.00632 0 30 72 ZMIZ1 57178 broad.mit.edu 37 10 81037044 81037044 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:81037044C>G uc001kaf.2 + 8 959 c.387C>G c.(385-387)CTC>CTG p.L129L ZMIZ1_uc001kag.2_Silent_p.L5L|ZMIZ1_uc001kah.1_Silent_p.L5L NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 129 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGCCCCCTCTCAGCTCCATGA 0.622 NaN 0 0 0 0.004672 0 3 28 ARL3 403 broad.mit.edu 37 10 104459170 104459170 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:104459170C>G uc001kwa.2 - 3 382 c.224G>C c.(223-225)AGA>ACA p.R75T NM_004311 NP_004302 P36405 ARL3_HUMAN ADP-ribosylation factor-like 3 75 cell cycle|cytokinesis|small GTPase mediated signal transduction centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding 0 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) CCAGTATGGTCTGATTTTCCT 0.358 NaN 0 0 0 0.021553 0 6 8 TACC2 10579 broad.mit.edu 37 10 123903125 123903125 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr10:123903125C>T uc001lfv.2 + 7 6098 c.5738C>T c.(5737-5739)TCG>TTG p.S1913L TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1913 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCCTCCCTCGGCTGCAGAA 0.562 NaN OREG0020589 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 10 40 MUC6 4588 broad.mit.edu 37 11 1026380 1026380 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:1026380G>A uc001lsw.2 - 20 2544 c.2493C>T c.(2491-2493)TTC>TTT p.F831F NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 831 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGACCCCCGAGAACTCACATG 0.647 NaN 0 0 0 0.021553 0 6 11 DCHS1 8642 broad.mit.edu 37 11 6643190 6643190 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:6643190G>A uc001mem.1 - 21 10127 c.9717C>T c.(9715-9717)ATC>ATT p.I3239I TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 3239 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCATGGCTGATGGGGGAGC 0.642 NaN 0 0 0 0.00308 0 7 6 CSRP3 8048 broad.mit.edu 37 11 19209781 19209781 + Silent SNP G G A rs34075817 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:19209781G>A uc001mpk.2 - 3 300 c.183C>T c.(181-183)TGC>TGT p.C61C NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 61 LIM zinc-binding 1. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 TGCGCCCATAGCACACCTTGC 0.587 NaN 0 0 0 0.01892 0 25 48 DCDC1 341019 broad.mit.edu 37 11 31327862 31327862 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:31327862G>C uc001msv.2 - 5 710 c.508C>G c.(508-510)CAA>GAA p.Q170E DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 170 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) ACTCTTGGTTGAAGTTTGTGT 0.368 NaN 0 0 0 0.007413 0 20 25 TNKS1BP1 85456 broad.mit.edu 37 11 57076206 57076206 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:57076206C>G uc001njr.2 - 5 4291 c.3979G>C c.(3979-3981)GAC>CAC p.D1327H TNKS1BP1_uc001njs.2_Missense_Mutation_p.D1327H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.D778H NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 1327 Gly-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CCTCCAGAGTCTGGGTCACAG 0.607 NaN 0 0 0 0.01441 0 56 100 PRPF19 27339 broad.mit.edu 37 11 60671234 60671234 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:60671234T>C uc001nqf.2 - 2 326 c.119A>G c.(118-120)GAC>GGC p.D40G NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 40 U-box. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 GTTGATGGGGTCGGTACCATT 0.532 NaN 0 0 0 0.014323 0 22 42 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Silent SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:61161357T>G uc010rlj.1 + 3 410 c.117T>G c.(115-117)GGT>GGG p.G39G TMEM216_uc001nrn.1_5'UTR NM_016499 NP_057583 Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane 0 TATTGGCAGGTGTCCTGCTAC 0.438 NaN 0 0 0 0.006214 0 6 20 MARK2 2011 broad.mit.edu 37 11 63666131 63666131 + Missense_Mutation SNP A A T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:63666131A>T uc001nxw.2 + 5 968 c.389A>T c.(388-390)GAG>GTG p.E130V MARK2_uc001nxx.2_Missense_Mutation_p.E130V|MARK2_uc001nxy.2_Missense_Mutation_p.E130V|MARK2_uc001nxv.3_Missense_Mutation_p.E130V|MARK2_uc001nxz.3_Missense_Mutation_p.E97V|MARK2_uc009yoy.2_Missense_Mutation_p.E97V NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 130 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CTTGTCATGGAGTACGCTAGT 0.498 NaN 0 0 0 0.027356 0 26 45 FERMT3 83706 broad.mit.edu 37 11 63978782 63978782 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:63978782C>T uc001nyl.2 + 5 699 c.550C>T c.(550-552)CAC>TAC p.H184Y FERMT3_uc001nym.2_Missense_Mutation_p.H184Y NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 184 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 GATGCCAGCTCACTTCTCGGA 0.706 NaN 0 0 0 0.013537 0 11 9 MEN1 4221 broad.mit.edu 37 11 64575138 64575138 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:64575138C>T uc001obj.2 - 4 757 c.684G>A c.(682-684)CTG>CTA p.L228L MEN1_uc001obk.2_Silent_p.L228L|MEN1_uc001obl.2_Silent_p.L188L|MEN1_uc001obm.2_Silent_p.L223L|MEN1_uc001obn.2_Silent_p.L228L|MEN1_uc001obo.2_Silent_p.L228L|MEN1_uc001obp.2_Silent_p.L223L|MEN1_uc001obq.2_Silent_p.L228L|MEN1_uc001obr.2_Silent_p.L228L NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 228 Interaction with FANCD2. L -> P (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 ATGATCCTTTCAGGTACAGCC 0.552 NaN D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.01892 0 23 22 DPP3 10072 broad.mit.edu 37 11 66259013 66259013 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:66259013G>A uc001oig.1 + 8 909 c.847G>A c.(847-849)GAG>AAG p.E283K DPP3_uc001oif.1_Missense_Mutation_p.E283K|DPP3_uc010rpe.1_Missense_Mutation_p.E272K NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 283 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 CCAGTATATAGAGAGCTTCAC 0.657 NaN OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00499 0 16 25 ADRBK1 156 broad.mit.edu 37 11 67052379 67052379 + Missense_Mutation SNP C C G rs1051181 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:67052379C>G uc009yrn.1 + 19 1982 c.1716C>G c.(1714-1716)TTC>TTG p.F572L ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 572 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCAACCCCTTCCTGACCCAGT 0.667 NaN 0 0 0 0.010729 0 12 22 SYTL2 54843 broad.mit.edu 37 11 85445049 85445049 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:85445049G>C uc010rth.1 - 6 1596 c.1320C>G c.(1318-1320)ATC>ATG p.I440M SYTL2_uc010rtg.1_Missense_Mutation_p.I441M|SYTL2_uc010rti.1_Missense_Mutation_p.I440M|SYTL2_uc010rtj.1_Missense_Mutation_p.I392M|SYTL2_uc001pbf.3_Missense_Mutation_p.I440M|SYTL2_uc010rtf.1_Missense_Mutation_p.I298M NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 440 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGGTTCATTGATGGTTGGTG 0.383 NaN 0 0 0 0.00632 0 30 64 SYTL2 54843 broad.mit.edu 37 11 85445395 85445395 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:85445395G>C uc010rth.1 - 6 1250 c.974C>G c.(973-975)TCC>TGC p.S325C SYTL2_uc010rtg.1_Missense_Mutation_p.S326C|SYTL2_uc010rti.1_Missense_Mutation_p.S325C|SYTL2_uc010rtj.1_Missense_Mutation_p.S277C|SYTL2_uc001pbf.3_Missense_Mutation_p.S325C|SYTL2_uc010rtf.1_Missense_Mutation_p.S183C NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 325 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGCTCCAGGGAGTTTGGGGA 0.448 NaN 0 0 0 0.009535 0 32 74 OR8D2 283160 broad.mit.edu 37 11 124189263 124189263 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:124189263G>A uc010sah.1 - 1 831 c.831C>T c.(829-831)TTC>TTT p.F277F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTGTGATGTAGAACACAGAAG 0.423 NaN 0 0 0 0.013726 0 33 54 KCNJ1 3758 broad.mit.edu 37 11 128709677 128709677 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr11:128709677G>C uc001qeo.1 - 2 570 c.519C>G c.(517-519)TTC>TTG p.F173L KCNJ1_uc001qep.1_Missense_Mutation_p.F154L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F154L|KCNJ1_uc001qer.1_Missense_Mutation_p.F154L|KCNJ1_uc001qes.1_Missense_Mutation_p.F154L NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 173 Helical; Name=M2; (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CCCCACACATGAAAGAATTGA 0.458 NaN 0 0 0 0.019004 0 36 51 CHD4 1108 broad.mit.edu 37 12 6700750 6700750 + Splice_Site SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:6700750C>T uc001qpo.2 - 22 3387 c.3223_splice c.e22-1 p.M1075_splice CHD4_uc001qpn.2_Splice_Site_p.M1068_splice|CHD4_uc001qpp.2_Splice_Site_p.M1072_splice NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCTTGGTCATCTGCAAAAGAA 0.453 NaN 0 0 0 0.01441 0 67 89 DENND5B 160518 broad.mit.edu 37 12 31605240 31605240 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:31605240C>G uc001rki.1 - 5 1449 c.1263G>C c.(1261-1263)AAG>AAC p.K421N DENND5B_uc001rkh.1_Missense_Mutation_p.K456N|DENND5B_uc009zjq.1_Missense_Mutation_p.K340N|DENND5B_uc001rkj.2_Missense_Mutation_p.K443N|DENND5B_uc001rkk.1_Missense_Mutation_p.K343N NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 421 integral to membrane ovary(1)|central_nervous_system(1) 2 GAACCATATTCTTCAGTTTGC 0.408 NaN 0 0 0 0.012213 0 31 52 LRRK2 120892 broad.mit.edu 37 12 40699617 40699617 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:40699617C>T uc001rmg.3 + 28 3929 c.3808C>T c.(3808-3810)CTG>TTG p.L1270L LRRK2_uc009zjw.2_Silent_p.L108L|LRRK2_uc001rmi.2_Silent_p.L103L NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1270 LRR 12. 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) TCTTGAAAATCTGACATCTCT 0.403 NaN 0 0 0 0.008871 0 20 32 MLL2 8085 broad.mit.edu 37 12 49434621 49434621 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:49434621G>A uc001rta.3 - 31 6932 c.6932C>T c.(6931-6933)TCC>TTC p.S2311F NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2311 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGTGCCTGAGGAGGGTGAGTC 0.612 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.024245 0 16 23 SMARCC2 6601 broad.mit.edu 37 12 56563943 56563943 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:56563943C>G uc001skb.2 - 22 2410 c.2304G>C c.(2302-2304)GAG>GAC p.E768D SMARCC2_uc001skd.2_Missense_Mutation_p.E799D|SMARCC2_uc001ska.2_Missense_Mutation_p.E799D|SMARCC2_uc001skc.2_Missense_Mutation_p.E798D|SMARCC2_uc010sqf.1_Missense_Mutation_p.E688D NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 768 Glu-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCTCCTTCTTCTCATCTGTGG 0.537 NaN 0 0 0 0.013537 0 11 26 SLC39A5 283375 broad.mit.edu 37 12 56629471 56629471 + Missense_Mutation SNP G G C rs145666015 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:56629471G>C uc010sqj.1 + 8 1189 c.932G>C c.(931-933)CGA>CCA p.R311P SLC39A5_uc010sqi.1_Missense_Mutation_p.R202P|SLC39A5_uc010sqk.1_Missense_Mutation_p.R311P NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 311 Cytoplasmic (Potential). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 TTGCGGCACCGAGGGCTCAGG 0.532 NaN 0 0 0 0.023175 0 41 86 TMEM194A 23306 broad.mit.edu 37 12 57472433 57472433 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:57472433C>G uc001smy.2 - 1 142 c.96G>C c.(94-96)TTG>TTC p.L32F TMEM194A_uc001smx.2_Missense_Mutation_p.L32F|TMEM194A_uc010sra.1_5'UTR NM_001130963 NP_001124435 O14524 T194A_HUMAN transmembrane protein 194A isoform a 32 Helical; (Potential). integral to membrane 0 CGGAGAGGATCAAGAGTAGCC 0.657 NaN 0 0 0 0.00499 0 15 35 LRP1 4035 broad.mit.edu 37 12 57550665 57550665 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:57550665C>G uc001snd.2 + 10 1989 c.1523C>G c.(1522-1524)TCC>TGC p.S508C NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 508 EGF-like 3.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGCTGCCGTTCCGGCTTCAGC 0.632 NaN 0 0 0 0.021553 0 5 13 TBK1 29110 broad.mit.edu 37 12 64882283 64882283 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:64882283G>A uc001ssc.1 + 12 1419 c.1357G>A c.(1357-1359)GAT>AAT p.D453N NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 453 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) AATTAAAGATGATTACAATGA 0.269 NaN 0 0 0 0.00308 0 7 8 RPL6 6128 broad.mit.edu 37 12 112843711 112843711 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:112843711C>T uc001ttu.2 - 6 889 c.660G>A c.(658-660)AAG>AAA p.K220K RPL6_uc001ttv.2_Silent_p.K220K NM_001024662 NP_001019833 Q02878 RL6_HUMAN ribosomal protein L6 220 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome large_intestine(1) 1 TCCGCAGCTTCTTCTTCTTGA 0.423 NaN 0 0 0 0.028581 0 16 31 TMEM120B 144404 broad.mit.edu 37 12 122199641 122199641 + Nonsense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:122199641C>G uc001ubc.3 + 6 692 c.548C>G c.(547-549)TCA>TGA p.S183* TMEM120B_uc009zxh.2_Nonsense_Mutation_p.S183* NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 183 integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) AGCAACGGCTCAAGGTACCTG 0.557 NaN 0 0 0 0.020292 0 14 31 ZCCHC8 55596 broad.mit.edu 37 12 122962400 122962400 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:122962400C>G uc001ucn.2 - 13 1464 c.1333G>C c.