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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut ZBTB48 3104 broad.mit.edu 37 1 6648997 6648997 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:6648997G>C uc009vmc.1 + 11 1915 c.1792G>C c.(1792-1794)GAG>CAG p.E598Q ZBTB48_uc001anx.2_Missense_Mutation_p.E598Q|ZBTB48_uc009vmd.1_Missense_Mutation_p.E598Q|ZBTB48_uc001any.1_Missense_Mutation_p.E236Q NM_005341 NP_005332 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 598 C2H2-type 11. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) GAGGCACATGGAGATCCACGA 0.662 NA 37 112 0 0 0 0 NPPA 4878 broad.mit.edu 37 1 11907385 11907385 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:11907385C>T uc001ati.2 - 2 334 c.235G>A c.(235-237)GAG>AAG p.E79K CLCN6_uc010oav.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oaz.1_Intron|CLCN6_uc010oba.1_Intron NM_006172 NP_006163 P01160 ANF_HUMAN natriuretic peptide precursor A preproprotein 79 cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGCACCTCAGGGAGGGGG 0.617 NA 34 101 0 0 0 0 VPS13D 55187 broad.mit.edu 37 1 12328789 12328789 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:12328789G>A uc001atv.2 + 16 1969 c.1828G>A c.(1828-1830)GAG>AAG p.E610K VPS13D_uc001atw.2_Missense_Mutation_p.E610K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 610 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCCCGTTTTTGAGATGCTGTA 0.468 NA 133 286 0 0 0 0 C1orf172 126695 broad.mit.edu 37 1 27277965 27277965 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:27277965G>A uc001bni.1 - 2 996 c.907C>T c.(907-909)CGC>TGC p.R303C NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 303 large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GTACTAATGCGAATGATGCCG 0.607 NA 25 48 0 0 0 0 DNAJC8 22826 broad.mit.edu 37 1 28555483 28555483 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:28555483C>T uc001bpn.2 - 2 163 c.130G>A c.(130-132)GAA>AAA p.E44K DNAJC8_uc001bpo.2_RNA NM_014280 NP_055095 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 44 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) GTCAGTCTTTCAATCTGATTT 0.378 NA 43 111 0 0 0 0 KIF2C 11004 broad.mit.edu 37 1 45218850 45218850 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:45218850G>A uc001cmg.3 + 6 601 c.486G>A c.(484-486)TTG>TTA p.L162L KIF2C_uc010olb.1_Intron|KIF2C_uc010olc.1_Silent_p.L49L|KIF2C_uc001cmh.3_Silent_p.L108L NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 162 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AAATACCATTGAGGATGGTCA 0.547 NA 51 98 0 0 0 0 HS2ST1 9653 broad.mit.edu 37 1 87538628 87538628 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:87538628G>A uc010osk.1 + 2 521 c.136G>A c.(136-138)GCA>ACA p.A46T HS2ST1_uc001dmc.3_Missense_Mutation_p.A46T|LOC339524_uc001dme.1_Missense_Mutation_p.A7T NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 isoform 46 Lumenal (Potential). Golgi membrane|integral to membrane central_nervous_system(1) 1 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) AAGGGCTATTGCAAGACACGA 0.398 NA 14 42 0 0 0 0 GBP2 2634 broad.mit.edu 37 1 89582907 89582907 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:89582907C>T uc001dmz.1 - 6 907 c.636G>A c.(634-636)AAG>AAA p.K212K GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 212 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TTTTACTTTTCTTATCAGTAC 0.358 NA 32 32 0 0 0 0 GBP5 115362 broad.mit.edu 37 1 89730647 89730647 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:89730647G>C uc001dnc.2 - 8 1408 c.871C>G c.(871-873)CTA>GTA p.L291V GBP5_uc001dnd.2_Missense_Mutation_p.L291V|GBP5_uc001dne.1_Missense_Mutation_p.L291V NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 291 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) AGGTTCTTTAGACCTTCATGG 0.418 NA 35 72 0 0 0 0 C1orf59 113802 broad.mit.edu 37 1 109197402 109197402 + Missense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:109197402G>T uc001dvt.3 - 5 572 c.334C>A c.(334-336)CAT>AAT p.H112N C1orf59_uc001dvu.3_Missense_Mutation_p.H112N|C1orf59_uc009wer.2_Missense_Mutation_p.H112N NM_001102592 NP_001096062 Q5T8I9 HENMT_HUMAN hypothetical protein LOC113802 112 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163) ACGGAGCCATGATACAATGTG 0.383 NA 10 62 0.00010058 0.000104806 1 0 MAGI3 260425 broad.mit.edu 37 1 114133210 114133210 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:114133210G>A uc001edk.2 + 5 1049 c.868G>A c.(868-870)GAG>AAG p.E290K MAGI3_uc001edh.3_Missense_Mutation_p.E290K|MAGI3_uc001edi.3_Missense_Mutation_p.E290K|MAGI3_uc010owm.1_Missense_Mutation_p.E290K|MAGI3_uc001edj.2_Missense_Mutation_p.E11K NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 290 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGAGAGATGAGACTCTGGA 0.413 NA 23 112 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114193781 114193781 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:114193781G>A uc001edk.2 + 14 2574 c.2393G>A c.(2392-2394)CGA>CAA p.R798Q MAGI3_uc001edh.3_Missense_Mutation_p.R823Q|MAGI3_uc001edi.3_Missense_Mutation_p.R798Q|MAGI3_uc010owm.1_Missense_Mutation_p.R823Q|MAGI3_uc001edj.2_Missense_Mutation_p.R519Q NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 823 Interaction with BAI1.|PDZ 4. R -> P (in Ref. 2; AAG43837). apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGCTGCTCGAAATGGCCAT 0.433 NA 24 83 0 0 0 0 GATAD2B 57459 broad.mit.edu 37 1 153785835 153785835 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:153785835C>T uc001fdb.3 - 8 1554 c.1310G>A c.(1309-1311)GGT>GAT p.G437D NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 437 GATA-type.|CR2. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TAGAATCTTACCATTCTTTTC 0.468 NA 41 103 0 0 0 0 C1orf104 284618 broad.mit.edu 37 1 155291198 155291198 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:155291198C>T uc001fki.2 - 2 359 c.82G>A c.(82-84)GAA>AAA p.E28K RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN hypothetical protein LOC284618 28 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GAGGTCCATTCTGGGCCCGGA 0.677 NA 6 24 0 0 0 0 DAP3 7818 broad.mit.edu 37 1 155686886 155686886 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:155686886G>A uc001flq.2 + 3 304 c.135G>A c.(133-135)CCG>CCA p.P45P DAP3_uc001flr.2_Silent_p.P45P|DAP3_uc001fls.2_Silent_p.P45P|DAP3_uc010pgl.1_Intron|DAP3_uc001flt.2_Silent_p.P45P|DAP3_uc001flu.2_Silent_p.P45P|DAP3_uc010pgm.1_Silent_p.P45P NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 45 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTGAGAGTCCGAGAGCTATTT 0.423 NA 17 133 0 0 0 0 C1orf92 149499 broad.mit.edu 37 1 156897321 156897321 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:156897321C>T uc001fqm.2 + 7 868 c.696C>T c.(694-696)ATC>ATT p.I232I C1orf92_uc001fql.2_Silent_p.I17I NM_144702 NP_653303 Q8N4P6 LRC71_HUMAN hypothetical protein LOC149499 232 LRR 3. 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACAATAACATCGACGACCGCG 0.627 NA 6 24 0 0 0 0 PEA15 8682 broad.mit.edu 37 1 160183267 160183267 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:160183267G>A uc001fvk.2 + 4 574 c.384G>A c.(382-384)AAG>AAA p.K128K PEA15_uc001fvl.2_Silent_p.K149K|PEA15_uc001fvm.2_Silent_p.K106K NM_003768 NP_003759 Q15121 PEA15_HUMAN phosphoprotein enriched in astrocytes 15 128 Microtubule-binding (Potential). anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import cytoplasm|microtubule associated complex protein binding 0 all_cancers(52;3.11e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCCACCGAAGAAGGCCTGAG 0.577 NA 14 91 0 0 0 0 NCSTN 23385 broad.mit.edu 37 1 160327005 160327005 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:160327005C>T uc001fvx.2 + 16 2093 c.1969C>T c.(1969-1971)CGT>TGT p.R657C NCSTN_uc001fvy.2_Missense_Mutation_p.R637C|NCSTN_uc010pjf.1_Missense_Mutation_p.R519C|NCSTN_uc001fvz.2_Missense_Mutation_p.R437C|NCSTN_uc010pjg.1_Missense_Mutation_p.R399C NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 657 Extracellular (Potential). R -> H (in Ref. 5; AAH47621). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GAAAGATATCCGTGCCCGGAT 0.512 NA 19 43 0 0 0 0 CFHR4 10877 broad.mit.edu 37 1 196871632 196871632 + Missense_Mutation SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:196871632C>A uc001gto.2 + 2 212 c.143C>A c.(142-144)GCA>GAA p.A48E CFHR4_uc009wyy.2_Missense_Mutation_p.A47E|CFHR4_uc001gtp.2_Missense_Mutation_p.A48E NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 48 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 CCAGCAGCTGCAGGACAATCT 0.368 NA 148 91 5.38e-89 5.92e-89 1 0 CRB1 23418 broad.mit.edu 37 1 197404461 197404461 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:197404461C>T uc001gtz.2 + 9 3603 c.3468C>T c.(3466-3468)GAC>GAT p.D1156D CRB1_uc010poz.1_Silent_p.D1132D|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.D1044D|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.D637D|CRB1_uc001gub.1_Silent_p.D805D NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1156 Extracellular (Potential).|EGF-like 15. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ACTGTGAAGACATCTATAGCT 0.443 NA 70 59 0 0 0 0 DDX59 83479 broad.mit.edu 37 1 200619777 200619777 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:200619777G>C uc009wzk.2 - 5 1333 c.1090C>G c.(1090-1092)CAA>GAA p.Q364E DDX59_uc010ppl.1_Missense_Mutation_p.Q364E NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 364 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 ACTTGTTGTTGAAAACCCATC 0.358 NA 16 77 0 0 0 0 GOLT1A 127845 broad.mit.edu 37 1 204170910 204170910 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:204170910G>A uc001has.1 - 3 333 c.147C>T c.(145-147)ATC>ATT p.I49I GOLT1A_uc001hat.1_Silent_p.I49I NM_198447 NP_940849 Q6ZVE7 GOT1A_HUMAN golgi transport 1 homolog A 49 Helical; Name=2; (Potential). protein transport|vesicle-mediated transport Golgi membrane|integral to membrane 0 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) TCAGGCCAATGATGAGGGACA 0.592 NA 35 115 0 0 0 0 NFASC 23114 broad.mit.edu 37 1 204951100 204951100 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:204951100G>A uc001hbj.2 + 21 2750 c.2422G>A c.(2422-2424)GGG>AGG p.G808R NFASC_uc010pra.1_Missense_Mutation_p.G804R|NFASC_uc001hbi.2_Missense_Mutation_p.G804R|NFASC_uc010prb.1_Missense_Mutation_p.G819R|NFASC_uc010prc.1_Missense_Mutation_p.G375R|NFASC_uc001hbk.1_Missense_Mutation_p.G614R|NFASC_uc001hbl.1_Missense_Mutation_p.G58R NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 808 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAATGACTTCGGGAAGGGCCC 0.602 NA 14 28 0 0 0 0 IL19 29949 broad.mit.edu 37 1 207010082 207010082 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:207010082C>T uc001hep.2 + 3 1014 c.75C>T c.(73-75)CTC>CTT p.L25L IL19_uc001heo.2_Silent_p.L63L|IL19_uc010prx.1_Silent_p.L25L NM_013371 NP_037503 Q9UHD0 IL19_HUMAN interleukin 19 isoform 2 precursor 25 apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) ACCACGGTCTCAGGAGATGTC 0.458 NA 43 218 0 0 0 0 INTS7 25896 broad.mit.edu 37 1 212180042 212180042 + Missense_Mutation SNP A A G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:212180042A>G uc001hiw.1 - 7 923 c.818T>C c.(817-819)ATT>ACT p.I273T INTS7_uc009xdb.1_Missense_Mutation_p.I273T|INTS7_uc001hix.1_Missense_Mutation_p.I149T|INTS7_uc001hiy.1_Missense_Mutation_p.I273T|INTS7_uc010pta.1_Missense_Mutation_p.I224T NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 273 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CAGATCTTGAATAGCAAGTCT 0.313 NA 37 111 0 0 0 0 GALNT2 2590 broad.mit.edu 37 1 230386252 230386252 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:230386252G>A uc010pwa.1 + 10 1027 c.955G>A c.(955-957)GAA>AAA p.E319K GALNT2_uc010pvy.1_Missense_Mutation_p.E281K|GALNT2_uc010pvz.1_Intron NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 319 Lumenal (Potential).|Catalytic subdomain B. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GTTCTATTTTGAAGAACTGGG 0.493 NA 19 53 0 0 0 0 NID1 4811 broad.mit.edu 37 1 236180568 236180568 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:236180568C>G uc001hxo.2 - 10 2236 c.2134G>C c.(2134-2136)GAT>CAT p.D712H NID1_uc009xgd.2_Intron NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 712 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GAACATTCATCAATATCTGCA 0.393 NA 47 103 0 0 0 0 OR11L1 391189 broad.mit.edu 37 1 248004499 248004499 + Missense_Mutation SNP G G A rs147783465 byFrequency TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:248004499G>A uc001idn.1 - 1 700 c.700C>T c.(700-702)CGG>TGG p.R234W NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTCTTTCTCCGGCCAGAGGTG 0.502 NA 37 115 0 0 0 0 OR2T2 401992 broad.mit.edu 37 1 248616452 248616452 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:248616452C>T uc001iek.1 + 1 354 c.354C>T c.(352-354)CTC>CTT p.L118L NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTGGGTCTCATGGCCTATG 0.547 NA 19 246 0 0 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24896476 24896476 + Nonsense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:24896476G>C uc001isb.2 - 11 3123 c.2636C>G c.(2635-2637)TCA>TGA p.S879* ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Nonsense_Mutation_p.S879*|ARHGAP21_uc010qdc.1_Nonsense_Mutation_p.S714* NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 878 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 ATATGATTTTGATCTTTCTGT 0.383 NA 44 78 0 0 0 0 OGDHL 55753 broad.mit.edu 37 10 50966434 50966434 + Splice_Site SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:50966434C>A uc001jie.2 - 2 346 c.204_splice c.e2+1 p.K68_splice OGDHL_uc009xog.2_Intron|OGDHL_uc010qgt.1_Splice_Site_p.K68_splice|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGGATGCTGACCTTGTGGACA 0.602 NA 43 70 1.86e-20 2.01e-20 1 0 DKK1 22943 broad.mit.edu 37 10 54074713 54074713 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:54074713G>A uc001jjr.2 + 2 428 c.274G>A c.(274-276)GGC>AGC p.G92S uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 92 DKK-type Cys-1. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 CGAGGAGTGCGGCACTGATGA 0.672 NA OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55582924 55582924 + Missense_Mutation SNP T T A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:55582924T>A uc001jju.1 - 33 4957 c.4562A>T c.(4561-4563)GAC>GTC p.D1521V PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1518V|PCDH15_uc010qhw.1_Missense_Mutation_p.D1481V|PCDH15_uc010qhx.1_Missense_Mutation_p.D1452V|PCDH15_uc010qhy.1_Missense_Mutation_p.D1528V|PCDH15_uc010qhz.1_Missense_Mutation_p.D1523V|PCDH15_uc010qia.1_Missense_Mutation_p.D1501V|PCDH15_uc010qib.1_Missense_Mutation_p.D1498V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1521 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GGCACTTAAGTCATCCTCATC 0.373 NA HNSCC(58;0.16) 4 164 0 0 0 0 DDX50 79009 broad.mit.edu 37 10 70706381 70706381 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:70706381G>C uc001jou.2 + 15 2316 c.2209G>C c.(2209-2211)GAC>CAC p.D737H DDX50_uc010qjc.1_3'UTR NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 737 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 ACGGAGTTTTGACTGAGTATT 0.423 NA 55 74 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108536300 108536300 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:108536300C>T uc001kym.2 - 4 885 c.877G>A c.(877-879)GAC>AAC p.D293N SORCS1_uc001kyl.2_Missense_Mutation_p.D293N|SORCS1_uc009xxs.2_Missense_Mutation_p.D293N|SORCS1_uc001kyn.1_Missense_Mutation_p.D293N|SORCS1_uc001kyo.2_Missense_Mutation_p.D293N NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 293 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACCTTTTGGTCTTGACTGTAT 0.413 NA 7 153 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108536327 108536327 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:108536327C>T uc001kym.2 - 4 858 c.850G>A c.(850-852)GAA>AAA p.E284K SORCS1_uc001kyl.2_Missense_Mutation_p.E284K|SORCS1_uc009xxs.2_Missense_Mutation_p.E284K|SORCS1_uc001kyn.1_Missense_Mutation_p.E284K|SORCS1_uc001kyo.2_Missense_Mutation_p.E284K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 284 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATCCAGTCTTCTTGTTTGGGG 0.413 NA 57 93 0 0 0 0 SMC3 9126 broad.mit.edu 37 10 112362632 112362632 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:112362632C>T uc001kze.2 + 27 3473 c.3347C>T c.(3346-3348)TCA>TTA p.S1116L NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 1116 Ala/Asp-rich (DA-box). cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) CAACAGCTTTCAGGTGGACAG 0.398 NA 29 97 0 0 0 0 GPAM 57678 broad.mit.edu 37 10 113932772 113932772 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr10:113932772G>A uc009xxy.1 - 8 811 c.613C>T c.(613-615)CAA>TAA p.Q205* GPAM_uc001kzp.2_Nonsense_Mutation_p.Q205*|GPAM_uc001kzq.1_Nonsense_Mutation_p.Q205* NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 205 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) TTGTGAATTTGAATGTTCCAA 0.373 NA 25 54 0 0 0 0 TRPM5 29850 broad.mit.edu 37 11 2428395 2428395 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:2428395G>A uc001lwm.3 - 20 3081 c.3072C>T c.(3070-3072)CTC>CTT p.L1024L TRPM5_uc010qxl.1_Silent_p.L1024L|TRPM5_uc009ydn.2_Silent_p.L1026L NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 1024 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) AGACCCGGCGGAGCGTCAGGC 0.662 NA 8 8 0 0 0 0 OR52I1 390037 broad.mit.edu 37 11 4615302 4615302 + Missense_Mutation SNP A A T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:4615302A>T uc010qyi.1 + 1 34 c.34A>T c.(34-36)ACC>TCC p.T12S NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CACAATGGAAACCCCTGCCTC 0.473 NA 14 253 0 0 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111451 7111451 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:7111451G>A uc001mfc.2 + 1 1287 c.1100G>A c.(1099-1101)CGG>CAG p.R367Q NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 367 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCTTACAGCCGGTCAGGCTGC 0.652 NA 7 18 0 0 0 0 OR10A6 390093 broad.mit.edu 37 11 7949483 7949483 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:7949483C>T uc010rbh.1 - 1 727 c.727G>A c.(727-729)GCT>ACT p.A243T NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTGAGGTGAGCGGCACAGGTG 0.453 NA 31 43 0 0 0 0 KIF18A 81930 broad.mit.edu 37 11 28057782 28057782 + Missense_Mutation SNP T T C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:28057782T>C uc001msc.2 - 14 2560 c.2378A>G c.(2377-2379)AAC>AGC p.N793S NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 793 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 AATGTCTTTGTTATCATTTGG 0.318 NA 32 40 0 0 0 0 OR4C3 256144 broad.mit.edu 37 11 48347158 48347158 + Silent SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:48347158G>T uc010rhv.1 + 1 666 c.666G>T c.(664-666)CTG>CTT p.L222L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 195 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCATTGGTCTGCTGGTGGTTG 0.502 NA 36 68 6.85e-11 7.28e-11 1 0 POLD3 10714 broad.mit.edu 37 11 74351802 74351802 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:74351802G>C uc001ovf.1 + 12 1467 c.1392G>C c.(1390-1392)CAG>CAC p.Q464H POLD3_uc009yua.1_Missense_Mutation_p.Q358H NM_006591 NP_006582 Q15054 DPOD3_HUMAN DNA-directed DNA polymerase delta 3 464 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding kidney(2)|ovary(1) 3 Breast(11;3.21e-06) GCTTCTTCCAGAGGAAATAAA 0.468 NA 26 50 0 0 0 0 TRPC6 7225 broad.mit.edu 37 11 101342884 101342884 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:101342884G>A uc001pgk.3 - 8 2614 c.2189C>T c.(2188-2190)TCA>TTA p.S730L TRPC6_uc009ywy.2_Missense_Mutation_p.S614L|TRPC6_uc009ywz.1_Missense_Mutation_p.S675L NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 730 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTCCTGGAATGAACTGTTGAT 0.328 NA 64 111 0 0 0 0 FAM55D 54827 broad.mit.edu 37 11 114453064 114453064 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:114453064G>A uc001ppc.2 - 3 957 c.776C>T c.(775-777)TCT>TTT p.S259F FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 259 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) CTTGTTCTTAGAATACATGTG 0.398 NA 40 56 0 0 0 0 SPATA19 219938 broad.mit.edu 37 11 133712412 133712412 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr11:133712412G>C uc001qgv.1 - 5 456 c.405C>G c.(403-405)ATC>ATG p.I135M NM_174927 NP_777587 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 precursor 135 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane 0 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) GATCTCGCATGATGTCCTCTG 0.498 NA 55 83 0 0 0 0 PRMT8 56341 broad.mit.edu 37 12 3662836 3662836 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:3662836C>G uc001qmf.2 + 4 804 c.437C>G c.(436-438)TCT>TGT p.S146C PRMT8_uc009zed.2_Missense_Mutation_p.S137C|PRMT8_uc009zee.1_RNA NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 146 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) TCCAGTATTTCTGACTACTCA 0.418 NA 44 73 0 0 0 0 NTF3 4908 broad.mit.edu 37 12 5603698 5603698 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:5603698G>A uc001qnl.3 + 1 401 c.318G>A c.(316-318)CTG>CTA p.L106L NTF3_uc001qnk.3_Silent_p.L119L NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 106 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 GGGTCCTGCTGAGCGACAGCA 0.627 NA 14 76 0 0 0 0 CLEC6A 93978 broad.mit.edu 37 12 8618142 8618142 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:8618142G>A uc001qum.1 + 4 403 c.286G>A c.(286-288)GAA>AAA p.E96K NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN dectin-2 96 Extracellular (Potential).|C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1) 1 Lung SC(5;0.184) CATTTCCAGTGAAGAGAAGGT 0.423 NA 53 73 0 0 0 0 STRAP 11171 broad.mit.edu 37 12 16052888 16052888 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:16052888G>C uc001rdc.3 + 8 1180 c.826G>C c.(826-828)GAT>CAT p.D276H STRAP_uc010shw.1_Missense_Mutation_p.D289H|STRAP_uc001rdd.3_Missense_Mutation_p.D182H NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 276 WD 7. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) ATTTAGTCCTGATGGAGAACT 0.393 NA 45 76 0 0 0 0 ARNTL2 56938 broad.mit.edu 37 12 27553552 27553552 + Missense_Mutation SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:27553552C>A uc001rht.1 + 10 1023 c.1005C>A c.(1003-1005)AAC>AAA p.N335K ARNTL2_uc001rhw.2_Missense_Mutation_p.N298K|ARNTL2_uc010sjp.1_Missense_Mutation_p.N298K|ARNTL2_uc001rhu.1_Missense_Mutation_p.N321K|ARNTL2_uc009zji.1_Missense_Mutation_p.N301K|ARNTL2_uc001rhv.1_Missense_Mutation_p.N287K|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 335 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) AAGAAAGGAACAGTAAGAAAG 0.373 NA 3 99 0.004672 0.00479917 1 0 CNTN1 1272 broad.mit.edu 37 12 41386958 41386958 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:41386958G>A uc001rmm.1 + 17 2113 c.2000G>A c.(1999-2001)AGA>AAA p.R667K CNTN1_uc001rmn.1_Missense_Mutation_p.R656K NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 667 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAGGCAGCAAGAGCAGTGGAC 0.383 NA 63 89 0 0 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48137435 48137435 + Missense_Mutation SNP T T G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:48137435T>G uc009zkp.2 - 17 2017 c.1577A>C c.(1576-1578)GAC>GCC p.D526A RAPGEF3_uc001rpw.2_5'Flank|RAPGEF3_uc001rpx.2_5'UTR|RAPGEF3_uc010sln.1_Intron|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.D526A|RAPGEF3_uc001rpz.3_Missense_Mutation_p.D568A NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 526 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CACTGAGTGGTCTGGCCGGCA 0.627 NA 15 26 0 0 0 0 MFSD5 84975 broad.mit.edu 37 12 53647820 53647820 + Silent SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:53647820C>A uc001sci.1 + 2 1392 c.1201C>A c.(1201-1203)CGA>AGA p.R401R MFSD5_uc001sch.1_Silent_p.R508R NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 401 transport integral to membrane skin(2)|ovary(1) 3 TGACAGTGATCGAAAAACAGG 0.547 NA 38 69 3.76e-14 4.03e-14 1 0 ESPL1 9700 broad.mit.edu 37 12 53675381 53675381 + Nonsense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:53675381C>T uc001sck.2 + 13 2681 c.2590C>T c.(2590-2592)CGA>TGA p.R864* ESPL1_uc001scj.2_Nonsense_Mutation_p.R539*|ESPL1_uc010soe.1_Nonsense_Mutation_p.R75* NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 864 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TGATCTGCTTCGAAGTCAACT 0.453 NA 64 100 0 0 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420738 55420738 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:55420738G>C uc001sgp.3 + 2 893 c.515G>C c.(514-516)GGA>GCA p.G172A NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 172 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 CTGGTGGCTGGATGTCTCCAA 0.517 NA 32 55 0 0 0 0 SNRPF 6636 broad.mit.edu 37 12 96254999 96254999 + Silent SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:96254999G>T uc001tej.2 + 2 200 c.57G>T c.(55-57)GTG>GTT p.V19V NM_003095 NP_003086 P62306 RUXF_HUMAN small nuclear ribonucleoprotein polypeptide F 19 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding 0 GAAAGCCAGTGATGGTGAAAC 0.408 NA 42 61 1.47e-15 1.58e-15 1 0 SLC5A8 160728 broad.mit.edu 37 12 101587457 101587457 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:101587457C>T uc001thz.3 - 5 1028 c.638G>A c.(637-639)GGA>GAA p.G213E NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 213 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AGTGCTGATTCCACCTTGCAT 0.398 NA 73 89 0 0 0 0 KDM2B 84678 broad.mit.edu 37 12 121880818 121880818 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:121880818C>T uc001uat.2 - 18 2685 c.2581G>A c.(2581-2583)GAA>AAA p.E861K KDM2B_uc001uaq.2_Missense_Mutation_p.E301K|KDM2B_uc010szy.1_Missense_Mutation_p.E301K|KDM2B_uc001uar.2_Missense_Mutation_p.E452K|KDM2B_uc001uas.2_Missense_Mutation_p.E792K|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.E109K|KDM2B_uc010szx.1_Missense_Mutation_p.E109K|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 861 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 AGCTTATCTTCTTTGCCAGGT 0.592 NA 15 15 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124934366 124934366 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:124934366G>C uc010tba.1 - 7 927 c.810C>G c.(808-810)ATC>ATG p.I270M NCOR2_uc010tay.1_Missense_Mutation_p.I270M|NCOR2_uc010taz.1_Missense_Mutation_p.I270M|NCOR2_uc010tbb.1_Missense_Mutation_p.I270M|NCOR2_uc010tbc.1_Missense_Mutation_p.I270M|NCOR2_uc001ugj.1_Missense_Mutation_p.I270M|NCOR2_uc001ugk.1_Missense_Mutation_p.I270M NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 270 Interaction with SIN3A/B (By similarity). 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) CTCACATTTTGATGTTCTCAT 0.612 NA 17 31 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132551372 132551372 + Silent SNP A A C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:132551372A>C uc001ujn.2 + 48 8642 c.8607A>C c.(8605-8607)GCA>GCC p.A2869A EP400_uc001ujl.2_Silent_p.A2868A|EP400_uc001ujm.2_Silent_p.A2788A|EP400_uc001ujp.2_Silent_p.A79A NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2905 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) AGACCCAGGCACCCCAGCCAG 0.622 NA 8 48 0 0 0 0 NOC4L 79050 broad.mit.edu 37 12 132636125 132636125 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr12:132636125C>T uc001ujz.1 + 12 1211 c.1170C>T c.(1168-1170)TTC>TTT p.F390F NM_024078 NP_076983 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog 390 Helical; (Potential). rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) TCCTGCCTTTCATCTGTAACC 0.721 NA 12 8 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 29008329 29008329 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr13:29008329C>G uc001usb.3 - 5 827 c.542G>C c.(541-543)GGA>GCA p.G181A FLT1_uc010aar.1_Missense_Mutation_p.G181A|FLT1_uc001usc.3_Missense_Mutation_p.G181A|FLT1_uc010tdp.1_Missense_Mutation_p.G181A NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 181 Ig-like C2-type 2.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TATGCGTTTTCCATCAGGGAT 0.428 NA 19 76 0 0 0 0 TM9SF2 9375 broad.mit.edu 37 13 100192968 100192968 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr13:100192968G>C uc001voj.1 + 8 962 c.829G>C c.(829-831)GAA>CAA p.E277Q TM9SF2_uc010afz.1_Missense_Mutation_p.E112Q NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 277 Lumenal (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TCTCCTCTAGGAAGATGATAA 0.388 NA 46 69 0 0 0 0 IRS2 8660 broad.mit.edu 37 13 110438062 110438062 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr13:110438062G>C uc001vqv.2 - 1 853 c.339C>G c.(337-339)ATC>ATG p.I113M NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 113 PH. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TGTAGAGGGCGATCAGGTACT 0.622 NA 7 18 0 0 0 0 COL4A1 1282 broad.mit.edu 37 13 110838797 110838797 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr13:110838797G>A uc001vqw.3 - 26 1954 c.1832C>T c.(1831-1833)GCT>GTT p.A611V COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 611 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AATGGGACCAGCAGGACCATA 0.607 NA 69 75 0 0 0 0 TEP1 7011 broad.mit.edu 37 14 20856088 20856088 + Missense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:20856088G>T uc001vxe.2 - 18 2700 c.2660C>A c.(2659-2661)CCC>CAC p.P887H TEP1_uc010ahk.2_Missense_Mutation_p.P237H|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.P779H NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 887 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGGAGCCAAGGGGCTTGGAGT 0.532 NA 32 71 4.92e-23 5.33e-23 1 0 SUPT16H 11198 broad.mit.edu 37 14 21829239 21829239 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:21829239C>T uc001wao.2 - 16 2266 c.1927G>A c.(1927-1929)GAG>AAG p.E643K SUPT16H_uc001wan.2_5'Flank NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 643 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AGGCTCACCTCCTTCTCTTTC 0.368 NA 60 120 0 0 0 0 TM9SF1 10548 broad.mit.edu 37 14 24663958 24663958 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:24663958C>T uc001wnb.1 - 2 616 c.268G>A c.(268-270)GAG>AAG p.E90K TM9SF1_uc010toa.1_Missense_Mutation_p.E3K|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.E325K|TM9SF1_uc001wnc.2_Missense_Mutation_p.E90K|TM9SF1_uc001wnd.2_5'Flank NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 90 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) TACAAAGACTCAGCCATTCGG 0.507 NA 174 297 0 0 0 0 TINF2 26277 broad.mit.edu 37 14 24710319 24710319 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:24710319G>A uc001woa.3 - 5 853 c.511C>T c.(511-513)CAG>TAG p.Q171* TINF2_uc010alm.2_5'UTR|TINF2_uc001wob.3_Nonsense_Mutation_p.Q171*|TINF2_uc010tof.1_Nonsense_Mutation_p.Q136*|TINF2_uc001woc.3_Intron NM_001099274 NP_001092744 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 171 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|protein binding|telomeric DNA binding 0 GBM - Glioblastoma multiforme(265;0.0185) AGCACATCCTGAAGCTGTGGG 0.542 NA Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis 116 137 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30098292 30098292 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:30098292G>C uc001wqh.2 - 11 1861 c.1680C>G c.(1678-1680)ATC>ATG p.I560M NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 560 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TACTCACAGAGATATCTCCTG 0.313 NA 29 37 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31614087 31614087 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:31614087G>A uc001wrc.1 - 16 3046 c.2557C>T c.(2557-2559)CGT>TGT p.R853C HECTD1_uc001wrd.1_Missense_Mutation_p.R368C NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 853 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) ACTACTCCACGAGGCATGCTT 0.353 NA 23 28 0 0 0 0 SSTR1 6751 broad.mit.edu 37 14 38678915 38678915 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:38678915C>T uc001wul.1 + 3 938 c.321C>T c.(319-321)CTC>CTT p.L107L SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 107 Helical; Name=2; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) ATGAGCTGCTCATGCTCAGCG 0.577 NA 90 163 0 0 0 0 C14orf135 64430 broad.mit.edu 37 14 60591509 60591509 + Missense_Mutation SNP G G A rs112427833 by1000genomes TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:60591509G>A uc001xer.3 + 8 2440 c.1918G>A c.(1918-1920)GAT>AAT p.D640N C14orf135_uc001xeq.2_Missense_Mutation_p.D640N|C14orf135_uc010apm.2_RNA NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 874 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) TCCTGAAAACGATCTTTACAA 0.398 NA 7 206 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79423682 79423682 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:79423682C>T uc001xun.2 + 8 1745 c.1254C>T c.