(1333-1335)GAG>CAG p.E445Q ZCCHC8_uc001ucl.2_Missense_Mutation_p.E56Q|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E207Q|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E207Q|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E207Q NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 445 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GAATCGAGCTCCATGTCGGCG 0.343 NaN 0 0 0 0.006214 0 10 14 NCOR2 9612 broad.mit.edu 37 12 124821437 124821437 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:124821437G>A uc010tay.1 - 40 6163 c.6007C>T c.(6007-6009)CGC>TGC p.R2003C NCOR2_uc010taz.1_Missense_Mutation_p.R1987C|NCOR2_uc010tax.1_Missense_Mutation_p.R114C NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2004 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCAGGGGTGCGGGCGATGGTG 0.731 NaN 0 0 0 0.00308 0 8 13 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs28513925 by1000genomes TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr12:132547093A>G uc001ujn.2 + 46 8216 c.8181A>G c.(8179-8181)CAA>CAG p.Q2727Q EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2763 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.294 NaN 0 0 0 0.021553 0 6 36 ZMYM5 9205 broad.mit.edu 37 13 20411884 20411884 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:20411884G>A uc010tcn.1 - 6 1215 c.950C>T c.(949-951)TCT>TTT p.S317F ZMYM5_uc001umm.1_Missense_Mutation_p.S141F|ZMYM5_uc001umn.2_Missense_Mutation_p.S317F|ZMYM5_uc001umo.2_3'UTR NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 317 MYM-type 2. nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) AGACAAACAAGATGTACTATA 0.338 NaN 0 0 0 0.010729 0 10 48 AKAP11 11215 broad.mit.edu 37 13 42874879 42874879 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:42874879C>T uc001uys.1 + 8 2172 c.1997C>T c.(1996-1998)TCA>TTA p.S666L NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 666 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGTCAGTTTTCATATCCTCAA 0.403 NaN 0 0 0 0.00632 0 29 78 MLNR 2862 broad.mit.edu 37 13 49796426 49796426 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:49796426G>A uc010tgj.1 + 2 1152 c.1152G>A c.(1150-1152)AGG>AGA p.R384R NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 384 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) ACAGAAGCAGGGACACTGCGG 0.567 NaN 0 0 0 0.00499 0 18 39 RAP2A 5911 broad.mit.edu 37 13 98116619 98116619 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr13:98116619G>A uc001vnd.2 + 2 725 c.475G>A c.(475-477)GAA>AAA p.E159K NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 159 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) ACTCTTTGCAGAAATTGTGAG 0.478 NaN 0 0 0 0.027356 0 28 86 MYH7 4625 broad.mit.edu 37 14 23884449 23884449 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:23884449C>G uc001wjx.2 - 37 5420 c.5314G>C c.(5314-5316)GAG>CAG p.E1772Q NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1772 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTGTCCTGCTCCTTCTTCAGC 0.602 NaN 0 0 0 0.021523 0 23 71 NFATC4 4776 broad.mit.edu 37 14 24843541 24843541 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:24843541C>T uc001wpc.2 + 6 2063 c.1742C>T c.(1741-1743)TCA>TTA p.S581L NFATC4_uc010tok.1_Missense_Mutation_p.S644L|NFATC4_uc010tol.1_Missense_Mutation_p.S644L|NFATC4_uc010alr.2_Missense_Mutation_p.S644L|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Missense_Mutation_p.S594L|NFATC4_uc010ton.1_Missense_Mutation_p.S594L|NFATC4_uc010too.1_Missense_Mutation_p.S594L|NFATC4_uc010alt.2_Missense_Mutation_p.S613L|NFATC4_uc010top.1_Missense_Mutation_p.S613L|NFATC4_uc010toq.1_Missense_Mutation_p.S613L|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Missense_Mutation_p.S581L|NFATC4_uc010tos.1_Missense_Mutation_p.S511L|NFATC4_uc010tot.1_Missense_Mutation_p.S569L|NFATC4_uc010tou.1_Missense_Mutation_p.S511L|NFATC4_uc010tov.1_Missense_Mutation_p.S569L|NFATC4_uc010tow.1_Missense_Mutation_p.S511L|NFATC4_uc010alv.2_Missense_Mutation_p.S569L|NFATC4_uc010tox.1_Missense_Mutation_p.S511L|NFATC4_uc001wpd.2_Missense_Mutation_p.S116L|NFATC4_uc010toy.1_Missense_Mutation_p.S116L|NFATC4_uc010toz.1_Missense_Mutation_p.S116L|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 581 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GCCCAGCGCTCAGCCCAGGAG 0.642 NaN 0 0 0 0.001984 0 6 13 HECTD1 25831 broad.mit.edu 37 14 31613367 31613367 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:31613367C>G uc001wrc.1 - 17 3217 c.2728G>C c.(2728-2730)GAA>CAA p.E910Q HECTD1_uc001wrd.1_Missense_Mutation_p.E425Q NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 910 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTACACATTTCATATGGTGAA 0.303 NaN 0 0 0 0.004482 0 8 16 MIPOL1 145282 broad.mit.edu 37 14 37892073 37892073 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:37892073C>G uc001wuc.2 + 12 1453 c.950C>G c.(949-951)TCT>TGT p.S317C MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.S286C|MIPOL1_uc001wud.2_Missense_Mutation_p.S317C|MIPOL1_uc010ams.2_Missense_Mutation_p.S317C|MIPOL1_uc001wue.2_Missense_Mutation_p.S286C|MIPOL1_uc010amt.2_Missense_Mutation_p.S136C NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 317 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AAGTTGTTATCTATGCAACAA 0.323 NaN 0 0 0 0.004672 0 3 12 PNN 5411 broad.mit.edu 37 14 39644553 39644553 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:39644553G>A uc001wuw.3 + 1 167 c.70G>A c.(70-72)GAG>AAG p.E24K NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 24 Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GAACGTGGATGAGAACATTCG 0.577 NaN 0 0 0 0.021553 0 5 20 SLC38A6 145389 broad.mit.edu 37 14 61517300 61517300 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:61517300G>A uc001xfg.1 + 13 1112 c.996G>A c.(994-996)GTG>GTA p.V332V SLC38A6_uc001xfh.1_Silent_p.V332V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Silent_p.V309V NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 332 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TCATGACTGTGAAGTTATGCA 0.343 NaN 0 0 0 0.010729 0 11 23 SYNE2 23224 broad.mit.edu 37 14 64449432 64449432 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:64449432G>C uc001xgm.2 + 17 2151 c.1921G>C c.(1921-1923)GAT>CAT p.D641H SYNE2_uc001xgl.2_Missense_Mutation_p.D641H NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 641 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTCAGCAATGATGTGGTTGG 0.373 NaN 0 0 0 0.008361 0 30 43 KCNK10 54207 broad.mit.edu 37 14 88693731 88693731 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:88693731C>T uc001xwo.2 - 4 1111 c.654G>A c.(652-654)GAG>GAA p.E218E KCNK10_uc001xwm.2_Silent_p.E223E|KCNK10_uc001xwn.2_Silent_p.E223E NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 218 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GAAAGACCTTCTCCACTCTTG 0.428 NaN 0 0 0 0.008871 0 21 37 KCNK10 54207 broad.mit.edu 37 14 88693853 88693853 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:88693853C>T uc001xwo.2 - 4 989 c.532G>A c.(532-534)GAA>AAA p.E178K KCNK10_uc001xwm.2_Missense_Mutation_p.E183K|KCNK10_uc001xwn.2_Missense_Mutation_p.E183K NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 178 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 TTGCCTCCTTCAGTGCTCGGA 0.403 NaN 0 0 0 0.01892 0 25 63 CDC42BPB 9578 broad.mit.edu 37 14 103416915 103416915 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr14:103416915G>T uc001ymi.1 - 25 3429 c.3197C>A c.(3196-3198)TCC>TAC p.S1066Y CDC42BPB_uc001ymj.1_Missense_Mutation_p.S168Y NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1066 Phorbol-ester/DAG-type. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GTCTTTGCAGGACACGTGGCA 0.572 NaN 1 0 1.96292e-10 0.010504 2.08956e-10 20 31 TJP1 7082 broad.mit.edu 37 15 30019056 30019056 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:30019056G>A uc001zcr.2 - 17 2715 c.2240C>T c.(2239-2241)TCT>TTT p.S747F TJP1_uc010azl.2_Missense_Mutation_p.S735F|TJP1_uc001zcq.2_Missense_Mutation_p.S751F|TJP1_uc001zcs.2_Missense_Mutation_p.S747F NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 747 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ACTTTTCCGAGATTCTGGACA 0.363 NaN 0 0 0 0.00874 0 42 67 RYR3 6263 broad.mit.edu 37 15 34078093 34078093 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:34078093G>A uc001zhi.2 + 66 9569 c.9499G>A c.(9499-9501)GAA>AAA p.E3167K RYR3_uc010bar.2_Missense_Mutation_p.E3167K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3167 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGTCACCTCTGAACACCTCAG 0.562 NaN 0 0 0 0.01441 0 57 88 BUB1B 701 broad.mit.edu 37 15 40475992 40475992 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:40475992C>G uc001zkx.3 + 6 871 c.659C>G c.(658-660)TCT>TGT p.S220C BUB1B_uc010ucl.1_Missense_Mutation_p.S83C NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 220 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-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;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTTGAGTCTTCTGTACCACAA 0.448 NaN Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 0 0 0 0.021523 0 26 27 SHC4 399694 broad.mit.edu 37 15 49148320 49148320 + Nonsense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:49148320C>A uc001zxb.1 - 8 1501 c.1072G>T c.(1072-1074)GAG>TAG p.E358* SHC4_uc010uey.1_Nonsense_Mutation_p.E115*|SHC4_uc010uez.1_Nonsense_Mutation_p.E72* NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 358 PID. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TGCACCTCCTCACTGTGAAGG 0.428 NaN 1 0 4.47668e-21 0.021523 4.85955e-21 27 54 HERC1 8925 broad.mit.edu 37 15 63908120 63908120 + Splice_Site SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:63908120C>G uc002amp.2 - 76 14090 c.13942_splice c.e76-1 p.M4648_splice NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GAGGAATCATCTAGGAACAGA 0.358 NaN 0 0 0 0.004672 0 3 4 ACAN 176 broad.mit.edu 37 15 89392692 89392692 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr15:89392692C>T uc010upo.1 + 10 2130 c.1756C>T c.(1756-1758)CTT>TTT p.L586F ACAN_uc002bmx.2_Missense_Mutation_p.L586F|ACAN_uc010upp.1_Missense_Mutation_p.L586F|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 586 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CGCCACACGCCTTGAGCAGTT 0.632 NaN 0 0 0 0.001984 0 6 8 CREBBP 1387 broad.mit.edu 37 16 3788651 3788651 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:3788651C>G uc002cvv.2 - 26 4507 c.4303G>C c.(4303-4305)GAT>CAT p.D1435H CREBBP_uc002cvw.2_Missense_Mutation_p.D1397H NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1435 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.D1435G(1)|p.D1435E(1) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGAATACTATCCAGATAAGAA 0.433 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.014758 0 5 10 UBN1 29855 broad.mit.edu 37 16 4924401 4924401 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:4924401G>A uc002cyb.2 + 15 2329 c.1990G>A c.(1990-1992)GAC>AAC p.D664N UBN1_uc010uxw.1_Missense_Mutation_p.D664N|UBN1_uc002cyc.2_Missense_Mutation_p.D664N NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 664 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 ATTGGATGAAGACTTGATCCG 0.577 NaN 0 0 0 0.021022 0 40 102 SMG1 23049 broad.mit.edu 37 16 18841068 18841068 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:18841068G>A uc002dfm.2 - 54 9506 c.9143C>T c.(9142-9144)TCA>TTA p.S3048L SMG1_uc010bwb.2_Missense_Mutation_p.S2908L|SMG1_uc010bwa.2_Missense_Mutation_p.S1779L NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3048 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATCTTCAAGTGAACTTGATCC 0.323 NaN 0 0 0 0.020292 0 14 15 RBL2 5934 broad.mit.edu 37 16 53524211 53524211 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:53524211G>A uc002ehi.3 + 22 3537 c.3419G>A c.(3418-3420)TGA>TAA p.*1140* RBL2_uc002ehj.2_Silent_p.*850*|RBL2_uc010vgw.1_Silent_p.*519* NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1140 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GGTTCCCACTGAGGTTAGTCT 0.403 NaN 0 0 0 0.028581 0 16 36 SLC9A5 6553 broad.mit.edu 37 16 67291253 67291253 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:67291253G>C uc002esm.2 + 8 1404 c.1341G>C c.(1339-1341)TTG>TTC p.L447F SLC9A5_uc010cee.2_Missense_Mutation_p.L152F|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 447 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CATAGGGCTTGACCATCAAGC 0.542 NaN 0 0 0 0.013537 0 13 39 KCTD19 146212 broad.mit.edu 37 16 67324842 67324842 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:67324842G>A uc002esu.2 - 15 2664 c.2613C>T c.(2611-2613)ATC>ATT p.I871I KCTD19_uc002est.2_Silent_p.I643I|KCTD19_uc010vjj.1_Silent_p.I614I NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 871 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TGAAGCCGGTGATGGCCAGCA 0.617 NaN 0 0 0 0.021553 0 4 10 PRMT7 54496 broad.mit.edu 37 16 68373809 68373809 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:68373809G>C uc002evy.1 + 9 1141 c.865G>C c.