(1252-1254)ACC>ACT p.T418T NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.T543T NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 791 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTAAGTTAACCGTGGATGATG 0.493 NA 24 67 0 0 0 0 SLC24A4 123041 broad.mit.edu 37 14 92949145 92949145 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:92949145C>T uc001yak.2 + 13 1350 c.1326C>T c.(1324-1326)ACC>ACT p.T442T SLC24A4_uc001yai.2_Silent_p.T395T|SLC24A4_uc010twm.1_Silent_p.T440T|SLC24A4_uc001yaj.2_Silent_p.T423T|SLC24A4_uc010auj.2_Silent_p.T331T|SLC24A4_uc010twn.1_Silent_p.T215T|SLC24A4_uc001yan.2_Silent_p.T153T NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 459 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCTTCATCACCGCCACGCTGT 0.522 NA 24 21 0 0 0 0 CYP46A1 10858 broad.mit.edu 37 14 100192929 100192929 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:100192929G>A uc001ygo.2 + 15 1368 c.1368G>A c.(1366-1368)CAG>CAA p.Q456Q CYP46A1_uc001ygp.2_Silent_p.Q293Q NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 456 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) AGCTGCTGCAGAGGCTGGAGT 0.627 NA 3 1 0 0 0 0 JAG2 3714 broad.mit.edu 37 14 105609968 105609968 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr14:105609968C>T uc001yqg.2 - 25 3496 c.3092G>A c.(3091-3093)AGC>AAC p.S1031N JAG2_uc010axf.2_5'UTR|JAG2_uc001yqf.2_Missense_Mutation_p.S435N|JAG2_uc001yqh.2_Missense_Mutation_p.S993N NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 1031 Extracellular (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCTGGCAGGGCTGAAGGACTG 0.682 NA 6 5 0 0 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42285087 42285087 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr15:42285087G>A uc001zow.1 - 12 1231 c.1231C>T c.(1231-1233)CGG>TGG p.R411W PLA2G4E_uc010udc.1_5'UTR|PLA2G4E_uc001zov.1_Missense_Mutation_p.R64W NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 428 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) ACATGTCTCCGAGCCTCAAAG 0.572 NA 12 17 0 0 0 0 ZFP106 64397 broad.mit.edu 37 15 42734335 42734335 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr15:42734335C>T uc001zpw.2 - 7 3965 c.3630G>A c.(3628-3630)GAG>GAA p.E1210E ZFP106_uc001zpu.2_Silent_p.E395E|ZFP106_uc001zpv.2_Silent_p.E395E|ZFP106_uc001zpx.2_Silent_p.E438E NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1210 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) CATTCACATTCTCATCTTGTT 0.463 NA 78 115 0 0 0 0 TLN2 83660 broad.mit.edu 37 15 63125727 63125727 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr15:63125727G>C uc002alb.3 + 52 7027 c.7027G>C c.(7027-7029)GAG>CAG p.E2343Q TLN2_uc002alc.3_Missense_Mutation_p.E736Q|TLN2_uc010uic.1_5'UTR|uc002ale.1_RNA NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2343 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CCTGGACTTTGAGGAACAGAT 0.498 NA 28 111 0 0 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455741 72455741 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr15:72455741G>A uc002atq.2 - 10 846 c.822C>T c.(820-822)TGC>TGT p.C274C GRAMD2_uc010bis.2_Silent_p.C274C|GRAMD2_uc010ukh.1_Silent_p.C68C NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 274 integral to membrane 0 TCTTCTTAGGGCAGGCAGGAC 0.542 NA 68 76 0 0 0 0 SYNM 23336 broad.mit.edu 37 15 99670618 99670618 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr15:99670618G>A uc002bup.2 + 6 2173 c.2053G>A c.(2053-2055)GAA>AAA p.E685K SYNM_uc002buo.2_Missense_Mutation_p.E685K|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 685 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 AACAAAGACTGAAATAGTTGT 0.443 NA 17 20 0 0 0 0 ZNF213 7760 broad.mit.edu 37 16 3190831 3190831 + Missense_Mutation SNP C C T rs113065910 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:3190831C>T uc010uws.1 + 6 1310 c.863C>T c.(862-864)GCG>GTG p.A288V ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.A288V|ZNF213_uc010uwt.1_3'UTR NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 288 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGGCCGAGGGCGGCCCTGGGC 0.746 NA 12 11 0 0 0 0 NPIP 9284 broad.mit.edu 37 16 15045778 15045778 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:15045778C>T uc002dcy.3 + 8 949 c.949C>T c.(949-951)CCA>TCA p.P317S NPIP_uc002dcx.3_RNA NM_006985 NP_008916 Q9UND3 NPIP_HUMAN nuclear pore complex interacting protein 317 Pro-rich. mRNA transport|protein transport|transmembrane transport nuclear membrane|nuclear pore 0 CACTCCCCTTCCACCCTCAGC 0.532 NA 4 63 0 0 0 0 ACSM2A 123876 broad.mit.edu 37 16 20487094 20487094 + Missense_Mutation SNP C C T rs150888398 byFrequency TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:20487094C>T uc010bwe.2 + 9 1336 c.1097C>T c.(1096-1098)ACG>ATG p.T366M ACSM2A_uc010vax.1_Missense_Mutation_p.T287M|ACSM2A_uc002dhf.3_Missense_Mutation_p.T366M|ACSM2A_uc002dhg.3_Missense_Mutation_p.T366M|ACSM2A_uc010vay.1_Missense_Mutation_p.T287M|ACSM2A_uc002dhh.3_Translation_Start_Site NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 366 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CAGACAGAAACGGTACCTGTT 0.473 NA 101 172 0 0 0 0 GGA2 23062 broad.mit.edu 37 16 23491207 23491207 + Silent SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:23491207G>C uc002dlq.2 - 11 1084 c.1008C>G c.(1006-1008)GTC>GTG p.V336V GGA2_uc010bxo.1_RNA NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN ADP-ribosylation factor binding protein 2 336 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.0386) GATTCTGAAAGACTAGAAAGC 0.502 NA 15 22 0 0 0 0 COG4 25839 broad.mit.edu 37 16 70543161 70543161 + Missense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:70543161G>T uc002ezc.2 - 7 986 c.975C>A c.(973-975)TTC>TTA p.F325L COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.F325L|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 321 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TTTGCTTGATGAACTTGTCTA 0.483 NA 45 77 8.21e-20 8.86e-20 1 0 AP1G1 164 broad.mit.edu 37 16 71798596 71798596 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:71798596G>A uc010cgg.2 - 8 1086 c.772C>T c.(772-774)CGA>TGA p.R258* AP1G1_uc002fba.2_Nonsense_Mutation_p.R261*|AP1G1_uc002fbb.2_Nonsense_Mutation_p.R281*|AP1G1_uc010vmg.1_RNA NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 258 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) TCATCATTTCGTCCTAAAATT 0.328 NA 17 38 0 0 0 0 CA5A 763 broad.mit.edu 37 16 87970028 87970028 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr16:87970028G>A uc002fkn.1 - 1 85 c.29C>T c.(28-30)TCA>TTA p.S10L NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 10 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) GGAGAAAGCTGAGGTCTTCCA 0.542 NA 63 82 0 0 0 0 NLGN2 57555 broad.mit.edu 37 17 7320306 7320306 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:7320306G>A uc002ggt.1 + 7 1769 c.1696G>A c.(1696-1698)GAG>AAG p.E566K NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 566 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) CAATCGCTTCGAGGAGGTGGT 0.597 NA 24 21 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8411946 8411946 + Missense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:8411946G>T uc002gll.2 - 24 3143 c.3047C>A c.(3046-3048)GCT>GAT p.A1016D MYH10_uc002glm.2_Missense_Mutation_p.A1047D|MYH10_uc010cnx.2_Missense_Mutation_p.A1025D NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1016 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TTCCTCTTCAGCCAGCTGAGA 0.413 NA 80 119 5.42e-27 5.91e-27 1 0 WDR16 146845 broad.mit.edu 37 17 9532073 9532073 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:9532073C>T uc002gly.2 + 9 1179 c.1110C>T c.(1108-1110)ATC>ATT p.I370I WDR16_uc002glz.2_Silent_p.I302I|WDR16_uc010coc.2_Silent_p.I380I NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 370 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TGCTGCGGATCACCGTGCCCA 0.542 NA 27 40 0 0 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18769186 18769186 + Missense_Mutation SNP A A T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:18769186A>T uc002gup.1 + 3 251 c.40A>T c.(40-42)AAC>TAC p.N14Y PRPSAP2_uc002guo.1_5'UTR|PRPSAP2_uc010vyi.1_Missense_Mutation_p.N2Y|PRPSAP2_uc010vyj.1_5'UTR|PRPSAP2_uc010vyk.1_Missense_Mutation_p.N2Y NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 14 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 AACCAAGATGAACATAACCAA 0.348 NA 16 31 0 0 0 0 TMIGD1 388364 broad.mit.edu 37 17 28644217 28644217 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:28644217G>C uc002hfa.1 - 6 852 c.779C>G c.(778-780)ACA>AGA p.T260R TMIGD1_uc010csh.1_3'UTR NM_206832 NP_996663 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain 260 Cytoplasmic (Potential). integral to membrane 0 TTACAGAGCTGTTTCACTGTG 0.423 NA 31 75 0 0 0 0 KRT38 8687 broad.mit.edu 37 17 39594463 39594463 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:39594463C>T uc002hwq.1 - 6 1546 c.1123G>A c.(1123-1125)GAG>AAG p.E375K NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 375 Coil 2.|Rod. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GCCCGGATCTCAGACAGCTGC 0.612 NA 25 40 0 0 0 0 JUP 3728 broad.mit.edu 37 17 39680030 39680030 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:39680030G>A uc010wfs.1 - 9 1665 c.1657C>T c.(1657-1659)CAC>TAC p.H553Y KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Missense_Mutation_p.H390Y 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) TTGTTGTAGTGATCTTCCTGT 0.582 NA 16 45 0 0 0 0 EFTUD2 9343 broad.mit.edu 37 17 42934459 42934459 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:42934459C>T uc002ihn.2 - 20 2290 c.2029G>A c.(2029-2031)GAA>AAA p.E677K EFTUD2_uc010wje.1_Missense_Mutation_p.E642K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E667K NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 677 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) TTAGGCGTTTCAGCAAAGCAC 0.507 NA 33 46 0 0 0 0 FAM117A 81558 broad.mit.edu 37 17 47797228 47797228 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:47797228G>A uc002ipk.2 - 5 671 c.602C>T c.(601-603)TCC>TTC p.S201F FAM117A_uc010wlz.1_5'UTR NM_030802 NP_110429 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 201 ovary(1) 1 CAAGACAGGGGACCCTGAGGG 0.587 NA 18 27 0 0 0 0 KIF19 124602 broad.mit.edu 37 17 72349698 72349698 + Silent SNP G G A rs146555239 by1000genomes TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:72349698G>A uc002jkm.3 + 17 2424 c.2286G>A c.(2284-2286)TCG>TCA p.S762S NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 762 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGAACCTGTCGGAGATCCCCT 0.592 NA 13 27 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78320969 78320969 + Missense_Mutation SNP G G A rs76918558 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr17:78320969G>A uc002jyh.1 + 4 3276 c.3053G>A c.(3052-3054)CGC>CAC p.R1018H 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) GTGTGTAAGCGCCAGGACAAG 0.532 NA 6 17 0 0 0 0 LAMA3 3909 broad.mit.edu 37 18 21402267 21402267 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr18:21402267C>T uc002kuq.2 + 20 2442 c.2356C>T c.(2356-2358)CGT>TGT p.R786C LAMA3_uc002kur.2_Missense_Mutation_p.R786C NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 786 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCTTGTTTCGTGTTATTCT 0.383 NA 33 59 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31325316 31325316 + Missense_Mutation SNP T T C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr18:31325316T>C uc010dmg.1 + 12 5559 c.5504T>C c.(5503-5505)GTA>GCA p.V1835A ASXL3_uc002kxq.2_Missense_Mutation_p.V1542A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GCTAGGACTGTAGGAGAACAC 0.478 NA 8 272 0 0 0 0 CXXC1 30827 broad.mit.edu 37 18 47812521 47812521 + Silent SNP C C T rs149686544 by1000genomes TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr18:47812521C>T uc002leq.3 - 4 1063 c.330G>A c.(328-330)AAG>AAA p.K110K CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Silent_p.K110K|CXXC1_uc010doy.2_Silent_p.K110K|CXXC1_uc002les.2_Silent_p.K110K NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 110 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GGACAGGCCTCTTGCGCCCTC 0.647 NA 57 87 0 0 0 0 MRO 83876 broad.mit.edu 37 18 48331680 48331680 + Silent SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr18:48331680G>C uc002lew.3 - 5 567 c.273C>G c.(271-273)CTC>CTG p.L91L MRO_uc010xdn.1_Silent_p.L91L|MRO_uc010dpa.2_Silent_p.L105L|MRO_uc010dpb.2_Silent_p.L105L|MRO_uc010dpc.2_Silent_p.L91L|MRO_uc002lex.3_Silent_p.L91L NM_031939 NP_114145 Q9BYG7 MSTRO_HUMAN maestro isoform a 91 nucleolus binding 0 Colorectal(6;0.0596) Colorectal(21;0.082) CCAGCAGGTCGAGGACAATTT 0.463 NA 39 54 0 0 0 0 CDH20 28316 broad.mit.edu 37 18 59221574 59221574 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr18:59221574G>C uc010dps.1 + 11 2064 c.2052G>C c.(2050-2052)TGG>TGC p.W684C CDH20_uc002lif.2_Missense_Mutation_p.W678C NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 684 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) CGGCCATGTGGAACCCCCGGG 0.682 NA 38 63 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72346054 72346054 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr18:72346054C>G uc002llw.2 + 1 3136 c.3079C>G c.(3079-3081)CAC>GAC p.H1027D ZNF407_uc010xfc.1_Missense_Mutation_p.H1027D|ZNF407_uc010dqu.1_Missense_Mutation_p.H1027D|ZNF407_uc002llu.2_Missense_Mutation_p.H1026D NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1027 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GTTTAGTGCTCACTCCTCTGC 0.488 NA 59 92 0 0 0 0 SF3A2 8175 broad.mit.edu 37 19 2247868 2247868 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:2247868G>A uc002lvg.2 + 9 840 c.718G>A c.(718-720)GGT>AGT p.G240S AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank NM_007165 NP_009096 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2 240 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGATGAACGGTCTGCCCCC 0.706 NA 10 40 0 0 0 0 VAV1 7409 broad.mit.edu 37 19 6828659 6828659 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:6828659C>G uc002mfu.1 + 12 1216 c.1119C>G c.(1117-1119)GTC>GTG p.V373V VAV1_uc010xjh.1_Silent_p.V341V|VAV1_uc010dva.1_Silent_p.V373V|VAV1_uc002mfv.1_Silent_p.V318V NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 373 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TGAACGAGGTCAAGCGAGACA 0.637 NA 35 306 0 0 0 0 TIMM44 10469 broad.mit.edu 37 19 7998423 7998423 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:7998423G>A uc002miz.2 - 7 718 c.716C>T c.(715-717)TCC>TTC p.S239F TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 239 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 GTACCACTTGGAGTCCTTGTG 0.647 NA 134 373 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8606807 8606807 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:8606807C>G uc002mkg.2 - 15 1707 c.1593G>C c.(1591-1593)CTG>CTC p.L531L NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 531 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TGGTCTGCATCAGCTCTATGA 0.622 NA 27 78 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8616660 8616660 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:8616660G>A uc002mkg.2 - 8 849 c.735C>T c.(733-735)GAC>GAT p.D245D MYO1F_uc002mkh.2_Silent_p.D245D|MYO1F_uc010xkf.1_3'UTR NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 245 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CGTCCGTGCCGTCCACCTGGT 0.607 NA 49 118 0 0 0 0 OR1M1 125963 broad.mit.edu 37 19 9204176 9204176 + Nonsense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:9204176C>T uc010xkj.1 + 1 256 c.256C>T c.(256-258)CAA>TAA p.Q86* NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 GGTGAGCCTTCAAACCGGGAG 0.537 NA 34 214 0 0 0 0 ACP5 54 broad.mit.edu 37 19 11687634 11687634 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:11687634C>G uc002msg.3 - 3 432 c.286G>C c.(286-288)GAC>CAC p.D96H ACP5_uc002msh.3_Missense_Mutation_p.D96H|ACP5_uc002msi.3_Missense_Mutation_p.D96H|ACP5_uc002msj.3_Missense_Mutation_p.D96H|ACP5_uc010dye.1_3'UTR NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 96 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 AGGGAGCGGTCAGAGAATACG 0.547 NA 36 108 0 0 0 0 CC2D1A 54862 broad.mit.edu 37 19 14040932 14040932 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:14040932G>A uc002mxo.2 + 27 3051 c.2752G>A c.