(865-867)GAG>CAG p.E289Q PRMT7_uc002evx.1_Missense_Mutation_p.E289Q|PRMT7_uc010vlg.1_Missense_Mutation_p.E239Q|PRMT7_uc002evz.1_Missense_Mutation_p.E135Q NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 289 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) AATGGACCCTGAGGGGAAGAT 0.572 NaN 0 0 0 0.028581 0 17 20 PHLPP2 23035 broad.mit.edu 37 16 71718490 71718490 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:71718490C>G uc002fax.2 - 4 630 c.624G>C c.(622-624)AAG>AAC p.K208N PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Missense_Mutation_p.K208N|PHLPP2_uc002fay.1_Missense_Mutation_p.K208N NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 208 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 ATTGCCGTCGCTTCACTTCTT 0.473 NaN 0 0 0 0.001984 0 7 18 ZFHX3 463 broad.mit.edu 37 16 72831063 72831063 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:72831063G>C uc002fck.2 - 9 6191 c.5518C>G c.(5518-5520)CAG>GAG p.Q1840E ZFHX3_uc002fcl.2_Missense_Mutation_p.Q926E NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1840 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) TGTGGGACCTGAACCTGAGCC 0.592 NaN 0 0 0 0.00632 0 30 37 TMEM231 79583 broad.mit.edu 37 16 75579304 75579304 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:75579304C>G uc002fem.2 - 4 591 c.528G>C c.(526-528)CTG>CTC p.L176L CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L205L|TMEM231_uc002fel.2_Silent_p.L60L|TMEM231_uc010vne.1_Silent_p.L29L|TMEM231_uc010cgx.1_Silent_p.L140L NM_001077418 NP_001070886 Q9H6L2 TM231_HUMAN transmembrane protein 231 isoform 2 176 integral to membrane 0 GCTGCAGCCTCAGGTCTCCGT 0.542 NaN 0 0 0 0.01441 0 39 47 KARS 3735 broad.mit.edu 37 16 75663370 75663370 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:75663370C>T uc002feq.2 - 12 1542 c.1494G>A c.(1492-1494)GCG>GCA p.A498A KARS_uc002fer.2_Silent_p.A526A|KARS_uc002fes.2_Silent_p.A342A NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 498 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding p.A498A(1) ovary(2) 2 L-Lysine(DB00123) GCTCAGTATACGCATTGCATA 0.517 NaN 0 0 0 0.019004 0 36 69 SPIRE2 84501 broad.mit.edu 37 16 89929916 89929916 + Silent SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr16:89929916G>C uc002foz.1 + 11 1660 c.1608G>C c.(1606-1608)CTG>CTC p.L536L SPIRE2_uc010ciw.1_Silent_p.L536L|SPIRE2_uc002fpa.1_Silent_p.L488L|SPIRE2_uc010cix.1_Silent_p.L403L NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 536 Spir-box. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GCCTGGCGCTGACTGTGGAAG 0.572 NaN 0 0 0 0.010729 0 11 24 SRR 63826 broad.mit.edu 37 17 2222158 2222158 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:2222158G>C uc002fue.1 + 4 402 c.334G>C c.(334-336)GAC>CAC p.D112H SRR_uc002fui.1_5'UTR NM_021947 NP_068766 Q9GZT4 SRR_HUMAN serine racemase 112 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity 0 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GACAGCTCCAGACTGTAAAAA 0.423 NaN 0 0 0 0.01441 0 79 33 ATP2A3 489 broad.mit.edu 37 17 3854917 3854917 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:3854917G>A uc002fxb.1 - 4 433 c.282C>T c.(280-282)ATC>ATT p.I94I ATP2A3_uc002fwx.1_Silent_p.I94I|ATP2A3_uc002fwy.1_Silent_p.I94I|ATP2A3_uc002fwz.1_Silent_p.I94I|ATP2A3_uc002fxa.1_Silent_p.I94I|ATP2A3_uc002fxc.1_Silent_p.I94I|ATP2A3_uc002fxd.1_Silent_p.I94I NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 94 Helical; Name=2; (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGATCAGCATGATGACCAGGG 0.687 NaN 0 0 0 0.006214 0 9 4 NCOR1 9611 broad.mit.edu 37 17 15960870 15960870 + Nonsense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:15960870G>C uc002gpo.2 - 40 6590 c.6350C>G c.(6349-6351)TCA>TGA p.S2117* NCOR1_uc002gpn.2_Nonsense_Mutation_p.S2014*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.S132*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.S637*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.S701*|NCOR1_uc010coy.2_Nonsense_Mutation_p.S1025*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.S927* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2117 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGAGACCCTTGAACCTGGTCT 0.408 NaN 0 0 0 0.015359 0 33 62 NCOR1 9611 broad.mit.edu 37 17 15960927 15960927 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:15960927G>A uc002gpo.2 - 40 6533 c.6293C>T c.(6292-6294)TCA>TTA p.S2098L NCOR1_uc002gpn.2_Missense_Mutation_p.S1995L|NCOR1_uc002gpl.2_Missense_Mutation_p.S113L|NCOR1_uc002gpm.2_Missense_Mutation_p.S618L|NCOR1_uc010vwb.1_Missense_Mutation_p.S682L|NCOR1_uc010coy.2_Missense_Mutation_p.S1006L|NCOR1_uc010vwc.1_Missense_Mutation_p.S908L NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2098 Interaction with C1D (By similarity).|ID1 (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTAACGGTTTGATGTTTTAGT 0.483 NaN 0 0 0 0.014323 0 22 50 NCOR1 9611 broad.mit.edu 37 17 15961794 15961794 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:15961794G>C uc002gpo.2 - 38 6241 c.6001C>G c.(6001-6003)CAA>GAA p.Q2001E NCOR1_uc002gpn.2_Missense_Mutation_p.Q1898E|NCOR1_uc002gpl.2_5'Flank|NCOR1_uc002gpm.2_Missense_Mutation_p.Q521E|NCOR1_uc010vwb.1_Missense_Mutation_p.Q585E|NCOR1_uc010coy.2_Missense_Mutation_p.Q909E|NCOR1_uc010vwc.1_Missense_Mutation_p.Q811E NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2001 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTTCCGCTTGATTTGCCTTA 0.413 NaN 0 0 0 0.00632 0 26 60 RAI1 10743 broad.mit.edu 37 17 17700785 17700785 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:17700785C>T uc002grm.2 + 3 4992 c.4523C>T c.(4522-4524)TCC>TTC p.S1508F RAI1_uc002grn.1_Missense_Mutation_p.S1508F NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1508 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GGCCTGGCCTCCCAGCCCCCG 0.642 NaN 0 0 0 0.00632 0 29 6 NLK 51701 broad.mit.edu 37 17 26518092 26518092 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:26518092G>C uc010crj.2 + 9 1494 c.1282G>C c.(1282-1284)GAT>CAT p.D428H NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 428 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCCCTACCTAGATGAAGGGCG 0.438 NaN 0 0 0 0.014323 0 21 70 SRCIN1 80725 broad.mit.edu 37 17 36704795 36704795 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:36704795C>G uc002hqd.2 - 17 3493 c.3268G>C c.(3268-3270)GAG>CAG p.E1090Q SRCIN1_uc002hqf.1_Missense_Mutation_p.E962Q|SRCIN1_uc002hqe.2_Missense_Mutation_p.E944Q NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 962 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 TGACCTACCTCTAGCTCTGCG 0.662 NaN 0 0 0 0.010504 0 22 58 ERBB2 2064 broad.mit.edu 37 17 37880220 37880220 + Missense_Mutation SNP T T C rs121913470 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:37880220T>C uc002hso.2 + 19 2502 c.2264T>C c.(2263-2265)TTG>TCG p.L755S ERBB2_uc002hsm.2_Missense_Mutation_p.L725S|ERBB2_uc010cwa.2_Missense_Mutation_p.L740S|ERBB2_uc002hsp.2_Missense_Mutation_p.L558S|ERBB2_uc010cwb.2_Missense_Mutation_p.L755S|ERBB2_uc010wek.1_Missense_Mutation_p.L479S NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 755 Cytoplasmic (Potential).|Protein kinase. L -> P (in a lung adenocarcinoma sample; somatic mutation). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L755S(4)|p.L755P(2)|p.L755_S760>A(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAAGTGTTGAGGGAAAAC 0.532 L755S(LN229_CENTRAL_NERVOUS_SYSTEM) 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.024245 0 16 22 SLC25A39 51629 broad.mit.edu 37 17 42400878 42400878 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:42400878G>A uc002ign.2 - 2 207 c.53C>T c.(52-54)TCA>TTA p.S18L SLC25A39_uc002igm.2_Missense_Mutation_p.S18L|SLC25A39_uc002igo.2_Missense_Mutation_p.S18L|SLC25A39_uc010wiw.1_Missense_Mutation_p.S18L|SLC25A39_uc010czu.2_Intron|SLC25A39_uc010wix.1_Missense_Mutation_p.S18L|SLC25A39_uc010wiy.1_Missense_Mutation_p.S18L NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 18 Solcar 1.|Helical; Name=1; (Potential). heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) CCCGGTGCCTGAGGCCACCAT 0.607 NaN 0 0 0 0.004672 0 3 3 TTLL6 284076 broad.mit.edu 37 17 46862467 46862467 + Nonsense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:46862467C>A uc010wlo.1 - 14 1893 c.1858G>T c.(1858-1860)GAG>TAG p.E620* TTLL6_uc002iob.2_Nonsense_Mutation_p.E313*|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Nonsense_Mutation_p.E373*|TTLL6_uc002iod.2_Nonsense_Mutation_p.E467* NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 572 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 GTGGGAGCCTCCTGGTTGAGG 0.507 NaN 1 0 2.68985e-26 0.01441 2.92954e-26 49 100 TTLL6 284076 broad.mit.edu 37 17 46862485 46862485 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:46862485C>T uc010wlo.1 - 14 1875 c.1840G>A c.(1840-1842)GAC>AAC p.D614N TTLL6_uc002iob.2_Missense_Mutation_p.D307N|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.D367N|TTLL6_uc002iod.2_Missense_Mutation_p.D461N NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 566 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 AGGCTGCTGTCTGTTTCATTT 0.512 NaN 0 0 0 0.013114 0 48 96 SPOP 8405 broad.mit.edu 37 17 47688672 47688672 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:47688672C>G uc010dbk.2 - 7 1260 c.628G>C c.(628-630)GAA>CAA p.E210Q SPOP_uc002ipb.2_Missense_Mutation_p.E210Q|SPOP_uc002ipc.2_Missense_Mutation_p.E210Q|SPOP_uc002ipd.2_Missense_Mutation_p.E210Q|SPOP_uc002ipe.2_Missense_Mutation_p.E210Q|SPOP_uc002ipf.2_Missense_Mutation_p.E210Q|SPOP_uc002ipg.2_Missense_Mutation_p.E210Q NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein 210 BTB. mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 GCCTGGAATTCCTGGCCGGCA 0.453 NaN Prostate(2;0.17) 0 0 0 0.01441 0 77 94 NOG 9241 broad.mit.edu 37 17 54671875 54671875 + Silent SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:54671875C>A uc002iup.2 + 1 816 c.291C>A c.(289-291)GGC>GGA p.G97G NM_005450 NP_005441 Q13253 NOGG_HUMAN noggin precursor 97 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity 0 Breast(9;5.24e-08) CAGCTGGGGGCGCGGAGGACC 0.647 NaN 1 0 0.000274275 0.004482 0.000282846 9 7 C17orf71 55181 broad.mit.edu 37 17 57288781 57288781 + Missense_Mutation SNP G G C rs5821255 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:57288781G>C uc002ixi.2 + 1 1411 c.1369G>C c.(1369-1371)GAG>CAG p.E457Q NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 457 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AAAACTGTATGAGGTGGCTAT 0.438 NaN 0 0 0 0.009718 0 44 64 USP32 84669 broad.mit.edu 37 17 58288867 58288867 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:58288867C>G uc002iyo.1 - 20 2474 c.2188G>C c.(2188-2190)GAA>CAA p.E730Q USP32_uc002iyn.1_Missense_Mutation_p.E400Q NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 730 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GCTCCCTTTTCTGTGGGAACT 0.383 NaN 0 0 0 0.009718 0 39 126 USP32 84669 broad.mit.edu 37 17 58289433 58289433 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:58289433C>G uc002iyo.1 - 19 2417 c.2131G>C c.(2131-2133)GAG>CAG p.E711Q USP32_uc002iyn.1_Missense_Mutation_p.E381Q NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 711 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GACATCTCCTCAGGCCAACTC 0.289 NaN 0 0 0 0.010729 0 10 43 INTS2 57508 broad.mit.edu 37 17 59946642 59946642 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:59946642C>G uc002izn.2 - 22 3230 c.3154G>C c.(3154-3156)GAG>CAG p.E1052Q INTS2_uc002izm.2_Missense_Mutation_p.E1044Q NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1052 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 ACCTGTTTCTCAAGTTCTGGC 0.378 NaN 0 0 0 0.016723 0 14 14 TANC2 26115 broad.mit.edu 37 17 61499280 61499280 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:61499280C>G uc002jal.3 + 25 5960 c.5937C>G c.(5935-5937)ATC>ATG p.I1979M TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.I1090M NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1979 binding ovary(2) 2 CATCCCCTATCAAACCAAAGA 0.498 NaN 0 0 0 0.024334 0 28 40 MFSD11 79157 broad.mit.edu 37 17 74737112 74737112 + Nonsense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:74737112C>T uc002jta.2 + 4 1199 c.226C>T c.(226-228)CAA>TAA p.Q76* MFSD11_uc002jtb.2_Nonsense_Mutation_p.Q76*|MFSD11_uc010dha.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jtc.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jtd.3_Nonsense_Mutation_p.Q76*|MFSD11_uc010dhb.2_Nonsense_Mutation_p.Q76*|MFSD11_uc002jte.2_Nonsense_Mutation_p.Q76* NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 76 Helical; (Potential). integral to membrane ovary(1) 1 TGTAGGACCTCAACTCTCTAT 0.373 NaN 0 0 0 0.01441 0 58 96 RNF213 57674 broad.mit.edu 37 17 78318559 78318559 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:78318559G>A uc002jyh.1 + 4 866 c.643G>A c.(643-645)GAG>AAG p.E215K NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATAGACATGGAGCTGAGTGC 0.488 NaN 0 0 0 0.01441 0 81 125 SLC14A1 6563 broad.mit.edu 37 18 43328388 43328388 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr18:43328388G>C uc010xcn.1 + 10 1313 c.994G>C c.(994-996)GAG>CAG p.E332Q SLC14A1_uc010dnk.2_Missense_Mutation_p.E388Q|SLC14A1_uc002lbf.3_Missense_Mutation_p.E332Q|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.E227Q|SLC14A1_uc002lbh.3_Missense_Mutation_p.E224Q|SLC14A1_uc002lbi.3_Missense_Mutation_p.E200Q|SLC14A1_uc002lbj.3_Missense_Mutation_p.E388Q|SLC14A1_uc002lbk.3_Missense_Mutation_p.E332Q NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 332 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 CTTTATGGCTGAGGTGAGTTT 0.448 NaN 0 0 0 0.014323 0 24 52 SERPINB8 5271 broad.mit.edu 37 18 61647088 61647088 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr18:61647088C>T uc002ljv.2 + 3 391 c.222C>T c.(220-222)CTC>CTT p.L74L SERPINB8_uc002ljs.1_Silent_p.L74L|SERPINB8_uc002ljt.2_Silent_p.L74L|SERPINB8_uc002lju.2_Silent_p.L74L|SERPINB8_uc010xex.1_5'UTR NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 74 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) AGTCACTTCTCAGTGAAGTTA 0.418 NaN OREG0025042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.027894 0 40 71 SOCS6 9306 broad.mit.edu 37 18 67992983 67992983 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr18:67992983C>T uc002lkr.1 + 2 1395 c.1079C>T c.(1078-1080)TCA>TTA p.S360L SOCS6_uc010dqq.2_Missense_Mutation_p.S360L NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 360 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GTTTATGACTCAGTGCAAAGT 0.493 NaN 0 0 0 0.020292 0 15 37 MIDN 90007 broad.mit.edu 37 19 1255046 1255046 + Nonsense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:1255046C>G uc002lrp.2 + 6 1357 c.842C>G c.(841-843)TCA>TGA p.S281* NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 281 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGTCTTCTCAGGGACCTTC 0.637 NaN 0 0 0 0.008871 0 18 65 LRG1 116844 broad.mit.edu 37 19 4538815 4538815 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:4538815C>T uc002mau.2 - 2 192 c.181G>A c.(181-183)GAA>AAA p.E61K PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 61 extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGGATTTCGGCAGGTGGT 0.637 NaN 0 0 0 0.021553 0 6 61 KRI1 65095 broad.mit.edu 37 19 10670361 10670361 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:10670361G>C uc002moy.1 - 11 978 c.969C>G c.(967-969)ATC>ATG p.I323M KRI1_uc002mow.1_Translation_Start_Site|KRI1_uc002mox.1_Missense_Mutation_p.I319M NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 323 Glu-rich. ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CGGAGGACGCGATGCTGCGTG 0.617 NaN 0 0 0 0.00499 0 17 49 NOTCH3 4854 broad.mit.edu 37 19 15281188 15281188 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:15281188G>A uc002nan.2 - 27 5144 c.5068C>T c.(5068-5070)CAC>TAC p.H1690Y NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1690 Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGCCCTTGTGACCAGAGGCC 0.657 NaN 0 0 0 0.024245 0 15 32 NWD1 284434 broad.mit.edu 37 19 16902160 16902160 + Splice_Site SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:16902160G>C uc002neu.3 + 14 3363 c.2941_splice c.e14-1 p.I981_splice NWD1_uc002net.3_Splice_Site_p.I846_splice|NWD1_uc002nev.3_Splice_Site_p.I775_splice Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; ATP binding skin(3)|ovary(2)|pancreas(2) 7 TATTCTATTAGATCAATGCTT 0.483 NaN 0 0 0 0.010818 0 31 69 ZNF430 80264 broad.mit.edu 37 19 21240308 21240308 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:21240308G>C uc002npj.2 + 5 1304 c.1194G>C c.(1192-1194)GAG>GAC p.E398D ZNF430_uc002npk.2_Missense_Mutation_p.E397D NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 ATACTGGAGAGAAATTCTACA 0.353 NaN 0 0 0 0.006214 0 10 46 C19orf40 91442 broad.mit.edu 37 19 33467384 33467384 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:33467384G>A uc002nud.3 + 5 562 c.444G>A c.(442-444)AAG>AAA p.K148K NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa 148 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) TTCTCGGGAAGAAACGGGCCC 0.547 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks OREG0025408 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 29 68 MAP4K1 11184 broad.mit.edu 37 19 39104548 39104548 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:39104548G>A uc002oix.1 - 8 613 c.505C>T c.(505-507)CGC>TGC p.R169C MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.1_Translation_Start_Site NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 169 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AAAGAGAGGCGTCTGGCCAGT 0.627 NaN 0 0 0 0.001984 0 7 16 SUPT5H 6829 broad.mit.edu 37 19 39955605 39955605 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:39955605C>G uc002olo.3 + 11 971 c.792C>G c.(790-792)CTC>CTG p.L264L SUPT5H_uc002olp.3_Silent_p.L264L|SUPT5H_uc002olq.3_Silent_p.L260L|SUPT5H_uc002oln.3_Silent_p.L264L|SUPT5H_uc002olr.3_Silent_p.L264L|SUPT5H_uc002ols.1_5'Flank NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 264 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGACGTGCTCAAAGTGGTGA 0.602 NaN 0 0 0 0.010504 0 22 71 DYRK1B 9149 broad.mit.edu 37 19 40316442 40316442 + Silent SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:40316442T>G uc002omj.2 - 11 2083 c.1803A>C c.(1801-1803)CCA>CCC p.P601P DYRK1B_uc002omi.2_Silent_p.P573P|DYRK1B_uc002omk.2_Silent_p.P561P NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 601 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCGGGAGGGGTGGACGACCTC 0.716 NaN 0 0 0 0.001984 0 5 8 PVR 5817 broad.mit.edu 37 19 45157217 45157217 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:45157217G>A uc002ozm.2 + 4 1072 c.773G>A c.(772-774)GGC>GAC p.G258D PVR_uc010ejs.2_Missense_Mutation_p.G258D|PVR_uc010xxb.1_Missense_Mutation_p.G258D|PVR_uc010xxc.1_Missense_Mutation_p.G258D|PVR_uc002ozn.2_Missense_Mutation_p.G203D NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 258 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) TGGTACCTTGGCCAGAATGAG 0.493 NaN 0 0 0 0.01441 0 88 71 FOSB 2354 broad.mit.edu 37 19 45976195 45976195 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:45976195C>T uc002pbx.3 + 4 1534 c.942C>T c.(940-942)TTC>TTT p.F314F ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.F239F|FOSB_uc002pby.3_Silent_p.F278F|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.F275F|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.F171F|FOSB_uc002pca.3_Silent_p.F265F NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 314 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) TCTCCGCGTTCGCCGGCGCCC 0.577 NaN 0 0 0 0.012319 0 22 66 SLC8A2 6543 broad.mit.edu 37 19 47969393 47969393 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:47969393C>T uc002pgx.2 - 2 546 c.268G>A c.(268-270)GCC>ACC p.A90T SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.A90T NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 90 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) AAACGGTCGGCGATGATGGAC 0.597 NaN 0 0 0 0.010504 0 20 41 FUZ 80199 broad.mit.edu 37 19 50310577 50310577 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:50310577C>G uc002ppq.1 - 11 1193 c.1088G>C c.(1087-1089)AGA>ACA p.R363T FUZ_uc002ppr.1_Missense_Mutation_p.R263T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.R327T|FUZ_uc002ppv.1_Missense_Mutation_p.R313T NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 363 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) GTAGCAAGCTCTGGGCAGCTG 0.607 NaN 0 0 0 0.014758 0 5 25 ETFB 2109 broad.mit.edu 37 19 51857428 51857428 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:51857428G>A uc002pwh.2 - 2 284 c.192C>T c.(190-192)GTC>GTT p.V64V ETFB_uc002pwg.2_Silent_p.V155V NM_001985 NP_001976 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 64 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) GCCCACAGCTGACGGCGATGA 0.428 NaN 0 0 0 0.008291 0 11 26 SIGLEC8 27181 broad.mit.edu 37 19 51957546 51957546 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:51957546G>A uc002pwt.2 - 6 1239 c.1172C>T c.(1171-1173)TCG>TTG p.S391L SIGLEC8_uc010yda.1_Missense_Mutation_p.S282L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.S298L NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 391 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGCCTTGCCGATTTCTTCCT 0.597 NaN 0 0 0 0.010504 0 19 68 ZNF83 55769 broad.mit.edu 37 19 53116563 53116563 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:53116563G>A uc002pzu.3 - 2 2499 c.1255C>T c.(1255-1257)CAT>TAT p.H419Y ZNF83_uc002pzv.3_Missense_Mutation_p.H419Y|ZNF83_uc010eps.2_Missense_Mutation_p.H391Y|ZNF83_uc010ept.2_Missense_Mutation_p.H419Y|ZNF83_uc010epu.2_Missense_Mutation_p.H419Y|ZNF83_uc010epv.2_Missense_Mutation_p.H419Y|ZNF83_uc010epw.2_Missense_Mutation_p.H419Y|ZNF83_uc010epx.2_Missense_Mutation_p.H391Y|ZNF83_uc010epy.2_Missense_Mutation_p.H419Y|ZNF83_uc010epz.2_Missense_Mutation_p.H391Y NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 419 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ATTCTCCAATGATATGCAAGG 0.373 NaN 0 0 0 0.00632 0 28 100 ZNF665 79788 broad.mit.edu 37 19 53678789 53678789 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:53678789G>A uc010eqm.1 - 3 151 c.51C>T c.(49-51)TTC>TTT p.F17F NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 Error:Variant_position_missing_in_Q9H7R5_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) CCTCCTGAGAGAATTCTATGG 0.438 NaN 0 0 0 0.027356 0 26 100 TMC4 147798 broad.mit.edu 37 19 54666454 54666454 + Missense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:54666454T>A uc010erf.2 - 10 1604 c.1472A>T c.(1471-1473)GAT>GTT p.D491V TMC4_uc002qdn.2_Missense_Mutation_p.D205V|TMC4_uc002qdo.2_Missense_Mutation_p.D485V NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 491 Helical; (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGTCAGCAGATCAAAGAGCAG 0.567 NaN 0 0 0 0.010729 0 11 9 USP29 57663 broad.mit.edu 37 19 57642078 57642078 + Missense_Mutation SNP G G A rs143453181 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:57642078G>A uc002qny.2 + 4 2391 c.2035G>A c.(2035-2037)GAG>AAG p.E679K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 679 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGGCTTGTCGAGGTTCATCT 0.468 NaN 0 0 0 0.006214 0 9 50 ZSCAN1 284312 broad.mit.edu 37 19 58549427 58549427 + Nonsense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:58549427G>T uc002qrc.1 + 3 470 c.223G>T c.(223-225)GAG>TAG p.E75* ZSCAN1_uc002qra.1_Nonsense_Mutation_p.E75*|ZSCAN1_uc002qrb.1_Nonsense_Mutation_p.E75* NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 75 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCGCTCCAAGGAGCAGATGCT 0.706 NaN 1 0 0.00116845 0.021553 0.00119008 5 19 ZBTB45 84878 broad.mit.edu 37 19 59028629 59028629 + Missense_Mutation SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:59028629T>G uc002qtd.2 - 2 704 c.412A>C c.(412-414)ACC>CCC p.T138P ZBTB45_uc002qte.2_Missense_Mutation_p.T138P|ZBTB45_uc002qtf.2_Missense_Mutation_p.T138P NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 138 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GGCACAGGGGTGGGCAGGGGC 0.716 NaN OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 6 3 TRIM28 10155 broad.mit.edu 37 19 59057194 59057194 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr19:59057194C>T uc002qtg.1 + 3 806 c.517C>T c.(517-519)CTG>TTG p.L173L TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 173 RBCC domain.|B box-type 1; atypical. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CTCGGAGCCTCTGTGTGAGAC 0.572 NaN 0 0 0 0.016723 0 13 36 OTOF 9381 broad.mit.edu 37 2 26739408 26739408 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:26739408G>A uc002rhk.2 - 5 514 c.387C>T c.(385-387)GAC>GAT p.D129D OTOF_uc010ylb.1_RNA NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 129 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTCCCCATCGTCCCAGGAGC 0.647 NaN 0 0 0 0.009096 0 4 50 CCDC121 79635 broad.mit.edu 37 2 27850502 27850502 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:27850502C>T uc002rle.2 - 2 346 c.165G>A c.(163-165)GAG>GAA p.E55E ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Silent_p.E219E|CCDC121_uc002rld.2_Silent_p.E217E|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank NM_024584 NP_078860 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 isoform 3 55 0 Acute lymphoblastic leukemia(172;0.155) TCCATACCTTCTCAGGTTGCT 0.408 NaN 0 0 0 0.01441 0 64 110 PPP1CB 5500 broad.mit.edu 37 2 29001877 29001877 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:29001877C>G uc002rmg.2 + 4 547 c.387C>G c.(385-387)ATC>ATG p.I129M PPP1CB_uc010ymj.1_Missense_Mutation_p.I101M|PPP1CB_uc010ymk.1_Missense_Mutation_p.I101M|PPP1CB_uc010yml.1_Missense_Mutation_p.I101M|PPP1CB_uc002rmh.2_Missense_Mutation_p.I129M NM_206876 NP_996759 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta 129 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155) GTGCTAGCATCAATCGCATTT 0.328 NaN 0 0 0 0.020292 0 15 31 VIT 5212 broad.mit.edu 37 2 36994239 36994239 + Nonsense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:36994239G>T uc002rpl.2 + 7 711 c.490G>T c.