(2752-2754)GAG>AAG p.E918K CC2D1A_uc002mxp.2_Missense_Mutation_p.E917K|CC2D1A_uc010dzh.2_Missense_Mutation_p.E487K NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 918 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GTTCTACACGGAGGCTGCCCG 0.687 NA 8 21 0 0 0 0 JAK3 3718 broad.mit.edu 37 19 17945733 17945733 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:17945733C>G uc002nhn.3 - 16 2227 c.2127G>C c.(2125-2127)TGG>TGC p.W709C JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.W709C NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 709 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CGCCGAAGCCCCACTTGTCAG 0.617 2 Mis acute megakaryocytic leukemia| 51 118 0 0 0 0 MAST3 23031 broad.mit.edu 37 19 18252811 18252811 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:18252811G>A uc002nhz.3 + 20 2238 c.2238G>A c.(2236-2238)CTG>CTA p.L746L NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 746 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GCCGCCGGCTGAGTGCTGACA 0.597 NA 4 16 0 0 0 0 GMIP 51291 broad.mit.edu 37 19 19740868 19740868 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:19740868C>T uc002nnd.2 - 21 2934 c.2817G>A c.(2815-2817)GAG>GAA p.E939E LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Silent_p.E913E|GMIP_uc010xrc.1_Silent_p.E910E NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 939 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GCCGGGCTGTCTCCTGGGTAA 0.682 NA 6 14 0 0 0 0 CCDC123 84902 broad.mit.edu 37 19 33370171 33370171 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:33370171C>T uc002nty.2 - 19 2338 c.2249G>A c.(2248-2250)AGA>AAA p.R750K CCDC123_uc002ntx.2_Missense_Mutation_p.R503K|CCDC123_uc010edg.2_RNA NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 750 centrosome|spindle pole 0 Esophageal squamous(110;0.137) AACCAGAGCTCTGGGGTTGTC 0.562 NA 71 168 0 0 0 0 ZNF573 126231 broad.mit.edu 37 19 38230601 38230601 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:38230601G>A uc002ohe.2 - 4 812 c.790C>T c.(790-792)CAT>TAT p.H264Y ZNF573_uc010efs.2_Missense_Mutation_p.H177Y|ZNF573_uc002ohd.2_Missense_Mutation_p.H262Y|ZNF573_uc002ohf.2_Missense_Mutation_p.H206Y|ZNF573_uc002ohg.2_Missense_Mutation_p.H176Y NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 244 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) ACTCTCTGATGAATTCTAAGA 0.428 NA 68 165 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38976258 38976258 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:38976258C>T uc002oit.2 + 34 5093 c.4963C>T c.(4963-4965)CGC>TGC p.R1655C RYR1_uc002oiu.2_Missense_Mutation_p.R1655C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1655 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGTCGGAGCGCCTGGACCT 0.602 NA 22 74 0 0 0 0 CAPN12 147968 broad.mit.edu 37 19 39230743 39230743 + Missense_Mutation SNP G G C rs148710823 by1000genomes TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:39230743G>C uc002ojd.1 - 5 986 c.677C>G c.(676-678)TCT>TGT p.S226C NM_144691 NP_653292 Q6ZSI9 CAN12_HUMAN calpain 12 226 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GCGCAGGGCAGAGAACAGCCC 0.627 NA 8 37 0 0 0 0 GRIK5 2901 broad.mit.edu 37 19 42510807 42510807 + Missense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:42510807G>T uc002osj.1 - 15 2062 c.2027C>A c.(2026-2028)ACC>AAC p.T676N GRIK5_uc002osi.1_Missense_Mutation_p.T248N NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 676 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) CTGGAAGAAGGTCATGGTGGA 0.622 NA 7 28 2.74e-10 2.91e-10 1 0 POU2F2 5452 broad.mit.edu 37 19 42599758 42599758 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:42599758C>T uc002osp.2 - 10 960 c.893G>A c.(892-894)CGC>CAC p.R298H POU2F2_uc002osn.2_Missense_Mutation_p.R282H|POU2F2_uc002oso.2_Missense_Mutation_p.R71H|POU2F2_uc002osq.2_Missense_Mutation_p.R282H|POU2F2_uc002osr.1_Missense_Mutation_p.R298H NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 298 Homeobox. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) CCTCTTCTTGCGTCTCCGGCC 0.647 NA 8 29 0 0 0 0 SYMPK 8189 broad.mit.edu 37 19 46319745 46319745 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:46319745C>G uc002pdn.2 - 25 3594 c.3349G>C c.(3349-3351)GAG>CAG p.E1117Q RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1117 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CTCACCTCCTCCAAGGGCCCC 0.657 NA 9 28 0 0 0 0 RPL28 6158 broad.mit.edu 37 19 55899356 55899356 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:55899356C>T uc002qkv.2 + 4 306 c.264C>T c.(262-264)GCC>GCT p.A88A RPL28_uc010yga.1_Silent_p.A88A|RPL28_uc010ygb.1_Silent_p.A88A|RPL28_uc002qkw.1_3'UTR NM_000991 NP_000982 P46779 RL28_HUMAN ribosomal protein L28 isoform 2 88 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) ATGCTCGCGCCACGCTCAGCA 0.622 NA 52 139 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57175433 57175433 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:57175433G>A uc010ygo.1 - 2 1200 c.1200C>T c.(1198-1200)CTC>CTT p.L400L ZNF835_uc010ygn.1_Silent_p.L378L NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GGCGGTGCTGGAGGAGGTGGG 0.667 NA 8 36 0 0 0 0 ZNF549 256051 broad.mit.edu 37 19 58048682 58048682 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:58048682C>T uc002qpb.1 + 4 559 c.310C>T c.(310-312)CAT>TAT p.H104Y ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.H91Y NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 104 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCAAATGCTCATTCTTGTGA 0.512 NA 49 138 0 0 0 0 ZNF211 10520 broad.mit.edu 37 19 58153100 58153100 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:58153100C>T uc002qpq.2 + 3 1426 c.1246C>T c.(1246-1248)CGG>TGG p.R416W ZNF211_uc010yhb.1_Missense_Mutation_p.R420W|ZNF211_uc002qpp.2_Missense_Mutation_p.R429W|ZNF211_uc002qpr.2_Missense_Mutation_p.R480W|ZNF211_uc002qps.2_Missense_Mutation_p.R481W|ZNF211_uc002qpt.2_Missense_Mutation_p.R428W|ZNF211_uc010yhc.1_Missense_Mutation_p.R428W|ZNF211_uc010yhd.1_Missense_Mutation_p.R355W|ZNF211_uc010yhe.1_Missense_Mutation_p.R407W NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 416 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CATTCACCACCGGAGACTTCA 0.478 NA 39 77 0 0 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189590 58189590 + Nonsense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr19:58189590G>T uc002qpu.2 + 5 1316 c.619G>T c.(619-621)GAA>TAA p.E207* NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 207 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCGAGTAAATGAAAATATTAC 0.403 NA 32 70 4.21e-06 4.43e-06 1 0 MYT1L 23040 broad.mit.edu 37 2 1843083 1843083 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:1843083C>T uc002qxe.2 - 21 3745 c.2918G>A c.(2917-2919)CGC>CAC p.R973H MYT1L_uc002qxd.2_Missense_Mutation_p.R971H|MYT1L_uc010ewk.2_5'UTR NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 973 C2HC-type 5. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGAGGCGCTGCGATGGGACGC 0.632 NA 53 52 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1926709 1926709 + Nonsense_Mutation SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:1926709C>A uc002qxe.2 - 10 1659 c.832G>T c.(832-834)GAA>TAA p.E278* MYT1L_uc002qxd.2_Nonsense_Mutation_p.E278*|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 278 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTCATGTTTTCTGAGAGCACA 0.423 NA 84 131 1.43e-55 1.57e-55 1 0 NBAS 51594 broad.mit.edu 37 2 15417101 15417101 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:15417101C>G uc002rcc.1 - 43 5289 c.5263G>C c.(5263-5265)GAT>CAT p.D1755H NBAS_uc010exl.1_Missense_Mutation_p.D827H|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1755 ovary(2)|liver(1)|skin(1) 4 CTTTCGTGATCAAAGCCACCA 0.443 NA 23 40 0 0 0 0 CLIP4 79745 broad.mit.edu 37 2 29356671 29356671 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:29356671C>T uc002rmv.2 + 5 757 c.518C>T c.(517-519)TCG>TTG p.S173L CLIP4_uc002rmu.2_Missense_Mutation_p.S173L|CLIP4_uc010ezm.1_Missense_Mutation_p.S173L|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.S155L NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 173 ANK 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TTGAAAACATCGAAACCAAAA 0.333 NA 27 54 0 0 0 0 VIT 5212 broad.mit.edu 37 2 36956606 36956606 + Silent SNP G G A rs147850488 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:36956606G>A uc002rpl.2 + 3 311 c.90G>A c.(88-90)ACG>ACA p.T30T VIT_uc002rpk.2_Silent_p.T23T|VIT_uc010ynf.1_Silent_p.T23T|VIT_uc002rpm.2_Silent_p.T23T|VIT_uc010ezv.2_Silent_p.T23T|VIT_uc010ezw.2_Silent_p.T23T NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 30 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) ACAAAGAAACGGCAAAGAAGA 0.299 NA 32 57 0 0 0 0 KLRAQ1 129285 broad.mit.edu 37 2 48681851 48681851 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:48681851C>T uc002rwm.2 + 3 429 c.244C>T c.(244-246)CTA>TTA p.L82L KLRAQ1_uc002rwi.1_Silent_p.L82L|KLRAQ1_uc002rwj.2_Silent_p.L82L|KLRAQ1_uc002rwl.2_Silent_p.L36L|KLRAQ1_uc002rwk.2_Silent_p.L82L|KLRAQ1_uc010yok.1_Silent_p.L82L NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 82 Potential. ovary(1) 1 TGAACTAGCTCTAAGTGAACC 0.428 NA 33 43 0 0 0 0 MEIS1 4211 broad.mit.edu 37 2 66691284 66691284 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:66691284C>T uc002sdu.2 + 7 1131 c.674C>T c.(673-675)TCA>TTA p.S225L MEIS1_uc002sdt.2_Missense_Mutation_p.S225L|MEIS1_uc002sdv.2_Missense_Mutation_p.S223L|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.S160L|MEIS1_uc002sdw.1_Missense_Mutation_p.S81L NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 225 Ser/Thr-rich. sequence-specific DNA binding transcription factor activity 0 TCTACTCGTTCAGGAGGAACC 0.512 NA 3 10 0 0 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459920 107459920 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:107459920G>A uc002tdq.2 - 2 633 c.514C>T c.(514-516)CGG>TGG p.R172W ST6GAL2_uc002tdr.2_Missense_Mutation_p.R172W|ST6GAL2_uc002tds.3_Missense_Mutation_p.R172W NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 172 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TTCTTCACCCGCCTCCTCTGG 0.657 NA 53 81 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165995989 165995989 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:165995989C>T uc002ucx.2 - 14 2641 c.2149G>A c.(2149-2151)GAA>AAA p.E717K SCN3A_uc002ucy.2_Missense_Mutation_p.E668K|SCN3A_uc002ucz.2_Missense_Mutation_p.E668K|SCN3A_uc002uda.1_Missense_Mutation_p.E537K|SCN3A_uc002udb.1_Missense_Mutation_p.E537K NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 717 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTCTTACCTTCCATTGTGTTG 0.433 NA 41 38 0 0 0 0 TTC21B 79809 broad.mit.edu 37 2 166758288 166758288 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:166758288C>T uc002udk.2 - 20 2834 c.2701G>A c.(2701-2703)GAA>AAA p.E901K NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 901 TPR 13. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 ATTGCTTTTTCATAGTCTCGC 0.368 NA 23 37 0 0 0 0 SCN7A 6332 broad.mit.edu 37 2 167334107 167334107 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:167334107C>T uc002udu.1 - 2 227 c.100G>A c.(100-102)GAA>AAA p.E34K SCN7A_uc002udv.1_Missense_Mutation_p.E34K NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 34 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TCTTCTTCTTCATGGTCTTCA 0.388 NA 10 10 0 0 0 0 STAT1 6772 broad.mit.edu 37 2 191873691 191873691 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:191873691G>A uc002usj.2 - 4 659 c.271C>T c.(271-273)CAG>TAG p.Q91* STAT1_uc010fse.1_Nonsense_Mutation_p.Q91*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q91*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q93*|STAT1_uc010fsf.1_5'UTR NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 91 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GGTCATACCTGAAGATTACGC 0.368 NA 26 3 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215843708 215843708 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:215843708G>A uc002vew.2 - 32 5017 c.4797C>T c.(4795-4797)ATC>ATT p.I1599I ABCA12_uc002vev.2_Silent_p.I1281I|ABCA12_uc010zjn.1_Silent_p.I526I NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1599 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GATGTGATTGGATCATTGCTG 0.448 NA 44 48 0 0 0 0 GIGYF2 26058 broad.mit.edu 37 2 233704679 233704679 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:233704679G>C uc002vti.3 + 25 3224 c.2887G>C c.(2887-2889)GAG>CAG p.E963Q GIGYF2_uc002vtj.3_Missense_Mutation_p.E984Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.E963Q|GIGYF2_uc002vth.3_Missense_Mutation_p.E957Q|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.E794Q|GIGYF2_uc002vtq.3_Missense_Mutation_p.E296Q NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 963 Gln-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCTTCGAGAAGAGGTAAAATT 0.448 NA 9 23 0 0 0 0 C2orf54 79919 broad.mit.edu 37 2 241834961 241834961 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr2:241834961G>A uc002wae.3 - 1 613 c.454C>T c.(454-456)CTC>TTC p.L152F NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN hypothetical protein LOC79919 isoform 1 152 0 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) AGGTCCTTGAGGACACACAGG 0.607 NA 6 14 0 0 0 0 PLCB4 5332 broad.mit.edu 37 20 9416276 9416276 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr20:9416276G>A uc002wnf.2 + 27 2694 c.2558G>A c.(2557-2559)AGA>AAA p.R853K PLCB4_uc010gbw.1_Missense_Mutation_p.R853K|PLCB4_uc010gbx.2_Missense_Mutation_p.R865K|PLCB4_uc002wne.2_Missense_Mutation_p.R853K|PLCB4_uc002wnh.2_Missense_Mutation_p.R700K NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 853 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 GACCAAATGAGAGCTATGGGC 0.368 NA 28 79 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40065914 40065914 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr20:40065914C>T uc002xka.1 - 27 4246 c.4068G>A c.(4066-4068)ACG>ACA p.T1356T CHD6_uc002xkb.1_Silent_p.T122T NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1356 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTTGACTCACCGTTTGTTTCT 0.373 NA 25 117 0 0 0 0 HNF4A 3172 broad.mit.edu 37 20 43030051 43030051 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr20:43030051C>T uc002xma.2 + 1 128 c.39C>T c.(37-39)GCC>GCT p.A13A HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Silent_p.A13A|HNF4A_uc002xlz.2_Silent_p.A13A|HNF4A_uc010ggq.2_5'UTR NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 13 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGGACATGGCCGACTACAGTG 0.637 NA 31 92 0 0 0 0 NCOA3 8202 broad.mit.edu 37 20 46264311 46264311 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr20:46264311C>T uc002xtk.2 + 11 1563 c.1358C>T c.(1357-1359)TCC>TTC p.S453F NCOA3_uc010ght.1_Missense_Mutation_p.S463F|NCOA3_uc002xtl.2_Missense_Mutation_p.S453F|NCOA3_uc002xtm.2_Missense_Mutation_p.S453F|NCOA3_uc002xtn.2_Missense_Mutation_p.S453F|NCOA3_uc010zyc.1_Missense_Mutation_p.S248F NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 453 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TCACCATCTTCCTACCAGAAC 0.522 NA 26 82 0 0 0 0 ADNP 23394 broad.mit.edu 37 20 49508078 49508078 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr20:49508078G>C uc002xvt.1 - 5 3518 c.3173C>G c.(3172-3174)TCT>TGT p.S1058C ADNP_uc002xvu.1_Missense_Mutation_p.S1058C NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 1058 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 CTGGGGGTTAGATAAGCGCTC 0.458 NA 56 194 0 0 0 0 CTCFL 140690 broad.mit.edu 37 20 56073693 56073693 + Silent SNP G G A rs141206026 by1000genomes TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr20:56073693G>A uc010gix.1 - 10 2567 c.1905C>T c.(1903-1905)GTC>GTT p.V635V CTCFL_uc010giw.1_Silent_p.V635V|CTCFL_uc002xym.2_Silent_p.V635V|CTCFL_uc010giz.1_Silent_p.V223V|CTCFL_uc010giy.1_Silent_p.V305V|CTCFL_uc010gja.1_Silent_p.V585V|CTCFL_uc010gjb.1_Silent_p.V635V|CTCFL_uc010gjc.1_Silent_p.V635V|CTCFL_uc010gjd.1_Silent_p.V635V|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_Intron NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 635 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CTCTGCAGGCGACAGGAAACA 0.502 NA 37 101 0 0 0 0 LIPI 149998 broad.mit.edu 37 21 15525004 15525004 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr21:15525004G>A uc002yjm.2 - 8 1081 c.1071C>T c.(1069-1071)ACC>ACT p.T357T NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 336 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CAAAATAATAGGCTACAAAAT 0.209 NA 9 22 0 0 0 0 SON 6651 broad.mit.edu 37 21 34931547 34931547 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr21:34931547G>A uc002yse.1 + 5 6382 c.6333G>A c.(6331-6333)CAG>CAA p.Q2111Q SON_uc002ysc.2_Silent_p.Q2111Q|SON_uc002ysd.2_Silent_p.Q1102Q|SON_uc002ysf.1_Silent_p.Q139Q|SON_uc002ysg.2_Silent_p.Q1102Q NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 2111 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AATGTAAACAGATCGCACAGA 0.303 NA 23 61 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47836709 47836709 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr21:47836709G>A uc002zji.3 + 30 6984 c.6877G>A c.(6877-6879)GAG>AAG p.E2293K PCNT_uc002zjj.2_Missense_Mutation_p.E2175K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2293 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.E2293K(1) ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GCAGTGGGCCGAGTCTCCGCC 0.692 NA 19 19 0 0 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:22127164C>T uc002zvn.2 - 7 1204 c.964G>A c.(964-966)GAG>AAG p.E322K MAPK1_uc002zvo.2_Missense_Mutation_p.E322K|MAPK1_uc010gtk.1_Missense_Mutation_p.E278K NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478 NA 20 37 0 0 0 0 ADRBK2 157 broad.mit.edu 37 22 26083563 26083563 + Missense_Mutation SNP T T A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:26083563T>A uc003abx.3 + 11 1033 c.886T>A c.(886-888)TTT>ATT p.F296I ADRBK2_uc010gux.2_Missense_Mutation_p.F296I|ADRBK2_uc003abw.2_Missense_Mutation_p.F183I|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 296 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) GGAGATGCGGTTTTATGCCAC 0.428 NA 22 39 0 0 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691791 30691791 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:30691791C>T uc011akt.1 - 4 483 c.459G>A c.(457-459)GTG>GTA p.V153V GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.V11V|TBC1D10A_uc003ahj.3_Silent_p.V65V|TBC1D10A_uc010gvu.2_Silent_p.V160V|TBC1D10A_uc003ahk.3_Silent_p.V153V NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 153 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CACGCTCAATCACGTCCAGCC 0.627 NA 10 28 0 0 0 0 RFPL3 10738 broad.mit.edu 37 22 32756289 32756289 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:32756289G>A uc003amj.2 + 2 629 c.424G>A c.(424-426)GAC>AAC p.D142N RFPL3_uc010gwn.2_Missense_Mutation_p.D113N|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 142 B30.2/SPRY. zinc ion binding ovary(1) 1 CCTCATTTCTGACGACCTCAG 0.532 NA 45 92 0 0 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662468 40662468 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:40662468G>C uc011aor.1 + 5 2445 c.2234G>C c.(2233-2235)GGA>GCA p.G745A TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.G745A|TNRC6B_uc003ayo.2_Missense_Mutation_p.G549A NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 745 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 TGGTCTTCTGGAAAGAATGGT 0.517 NA 11 27 0 0 0 0 NAGA 4668 broad.mit.edu 37 22 42461763 42461763 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:42461763C>T uc003bbx.2 - 7 875 c.738G>A c.(736-738)GGG>GGA p.G246G NAGA_uc003bby.2_Silent_p.G246G|NAGA_uc003bbw.3_Silent_p.G246G NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 246 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 CATTCCAGTGCCCAGGGCCGG 0.587 NA 14 48 0 0 0 0 MCAT 27349 broad.mit.edu 37 22 43529294 43529294 + Missense_Mutation SNP C C T rs144085201 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:43529294C>T uc003bdl.1 - 4 977 c.928G>A c.(928-930)GGG>AGG p.G310R MCAT_uc003bdm.1_3'UTR NM_173467 NP_775738 Q8IVS2 FABD_HUMAN mitochondrial malonyltransferase isoform a 310 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding ovary(1) 1 Ovarian(80;0.0694) TGGATGTGCCCGGGATGCCTG 0.567 NA 16 150 0 0 0 0 GRAMD4 23151 broad.mit.edu 37 22 47071407 47071407 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr22:47071407G>A uc003bhx.2 + 16 1560 c.1521G>A c.(1519-1521)AGG>AGA p.R507R GRAMD4_uc010had.2_Silent_p.R446R|GRAMD4_uc003bhy.2_Silent_p.R30R NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 507 GRAM. apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCTCAAAGAGGAACAAAGTCA 0.552 NA 76 109 0 0 0 0 GRM7 2917 broad.mit.edu 37 3 7188201 7188201 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:7188201C>G uc003bqm.2 + 2 856 c.582C>G c.(580-582)TTC>TTG p.F194L GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.F194L|GRM7_uc003bql.2_Missense_Mutation_p.F194L NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 194 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) GCTATGACTTCTTCTCTCGCG 0.537 NA 44 118 0 0 0 0 BRPF1 7862 broad.mit.edu 37 3 9783100 9783100 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:9783100C>T uc003bse.2 + 5 2230 c.1831C>T c.(1831-1833)CGG>TGG p.R611W BRPF1_uc003bsf.2_Missense_Mutation_p.R611W|BRPF1_uc003bsg.2_Missense_Mutation_p.R611W|BRPF1_uc011ati.1_Missense_Mutation_p.R611W NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 611 Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GATCCGCAAGCGGGAAAAACT 0.428 NA 22 103 0 0 0 0 DLEC1 9940 broad.mit.edu 37 3 38103718 38103718 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:38103718G>C uc003cho.1 + 4 753 c.732G>C c.(730-732)CAG>CAC p.Q244H DLEC1_uc003chp.1_Missense_Mutation_p.Q244H|DLEC1_uc010hgv.1_Missense_Mutation_p.Q244H|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 244 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GTTCCGTCCAGAAGAAAGAGC 0.453 NA 29 73 0 0 0 0 SCN10A 6336 broad.mit.edu 37 3 38755460 38755460 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:38755460C>G uc003ciq.2 - 21 3793 c.3793G>C c.(3793-3795)GAA>CAA p.E1265Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1265 III. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CGCATGCCTTCAAATCGAGAA 0.358 NA 32 89 0 0 0 0 SNRK 54861 broad.mit.edu 37 3 43388882 43388882 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:43388882C>G uc003cms.3 + 7 1463 c.1131C>G c.(1129-1131)CTC>CTG p.L377L SNRK_uc003cmt.3_Silent_p.L377L|SNRK_uc010hik.2_Silent_p.L377L|SNRK_uc011azr.1_Silent_p.L171L NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN SNF related kinase 377 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) AGGATGACCTCACGGCCACTC 0.522 NA 26 110 0 0 0 0 TGM4 7047 broad.mit.edu 37 3 44951844 44951844 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:44951844G>A uc003coc.3 + 11 1663 c.1590G>A c.(1588-1590)TCG>TCA p.S530S NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 530 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATAAGACCTCGCAGATCCAAG 0.507 NA 27 63 0 0 0 0 TEX264 51368 broad.mit.edu 37 3 51708495 51708495 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:51708495G>A uc010hls.2 + 3 344 c.175G>A c.(175-177)GAG>AAG p.E59K TEX264_uc003dbk.3_Missense_Mutation_p.E59K|TEX264_uc010hlt.2_Intron|TEX264_uc003dbl.3_Missense_Mutation_p.E59K|TEX264_uc003dbm.3_Missense_Mutation_p.E98K NM_001129884 NP_001123356 Q9Y6I9 TX264_HUMAN testis expressed 264 precursor 59 extracellular region 0 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) GCTCTATGGTGAGACTGGGCG 0.587 NA 33 94 0 0 0 0 GRM2 2912 broad.mit.edu 37 3 51752122 51752122 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:51752122G>A uc010hlv.2 + 6 2852 c.2613G>A c.(2611-2613)TCG>TCA p.S871S GRM2_uc003dbo.3_Silent_p.S253S|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 871 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CAACGTCATCGCTTTGAAGAC 0.582 NA 81 227 0 0 0 0 TLR9 54106 broad.mit.edu 37 3 52256442 52256442 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:52256442C>G uc003dda.1 - 2 2524 c.1890G>C c.(1888-1890)TTG>TTC p.L630F TLR9_uc003ddb.2_Missense_Mutation_p.L727F NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 630 LRR 21.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCAGCCAGATCAAACCGCTCA 0.612 NA 17 73 0 0 0 0 TLR9 54106 broad.mit.edu 37 3 52257323 52257323 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:52257323G>A uc003dda.1 - 2 1643 c.1009C>T c.(1009-1011)CGC>TGC p.R337C TLR9_uc003ddb.2_Missense_Mutation_p.R434C NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 337 LRR 11.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TTAAGCTTGCGCAGCTGTGTT 0.557 NA 43 97 0 0 0 0 DNAH1 25981 broad.mit.edu 37 3 52425293 52425293 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:52425293G>C uc011bef.1 + 62 10101 c.9840G>C c.(9838-9840)GAG>GAC p.E3280D DNAH1_uc003ddv.2_Missense_Mutation_p.E138D NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3345 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTCTCCTGGAGAACGTGGGCG 0.607 NA 7 17 0 0 0 0 ITIH1 3697 broad.mit.edu 37 3 52819193 52819193 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:52819193G>A uc003dfs.2 + 12 1565 c.1541G>A c.(1540-1542)CGC>CAC p.R514H ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.R115H|ITIH1_uc010hmo.1_Missense_Mutation_p.R68H|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 514 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GTGGCCGGGCGCATTGCTGAC 0.572 NA 32 135 0 0 0 0 FLNB 2317 broad.mit.edu 37 3 58155432 58155432 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:58155432C>T uc003djj.2 + 45 7698 c.7533C>T c.(7531-7533)GAC>GAT p.D2511D FLNB_uc010hne.2_Silent_p.D2542D|FLNB_uc003djk.2_Silent_p.D2500D|FLNB_uc010hnf.2_Silent_p.D2487D|FLNB_uc003djl.2_Silent_p.D2331D|FLNB_uc003djm.2_Silent_p.D2318D|uc003djn.2_Intron NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2511 Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity).|Interaction with FLNA 2. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CATCCTCGGACGCCAGCAAGG 0.592 NA 116 84 0 0 0 0 TMF1 7110 broad.mit.edu 37 3 69088019 69088019 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:69088019G>A uc003dnn.2 - 7 2216 c.1969C>T c.(1969-1971)CAG>TAG p.Q657* TMF1_uc011bfx.1_Nonsense_Mutation_p.Q660* NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 657 Potential. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGGGCAGCCTGAATACTTCGG 0.353 NA 40 119 0 0 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432819 73432819 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:73432819C>T uc003dpl.1 - 10 2994 c.2898G>A c.(2896-2898)GAG>GAA p.E966E PDZRN3_uc011bgh.1_Silent_p.E623E|PDZRN3_uc010hoe.1_Silent_p.E664E|PDZRN3_uc011bgf.1_Silent_p.E683E|PDZRN3_uc011bgg.1_Silent_p.E686E NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 966 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCATCTTCATCTCGCTCACCG 0.667 NA 55 119 0 0 0 0 CNTN3 5067 broad.mit.edu 37 3 74414719 74414719 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:74414719C>T uc003dpm.1 - 8 1161 c.1081G>A c.(1081-1083)GAG>AAG p.E361K NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 361 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TACCTTACCTCTAGCACCAGG 0.498 NA 119 329 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 85935436 85935436 + Missense_Mutation SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:85935436C>A uc003dqj.2 + 4 1087 c.461C>A c.(460-462)GCA>GAA p.A154E CADM2_uc003dqk.2_Missense_Mutation_p.A163E|CADM2_uc003dql.2_Missense_Mutation_p.A156E NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 154 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) AGTAAACCTGCAGCTGATATA 0.363 NA 21 55 2.39e-15 2.57e-15 1 0 LSAMP 4045 broad.mit.edu 37 3 115805246 115805246 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:115805246C>T uc003ebt.2 - 2 813 c.313G>A c.(313-315)GAT>AAT p.D105N LSAMP_uc011bis.1_Missense_Mutation_p.D105N NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 105 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) GAACCCTCATCATAGACATCC 0.498 NA 35 67 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147127991 147127991 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:147127991G>A uc003ewe.2 + 1 811 c.92G>A c.(91-93)CGA>CAA p.R31Q NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 31 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTGGCCGAACGAGACGTGGGC 0.706 NA 11 38 0 0 0 0 CP 1356 broad.mit.edu 37 3 148897378 148897378 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:148897378G>A uc003ewy.3 - 15 2879 c.2626C>T c.(2626-2628)CCA>TCA p.P876S CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.P28S|CP_uc003ewx.3_Missense_Mutation_p.P657S|CP_uc003ewz.2_Missense_Mutation_p.P876S NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 876 Plastocyanin-like 5.|F5/8 type A 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TAAGCCCATGGAATACAAGCA 0.373 NA 57 34 0 0 0 0 RNF13 11342 broad.mit.edu 37 3 149678787 149678787 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:149678787G>C uc003exn.3 + 11 1826 c.1042G>C c.(1042-1044)GAT>CAT p.D348H RNF13_uc003exp.3_Missense_Mutation_p.D348H|RNF13_uc010hvh.2_Missense_Mutation_p.D229H NM_007282 NP_009213 O43567 RNF13_HUMAN ring finger protein 13 348 Cytoplasmic (Potential). protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CGACAATGAAGATACTGACAG 0.423 NA 21 104 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 150911287 150911287 + Missense_Mutation SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:150911287C>A uc003eyp.2 + 14 2017 c.1979C>A c.(1978-1980)CCT>CAT p.P660H MED12L_uc011bnz.1_Missense_Mutation_p.P520H|MED12L_uc003eyn.2_Missense_Mutation_p.P695H|MED12L_uc003eyo.2_Missense_Mutation_p.P660H NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 660 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTTTTTCTCCTATGCCTGGA 0.398 NA 32 80 1.31e-24 1.42e-24 1 0 MYNN 55892 broad.mit.edu 37 3 169504251 169504251 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:169504251G>C uc003fft.2 + 8 2047 c.1618G>C c.(1618-1620)GAA>CAA p.E540Q MYNN_uc011bpm.1_Missense_Mutation_p.E426Q|MYNN_uc003ffu.2_Missense_Mutation_p.E540Q|MYNN_uc003ffv.2_Missense_Mutation_p.E267Q|MYNN_uc010hwo.2_Missense_Mutation_p.E511Q NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 540 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TACTTTGAGTGAACAGGATTC 0.373 NA 59 148 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 23 85 0 0 0 0 PSMD2 5708 broad.mit.edu 37 3 184020171 184020171 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:184020171G>A uc003fnn.1 + 6 751 c.718G>A c.(718-720)GTG>ATG p.V240M PSMD2_uc011brj.1_Missense_Mutation_p.V81M|PSMD2_uc011brk.1_Missense_Mutation_p.V110M NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 240 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) TGTGAATTACGTGCCTGAGCC 0.403 NA 25 65 0 0 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043060 184043060 + Nonsense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:184043060C>T uc003fnp.2 + 19 3058 c.2860C>T c.(2860-2862)CGA>TGA p.R954* EIF4G1_uc003fno.1_Nonsense_Mutation_p.R895*|EIF4G1_uc010hxw.1_Nonsense_Mutation_p.R790*|EIF4G1_uc003fnt.2_Nonsense_Mutation_p.R665*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.R867*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.R790*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.R961*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.R914*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.R961*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.R955*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.R954*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.R961*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.R759*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.R758*|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 954 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCCTAGCCCCGAATGGATCA 0.522 NA 31 109 0 0 0 0 FGFR3 2261 broad.mit.edu 37 4 1808852 1808852 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:1808852G>C uc003gdr.3 + 18 2540 c.2284G>C c.(2284-2286)GAC>CAC p.D762H FGFR3_uc003gdu.2_Missense_Mutation_p.D764H|FGFR3_uc003gds.3_Missense_Mutation_p.D650H|FGFR3_uc003gdq.3_Missense_Mutation_p.G739A NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 762 Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGAGTACCTGGACCTGTCGGC 0.701 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 3 8 0 0 0 0 FGFR3 2261 broad.mit.edu 37 4 1808924 1808924 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:1808924G>A uc003gdr.3 + 18 2612 c.2356G>A c.