(490-492)GAG>TAG p.E164* VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Nonsense_Mutation_p.E157*|VIT_uc010ezv.2_Nonsense_Mutation_p.E157*|VIT_uc010ezw.2_Nonsense_Mutation_p.E157* NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 164 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) TCTTACAGGTGAGACCACAAA 0.448 NaN 1 0 1.05317e-09 0.020292 1.11751e-09 13 12 LHCGR 3973 broad.mit.edu 37 2 48915216 48915216 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:48915216G>A uc002rwu.3 - 11 1790 c.1720C>T c.(1720-1722)CTC>TTC p.L574F GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 574 Helical; Name=6; (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTGAAGATGAGGATTGCCATT 0.363 NaN Familial_Male-Limited_Precocious_Puberty 0 0 0 0.025465 0 41 64 NRXN1 9378 broad.mit.edu 37 2 50724724 50724724 + Nonsense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:50724724C>A uc010fbq.2 - 14 4223 c.2746G>T c.(2746-2748)GGA>TGA p.G916* NRXN1_uc002rxb.3_Nonsense_Mutation_p.G548*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.G876*|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 239 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATGCCATTCCATTAAATGTC 0.438 NaN 1 0 0.00448238 0.004482 0.00455134 9 28 EFEMP1 2202 broad.mit.edu 37 2 56144869 56144869 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:56144869G>A uc002rzh.2 - 4 778 c.448C>T c.(448-450)CCC>TCC p.P150S EFEMP1_uc002rzi.2_Missense_Mutation_p.P150S|EFEMP1_uc002rzj.2_Missense_Mutation_p.P150S|EFEMP1_uc010ypc.1_Missense_Mutation_p.P92S NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 150 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGGTTGGAGGGAATGCGCTGA 0.527 NaN 0 0 0 0.013114 0 47 55 PLEK 5341 broad.mit.edu 37 2 68607462 68607462 + Silent SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:68607462G>C uc002sen.3 + 2 207 c.45G>C c.(43-45)GGG>GGC p.G15G PLEK_uc010fde.2_Silent_p.G15G NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 15 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CATTACAGGGGAGCGTGTTCA 0.398 NaN 0 0 0 0.004482 0 9 25 ARHGAP25 9938 broad.mit.edu 37 2 69046289 69046289 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:69046289G>C uc002seu.2 + 9 1399 c.1035G>C c.(1033-1035)ATG>ATC p.M345I ARHGAP25_uc010fdg.2_Missense_Mutation_p.M346I|ARHGAP25_uc010yql.1_Missense_Mutation_p.M306I|ARHGAP25_uc002sev.2_Missense_Mutation_p.M339I|ARHGAP25_uc002sew.2_Missense_Mutation_p.M338I|ARHGAP25_uc002sex.2_Missense_Mutation_p.M339I|ARHGAP25_uc002sey.2_Missense_Mutation_p.M72I NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 345 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 TGACTATGATGATCAGAGACC 0.498 NaN 0 0 0 0.01441 0 54 95 SMPD4 55627 broad.mit.edu 37 2 130910919 130910919 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:130910919G>A uc002tqq.1 - 18 2635 c.2115C>T c.(2113-2115)CTC>CTT p.L705L SMPD4_uc002tqo.1_Silent_p.L237L|SMPD4_uc002tqp.1_Silent_p.L444L|SMPD4_uc010yzy.1_Silent_p.L454L|SMPD4_uc010yzz.1_Silent_p.L369L|SMPD4_uc002tqr.1_Silent_p.L676L|SMPD4_uc002tqs.1_Silent_p.L573L|SMPD4_uc002tqt.1_Silent_p.L554L|SMPD4_uc010zaa.1_Silent_p.L563L|SMPD4_uc010zab.1_Silent_p.L603L|SMPD4_uc010zac.1_Silent_p.L446L|SMPD4_uc010zad.1_Silent_p.L341L NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 666 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GCGTAAGGATGAGTCCGTCCT 0.642 NaN 0 0 0 0.013537 0 13 28 RAB3GAP1 22930 broad.mit.edu 37 2 135911282 135911282 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:135911282G>A uc002tuj.2 + 19 2150 c.2125G>A c.(2125-2127)GAA>AAA p.E709K RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E709K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E534K|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 709 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) GGATTATATTGAAGAGGAGGT 0.438 NaN 0 0 0 0.012319 0 22 48 ARL6IP6 151188 broad.mit.edu 37 2 153575496 153575496 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:153575496C>G uc002tyn.2 + 1 1074 c.358C>G c.(358-360)CTT>GTT p.L120V ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank NM_152522 NP_689735 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting 120 Helical; (Potential). integral to membrane 0 CTTCGCCATTCTTCTCGCCTT 0.592 NaN 0 0 0 0.00499 0 15 41 GRB14 2888 broad.mit.edu 37 2 165404308 165404308 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:165404308C>T uc002ucl.2 - 3 884 c.343G>A c.(343-345)GAA>AAA p.E115K GRB14_uc010zcv.1_Missense_Mutation_p.E28K|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 115 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 GTTTCATCTTCACTGTATACT 0.328 NaN 0 0 0 0.004482 0 9 24 RAPGEF4 11069 broad.mit.edu 37 2 173891911 173891911 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:173891911G>A uc002uhv.3 + 25 2669 c.2482G>A c.(2482-2484)GTC>ATC p.V828I RAPGEF4_uc002uhw.3_Missense_Mutation_p.V684I NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 828 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) GTTTTGGGTCGTCACTGAGAT 0.368 NaN 0 0 0 0.006122 0 18 37 TTN 7273 broad.mit.edu 37 2 179455032 179455032 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:179455032G>A uc010zfg.1 - 253 53940 c.53716C>T c.(53716-53718)CCA>TCA p.P17906S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P11601S|TTN_uc010zfi.1_Missense_Mutation_p.P11534S|TTN_uc010zfj.1_Missense_Mutation_p.P11409S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18833 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) TCTACTTCTGGAGGATGAAGG 0.428 NaN 0 0 0 0.00632 0 29 62 NCKAP1 10787 broad.mit.edu 37 2 183800087 183800087 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:183800087C>G uc002upc.2 - 25 3114 c.2712G>C c.(2710-2712)TTG>TTC p.L904F NCKAP1_uc002upb.2_Missense_Mutation_p.L910F NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 904 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCATCCTCTTCAAGACACTGT 0.328 NaN 0 0 0 0.012319 0 22 31 ZNF804A 91752 broad.mit.edu 37 2 185803013 185803013 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:185803013T>C uc002uph.2 + 4 3484 c.2890T>C c.(2890-2892)TCA>CCA p.S964P NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 964 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTTTAGACAGTCACAGCCTAA 0.393 NaN 0 0 0 0.021523 0 26 65 PLCL1 5334 broad.mit.edu 37 2 198948687 198948687 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:198948687C>T uc010fsp.2 + 2 737 c.446C>T c.(445-447)TCA>TTA p.S149L PLCL1_uc002uuv.3_Missense_Mutation_p.S70L NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 149 PH.|Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TGGGAACCTTCAAAGAAAGAC 0.448 NaN 0 0 0 0.008871 0 19 40 FAM126B 285172 broad.mit.edu 37 2 201873710 201873710 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr2:201873710G>A uc002uws.3 - 7 704 c.516C>T c.(514-516)TTC>TTT p.F172F FAM126B_uc002uwu.2_Silent_p.F90F|FAM126B_uc002uwv.2_Silent_p.F172F|FAM126B_uc002uww.1_Silent_p.F172F NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 172 intracellular ovary(1) 1 TCTGTGCAGTGAATGTTTCCC 0.299 NaN 0 0 0 0.020292 0 14 29 PANK2 80025 broad.mit.edu 37 20 3888748 3888748 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr20:3888748C>T uc002wkc.2 + 2 810 c.804C>T c.(802-804)CTC>CTT p.L268L PANK2_uc002wkb.2_5'UTR|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'UTR|PANK2_uc002wkf.2_5'UTR NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein 268 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 ACGTGCACCTCGAGCTGAAGG 0.478 NaN 0 0 0 0.016723 0 14 59 C20orf94 128710 broad.mit.edu 37 20 10603663 10603663 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr20:10603663G>A uc010zre.1 + 8 1043 c.863G>A c.(862-864)CGA>CAA p.R288Q NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 288 protein binding 0 CAAAGTCCACGAGTGGCCAAA 0.527 NaN 0 0 0 0.016522 0 22 46 TTC3 7267 broad.mit.edu 37 21 38510991 38510991 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr21:38510991C>G uc002yvz.2 + 19 1741 c.1636C>G c.(1636-1638)CTC>GTC p.L546V TTC3_uc011aee.1_Missense_Mutation_p.L236V|TTC3_uc002ywa.2_Missense_Mutation_p.L546V|TTC3_uc002ywb.2_Missense_Mutation_p.L546V|TTC3_uc010gnf.2_Missense_Mutation_p.L311V|TTC3_uc002ywc.2_Missense_Mutation_p.L236V|TTC3_uc011aed.1_Missense_Mutation_p.L236V|TTC3_uc010gne.1_Missense_Mutation_p.L546V NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 546 TPR 3. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TGCCATTTCTCTCCTTGGAAT 0.308 NaN 0 0 0 0.012213 0 31 64 UMODL1 89766 broad.mit.edu 37 21 43541202 43541202 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr21:43541202G>A uc002zaf.1 + 16 2695 c.2695G>A c.(2695-2697)GAT>AAT p.D899N UMODL1_uc002zad.1_Missense_Mutation_p.D827N|UMODL1_uc002zae.1_Missense_Mutation_p.D955N|UMODL1_uc002zag.1_Missense_Mutation_p.D1027N|UMODL1_uc002zal.1_5'UTR NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 899 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGCAGATTACGATGAGTGTGA 0.537 NaN 0 0 0 0.010504 0 21 61 COL18A1 80781 broad.mit.edu 37 21 46888254 46888254 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr21:46888254G>A uc011afs.1 + 2 1471 c.1450G>A c.(1450-1452)GTC>ATC p.V484I COL18A1_uc002zhg.2_Missense_Mutation_p.V69I|COL18A1_uc002zhi.2_Missense_Mutation_p.V249I NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 484 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCTGGCCTACGTCTTTGGGCC 0.657 NaN 0 0 0 0.013726 0 32 53 ARVCF 421 broad.mit.edu 37 22 19960296 19960296 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:19960296C>T uc002zqz.2 - 16 2876 c.2605G>A c.(2605-2607)GAT>AAT p.D869N ARVCF_uc002zqy.2_Missense_Mutation_p.D385N NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 869 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) GTGCTGTCATCGAAGCCCCCA 0.602 NaN 0 0 0 0.004482 0 9 26 TRMT2A 27037 broad.mit.edu 37 22 20100722 20100722 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:20100722C>T uc002zrk.1 - 11 1683 c.1468G>A c.(1468-1470)GAG>AAG p.E490K TRMT2A_uc002zrl.1_Missense_Mutation_p.E490K|TRMT2A_uc002zrm.1_Missense_Mutation_p.E312K|TRMT2A_uc002zrn.1_Missense_Mutation_p.E508K NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 490 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 ACCAGGTCCTCGGCCCTCCCG 0.647 NaN 0 0 0 0.007413 0 19 21 RTDR1 27156 broad.mit.edu 37 22 23406202 23406202 + Silent SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:23406202G>T uc002zwt.2 - 5 689 c.531C>A c.(529-531)CTC>CTA p.L177L NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 177 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CCTGCAGGCAGAGGACCAGTG 0.582 NaN 1 0 2.0095e-06 0.001984 2.09191e-06 7 16 DNAL4 10126 broad.mit.edu 37 22 39178724 39178724 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:39178724C>G uc003awj.2 - 2 241 c.13G>C c.(13-15)GAA>CAA p.E5Q SUN2_uc010gxr.1_Intron NM_005740 NP_005731 O96015 DNAL4_HUMAN dynein light chain 4, axonemal 5 microtubule-based movement|nerve growth factor receptor signaling pathway axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane ATPase activity, coupled|microtubule motor activity 0 Melanoma(58;0.04) TTCTTCCCTTCTGTTTCTCCC 0.572 NaN 0 0 0 0.006214 0 10 30 FAM118A 55007 broad.mit.edu 37 22 45728377 45728377 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:45728377G>T uc003bfz.3 + 7 1339 c.723G>T c.(721-723)CAG>CAT p.Q241H FAM118A_uc003bga.3_Missense_Mutation_p.Q241H|FAM118A_uc011aqr.1_Missense_Mutation_p.Q59H NM_001104595 NP_001098065 Q9NWS6 F118A_HUMAN hypothetical protein LOC55007 241 integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTCGTGATCAGATATTCCAGG 0.463 NaN 1 0 3.78316e-11 0.025465 4.04027e-11 42 67 BRD1 23774 broad.mit.edu 37 22 50187866 50187866 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:50187866G>A uc003biv.2 - 6 2662 c.2175C>T c.(2173-2175)CTC>CTT p.L725L BRD1_uc011arf.1_Silent_p.L320L|BRD1_uc011arg.1_Silent_p.L774L|BRD1_uc011arh.1_Silent_p.L725L|BRD1_uc003biu.3_Silent_p.L725L NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 725 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGTGAGGTCGAGCATGTCCA 0.597 NaN 0 0 0 0.006122 0 17 32 PLXNB2 23654 broad.mit.edu 37 22 50727555 50727555 + Missense_Mutation SNP A A G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr22:50727555A>G uc003bkv.3 - 4 1191 c.1085T>C c.(1084-1086)TTC>TCC p.F362S NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 362 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCACATGGGAAGCTCTTGCT 0.687 NaN 0 0 0 0.004672 0 3 10 GRM7 2917 broad.mit.edu 37 3 7503406 7503406 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:7503406C>G uc003bqm.2 + 7 1786 c.1512C>G c.