(2356-2358)GAC>AAC p.D786N FGFR3_uc003gdu.2_Missense_Mutation_p.D788N|FGFR3_uc003gds.3_Missense_Mutation_p.D674N|FGFR3_uc003gdq.3_Missense_Mutation_p.R763Q NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 786 Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTCAGGGGACGACTCCGTGTT 0.701 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 10 7 0 0 0 0 STIM2 57620 broad.mit.edu 37 4 27024254 27024254 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:27024254C>T uc003gsh.3 + 13 2378 c.2162C>T c.(2161-2163)TCA>TTA p.S721L STIM2_uc003gsg.3_Missense_Mutation_p.S713L|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 626 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) CGAAAGATATCAAGAGATGAG 0.468 NA 49 76 0 0 0 0 TBC1D1 23216 broad.mit.edu 37 4 38117541 38117541 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:38117541G>A uc003gtb.2 + 16 3111 c.2768G>A c.(2767-2769)CGG>CAG p.R923Q TBC1D1_uc011byd.1_Missense_Mutation_p.R1017Q|TBC1D1_uc010ifd.2_Missense_Mutation_p.R710Q NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 923 Rab-GAP TBC. nucleus Rab GTPase activator activity ovary(1) 1 ATGGGGCTGCGGAAACAGTAT 0.403 NA 43 45 0 0 0 0 HSD17B13 345275 broad.mit.edu 37 4 88231424 88231424 + Silent SNP C C T rs113762141 byFrequency TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:88231424C>T uc003hqo.2 - 6 846 c.783G>A c.(781-783)TCG>TCA p.S261S HSD17B13_uc010ikk.2_Silent_p.S225S NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 261 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TATTGATATACGATGGAACAA 0.299 NA 31 79 0 0 0 0 LARP1B 55132 broad.mit.edu 37 4 129043065 129043065 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:129043065G>A uc003iga.2 + 11 1377 c.1246G>A c.(1246-1248)GAT>AAT p.D416N LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.D416N|LARP1B_uc003igb.1_Missense_Mutation_p.D131N NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 416 RNA binding 0 TTTTTTGTTTGATGAAGAGAT 0.333 NA 24 34 0 0 0 0 FGG 2266 broad.mit.edu 37 4 155531239 155531239 + Missense_Mutation SNP A A T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:155531239A>T uc003ioj.2 - 5 653 c.512T>A c.(511-513)ATC>AAC p.I171N FGG_uc003iog.2_Missense_Mutation_p.I171N|FGG_uc003ioh.2_Missense_Mutation_p.I171N|FGG_uc010ipx.2_Intron|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.I171N NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 171 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GATATCATGGATTTGCACCGT 0.368 NA 63 96 0 0 0 0 NPY5R 4889 broad.mit.edu 37 4 164271506 164271506 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:164271506C>T uc003iqn.2 + 4 263 c.81C>T c.(79-81)TTC>TTT p.F27F NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 27 Extracellular (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) ATTCTGATTTCCCAGTCTGGG 0.393 NA 41 69 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177056386 177056386 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr4:177056386C>T uc003iuj.2 + 9 1454 c.1298C>T c.(1297-1299)CCG>CTG p.P433L WDR17_uc003iuk.2_Missense_Mutation_p.P409L|WDR17_uc003ium.3_Missense_Mutation_p.P409L|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 433 p.P433L(1) ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TACACATCCCCGGGTAATGAA 0.338 NA 62 88 0 0 0 0 SLC9A3 6550 broad.mit.edu 37 5 484663 484663 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:484663C>T uc003jbe.2 - 5 1016 c.904G>A c.(904-906)GAG>AAG p.E302K SLC9A3_uc011clx.1_Missense_Mutation_p.E302K NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 302 Helical; Name=I/M7; (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GACAGCATCTCGGACGTCAGG 0.632 NA 18 117 0 0 0 0 TRIO 7204 broad.mit.edu 37 5 14492748 14492748 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:14492748G>A uc003jff.2 + 49 7711 c.7705G>A c.(7705-7707)GAG>AAG p.E2569K TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2569 SH3 2. 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) GAAGGAGGATGAGATCAACGT 0.532 NA 16 145 0 0 0 0 PDZD2 23037 broad.mit.edu 37 5 32108096 32108096 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:32108096G>A uc003jhl.2 + 25 8763 c.8375G>A c.(8374-8376)GGA>GAA p.G2792E PDZD2_uc003jhm.2_Missense_Mutation_p.G2792E|PDZD2_uc003jhn.2_RNA|PDZD2_uc003jho.2_RNA NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2792 PDZ 6. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GAACAAGCTGGAATAATAGAA 0.373 NA 33 231 0 0 0 0 SKP2 6502 broad.mit.edu 37 5 36181999 36181999 + Nonsense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:36181999G>T uc003jkc.1 + 10 1323 c.1141G>T c.(1141-1143)GAA>TAA p.E381* SKP2_uc011cou.1_Nonsense_Mutation_p.E167*|SKP2_uc003jkd.2_Intron NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 381 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTGTTAAAGGAAGCCCTTCC 0.423 NA 86 360 9.61e-26 1.05e-25 1 0 C6 729 broad.mit.edu 37 5 41160316 41160316 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:41160316C>T uc003jmk.2 - 11 1822 c.1612G>A c.(1612-1614)GAA>AAA p.E538K C6_uc003jml.1_Missense_Mutation_p.E538K NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 538 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACAGACATTCAGTCCCTGAG 0.473 NA 45 382 0 0 0 0 SNX18 112574 broad.mit.edu 37 5 53815217 53815217 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:53815217G>C uc003jpj.3 + 1 1625 c.1435G>C c.(1435-1437)GAG>CAG p.E479Q SNX18_uc011cqg.1_Missense_Mutation_p.E479Q|SNX18_uc003jpi.3_Missense_Mutation_p.E479Q NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 479 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) CCAGGCCTTTGAGCTGGACCA 0.627 NA 20 33 0 0 0 0 DHX29 54505 broad.mit.edu 37 5 54585191 54585191 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:54585191C>T uc003jpx.2 - 8 1093 c.973G>A c.(973-975)GAA>AAA p.E325K DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 325 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTTTTCCTTTCATTTTGTTGA 0.333 NA 23 30 0 0 0 0 SFRS12IP1 285672 broad.mit.edu 37 5 64020228 64020228 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:64020228C>T uc003jtk.2 - 5 603 c.451G>A c.(451-453)GAA>AAA p.E151K NM_173829 NP_776190 Q8N9Q2 SR1IP_HUMAN P18SRP protein 151 mRNA processing|RNA splicing nucleic acid binding|zinc ion binding 0 Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.119) CTGGAGAATTCAGAACTATTA 0.199 NA 14 27 0 0 0 0 GFM2 84340 broad.mit.edu 37 5 74018254 74018254 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:74018254G>A uc003kdh.1 - 20 2465 c.2161C>T c.(2161-2163)CGC>TGC p.R721C GFM2_uc003kdi.1_Missense_Mutation_p.R674C|GFM2_uc010izj.1_Missense_Mutation_p.R753C|GFM2_uc010izk.1_RNA NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 721 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TTGTCCTGGCGAGTCTGAATT 0.403 NA 49 106 0 0 0 0 ARSB 411 broad.mit.edu 37 5 78076243 78076243 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:78076243C>T uc003kfq.2 - 8 2865 c.1579G>A c.(1579-1581)GGG>AGG p.G527R NM_000046 NP_000037 P15848 ARSB_HUMAN arylsulfatase B isoform 1 precursor 527 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity upper_aerodigestive_tract(1) 1 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) CCCCACACCCCAGTGGCCTTG 0.532 NA 41 62 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89981662 89981662 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:89981662G>A uc003kju.2 + 29 6436 c.6340G>A c.(6340-6342)GAT>AAT p.D2114N GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2114 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CATTGCCAATGATGATGCATT 0.428 NA 26 32 0 0 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209500 140209500 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:140209500G>A uc003lho.2 + 1 1851 c.1824G>A c.(1822-1824)TCG>TCA p.S608S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S608S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 608 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGCTTTCGTATGAGCTGC 0.657 NA 43 52 0 0 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250862 140250862 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:140250862C>T uc003lia.2 + 1 3032 c.2174C>T c.(2173-2175)ACG>ATG p.T725M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.T725M NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 725 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCGGCAACGCCCACTGAG 0.667 NA 24 40 0 0 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626472 140626472 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:140626472G>A uc003lje.2 + 1 1326 c.1326G>A c.(1324-1326)TCG>TCA p.S442S NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 442 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGTGTCGGACGTCAATG 0.587 NA 45 77 0 0 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720677 140720677 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:140720677G>A uc003ljk.1 + 1 2324 c.2139G>A c.(2137-2139)GCG>GCA p.A713A PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.A713A|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 713 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTGCTGGCGCACAGGCTGC 0.647 NA 42 81 0 0 0 0 TCERG1 10915 broad.mit.edu 37 5 145851051 145851051 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:145851051G>A uc003lob.2 + 9 1553 c.1513G>A c.(1513-1515)GAG>AAG p.E505K TCERG1_uc003loc.2_Missense_Mutation_p.E484K|TCERG1_uc011dbt.1_Missense_Mutation_p.E484K NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 505 Glu-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTCTTGTAGGAGCCCAAAGA 0.403 NA 42 69 0 0 0 0 DCTN4 51164 broad.mit.edu 37 5 150097909 150097909 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:150097909C>G uc003lsv.2 - 11 1102 c.1000G>C c.(1000-1002)GAG>CAG p.E334Q DCTN4_uc003lsu.2_Missense_Mutation_p.E277Q|DCTN4_uc010jhi.2_Missense_Mutation_p.E341Q NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b 334 centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGAGGTTCTCAACTGGATTT 0.483 NA 27 45 0 0 0 0 C5orf54 63920 broad.mit.edu 37 5 159820802 159820802 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:159820802C>T uc003lye.1 - 2 2160 c.1696G>A c.(1696-1698)GAT>AAT p.D566N C5orf54_uc003lyf.1_Missense_Mutation_p.D566N NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 566 pancreas(1) 1 cggatatcatcactcagatta 0 NA 10 6 0 0 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176072440 176072440 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:176072440C>G uc010jkf.1 + 8 1121 c.537C>G c.(535-537)GTC>GTG p.V179V TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank NM_001099408 NP_001092878 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E 179 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity 0 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCCGTCGTCAACATCCGCA 0.622 NA 19 38 0 0 0 0 ZNF354C 30832 broad.mit.edu 37 5 178505983 178505983 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr5:178505983G>C uc003mju.2 + 5 665 c.550G>C c.(550-552)GAA>CAA p.E184Q NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) TGTTCCTATAGAAAGGATACC 0.353 NA 32 69 0 0 0 0 FARS2 10667 broad.mit.edu 37 6 5368981 5368981 + Nonsense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:5368981C>T uc010jnv.1 + 2 514 c.178C>T c.(178-180)CAG>TAG p.Q60* FARS2_uc003mwr.2_Nonsense_Mutation_p.Q60*|FARS2_uc003mws.1_Nonsense_Mutation_p.Q60* NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 60 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) ATCCTACCCTCAGGACGACCA 0.612 NA 29 48 0 0 0 0 GNL1 2794 broad.mit.edu 37 6 30523396 30523396 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:30523396G>A uc003nqh.2 - 2 1203 c.175C>T c.(175-177)CAT>TAT p.H59Y GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.H57Y|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 59 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 CTGCGGATATGATGGGTCACA 0.657 NA 46 96 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38891905 38891905 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:38891905G>A uc003ooe.1 + 71 10878 c.10278G>A c.(10276-10278)CTG>CTA p.L3426L uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CAGAAAACCTGAATCTTATTT 0.348 NA 30 90 0 0 0 0 PGC 5225 broad.mit.edu 37 6 41712219 41712219 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:41712219G>A uc003ora.1 - 3 293 c.244C>T c.(244-246)CCA>TCA p.P82S NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 82 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TTCTGGGGTGGAGTCCCGATG 0.617 NA 33 105 0 0 0 0 PLA2G7 7941 broad.mit.edu 37 6 46678347 46678347 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:46678347C>G uc010jzf.2 - 8 981 c.712G>C c.(712-714)GAC>CAC p.D238H PLA2G7_uc010jzg.1_Missense_Mutation_p.D238H|PLA2G7_uc011dwd.1_Missense_Mutation_p.D193H|PLA2G7_uc011dwe.1_Missense_Mutation_p.D111H NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 238 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) TGATCAATGTCAAGAATCAGA 0.323 NA 54 125 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51612959 51612959 + Missense_Mutation SNP T T G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:51612959T>G uc003pah.1 - 58 9731 c.9455A>C c.(9454-9456)AAC>ACC p.N3152T PKHD1_uc010jzn.1_Missense_Mutation_p.N1135T|PKHD1_uc003pai.2_Missense_Mutation_p.N3152T NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3152 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATAGTCAAAGTTCTTGAAAGC 0.418 NA 9 413 0 0 0 0 COL19A1 1310 broad.mit.edu 37 6 70840095 70840095 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:70840095G>A uc003pfc.1 + 18 1480 c.1363G>A c.(1363-1365)GGA>AGA p.G455R COL19A1_uc010kam.1_Missense_Mutation_p.G351R NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 455 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ACATGAAGCTGGAGGCCTGAA 0.224 NA 5 55 0 0 0 0 DDX43 55510 broad.mit.edu 37 6 74104684 74104684 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:74104684G>A uc003pgw.2 + 1 400 c.56G>A c.(55-57)CGA>CAA p.R19Q OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 19 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 GCTAGTCGGCGAAGCTCGACA 0.627 NA 49 81 0 0 0 0 IBTK 25998 broad.mit.edu 37 6 82935280 82935280 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:82935280C>T uc003pjl.1 - 6 1266 c.739G>A c.(739-741)GAT>AAT p.D247N IBTK_uc011dyv.1_Missense_Mutation_p.D247N|IBTK_uc011dyw.1_Missense_Mutation_p.D247N|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.D247N NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 247 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ACACATCCATCTTCAGTTAAT 0.383 NA 23 74 0 0 0 0 LACE1 246269 broad.mit.edu 37 6 108843519 108843519 + Missense_Mutation SNP C C A rs149085596 by1000genomes TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:108843519C>A uc003psj.2 + 13 1523 c.1337C>A c.(1336-1338)TCC>TAC p.S446Y NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 446 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) GAAGGACTCTCCATGTTTACC 0.368 NA 4 103 0.00024832 0.000257517 1 0 C6orf182 285753 broad.mit.edu 37 6 109480484 109480484 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:109480484C>T uc010kdk.2 + 11 1412 c.835C>T c.(835-837)CGT>TGT p.R279C C6orf182_uc003psx.3_Missense_Mutation_p.R279C|C6orf182_uc010kdl.2_Missense_Mutation_p.R279C|C6orf182_uc003psy.3_Missense_Mutation_p.R279C NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 279 microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) GAGGCAACATCGTGACCCACA 0.403 NA 47 108 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119338003 119338003 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:119338003G>A uc003pyj.2 - 5 1787 c.1439C>T c.(1438-1440)TCT>TTT p.S480F FAM184A_uc003pyk.3_Missense_Mutation_p.S360F|FAM184A_uc003pyl.3_Missense_Mutation_p.S360F NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 480 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 CAAAGTCTTAGAATGGGCCTC 0.378 NA 47 113 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152456262 152456262 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:152456262G>A uc010kiw.2 - 142 26367 c.25765C>T c.