(1510-1512)CTC>CTG p.L504L GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.L504L|GRM7_uc003bql.2_Silent_p.L504L|GRM7_uc003bqn.1_Silent_p.L87L|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 504 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) AACTTCAGCTCAATGTGAGTT 0.443 NaN 0 0 0 0.008871 0 19 75 C3orf20 84077 broad.mit.edu 37 3 14745900 14745900 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:14745900G>A uc003byy.2 + 7 1339 c.935G>A c.(934-936)CGA>CAA p.R312Q C3orf20_uc003byz.2_Missense_Mutation_p.R190Q|C3orf20_uc003bza.2_Missense_Mutation_p.R190Q|C3orf20_uc003byx.1_Intron NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 312 cytoplasm|integral to membrane ovary(3)|skin(1) 4 ATGATCTTACGAAACTACAAG 0.493 NaN 0 0 0 0.024334 0 27 76 TRIM71 131405 broad.mit.edu 37 3 32933231 32933231 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:32933231C>T uc003cff.2 + 4 2598 c.2535C>T c.(2533-2535)TCC>TCT p.S845S NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 845 NHL 6. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 ACCGCCCTTCCGGCATCGCCA 0.527 NaN 0 0 0 0.008361 0 29 121 FBXL2 25827 broad.mit.edu 37 3 33416785 33416785 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:33416785C>T uc003cfp.2 + 10 734 c.663C>T c.(661-663)ATC>ATT p.I221I FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Silent_p.I116I|FBXL2_uc011axp.1_Silent_p.I137I|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 221 LRR 7. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity large_intestine(1) 1 CTCAGCGTATCACGGATGAAG 0.512 NaN 0 0 0 0.01441 0 48 35 EPM2AIP1 9852 broad.mit.edu 37 3 37033161 37033161 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:37033161C>G uc003cgk.2 - 1 1635 c.1408G>C c.(1408-1410)GAA>CAA p.E470Q MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 470 endoplasmic reticulum 0 CTCTCAAATTCTTTTTGGAGA 0.328 NaN 0 0 0 0.006214 0 10 38 IMPDH2 3615 broad.mit.edu 37 3 49062587 49062587 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:49062587C>T uc003cvt.2 - 10 1214 c.1122G>A c.(1120-1122)GCG>GCA p.A374A NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 374 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCAAGGCTTTCGCAATATGAC 0.577 NaN 0 0 0 0.00632 0 30 23 OR5H2 79310 broad.mit.edu 37 3 98002110 98002110 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:98002110C>T uc003dsj.1 + 1 379 c.379C>T c.(379-381)CGC>TGC p.R127C NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 GGCATATGATCGCTATGTAGC 0.378 NaN 0 0 0 0.007291 0 31 99 BTLA 151888 broad.mit.edu 37 3 112190070 112190070 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:112190070C>G uc003dza.3 - 3 739 c.536G>C c.(535-537)AGA>ACA p.R179T BTLA_uc003dzb.3_Intron NM_181780 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated isoform 1 179 Cytoplasmic (Potential). T cell costimulation receptor activity 0 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) TTGGTGCCTTCTCAGGCAGCA 0.493 NaN 0 0 0 0.024245 0 15 47 GOLGB1 2804 broad.mit.edu 37 3 121396236 121396236 + Missense_Mutation SNP T T C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:121396236T>C uc003eei.3 - 16 9046 c.8920A>G c.(8920-8922)ATC>GTC p.I2974V GOLGB1_uc010hrc.2_Missense_Mutation_p.I2979V|GOLGB1_uc003eej.3_Missense_Mutation_p.I2940V NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2974 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTATCTGAGATAGCCATAAGG 0.408 NaN 0 0 0 0.020292 0 14 61 PDIA5 10954 broad.mit.edu 37 3 122849434 122849434 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:122849434C>T uc003egc.1 + 11 937 c.881C>T c.(880-882)TCC>TTC p.S294F PDIA5_uc003egd.1_Intron NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor 294 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) AAGGAACACTCCTCTGTCCTC 0.587 NaN 0 0 0 0.01441 0 43 32 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.00499 0 13 20 PLXNA1 5361 broad.mit.edu 37 3 126708282 126708282 + Silent SNP C C T rs146246704 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:126708282C>T uc003ejg.2 + 1 781 c.777C>T c.(775-777)ATC>ATT p.I259I NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 282 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CGTCCAAGATCGTGCGGCTCT 0.602 NaN 0 0 0 0.01441 0 50 138 MECOM 2122 broad.mit.edu 37 3 168840502 168840502 + Missense_Mutation SNP T T G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr3:168840502T>G uc003ffi.3 - 5 549 c.280A>C c.(280-282)ATG>CTG p.M94L MECOM_uc010hwk.1_Missense_Mutation_p.M117L|MECOM_uc003ffj.3_Missense_Mutation_p.M158L|MECOM_uc011bpi.1_Missense_Mutation_p.M94L|MECOM_uc003ffn.3_Missense_Mutation_p.M94L|MECOM_uc003ffk.2_Missense_Mutation_p.M94L|MECOM_uc003ffl.2_Missense_Mutation_p.M254L|MECOM_uc011bpj.1_Missense_Mutation_p.M282L|MECOM_uc011bpk.1_Missense_Mutation_p.M84L|MECOM_uc010hwn.2_Missense_Mutation_p.M282L|MECOM_uc003ffm.1_Missense_Mutation_p.M158L NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 94 Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 2. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TGTGACAGCATGTGTTTCTCC 0.373 NaN 0 0 0 0.017118 0 36 27 HTRA3 94031 broad.mit.edu 37 4 8288376 8288376 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:8288376G>A uc003gla.2 + 3 778 c.574G>A c.(574-576)GTG>ATG p.V192M HTRA3_uc003gkz.2_Missense_Mutation_p.V192M NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 192 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 CAATGCCCACGTGGTGTCCAG 0.602 NaN 0 0 0 0.024334 0 28 34 BEND4 389206 broad.mit.edu 37 4 42145579 42145579 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:42145579G>A uc003gwn.2 - 3 1500 c.920C>T c.(919-921)TCA>TTA p.S307L BEND4_uc003gwm.2_Missense_Mutation_p.S307L|BEND4_uc011byy.1_Missense_Mutation_p.S307L NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 307 0 CAGTGTAGATGAAGATGGGTG 0.463 NaN 0 0 0 0.009096 0 4 3 TMEM165 55858 broad.mit.edu 37 4 56284049 56284049 + Nonsense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:56284049T>A uc003hax.2 + 4 956 c.689T>A c.(688-690)TTG>TAG p.L230* TMEM165_uc011bzy.1_Nonsense_Mutation_p.L167* NM_018475 NP_060945 Q9HC07 TM165_HUMAN transmembrane protein 165 230 Helical; (Potential). integral to membrane 0 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) AAAAAGTGGTTGCATTTTATT 0.353 NaN 0 0 0 0.004672 0 3 27 METTL14 57721 broad.mit.edu 37 4 119613186 119613186 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:119613186C>A uc003icf.2 + 5 491 c.375C>A c.(373-375)GAC>GAA p.D125E METTL14_uc003icg.2_Missense_Mutation_p.D87E NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN methyltransferase like 14 125 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity 0 ATTTTGTAGACACTGGACATA 0.353 NaN 1 0 1.96895e-08 0.016522 2.06928e-08 22 59 CLGN 1047 broad.mit.edu 37 4 141310427 141310427 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:141310427C>T uc011chi.1 - 16 2002 c.1784G>A c.(1783-1785)GGA>GAA p.G595E CLGN_uc003iii.2_Missense_Mutation_p.G595E NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 595 Cytoplasmic (Potential). protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) CGGCCCATCTCCAGATCCTGT 0.333 NaN 0 0 0 0.006214 0 10 50 LRBA 987 broad.mit.edu 37 4 151773605 151773605 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:151773605G>A uc010ipj.2 - 23 3731 c.3257C>T c.(3256-3258)TCA>TTA p.S1086L LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.S1086L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1086 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) ATCCTCTTCTGAAGGAGAACT 0.383 NaN 0 0 0 0.013537 0 13 51 SDHA 6389 broad.mit.edu 37 5 224526 224527 + Missense_Mutation DNP GG GG TT TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:224526_224527GG>TT uc003jao.3 + 3 317_318 c.202_203GG>TT c.(202-204)GGC>TTC p.G68F SDHA_uc003jan.2_Missense_Mutation_p.G68F|SDHA_uc011clv.1_Missense_Mutation_p.G68F|SDHA_uc011clw.1_Missense_Mutation_p.G68F|SDHA_uc003jap.3_Missense_Mutation_p.G68F NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 68 FAD (By similarity). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AGTGGTGGTAGGCGCTGGAGGG 0.47 NaN Familial_Paragangliomas 0 0 0 0.004672 0 50 78 TRIO 7204 broad.mit.edu 37 5 14358313 14358313 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:14358313G>A uc003jff.2 + 12 2079 c.2073G>A c.(2071-2073)CAG>CAA p.Q691Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.Q642Q|TRIO_uc003jfh.1_Silent_p.Q340Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 691 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AGGAGCTGCAGAAGGAGCTGC 0.687 NaN 0 0 0 0.00308 0 8 17 BASP1 10409 broad.mit.edu 37 5 17275374 17275374 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:17275374G>A uc003jfx.2 + 2 228 c.49G>A c.(49-51)GAG>AAG p.E17K NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 17 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 TGTGAACGACGAGAAAGCCAA 0.577 NaN 0 0 0 0.00308 0 7 15 C5orf42 65250 broad.mit.edu 37 5 37154070 37154070 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:37154070G>C uc011cpa.1 - 41 8214 c.7983C>G c.(7981-7983)TTC>TTG p.F2661L C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.F1179L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F1754L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2661 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCTGTCCTTTGAATCGGAACT 0.393 NaN 0 0 0 0.012319 0 22 27 MAST4 375449 broad.mit.edu 37 5 66460281 66460281 + Silent SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:66460281C>G uc003jut.1 + 28 4775 c.4707C>G c.(4705-4707)CTC>CTG p.L1569L MAST4_uc003juw.2_Silent_p.L1497L|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1761 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTGTTCCCCTCAAGGCCTTAA 0.607 NaN 0 0 0 0.024245 0 15 35 OCLN 4950 broad.mit.edu 37 5 68805528 68805528 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:68805528C>G uc003jwu.2 + 3 1047 c.611C>G c.(610-612)TCT>TGT p.S204C OCLN_uc003jwv.3_Missense_Mutation_p.S204C NM_002538 NP_002529 occludin 0 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GCTCAGTCTTCTGGATCTCTA 0.403 NaN 0 0 0 0.01441 0 64 115 WDR41 55255 broad.mit.edu 37 5 76732192 76732192 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:76732192C>A uc003kff.1 - 12 1408 c.1121G>T c.(1120-1122)AGA>ATA p.R374I WDR41_uc011csy.1_Missense_Mutation_p.R316I|WDR41_uc011csz.1_Missense_Mutation_p.R319I NM_018268 NP_060738 Q9HAD4 WDR41_HUMAN WD repeat domain 41 374 0 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TTTGCTGACTCTTCCAAATCC 0.353 NaN 1 0 9.16793e-09 0.00499 9.66587e-09 17 36 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:94030836C>A uc003kkr.3 + 21 3076 c.2996C>A c.(2995-2997)ACC>AAC p.T999N ANKRD32_uc003kks.2_Missense_Mutation_p.T363N NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348 NaN 1 0 2.32078e-09 0.024245 2.45468e-09 11 60 TSLP 85480 broad.mit.edu 37 5 110407681 110407681 + Silent SNP C C T rs148498768 byFrequency TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:110407681C>T uc003kpb.2 + 1 292 c.93C>T c.(91-93)TTC>TTT p.F31F TSLP_uc003kpa.2_RNA|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 31 extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CTTACGACTTCACTAACTGTG 0.368 NaN 0 0 0 0.027894 0 40 44 STARD4 134429 broad.mit.edu 37 5 110835670 110835670 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:110835670G>T uc003kph.1 - 6 616 c.532C>A c.(532-534)CGT>AGT p.R178S STARD4_uc010jbw.1_Missense_Mutation_p.R80S|STARD4_uc010jbx.1_Missense_Mutation_p.R80S|STARD4_uc003kpi.1_RNA NM_139164 NP_631903 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain 178 START. lipid transport lipid binding ovary(1) 1 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) ATCATCCCACGCAGATCTGTC 0.413 NaN 1 0 7.92952e-12 0.021523 8.52359e-12 26 43 SNCAIP 9627 broad.mit.edu 37 5 121759024 121759024 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:121759024G>A uc003ksw.1 + 4 798 c.592G>A c.(592-594)GAG>AAG p.E198K SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E198K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E245K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E198K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 198 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGGAAGTTCTGAGAGCTCATC 0.463 NaN 0 0 0 0.012213 0 33 61 FBN2 2201 broad.mit.edu 37 5 127614405 127614405 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:127614405C>G uc003kuu.2 - 57 7706 c.7267G>C c.(7267-7269)GAG>CAG p.E2423Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2423 TB 9. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGGCAAAGCTCGCACTGGTGG 0.493 NaN 0 0 0 0.006122 0 19 46 PCDHB1 29930 broad.mit.edu 37 5 140433360 140433360 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:140433360C>G uc003lik.1 + 1 2382 c.2305C>G c.(2305-2307)CGC>GGC p.R769G NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 769 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGTGAGTTTCGCTTTCTTAA 0.463 NaN 0 0 0 0.007291 0 29 66 PCDHB6 56130 broad.mit.edu 37 5 140530412 140530412 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:140530412G>C uc003lir.2 + 1 574 c.574G>C c.