(25765-25767)CAG>TAG p.Q8589* SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q3113*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q3113*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q8541*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q8589*|SYNE1_uc003qop.3_Nonsense_Mutation_p.Q774*|SYNE1_uc011eez.1_Nonsense_Mutation_p.Q791*|SYNE1_uc003qoq.3_Nonsense_Mutation_p.Q791*|SYNE1_uc003qor.3_Nonsense_Mutation_p.Q1512* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8589 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGATGGTCCTGAAGTATCTCT 0.383 NA HNSCC(10;0.0054) 21 86 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157527778 157527778 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:157527778G>A uc003qqn.2 + 20 5601 c.5449G>A c.(5449-5451)GAG>AAG p.E1817K ARID1B_uc003qqo.2_Missense_Mutation_p.E1777K|ARID1B_uc003qqp.2_Missense_Mutation_p.E1764K NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1822 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GACTCACTTTGAGAGCAAGAT 0.567 NA 37 188 0 0 0 0 INTS1 26173 broad.mit.edu 37 7 1542722 1542722 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:1542722G>A uc003skn.2 - 3 265 c.164C>T c.(163-165)TCT>TTT p.S55F INTS1_uc003skq.2_Missense_Mutation_p.S55F NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 55 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTTGCGCTCAGAAGGCAGGCC 0.647 NA 25 55 0 0 0 0 HDAC9 9734 broad.mit.edu 37 7 18806740 18806740 + Nonsense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:18806740C>T uc003suh.2 + 15 2208 c.2167C>T c.(2167-2169)CAA>TAA p.Q723* HDAC9_uc003sue.2_Nonsense_Mutation_p.Q723*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.Q723*|HDAC9_uc003sui.2_Nonsense_Mutation_p.Q726*|HDAC9_uc003suj.2_Nonsense_Mutation_p.Q682*|HDAC9_uc003sua.1_Nonsense_Mutation_p.Q701* NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 723 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGATGACTCTCAAAAGTTTTT 0.264 NA 5 19 0 0 0 0 CPVL 54504 broad.mit.edu 37 7 29132252 29132252 + Silent SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:29132252G>T uc003szv.2 - 6 648 c.529C>A c.(529-531)CGG>AGG p.R177R CPVL_uc003szw.2_Silent_p.R177R|CPVL_uc003szx.2_Silent_p.R177R NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 177 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TATAAATCCCGTGCTACATCG 0.398 NA 62 14 2.54e-27 2.78e-27 1 0 GARS 2617 broad.mit.edu 37 7 30639566 30639566 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:30639566C>T uc003tbm.2 + 3 685 c.328C>T c.(328-330)CTG>TTG p.L110L NM_002047 NP_002038 P41250 SYG_HUMAN glycyl-tRNA synthetase 110 WHEP-TRS. cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity ovary(1) 1 Glycine(DB00145) CTAACAGGAGCTGGCGTTACA 0.383 NA 45 101 0 0 0 0 SFRP4 6424 broad.mit.edu 37 7 37955895 37955895 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:37955895G>A uc003tfo.3 - 1 631 c.245C>T c.(244-246)GCG>GTG p.A82V NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 82 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 GCAAATGGGCGCGTACATGGC 0.622 NA 59 34 0 0 0 0 VPS41 27072 broad.mit.edu 37 7 38812186 38812186 + Missense_Mutation SNP A A G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:38812186A>G uc003tgy.2 - 13 1090 c.1064T>C c.(1063-1065)GTA>GCA p.V355A VPS41_uc003tgz.2_Missense_Mutation_p.V330A|VPS41_uc010kxn.2_Missense_Mutation_p.V266A NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 355 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CTTGGCCACTACAACATCTCT 0.408 NA 25 53 0 0 0 0 CALN1 83698 broad.mit.edu 37 7 71252799 71252799 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:71252799C>G uc003twa.3 - 6 1148 c.621G>C c.(619-621)CTG>CTC p.L207L CALN1_uc003twb.3_Silent_p.L249L|CALN1_uc003twc.3_Silent_p.L207L NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 207 Helical; Anchor for type IV membrane protein; (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TGGCTGCAATCAGCATGACAC 0.592 NA 25 51 0 0 0 0 MAGI2 9863 broad.mit.edu 37 7 77797320 77797320 + Missense_Mutation SNP T T G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:77797320T>G uc003ugx.2 - 15 2763 c.2509A>C c.(2509-2511)ACC>CCC p.T837P MAGI2_uc003ugy.2_Missense_Mutation_p.T823P|MAGI2_uc010ldx.1_Missense_Mutation_p.T430P NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 837 PDZ 4. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAGCGGTGGGTTTTGCCGGCT 0.552 NA 175 77 0 0 0 0 MAGI2 9863 broad.mit.edu 37 7 78131061 78131061 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:78131061C>T uc003ugx.2 - 5 1052 c.798G>A c.(796-798)GAG>GAA p.E266E MAGI2_uc003ugy.2_Silent_p.E266E|MAGI2_uc011kgr.1_Silent_p.E98E|MAGI2_uc011kgs.1_Silent_p.E103E NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 266 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGGAGGGCATCTCCCCTGAGG 0.498 NA 38 73 0 0 0 0 SEMA3C 10512 broad.mit.edu 37 7 80546041 80546041 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:80546041C>T uc003uhj.2 - 2 619 c.57G>A c.(55-57)GTG>GTA p.V19V SEMA3C_uc011kgw.1_Silent_p.V37V|SEMA3C_uc011kgx.1_5'UTR NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 19 immune response|response to drug membrane receptor activity ovary(1) 1 AAGATCCTTTCACACAGATAG 0.343 NA 40 128 0 0 0 0 PDK4 5166 broad.mit.edu 37 7 95215081 95215081 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:95215081C>T uc003uoa.2 - 11 1428 c.1108G>A c.(1108-1110)GAG>AAG p.E370K PDK4_uc003unz.2_Missense_Mutation_p.E158K NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 370 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) TCTATAGACTCAGAAGACAAA 0.378 NA 19 63 0 0 0 0 LMTK2 22853 broad.mit.edu 37 7 97820093 97820093 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:97820093C>T uc003upd.1 + 10 1345 c.1052C>T c.(1051-1053)TCA>TTA p.S351L NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 351 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCCGTATTCAAACCTTTCC 0.468 NA 223 170 0 0 0 0 PLOD3 8985 broad.mit.edu 37 7 100859192 100859192 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:100859192C>G uc003uyd.2 - 5 1068 c.612G>C c.(610-612)CTG>CTC p.L204L ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 204 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) TCCCTACCCTCAGTCCTGGGT 0.582 NA 13 64 0 0 0 0 PSMC2 5701 broad.mit.edu 37 7 102996211 102996211 + Silent SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:102996211C>G uc003vbs.2 + 4 331 c.261C>G c.(259-261)CTC>CTG p.L87L SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Silent_p.L87L|PSMC2_uc011klo.1_Intron NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 87 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 AGCAGACACTCCAGAGTGAAC 0.458 NA 21 35 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103130201 103130201 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:103130201C>T uc003vca.2 - 60 9911 c.9751G>A c.(9751-9753)GAG>AAG p.E3251K RELN_uc010liz.2_Missense_Mutation_p.E3251K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3251 EGF-like 8. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGGAAGCTCTCGTCGCAGATG 0.403 NA 10 33 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103389927 103389927 + Missense_Mutation SNP A A G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:103389927A>G uc003vca.2 - 6 762 c.602T>C c.(601-603)ATC>ACC p.I201T RELN_uc010liz.2_Missense_Mutation_p.I201T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 201 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCTCTCAGGATAATGCTGTC 0.343 NA 105 78 0 0 0 0 AKR1B1 231 broad.mit.edu 37 7 134134473 134134473 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:134134473G>A uc003vrp.1 - 4 502 c.428C>T c.(427-429)GCG>GTG p.A143V AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 143 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) CTGTCTTACCGCCCACGTGTC 0.458 NA 158 103 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151896385 151896385 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:151896385G>C uc003wla.2 - 27 4471 c.4252C>G c.(4252-4254)CCA>GCA p.P1418A MLL3_uc003wkz.2_Missense_Mutation_p.P479A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1418 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GATTTTGTTGGAGCCGAGGAT 0.333 NA N medulloblastoma 21 58 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151896520 151896520 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:151896520G>C uc003wla.2 - 27 4336 c.4117C>G c.(4117-4119)CTA>GTA p.L1373V MLL3_uc003wkz.2_Missense_Mutation_p.L434V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1373 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTTGTATCTAGAAGATCTTTT 0.318 NA N medulloblastoma 29 69 0 0 0 0 DPP6 1804 broad.mit.edu 37 7 154595624 154595624 + Silent SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr7:154595624C>T uc003wlk.2 + 14 1587 c.1458C>T c.(1456-1458)GAC>GAT p.D486D DPP6_uc003wli.2_Silent_p.D422D|DPP6_uc003wlm.2_Silent_p.D424D|DPP6_uc011kvq.1_Silent_p.D379D NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 486 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGGACTGGGACGTGACCAAGA 0.557 NA 7 30 0 0 0 0 MYOM2 9172 broad.mit.edu 37 8 2054178 2054178 + Missense_Mutation SNP G G T rs140995511 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:2054178G>T uc003wpx.3 + 22 3019 c.2881G>T c.(2881-2883)GTG>TTG p.V961L MYOM2_uc011kwi.1_Missense_Mutation_p.V386L NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 961 Ig-like C2-type 3. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AATCGAAACCGTGGGGGATCA 0.448 NA 16 95 7.26e-15 7.79e-15 1 0 TNKS 8658 broad.mit.edu 37 8 9437728 9437728 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:9437728C>T uc003wss.2 + 2 738 c.733C>T c.(733-735)CGT>TGT p.R245C TNKS_uc011kwv.1_Missense_Mutation_p.R245C|TNKS_uc011kww.1_Missense_Mutation_p.R8C NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 245 ANK 1. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TGTCCACGCTCGTGATGATGG 0.418 NA 69 193 0 0 0 0 TM2D2 83877 broad.mit.edu 37 8 38851142 38851142 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:38851142G>A uc003xmk.2 - 3 436 c.353C>T c.(352-354)TCA>TTA p.S118L TM2D2_uc003xml.2_Missense_Mutation_p.S75L|TM2D2_uc003xmm.2_Missense_Mutation_p.S75L|TM2D2_uc003xmn.2_Missense_Mutation_p.S75L NM_078473 NP_510882 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 isoform a 118 integral to membrane 0 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GCACTGGACTGAAGTGTGTTC 0.448 NA 26 56 0 0 0 0 PRDM14 63978 broad.mit.edu 37 8 70981882 70981882 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:70981882G>A uc003xym.2 - 2 416 c.214C>T c.(214-216)CGG>TGG p.R72W NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGCGCCATCCGGAAGGGGAAG 0.652 NA 7 10 0 0 0 0 HNF4G 3174 broad.mit.edu 37 8 76465281 76465281 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:76465281C>T uc003yaq.2 + 6 623 c.353C>T c.(352-354)TCA>TTA p.S118L HNF4G_uc003yar.2_Missense_Mutation_p.S155L NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 118 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TACTAGATCTCAGTCTCAAGC 0.348 NA 25 63 0 0 0 0 HNF4G 3174 broad.mit.edu 37 8 76471076 76471076 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:76471076G>A uc003yaq.2 + 9 1056 c.786G>A c.(784-786)ATG>ATA p.M262I HNF4G_uc003yar.2_Missense_Mutation_p.M299I NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 262 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTAAGAACATGAGGTTCCAAG 0.453 NA 36 71 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 105105807 105105807 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:105105807C>T uc003yls.2 + 21 3071 c.2830C>T c.(2830-2832)CGT>TGT p.R944C RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R1017C|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 398 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TAGTGCTTCTCGTTTCAGCAG 0.423 NA HNSCC(12;0.0054) 42 111 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110401306 110401306 + Splice_Site SNP A A T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:110401306A>T uc003yne.2 + 8 728 c.624_splice c.e8-2 p.L208_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTTTTAATTAGATATGGTCT 0.294 NA HNSCC(38;0.096) 43 94 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113519017 113519017 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:113519017G>A uc003ynu.2 - 29 4957 c.4798C>T c.(4798-4800)CTT>TTT p.L1600F CSMD3_uc003yns.2_Missense_Mutation_p.L872F|CSMD3_uc003ynt.2_Missense_Mutation_p.L1560F|CSMD3_uc011lhx.1_Missense_Mutation_p.L1496F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1600 Extracellular (Potential).|CUB 9. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTGGTGAAAGAATAAAGCCT 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 76 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 125076810 125076810 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:125076810C>T uc003yqw.2 + 26 3757 c.3551C>T c.(3550-3552)CCT>CTT p.P1184L uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1184 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GATGGAAAACCTAAGGTCAGA 0.453 NA 18 52 0 0 0 0 DOCK8 81704 broad.mit.edu 37 9 390558 390558 + Missense_Mutation SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:390558G>C uc003zgf.2 + 24 3074 c.2962G>C c.(2962-2964)GAG>CAG p.E988Q DOCK8_uc010mgu.2_Missense_Mutation_p.E290Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E888Q|DOCK8_uc010mgw.1_Missense_Mutation_p.E290Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E446Q NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 988 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GTTCTTCTTTGAGCTTCTGGT 0.433 NA 24 83 0 0 0 0 GLIS3 169792 broad.mit.edu 37 9 4118651 4118651 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:4118651G>A uc003zhw.1 - 3 556 c.362C>T c.(361-363)ACG>ATG p.T121M GLIS3_uc003zhx.1_Missense_Mutation_p.T276M|GLIS3_uc003zic.1_Missense_Mutation_p.T276M|GLIS3_uc003zie.1_Missense_Mutation_p.T276M|GLIS3_uc010mhh.1_Missense_Mutation_p.T151M|GLIS3_uc003zid.1_Missense_Mutation_p.T54M|GLIS3_uc010mhi.1_Missense_Mutation_p.T83M|GLIS3_uc003zif.1_Missense_Mutation_p.T54M|GLIS3_uc003zig.1_Missense_Mutation_p.T120M|GLIS3_uc003zih.1_Missense_Mutation_p.T54M|GLIS3_uc003zhy.1_Missense_Mutation_p.T54M|GLIS3_uc003zhz.1_Missense_Mutation_p.T54M|GLIS3_uc003zib.1_Missense_Mutation_p.T120M|GLIS3_uc010mhg.1_Missense_Mutation_p.T54M NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 121 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCTACTTTCCGTGCCAAAAAG 0.557 NA 43 108 0 0 0 0 UHRF2 115426 broad.mit.edu 37 9 6460620 6460620 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:6460620C>T uc003zjy.2 + 4 1032 c.692C>T c.(691-693)CCA>CTA p.P231L UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Missense_Mutation_p.P8L NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 231 Interaction with PCNP. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) GATCTTAGACCACGAGCTAGA 0.368 NA 39 113 0 0 0 0 UHRF2 115426 broad.mit.edu 37 9 6506129 6506129 + Missense_Mutation SNP C C G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:6506129C>G uc003zjy.2 + 16 2699 c.2359C>G c.(2359-2361)CTG>GTG p.L787V UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 787 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) CAATGAGATTCTGCAGACTCT 0.468 NA 43 117 0 0 0 0 C9orf150 286343 broad.mit.edu 37 9 12821667 12821667 + Missense_Mutation SNP T T G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:12821667T>G uc003zkw.2 + 2 1298 c.595T>G c.(595-597)TTG>GTG p.L199V NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 202 0 GBM - Glioblastoma multiforme(1;1.64e-13) CCCTTCAGACTTGGACCAATT 0.512 NA 55 142 0 0 0 0 BNC2 54796 broad.mit.edu 37 9 16436303 16436303 + Missense_Mutation SNP T T A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:16436303T>A uc003zml.2 - 6 2029 c.1889A>T c.(1888-1890)AAG>ATG p.K630M BNC2_uc011lmw.1_Missense_Mutation_p.K535M|BNC2_uc003zmm.2_Missense_Mutation_p.K588M|BNC2_uc003zmq.1_Missense_Mutation_p.K644M|BNC2_uc003zmr.1_Missense_Mutation_p.K667M|BNC2_uc003zmp.1_Missense_Mutation_p.K658M|BNC2_uc010mij.1_Missense_Mutation_p.K552M|BNC2_uc011lmv.1_Missense_Mutation_p.K456M|BNC2_uc003zmo.1_Missense_Mutation_p.K552M|BNC2_uc003zmj.2_Missense_Mutation_p.K395M|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.K395M|BNC2_uc003zmn.1_Missense_Mutation_p.K395M NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 630 K -> T (in Ref. 1; BAC03837). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GGGCTTTTTCTTGGGTGCCAG 0.527 NA 40 88 0 0 0 0 DCAF12 25853 broad.mit.edu 37 9 34107477 34107477 + Silent SNP G G C TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:34107477G>C uc003ztt.2 - 3 762 c.420C>G c.(418-420)GGC>GGG p.G140G NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 140 WD 1. centrosome|CUL4 RING ubiquitin ligase complex 0 GGATACCACAGCCCTGCTGGG 0.512 NA 67 44 0 0 0 0 PAX5 5079 broad.mit.edu 37 9 37015106 37015106 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:37015106C>T uc003zzo.1 - 3 746 c.298G>A c.(298-300)GCT>ACT p.A100T PAX5_uc011lpw.1_Missense_Mutation_p.A100T|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_5'UTR|PAX5_uc010mls.1_Missense_Mutation_p.A100T|PAX5_uc011lpz.1_Missense_Mutation_p.A100T|PAX5_uc011lqa.1_5'UTR|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.A100T|PAX5_uc010mlp.1_Missense_Mutation_p.A100T|PAX5_uc011lqc.1_Missense_Mutation_p.A100T|PAX5_uc010mlr.1_Missense_Mutation_p.A100T|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 100 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(32) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) TTATATTCAGCGATTTTTTCC 0.522 NA T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 138 315 0 0 0 0 APBA1 320 broad.mit.edu 37 9 72131087 72131087 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:72131087G>A uc004ahh.2 - 2 1316 c.1040C>T c.(1039-1041)TCG>TTG p.S347L NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 347 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GATGGCCAGCGAGATGGCATC 0.398 NA 32 76 0 0 0 0 TRPM6 140803 broad.mit.edu 37 9 77448916 77448916 + Missense_Mutation SNP C C A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:77448916C>A uc004ajl.1 - 6 905 c.667G>T c.(667-669)GAT>TAT p.D223Y TRPM6_uc004ajk.1_Missense_Mutation_p.D218Y|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.D223Y|TRPM6_uc010mpd.1_Missense_Mutation_p.D223Y|TRPM6_uc010mpe.1_Missense_Mutation_p.D223Y|TRPM6_uc004ajn.1_Missense_Mutation_p.D223Y NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 223 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CTACTTACATCTTTTCCAATA 0.313 NA 71 54 1.02e-41 1.12e-41 1 0 FLJ46321 389763 broad.mit.edu 37 9 84609179 84609179 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:84609179G>A uc004amn.2 + 4 3841 c.3794G>A c.(3793-3795)CGT>CAT p.R1265H NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1265 integral to membrane 0 AGCGGAATCCGTGTGGCACAG 0.527 NA 92 176 0 0 0 0 RASEF 158158 broad.mit.edu 37 9 85627423 85627423 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:85627423C>T uc004amo.1 - 5 1030 c.769G>A c.(769-771)GAA>AAA p.E257K NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 257 Potential. protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 GATTGTTCTTCGAGCTGAAAG 0.323 NA 11 28 0 0 0 0 FAM22F 54754 broad.mit.edu 37 9 97082865 97082865 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:97082865G>A uc004aup.1 - 5 1014 c.993C>T c.(991-993)CCC>CCT p.P331P NM_017561 NP_060031 A1L443 FA22F_HUMAN hypothetical protein LOC54754 331 Pro-rich. 0 Acute lymphoblastic leukemia(62;0.136) CATCCTTGCTGGGAAGGTACA 0.687 NA 5 12 0 0 0 0 C9orf84 158401 broad.mit.edu 37 9 114454011 114454011 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:114454011C>T uc004bfr.2 - 25 4189 c.4054G>A c.(4054-4056)GAG>AAG p.E1352K C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.E1313K|C9orf84_uc010mug.2_Missense_Mutation_p.E1263K NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 1352 ovary(2) 2 CAGAAAGTCTCATCTTTTGAA 0.348 NA 38 110 0 0 0 0 STRBP 55342 broad.mit.edu 37 9 125921433 125921433 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:125921433G>A uc004bns.2 - 9 1207 c.777C>T c.(775-777)GGC>GGT p.G259G STRBP_uc004bnt.2_Silent_p.G77G|STRBP_uc004bnu.2_Silent_p.G245G|STRBP_uc004bnv.2_Silent_p.G259G NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 259 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 CCTCCCCAGCGCCCAAAGGTC 0.393 NA 41 98 0 0 0 0 ASB6 140459 broad.mit.edu 37 9 132401583 132401583 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:132401583C>T uc004byf.1 - 4 575 c.409G>A c.(409-411)GAG>AAG p.E137K ASB6_uc004bye.1_Missense_Mutation_p.E62K|ASB6_uc004byg.1_Intron|ASB6_uc011mbt.1_Missense_Mutation_p.E58K|ASB6_uc010myx.1_Missense_Mutation_p.E137K NM_017873 NP_060343 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box-containing 6 isoform 137 ANK 3. intracellular signal transduction cytoplasm 0 Ovarian(14;0.00556) GGGCTACTCTCGTGGATCTGA 0.632 NA 33 75 0 0 0 0 GPR107 57720 broad.mit.edu 37 9 132890983 132890983 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:132890983C>T uc004bze.2 + 19 1876 c.1649C>T c.(1648-1650)TCA>TTA p.S550L GPR107_uc004bzb.2_Missense_Mutation_p.S313L|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.S521L|GPR107_uc004bzd.2_Missense_Mutation_p.S502L|GPR107_uc004bzg.1_5'Flank NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 550 integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) CGTCCGGCTTCAGATAACCCC 0.448 NA 66 213 0 0 0 0 DBH 1621 broad.mit.edu 37 9 136518063 136518063 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:136518063G>A uc004cel.2 + 9 1385 c.1376G>A c.(1375-1377)GGA>GAA p.G459E NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 459 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TTTCCTCAGGGAGATGTGCTC 0.632 NA 30 61 0 0 0 0 SNAPC4 6621 broad.mit.edu 37 9 139278482 139278482 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr9:139278482G>A uc004chh.2 - 14 1432 c.1423C>T c.(1423-1425)CAC>TAC p.H475Y NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 475 HTH myb-type 3. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TTTGCCCAGTGACCTGCAAAA 0.552 NA 15 40 0 0 0 0 GYG2 8908 broad.mit.edu 37 X 2773149 2773149 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:2773149C>T uc004cqs.1 + 6 815 c.533C>T c.(532-534)ACG>ATG p.T178M GYG2_uc004cqt.1_Missense_Mutation_p.T147M|GYG2_uc004cqu.1_Missense_Mutation_p.T147M|GYG2_uc004cqv.1_Translation_Start_Site|GYG2_uc004cqw.1_Missense_Mutation_p.T138M|GYG2_uc004cqx.1_Missense_Mutation_p.T147M|GYG2_uc010ndc.1_Translation_Start_Site NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 178 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTCTCCACACGCATAAACTC 0.502 NA 54 160 0 0 0 0 ARSF 416 broad.mit.edu 37 X 3002413 3002413 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:3002413G>A uc004cre.1 + 6 757 c.536G>A c.(535-537)CGT>CAT p.R179H ARSF_uc004crf.1_Missense_Mutation_p.R179H NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 179 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GACCCCTCTCGTAACACGGAA 0.537 NA 52 113 0 0 0 0 STS 412 broad.mit.edu 37 X 7268021 7268021 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:7268021G>A uc004cry.3 + 10 1716 c.1471G>A c.(1471-1473)GGG>AGG p.G491R NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 491 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CTTCTGTTTCGGGAGTTATGT 0.507 NA Ichthyosis 55 142 0 0 0 0 HCCS 3052 broad.mit.edu 37 X 11135450 11135450 + Missense_Mutation SNP G G C rs144634482 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:11135450G>C uc004cuk.2 + 4 582 c.316G>C c.(316-318)GAG>CAG p.E106Q HCCS_uc004cuj.2_Missense_Mutation_p.E106Q|HCCS_uc004cul.1_Missense_Mutation_p.E106Q NM_005333 NP_005324 P53701 CCHL_HUMAN holocytochrome c synthase 106 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding 0 TGTCAGAGAAGAGTCATCCAT 0.393 NA 72 172 0 0 0 0 BMX 660 broad.mit.edu 37 X 15555263 15555263 + Missense_Mutation SNP G G T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:15555263G>T uc004cww.2 + 14 1417 c.1229G>T c.(1228-1230)TGG>TTG p.W410L BMX_uc004cwx.3_Missense_Mutation_p.W410L|BMX_uc004cwy.3_Missense_Mutation_p.W410L NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 410 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) TTAGGAATCTGGGAACTGAAA 0.483 NA 91 271 9.25e-40 1.01e-39 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19702076 19702076 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:19702076G>A uc004czm.2 - 6 907 c.591C>T c.(589-591)AAC>AAT p.N197N SH3KBP1_uc004czl.2_Silent_p.N160N NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 197 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 CCACTGTCCCGTTGGCACCTT 0.507 NA 65 167 0 0 0 0 OTC 5009 broad.mit.edu 37 X 38262913 38262913 + Missense_Mutation SNP G G A rs67294956 TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:38262913G>A uc004def.3 + 6 797 c.583G>A c.(583-585)GGG>AGG p.G195R NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 195 G -> R (in OTCD; no activity). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) CAGCTGGATCGGGGATGGGAA 0.478 NA 43 91 0 0 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49142813 49142813 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:49142813C>T uc004dnh.1 + 4 1677 c.1661C>T c.(1660-1662)ACG>ATG p.T554M PPP1R3F_uc011mnd.1_Missense_Mutation_p.T225M|PPP1R3F_uc004dni.2_Missense_Mutation_p.T208M|PPP1R3F_uc004dnj.1_Missense_Mutation_p.T208M NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 554 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) GAGGAGATCACGCTGCACTAT 0.647 NA 16 39 0 0 0 0 KDM5C 8242 broad.mit.edu 37 X 53243984 53243984 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:53243984C>T uc004drz.2 - 8 1542 c.1009G>A c.(1009-1011)GAC>AAC p.D337N KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.D270N|KDM5C_uc004dsa.2_Missense_Mutation_p.D336N NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 337 PHD-type 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 AGGAGCTTGTCATCCTCATCC 0.537 NA N|F|S clear cell renal carcinoma 22 38 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53573555 53573555 + Splice_Site SNP T T A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:53573555T>A uc004dsp.2 - 70 11161 c.10759_splice c.e70-1 p.V3587_splice HUWE1_uc004dsn.2_Splice_Site_p.V2395_splice|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TGTCAACACCTGAGAAAAAGA 0.502 NA 24 27 0 0 0 0 IGBP1 3476 broad.mit.edu 37 X 69385733 69385733 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:69385733G>A uc004dxv.2 + 6 1421 c.922G>A c.(922-924)GAA>AAA p.E308K IGBP1_uc004dxw.2_Missense_Mutation_p.E308K NM_001551 NP_001542 P78318 IGBP1_HUMAN immunoglobulin binding protein 1 308 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(1)|pancreas(1) 2 AGAAAAGGAGGAAGAGGATGA 0.468 NA 17 41 0 0 0 0 KIF4A 24137 broad.mit.edu 37 X 69595998 69595998 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:69595998G>A uc004dyg.2 + 18 2099 c.1972G>A c.(1972-1974)GCT>ACT p.A658T KIF4A_uc010nkw.2_Missense_Mutation_p.A658T|KIF4A_uc004dyf.1_Missense_Mutation_p.A658T NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 658 Potential. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 GAAAGAAGATGCTGAGAAGTT 0.338 NA 21 58 0 0 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361414 83361414 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:83361414G>A uc004eej.1 - 15 1401 c.1324C>T c.(1324-1326)CGA>TGA p.R442* RPS6KA6_uc011mqt.1_Nonsense_Mutation_p.R442*|RPS6KA6_uc011mqu.1_Nonsense_Mutation_p.R339* NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 442 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TGTATGCATCGCTTGCAAACA 0.348 NA 10 34 0 0 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249462 119249462 + Missense_Mutation SNP C C T TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:119249462C>T uc004esk.1 - 1 386 c.311G>A c.(310-312)CGA>CAA p.R104Q uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 104 Homeobox. gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCGCCGAGTTCGTGGCTGCAT 0.652 NA 31 101 0 0 0 0 FRMD7 90167 broad.mit.edu 37 X 131212241 131212241 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:131212241G>A uc004ewn.2 - 12 1982 c.1804C>T c.(1804-1806)CCT>TCT p.P602S FRMD7_uc011muy.1_Missense_Mutation_p.P587S NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 602 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) GACCCAAAAGGAAAACGAATA 0.433 NA 56 170 0 0 0 0 ATP11C 286410 broad.mit.edu 37 X 138840005 138840005 + Nonsense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:138840005G>A uc004faz.2 - 23 2770 c.2671C>T c.(2671-2673)CAG>TAG p.Q891* ATP11C_uc004fax.2_Nonsense_Mutation_p.Q99*|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Nonsense_Mutation_p.Q891* NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 891 Helical; (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TACAAAAACTGTGGCAAAATG 0.289 NA 13 33 0 0 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718807 142718807 + Missense_Mutation SNP A A G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:142718807A>G uc004fbx.2 - 2 494 c.118T>C c.(118-120)TAT>CAT p.Y40H SLITRK4_uc004fby.2_Missense_Mutation_p.Y40H NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 40 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAGTTGACATAGAGCACATTC 0.373 NA 5 163 0 0 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904855 144904855 + Silent SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:144904855G>A uc004fcd.2 + 5 1902 c.912G>A c.(910-912)CCG>CCA p.P304P SLITRK2_uc010nsp.2_Silent_p.P304P|SLITRK2_uc010nso.2_Silent_p.P304P|SLITRK2_uc011mwq.1_Silent_p.P304P|SLITRK2_uc011mwr.1_Silent_p.P304P|SLITRK2_uc011mws.1_Silent_p.P304P|SLITRK2_uc004fcg.2_Silent_p.P304P|SLITRK2_uc011mwt.1_Silent_p.P304P NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 304 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CCAGCCGGCCGCCCAAAATGA 0.557 NA 59 133 0 0 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13474787 13474788 + Frame_Shift_Ins INS - - G TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr1:13474787_13474788insG uc009vnu.1 - 3 1388_1389 c.1341_1342insC c.(1339-1344)CCCAACfs p.P447fs NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 447_448 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAGATCCTGTTGGGCTCCCTTA 0.564 NA 5 9 --- --- --- --- NA NA NA NA C15orf24 56851 broad.mit.edu 37 15 34376648 34376663 + Frame_Shift_Del DEL CATGGTTGGAATTCAG CATGGTTGGAATTCAG - TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr15:34376648_34376663delCATGGTTGGAATTCAG uc001zhm.2 - 5 614_629 c.601_616delCTGAATTCCAACCATG c.(601-618)CTGAATTCCAACCATGAGfs p.L201fs C15orf24_uc001zhn.2_Frame_Shift_Del_p.L84fs NM_020154 NP_064539 Q9NPA0 CO024_HUMAN chromosome 15 open reading frame 24 precursor 201_206 Cytoplasmic (Potential). cytoplasm|integral to membrane carbohydrate binding|carboxypeptidase activity|purine nucleotide binding 0 all_lung(180;1.76e-08) all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) TCAGGCAACTCATGGTTGGAATTCAGCATATTCATT 0.421 NA 21 105 --- --- --- --- NA NA NA NA OR5H1 26341 broad.mit.edu 37 3 97851704 97851706 + In_Frame_Del DEL CTT CTT - TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr3:97851704_97851706delCTT uc011bgt.1 + 1 163_165 c.163_165delCTT c.(163-165)CTTdel p.L55del NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 AGACCCTCACCTTCATATCCCAA 0.424 NA 7 206 --- --- --- --- NA NA NA NA MICAL1 64780 broad.mit.edu 37 6 109769587 109769587 + Frame_Shift_Del DEL T T - TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr6:109769587delT uc003ptj.2 - 12 1928 c.1674delA c.(1672-1674)TCAfs p.S558fs MICAL1_uc003ptk.2_Frame_Shift_Del_p.S558fs|MICAL1_uc010kdr.2_Frame_Shift_Del_p.S472fs|MICAL1_uc011eaq.1_Frame_Shift_Del_p.S577fs NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 558 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CCTGCAGCTCTGAGGGTTCCC 0.607 NA 86 191 --- --- --- --- NA NA NA NA C8orf33 65265 broad.mit.edu 37 8 146278237 146278238 + Frame_Shift_Ins INS - - A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chr8:146278237_146278238insA uc003zfc.3 + 2 326_327 c.272_273insA c.(271-273)TCAfs p.S91fs C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 91 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) GAGAAGGCCTCAGAGAAACTCG 0.594 NA 18 51 --- --- --- --- NA NA NA NA CXCR3 2833 broad.mit.edu 37 X 70836869 70836870 + Frame_Shift_Ins INS - - AGGT TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4d42594f-c1f4-45ed-8bd2-7701f914d33c 7483ff71-6673-41d5-814c-f4657603964c g.chrX:70836869_70836870insAGGT uc004eaf.2 - 2 520_521 c.452_453insACCT c.(451-453)CTGfs p.L151fs BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Frame_Shift_Ins_p.L198fs NM_001504 NP_001495 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 isoform A 151 Cytoplasmic (Potential). cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity ovary(2)|central_nervous_system(1) 3 Renal(35;0.156) GAACTATGTTCAGGTAGCGGTC 0.52 NA 10 39 --- --- --- --- NA NA NA NA