(574-576)GAG>CAG p.E192Q PCDHB6_uc011dah.1_Missense_Mutation_p.E56Q NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 192 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGTTCCCGGAGCTGGTGCT 0.617 NaN 0 0 0 0.00874 0 43 62 GABRG2 2566 broad.mit.edu 37 5 161528316 161528316 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:161528316C>T uc003lyz.3 + 5 982 c.624C>T c.(622-624)TTC>TTT p.F208F GABRG2_uc010jjc.2_Silent_p.F208F|GABRG2_uc003lyy.3_Silent_p.F208F|GABRG2_uc011dej.1_Silent_p.F113F NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 208 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCTTGGAGTTCTCCAGTTGTA 0.363 NaN 0 0 0 0.013537 0 10 11 UNC5A 90249 broad.mit.edu 37 5 176306326 176306326 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:176306326G>C uc003mey.2 + 14 2392 c.2200G>C c.(2200-2202)GAG>CAG p.E734Q NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 734 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGGTTTGCTGAGCTGCTGGC 0.617 NaN 0 0 0 0.024334 0 25 60 FLT4 2324 broad.mit.edu 37 5 180041110 180041110 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr5:180041110C>T uc003mma.3 - 24 3368 c.3289G>A c.(3289-3291)GTG>ATG p.V1097M FLT4_uc003mlz.3_Missense_Mutation_p.V1097M NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1097 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AAGGACCACACGTCACTCTGC 0.622 NaN Congenital_Hereditary_Lymphedema 0 0 0 0.00499 0 15 36 SERPINB6 5269 broad.mit.edu 37 6 2948867 2948867 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:2948867C>T uc003muk.2 - 6 2791 c.796G>A c.(796-798)GAG>AAG p.E266K SERPINB6_uc003mui.2_Missense_Mutation_p.E149K|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.E266K|SERPINB6_uc003mum.2_Missense_Mutation_p.E266K|SERPINB6_uc003mun.2_Missense_Mutation_p.E266K|SERPINB6_uc003muo.2_Missense_Mutation_p.E266K NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 266 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) ACTTCCACCTCCTCTTCATCC 0.517 NaN 0 0 0 0.01441 0 56 122 DSP 1832 broad.mit.edu 37 6 7575714 7575714 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:7575714G>C uc003mxp.1 + 18 2902 c.2623G>C c.(2623-2625)GAC>CAC p.D875H DSP_uc003mxq.1_Missense_Mutation_p.D875H NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 875 Globular 1.|Spectrin 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TAAACAGATCGACTTTAGGTA 0.473 NaN 0 0 0 0.016723 0 13 34 HIST1H1C 3006 broad.mit.edu 37 6 26056108 26056108 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:26056108C>G uc003nfw.2 - 1 592 c.549G>C c.(547-549)AAG>AAC p.K183N NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 183 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 TGGCAGCTTTCTTGGGCTTCG 0.552 NaN 0 0 0 0.007291 0 30 52 TRIM31 11074 broad.mit.edu 37 6 30080495 30080495 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:30080495C>T uc003npg.1 - 2 198 c.88G>A c.(88-90)GAC>AAC p.D30N TRIM31_uc003npi.3_RNA NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN tripartite motif protein 31 30 RING-type. mitochondrion ligase activity|zinc ion binding lung(1) 1 TGCCCACAGTCGATGGTGACA 0.473 NaN 0 0 0 0.024334 0 27 57 VARS2 57176 broad.mit.edu 37 6 30891140 30891140 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:30891140C>A uc003nsc.1 + 24 2956 c.2324C>A c.(2323-2325)TCC>TAC p.S775Y VARS2_uc011dmx.1_Missense_Mutation_p.S775Y|VARS2_uc011dmy.1_Missense_Mutation_p.S635Y|VARS2_uc011dmz.1_Missense_Mutation_p.S805Y|VARS2_uc011dna.1_Missense_Mutation_p.S773Y|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S213Y|VARS2_uc010jsg.1_Missense_Mutation_p.S147Y|VARS2_uc010jsh.1_5'UTR NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 775 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 CTGTCTCCCTCCTCCCCGATG 0.657 NaN 1 0 1.08611e-07 0.010729 1.13783e-07 12 30 DNAH8 1769 broad.mit.edu 37 6 38941567 38941567 + Missense_Mutation SNP G G A rs144808884 byFrequency TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:38941567G>A uc003ooe.1 + 82 12605 c.12005G>A c.(12004-12006)CGA>CAA p.R4002Q DNAH8_uc003oog.1_Missense_Mutation_p.R451Q NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CCCCATGATCGATTTCCAATT 0.393 NaN 0 0 0 0.016723 0 12 24 SLC22A7 10864 broad.mit.edu 37 6 43266487 43266487 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:43266487G>C uc003out.2 + 1 490 c.391G>C c.(391-393)GAG>CAG p.E131Q SLC22A7_uc010jyl.1_Missense_Mutation_p.E131Q|SLC22A7_uc003ous.2_Missense_Mutation_p.E131Q NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 131 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CATTGCAACTGAGGTACTTAA 0.468 NaN 0 0 0 0.010729 0 10 24 GRIK2 2898 broad.mit.edu 37 6 102516372 102516372 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:102516372G>C uc003pqp.3 + 16 2962 c.2713G>C c.(2713-2715)GAA>CAA p.E905Q GRIK2_uc003pqo.3_3'UTR|GRIK2_uc010kcw.2_3'UTR NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 905 Cytoplasmic (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GCCAGGTAAAGAAACCATGGC 0.433 NaN 0 0 0 0.006214 0 9 25 TPD52L1 7164 broad.mit.edu 37 6 125578274 125578274 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:125578274G>A uc003pzu.1 + 6 675 c.456G>A c.(454-456)GAG>GAA p.E152E TPD52L1_uc003pzv.1_Intron|TPD52L1_uc003pzw.1_Intron|TPD52L1_uc003pzy.1_Silent_p.E123E|TPD52L1_uc003pzz.1_Intron NM_003287 NP_003278 Q16890 TPD53_HUMAN tumor protein D52-like 1 isoform 1 152 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) CATTTGAGGAGAGGGTTGAGA 0.443 NaN 0 0 0 0.004482 0 8 23 CCDC28A 25901 broad.mit.edu 37 6 139106381 139106381 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:139106381G>A uc003qie.2 + 4 765 c.610G>A c.(610-612)GAA>AAA p.E204K NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 204 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) ATGTTCCATTGAACAGATGGA 0.393 NaN 0 0 0 0.012213 0 34 42 STX11 8676 broad.mit.edu 37 6 144508056 144508056 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:144508056G>A uc003qks.3 + 2 484 c.292G>A c.(292-294)GAG>AAG p.E98K NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 98 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GGCCCGGGGCGAGGTCATCCA 0.682 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.013537 0 13 15 PPP1R14C 81706 broad.mit.edu 37 6 150535916 150535916 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:150535916G>A uc003qnt.2 + 2 484 c.343G>A c.(343-345)GAT>AAT p.D115N NM_030949 NP_112211 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) 115 regulation of phosphorylation cytoplasm|membrane 0 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) TGACATTGATGATCTTCTTGA 0.413 NaN 0 0 0 0.028581 0 15 53 PARK2 5071 broad.mit.edu 37 6 162622255 162622255 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:162622255C>A uc003qtx.3 - 4 576 c.442G>T c.(442-444)GTG>TTG p.V148L PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.V148L|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.V148L NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 148 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TTGCAATACACATAAAAGCTG 0.458 NaN 1 0 0.000442599 0.006214 0.000453596 9 38 PURB 5814 broad.mit.edu 37 7 44924074 44924074 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:44924074C>T uc003tme.2 - 1 887 c.874G>A c.(874-876)GAG>AAG p.E292K NM_033224 NP_150093 Q96QR8 PURB_HUMAN purine-rich element binding protein B 292 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding 0 CCACGTCGCTCATAAAGCTTA 0.592 NaN 0 0 0 0.024334 0 25 62 ZNF680 340252 broad.mit.edu 37 7 63982867 63982867 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:63982867G>C uc003tta.2 - 4 438 c.265C>G c.(265-267)CAT>GAT p.H89D ZNF680_uc010kzr.2_Missense_Mutation_p.H16D NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) TCAGTGAAATGAGAATATATA 0.289 NaN 0 0 0 0.006214 0 9 14 TMEM120A 83862 broad.mit.edu 37 7 75617241 75617241 + Missense_Mutation SNP T T G rs35558484 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:75617241T>G uc003ued.2 - 9 795 c.691A>C c.(691-693)AGC>CGC p.S231R TMEM120A_uc003uee.2_Missense_Mutation_p.E169A|TMEM120A_uc003ueb.1_Missense_Mutation_p.S17R|TMEM120A_uc003uec.2_Missense_Mutation_p.S135R NM_031925 NP_114131 Q9BXJ8 T120A_HUMAN transmembrane protein 120A 231 Cytoplasmic (Potential). integral to membrane 0 GGACACTCACTCTGGTACATG 0.612 NaN 0 0 0 0.021553 0 5 5 PTPN12 5782 broad.mit.edu 37 7 77200497 77200497 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:77200497C>T uc003ugh.2 + 2 293 c.202C>T c.(202-204)CTG>TTG p.L68L PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_RNA NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 68 Tyrosine-protein phosphatase. soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 CAAGGACATACTGCCATGTAA 0.328 NaN 0 0 0 0.021553 0 6 18 OCM2 4951 broad.mit.edu 37 7 97619396 97619396 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:97619396G>A uc003upc.2 - 1 21 c.21C>T c.(19-21)CTC>CTT p.L7L NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 7 calcium ion binding 0 CATCAGCACTGAGCACGTCCG 0.552 NaN 0 0 0 0.006214 0 8 23 CNTNAP2 26047 broad.mit.edu 37 7 146805319 146805319 + Missense_Mutation SNP G G T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:146805319G>T uc003weu.1 + 5 1147 c.631G>T c.(631-633)GTC>TTC p.V211F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 211 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTGAAAGATGTCATTGCCTT 0.363 NaN HNSCC(39;0.1) 1 0 2.35188e-11 0.006122 2.51987e-11 19 27 CUL1 8454 broad.mit.edu 37 7 148481129 148481129 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:148481129G>A uc010lpg.2 + 11 1784 c.1258G>A c.(1258-1260)GAG>AAG p.E420K CUL1_uc003wey.2_Missense_Mutation_p.E420K|CUL1_uc003wez.2_Missense_Mutation_p.E310K|CUL1_uc003wfa.2_Missense_Mutation_p.E81K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 420 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TAAATCCCCTGAGTTGCTGGC 0.418 NaN 0 0 0 0.006122 0 19 33 ZNF425 155054 broad.mit.edu 37 7 148801438 148801438 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:148801438G>C uc003wfj.2 - 4 1598 c.1525C>G c.(1525-1527)CAG>GAG p.Q509E NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 509 C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGCGACTGCTGAGAAAAGGTC 0.637 NaN 0 0 0 0.004482 0 8 12 ZNF425 155054 broad.mit.edu 37 7 148802519 148802519 + Silent SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:148802519G>C uc003wfj.2 - 4 517 c.444C>G c.(442-444)CTC>CTG p.L148L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 148 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTGTTTCTCGGAGACTTGGAG 0.458 NaN 0 0 0 0.016522 0 24 49 ZNF777 27153 broad.mit.edu 37 7 149152911 149152911 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:149152911G>A uc003wfv.2 - 2 366 c.203C>T c.(202-204)TCT>TTT p.S68F NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CATCCGGCCAGAAGTCTCTTG 0.577 NaN 0 0 0 0.027356 0 28 64 GIMAP7 168537 broad.mit.edu 37 7 150217669 150217669 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:150217669G>C uc003whk.2 + 2 737 c.607G>C c.(607-609)GAT>CAT p.D203H NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 203 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTACTTTTCTGATGACATATA 0.418 NaN 0 0 0 0.006122 0 19 35 WDR60 55112 broad.mit.edu 37 7 158663923 158663923 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr7:158663923G>A uc003woe.3 + 3 318 c.160G>A c.(160-162)GAG>AAG p.E54K NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 54 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TGAACATAAGGAGCCGAGGTG 0.507 NaN 0 0 0 0.004482 0 8 12 MTUS1 57509 broad.mit.edu 37 8 17507472 17507472 + Splice_Site SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:17507472C>T uc003wxv.2 - 13 3859 c.3385_splice c.e13-1 p.K1129_splice MTUS1_uc003wxt.2_Splice_Site_p.K376_splice|MTUS1_uc011kyg.1_Splice_Site_p.K274_splice|MTUS1_uc010lsy.2_Splice_Site|MTUS1_uc003wxw.2_Splice_Site_p.K1075_splice|MTUS1_uc003wxs.2_Splice_Site_p.K295_splice NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GAGGATTTTTCTGGAAAGGAC 0.368 NaN 0 0 0 0.010818 0 33 15 MYST3 7994 broad.mit.edu 37 8 41790517 41790517 + Missense_Mutation SNP C C A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:41790517C>A uc010lxb.2 - 18 5765 c.5221G>T c.(5221-5223)GCC>TCC p.A1741S MYST3_uc010lxc.2_Missense_Mutation_p.A1741S|MYST3_uc003xon.3_Missense_Mutation_p.A1741S NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1741 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TAGCTGCCGGCACCAAAATCC 0.498 NaN 1 0 8.88839e-20 0.010818 9.61695e-20 34 75 STK3 6788 broad.mit.edu 37 8 99468130 99468130 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:99468130C>T uc003yip.2 - 11 1557 c.1416G>A c.(1414-1416)GCG>GCA p.A472A STK3_uc003yio.2_Silent_p.A500A NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 472 SARAH.|Potential. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) GCTGTCTTTTCGCAGTGTATC 0.408 NaN 0 0 0 0.006214 0 9 11 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:102213947A>T uc003yka.2 - 3 438 c.23T>A c.(22-24)ATT>AAT p.I8N ZNF706_uc003ykb.2_Missense_Mutation_p.I8N NM_001042510 NP_001035975 Q9Y5V0 ZN706_HUMAN HSPC038 protein 8 intracellular zinc ion binding ovary(2) 2 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393 NaN 0 0 0 0.020292 0 12 25 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:102213962C>G uc003yka.2 - 3 423 c.8G>C c.(7-9)CGT>CCT p.R3P ZNF706_uc003ykb.2_Missense_Mutation_p.R3P NM_001042510 NP_001035975 Q9Y5V0 ZN706_HUMAN HSPC038 protein 3 intracellular zinc ion binding p.R3P(2) ovary(2) 2 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398 NaN 0 0 0 0.028581 0 8 19 ATAD2 29028 broad.mit.edu 37 8 124371477 124371477 + Nonsense_Mutation SNP T T A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:124371477T>A uc003yqh.3 - 11 1474 c.1366A>T c.(1366-1368)AAA>TAA p.K456* ATAD2_uc011lii.1_Nonsense_Mutation_p.K247*|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Nonsense_Mutation_p.K456* NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGTTGAATTTTAAATTTTTCA 0.323 NaN 0 0 0 0.024334 0 25 41 PLEC 5339 broad.mit.edu 37 8 144993273 144993273 + Silent SNP G G A rs34365303 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr8:144993273G>A uc003zaf.1 - 32 11297 c.11127C>T c.(11125-11127)ATC>ATT p.I3709I PLEC_uc003zab.1_Silent_p.I3572I|PLEC_uc003zac.1_Silent_p.I3576I|PLEC_uc003zad.2_Silent_p.I3572I|PLEC_uc003zae.1_Silent_p.I3540I|PLEC_uc003zag.1_Silent_p.I3550I|PLEC_uc003zah.2_Silent_p.I3558I|PLEC_uc003zaj.2_Silent_p.I3599I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3709 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGGGAATGTCGATCTGTGTCT 0.632 NaN 0 0 0 0.004482 0 7 150 FBXO10 26267 broad.mit.edu 37 9 37537289 37537289 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:37537289C>G uc004aab.2 - 3 1286 c.1237G>C c.(1237-1239)GAG>CAG p.E413Q FBXO10_uc004aac.2_Missense_Mutation_p.E429Q|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 413 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) TTCTGCAGCTCCTGCTGCAGT 0.627 NaN 0 0 0 0.006214 0 10 1 NTRK2 4915 broad.mit.edu 37 9 87482169 87482169 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:87482169G>A uc004aoa.1 + 15 2346 c.1408G>A c.(1408-1410)GTT>ATT p.V470I NTRK2_uc004any.1_Missense_Mutation_p.V470I|NTRK2_uc004anz.1_Missense_Mutation_p.V486I|NTRK2_uc011lsz.1_Missense_Mutation_p.V486I|NTRK2_uc011lta.1_Missense_Mutation_p.V470I|NTRK2_uc004aoc.2_Missense_Mutation_p.V21I NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 470 Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 CCCAGCCTCCGTTATCAGCAA 0.343 NaN TSP Lung(25;0.17) 0 0 0 0.016522 0 24 43 ZCCHC6 79670 broad.mit.edu 37 9 88938224 88938224 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:88938224C>G uc004aoq.2 - 13 2656 c.2441G>C c.(2440-2442)GGA>GCA p.G814A ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.G691A|ZCCHC6_uc004aou.2_Missense_Mutation_p.G814A NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 814 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TGTACTTTCTCCATCAAGATC 0.423 NaN 0 0 0 0.007291 0 28 62 FAM75C1 441452 broad.mit.edu 37 9 90537046 90537046 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:90537046C>G uc010mqi.2 + 4 2253 c.2224C>G c.(2224-2226)CCT>GCT p.P742A FAM75C1_uc004apq.3_Missense_Mutation_p.P725A NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GGCCTCCTCACCTGCATGTAA 0.577 NaN 0 0 0 0.00499 0 16 39 NR4A3 8013 broad.mit.edu 37 9 102590462 102590462 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:102590462G>A uc004baf.1 + 3 867 c.138G>A c.(136-138)GAG>GAA p.E46E NR4A3_uc004bae.2_Silent_p.E46E|NR4A3_uc004bag.1_Silent_p.E46E|NR4A3_uc004bai.2_Silent_p.E57E NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 46 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCAGCACTGAGATCACGGCTA 0.562 NaN T EWSR1 extraskeletal myxoid chondrosarcoma 0 0 0 0.012319 0 19 39 FKBP15 23307 broad.mit.edu 37 9 115931520 115931520 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:115931520G>A uc004bgs.2 - 26 3587 c.3469C>T c.(3469-3471)CAT>TAT p.H1157Y FKBP15_uc004bgr.2_Missense_Mutation_p.H594Y|FKBP15_uc011lxc.1_Missense_Mutation_p.H738Y|FKBP15_uc011lxd.1_Missense_Mutation_p.H1089Y NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1157 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 CGCTGGGAATGATGGCTGGGT 0.542 NaN 0 0 0 0.013537 0 13 15 TRIM32 22954 broad.mit.edu 37 9 119461874 119461874 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:119461874G>A uc004bjx.2 + 2 2011 c.1853G>A c.(1852-1854)TGT>TAT p.C618Y ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.C618Y NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 618 NHL 5. fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 GGACTTACCTGTCCGGTGGGC 0.507 NaN Bardet-Biedl_syndrome 0 0 0 0.006122 0 18 38 WDR34 89891 broad.mit.edu 37 9 131396647 131396647 + Silent SNP G G A rs146817584 TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:131396647G>A uc004bvq.1 - 8 1354 c.1230C>T c.(1228-1230)AGC>AGT p.S410S WDR34_uc004bvs.1_Silent_p.S401S|WDR34_uc004bvr.1_Silent_p.S382S NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 410 WD 3. cytoplasm central_nervous_system(2)|skin(1) 3 CAGTCCCAGCGCTCAGGAAGA 0.627 NaN 0 0 0 0.020292 0 15 34 NUP188 23511 broad.mit.edu 37 9 131768567 131768567 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:131768567C>G uc004bws.1 + 43 5015 c.4993C>G c.(4993-4995)CAG>GAG p.Q1665E NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1665 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GCTCATCTCTCAGGCGATGCG 0.572 NaN OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013726 0 35 81 GRIN1 2902 broad.mit.edu 37 9 140057342 140057342 + Missense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:140057342G>C uc004clk.2 + 15 2388 c.2058G>C c.(2056-2058)CAG>CAC p.Q686H GRIN1_uc004cli.1_Missense_Mutation_p.Q361H|GRIN1_uc004clj.1_Missense_Mutation_p.Q683H|GRIN1_uc004cll.2_Missense_Mutation_p.Q686H|GRIN1_uc004clm.2_Missense_Mutation_p.Q686H|GRIN1_uc004cln.2_Missense_Mutation_p.Q704H|GRIN1_uc004clo.2_Missense_Mutation_p.Q704H NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 686 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGGTGAAGCAGAGCTCCGTGG 0.637 NaN 0 0 0 0.004672 0 3 5 EHMT1 79813 broad.mit.edu 37 9 140695358 140695358 + Silent SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:140695358C>T uc011mfc.1 + 18 2671 c.2634C>T c.(2632-2634)ATC>ATT p.I878I NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 878 ANK 5. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CACCCATGATCTGGGCCACAG 0.587 NaN 0 0 0 0.009096 0 4 21 MXRA5 25878 broad.mit.edu 37 X 3238723 3238723 + Nonsense_Mutation SNP G G C TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:3238723G>C uc004crg.3 - 5 5160 c.5003C>G c.(5002-5004)TCA>TGA p.S1668* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1668 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGTTGTACTTGATAATCTTGG 0.438 NaN 0 0 0 0.01441 0 150 35 UBA1 7317 broad.mit.edu 37 X 47062396 47062396 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:47062396G>A uc004dhj.3 + 12 1439 c.1288G>A c.(1288-1290)GAG>AAG p.E430K UBA1_uc004dhk.3_Missense_Mutation_p.E430K|INE1_uc004dhl.2_5'Flank NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 430 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 TGATGCCCTTGAGTGTCTCCC 0.582 NaN 0 0 0 0.027894 0 39 5 KCND1 3750 broad.mit.edu 37 X 48825780 48825780 + Missense_Mutation SNP A A G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:48825780A>G uc004dlx.1 - 1 2472 c.899T>C c.(898-900)TTT>TCT p.F300S KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 300 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 GAAGATGCGAAACACCCGGAA 0.552 NaN 0 0 0 0.008291 0 10 15 TRO 7216 broad.mit.edu 37 X 54955643 54955643 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:54955643C>G uc004dtq.2 + 12 2593 c.2486C>G c.(2485-2487)TCT>TGT p.S829C 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.S360C|TRO_uc004dtw.2_Missense_Mutation_p.S432C|TRO_uc004dtx.2_Missense_Mutation_p.S212C NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 829 6; approximate.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GGAGTCAGCTCTAGTTTTAGT 0.547 NaN 0 0 0 0.023175 0 41 6 RPS4X 6191 broad.mit.edu 37 X 71493144 71493144 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:71493144C>T uc004ear.2 - 6 724 c.628G>A c.(628-630)GTG>ATG p.V210M NM_001007 NP_000998 P62701 RS4X_HUMAN ribosomal protein S4, X-linked X isoform 210 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 Renal(35;0.156) GCATCTTTCACGTGAACCACG 0.463 NaN 0 0 0 0.015359 0 34 3 KIAA1210 57481 broad.mit.edu 37 X 118228014 118228014 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chrX:118228014C>G uc004era.3 - 9 1312 c.1312G>C c.(1312-1314)GAG>CAG p.E438Q NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 438 ovary(4)|skin(1) 5 AGGGATCCCTCTAAAATACCC 0.483 NaN 0 0 0 0.008361 0 32 5 ELF3 1999 broad.mit.edu 37 1 201980282 201980282 + Frame_Shift_Del DEL G G - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 G - G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:201980282delG uc001gxg.3 + 1 3210 c.18delG c.(16-18)GAGfs p.E6fs ELF3_uc001gxi.3_Frame_Shift_Del_p.E6fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.E6fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 6 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 CAACCTGTGAGATTAGCAACA 0.567 NaN NaN NaN NaN NaN NaN 23 22 --- --- OR2T3 343173 broad.mit.edu 37 1 248637607 248637607 + Frame_Shift_Del DEL A A - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr1:248637607delA uc001iel.1 + 1 956 c.956delA c.(955-957)TAGfs p.*319fs NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 319 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) CAAGAAAAGTAGTAAAGGGCA 0.502 NaN NaN NaN NaN NaN NaN 38 185 --- --- JUP 3728 broad.mit.edu 37 17 39680110 39680111 + Frame_Shift_Ins INS - - A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr17:39680110_39680111insA uc010wfs.1 - 9 1584_1585 c.1576_1577insT c.(1576-1578)TACfs p.Y526fs KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Frame_Shift_Ins_p.Y363fs NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin Error:Variant_position_missing_in_P14923_after_alignment adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GAGCCGCTGGTACTCCTGATTC 0.589 NaN NaN NaN NaN NaN NaN 13 61 --- --- FAT1 2195 broad.mit.edu 37 4 187539870 187539870 + Frame_Shift_Del DEL C C - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr4:187539870delC uc003izf.2 - 10 8058 c.7870delG c.(7870-7872)GATfs p.D2624fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2624 Extracellular (Potential).|Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAGCCCTCATCGGCATCACTT 0.443 NaN HNSCC(5;0.00058) NaN NaN NaN NaN NaN 11 29 --- --- FOXQ1 94234 broad.mit.edu 37 6 1313536 1313537 + Frame_Shift_Ins INS - - A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 - A - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:1313536_1313537insA uc003mtl.3 + 1 862_863 c.597_598insA c.(595-600)AACAGCfs p.N199fs NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 199_200 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TCAACCCCAACAGCGAGTACAC 0.515 NaN NaN NaN NaN NaN NaN 23 7 --- --- MLLT4 4301 broad.mit.edu 37 6 168317781 168317782 + Frame_Shift_Ins INS - - T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr6:168317781_168317782insT uc003qwd.2 + 19 2696_2697 c.2554_2555insT c.(2554-2556)CTTfs p.L852fs MLLT4_uc003qwb.1_Frame_Shift_Ins_p.L837fs|MLLT4_uc003qwc.1_Frame_Shift_Ins_p.L853fs|MLLT4_uc003qwg.1_Frame_Shift_Ins_p.L162fs NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 853 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AACGACTTTGCTTACCATGGAT 0.277 NaN T MLL AL NaN NaN NaN NaN NaN 15 46 --- --- GPR107 57720 broad.mit.edu 37 9 132869776 132869779 + Frame_Shift_Del DEL TCAA TCAA - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:132869776_132869779delTCAA uc004bze.2 + 14 1491_1494 c.1264_1267delTCAA c.(1264-1269)TCAATCfs p.S422fs GPR107_uc004bzb.2_Frame_Shift_Del_p.S233fs|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Frame_Shift_Del_p.S422fs|GPR107_uc004bzd.2_Frame_Shift_Del_p.S422fs|uc004bzf.2_5'Flank NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 422_423 Helical; Name=5; (Potential). integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) TATTTTTAGGTCAATCAGACATTT 0.407 NaN OREG0019542 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 15 11 --- --- LCN15 389812 broad.mit.edu 37 9 139658915 139658915 + Frame_Shift_Del DEL A A - TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2a512bd0-059f-4dcc-846e-fa6dc043c5d1 1dc354e4-2157-4b5e-afb3-5df0822649c7 g.chr9:139658915delA uc004cjd.2 - 1 51 c.26delT c.(25-27)ATCfs p.I9fs NM_203347 NP_976222 Q6UWW0 LCN15_HUMAN lipocalin 15 precursor 9 lipid metabolic process extracellular region binding|transporter activity 0 CAGGGTCAGGATTGCGCCGAG 0.642 NaN NaN NaN NaN NaN NaN 7 7 --- ---